From 99a0a16dd24736768ff931e175994b97802e3f92 Mon Sep 17 00:00:00 2001 From: Sabrina Toro Date: Tue, 23 Apr 2024 16:10:10 -0700 Subject: [PATCH 1/3] ICD11foundation x-ref Added all the ICD11foundation x-ref that were reported in the exact lexical matching file. --- src/ontology/mondo-edit.obo | 3678 +++++++++++++++++++++++++++++++++++ 1 file changed, 3678 insertions(+) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index f15d3305b0..9516bc1857 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -120,6 +120,7 @@ synonym: "hypoadrenalism" RELATED [GARD:0006722] synonym: "hypocortisolemia" EXACT [NCIT:C26691] synonym: "hypocortisolism" EXACT [NCIT:C26691] xref: DOID:10493 {source="MONDO:equivalentTo"} +xref: icd11.foundation:733056203 {source="MONDO:equivalentTo"} xref: ICD9:255.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10493"} xref: ICD9:255.41 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D000309 {source="MONDO:equivalentTo"} @@ -272,6 +273,7 @@ comment: See genetic heterogeneity of OMIM 600631. synonym: "bedwetting" EXACT [] synonym: "enuresis, nocturnal" EXACT [] synonym: "sleep enuresis" EXACT [NCIT:C118172] +xref: icd11.foundation:1048673005 {source="MONDO:equivalentTo"} xref: MESH:D053206 {source="MONDO:equivalentTo"} xref: NCIT:C118172 {source="MONDO:equivalentTo"} xref: UMLS:C0270327 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C118172"} @@ -759,6 +761,7 @@ name: pelvic organ prolapse def: "Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence." [MESH:D056887] comment: Text of OMIM 613088 points to OMIM 176780 for disease description. xref: EFO:0004710 {source="MONDO:equivalentTo"} +xref: icd11.foundation:148580117 {source="MONDO:equivalentTo"} xref: MESH:D056887 {source="EFO:0004710", source="MONDO:equivalentTo"} xref: SCTID:237113009 {source="EFO:0004710", source="MONDO:equivalentTo"} xref: UMLS:C0877015 {source="MONDO:equivalentTo"} @@ -801,6 +804,7 @@ subset: rare xref: DOID:0080918 {source="MONDO:equivalentTo"} xref: GARD:18818 {source="Orphanet:35981"} xref: ICD10CM:Q04.3 {source="Orphanet:35981/inclusion", source="Orphanet:35981/ntbt", source="Orphanet:35981"} +xref: icd11.foundation:2081858551 {source="MONDO:equivalentTo"} xref: icd11.foundation:2081858551 {source="MONDO:equivalentTo", source="Orphanet:35981"} xref: MESH:D065706 {source="MONDO:equivalentTo"} xref: NCIT:C116936 {source="MONDO:equivalentTo"} @@ -1026,6 +1030,7 @@ subset: orphanet_rare {source="Orphanet:2695"} subset: rare xref: GARD:884 {source="Orphanet:2695"} xref: ICD10CM:Q30.2 {source="Orphanet:2695/attributed", source="Orphanet:2695/ntbt", source="Orphanet:2695"} +xref: icd11.foundation:1824850646 {source="MONDO:equivalentTo"} xref: icd11.foundation:1824850646 {source="Orphanet:2695", source="MONDO:equivalentTo"} xref: MESH:C535441 {source="Orphanet:2695", source="MONDO:equivalentTo", source="Orphanet:2695/e"} xref: Orphanet:2695 {source="MONDO:equivalentTo"} @@ -1157,6 +1162,7 @@ synonym: "geleophysic dwarfism syndrome" RELATED [https://orcid.org/0000-0002-66 xref: DOID:0111724 {source="MONDO:equivalentTo"} xref: GARD:2449 {source="Orphanet:2623"} xref: ICD10CM:Q87.1 {source="Orphanet:2623", source="Orphanet:2623/attributed", source="Orphanet:2623/ntbt"} +xref: icd11.foundation:518828851 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10063361 {source="Orphanet:2623", source="Orphanet:2623/e"} xref: MESH:C537677 {source="Orphanet:2623", source="Orphanet:2623/e"} @@ -1176,6 +1182,7 @@ comment: See genetic heterogeneity of OMIM 256850. subset: clingen subset: nord_rare {source="NORD:1182", source="MONDO:NORD"} subset: rare +xref: icd11.foundation:1848636316 {source="MONDO:equivalentTo"} xref: ICD9:349.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D056768 {source="MONDO:equivalentTo"} xref: NCIT:C84728 {source="MONDO:equivalentTo"} @@ -1273,6 +1280,7 @@ synonym: "keratosis pilaris decalvans" EXACT [https://orcid.org/0000-0002-6601-2 xref: DOID:0080753 {source="MONDO:equivalentTo"} xref: GARD:6829 {source="Orphanet:2340"} xref: ICD10CM:Q82.8 {source="Orphanet:2340/attributed", source="Orphanet:2340/ntbt", source="Orphanet:2340"} +xref: icd11.foundation:303213910 {source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536159 {source="Orphanet:2340/e", source="Orphanet:2340"} xref: NORD:1288 {source="MONDO:NORD"} @@ -1332,6 +1340,7 @@ synonym: "Warburton-Anyane-Yeboa syndrome" EXACT [Orphanet:1052] xref: DOID:0080688 {source="MONDO:equivalentTo"} xref: GARD:3007 {source="Orphanet:1052"} xref: ICD10CM:Q99.8 {source="Orphanet:1052/attributed", source="Orphanet:1052/ntbt", source="Orphanet:1052"} +xref: icd11.foundation:398235351 {source="MONDO:equivalentTo"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536987 {source="Orphanet:1052/e", source="MONDO:equivalentTo", source="Orphanet:1052"} xref: NCIT:C128192 {source="MONDO:equivalentTo"} @@ -1447,6 +1456,7 @@ xref: GARD:7795 {source="Orphanet:216675"} xref: ICD10CM:Q20.3 {source="Orphanet:216675/btnt", source="Orphanet:216675"} xref: ICD10CM:Q20.5 {source="Orphanet:216675/btnt", source="Orphanet:216675"} xref: icd11.foundation:429190257 {source="MONDO:equivalentTo", source="Orphanet:216675"} +xref: icd11.foundation:429190257 {source="MONDO:equivalentTo"} xref: MESH:D014188 {source="MONDO:equivalentTo"} xref: NCIT:C84742 {source="MONDO:equivalentTo"} xref: Orphanet:216675 {source="MONDO:equivalentTo"} @@ -1484,6 +1494,7 @@ synonym: "trigonocephalia" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "trigonocephalus" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "trigonocephaly" EXACT [OMIMPS:190440] synonym: "trigonocephaly, isolated" RELATED [OMIMPS:190440] +xref: icd11.foundation:20816218 {source="MONDO:equivalentTo"} xref: SCTID:28740008 {source="MONDO:equivalentTo"} is_a: MONDO:0018234 ! dysostosis relationship: disease_has_major_feature HP:0000243 ! Trigonocephaly @@ -1738,6 +1749,7 @@ synonym: "NLS" RELATED ABBREVIATION [GARD:0000102] synonym: "nuclear localization signal" EXACT [NCIT:C14089] xref: GARD:102 {source="Orphanet:2671"} xref: ICD10CM:Q87.8 {source="Orphanet:2671/attributed", source="Orphanet:2671/ntbt"} +xref: icd11.foundation:893358230 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536405 {source="MONDO:equivalentTo", source="Orphanet:2671/e"} xref: NCIT:C14089 {source="MONDO:equivalentTo"} @@ -1848,6 +1860,7 @@ synonym: "VF" EXACT ABBREVIATION [NCIT:C50799] synonym: "VFib" EXACT [NCIT:C50799] xref: EFO:0004287 {source="MONDO:equivalentTo"} xref: HP:0001663 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:1662472992 {source="MONDO:equivalentTo"} xref: ICD9:427.41 {source="EFO:0004287", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D014693 {source="EFO:0004287", source="MONDO:equivalentTo"} xref: NCIT:C50799 {source="EFO:0004287", source="MONDO:equivalentTo"} @@ -1961,6 +1974,7 @@ synonym: "ZLS" RELATED ABBREVIATION [GARD:0000385] synonym: "ZLS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:135500] xref: GARD:385 {source="Orphanet:3473"} xref: ICD10CM:Q87.8 {source="Orphanet:3473/attributed", source="Orphanet:3473/ntbt", source="Orphanet:3473"} +xref: icd11.foundation:8285962 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536725 {source="MONDO:equivalentTo"} xref: OMIMPS:135500 {source="MONDO:equivalentTo"} @@ -2431,6 +2445,7 @@ def: "An aspergillosis that is a serious fungal infection of the lung with pneum subset: inferred_rare subset: rare xref: DOID:0050073 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1314810340 {source="MONDO:equivalentTo"} xref: SCTID:721798004 {source="MONDO:equivalentTo"} xref: UMLS:C0238013 {source="MONDO:equivalentTo"} is_a: MONDO:0005657 {source="DOID:0050073", source="MONDO:Redundant"} ! aspergillosis @@ -2705,6 +2720,7 @@ synonym: "external ear fungal infectious disease" EXACT [MONDO:patterns/location synonym: "otitis mycotic externa" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "Singapore ear" RELATED [DOID:0050147] xref: DOID:0050147 {source="MONDO:equivalentTo"} +xref: icd11.foundation:107388709 {source="MONDO:equivalentTo"} xref: ICD9:111.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D059249 {source="MONDO:equivalentTo"} xref: SCTID:53316003 {source="MONDO:equivalentTo"} @@ -2843,6 +2859,7 @@ subset: rare synonym: "fallopian tube tuberculosis" RELATED [https://orcid.org/0000-0002-6601-2165] xref: DOID:0050166 {source="MONDO:equivalentTo"} xref: ICD10CM:A18.17 {source="DOID:0050166"} +xref: icd11.foundation:25239933 {source="MONDO:equivalentTo"} xref: ICD9:016.6 {source="DOID:0050166"} xref: ICD9:016.60 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:186242002 {source="DOID:0050166"} @@ -2902,6 +2919,7 @@ synonym: "Powassan virus caused disease or disorder" EXACT [MONDO:patterns/speci synonym: "Powassan virus disease or disorder" EXACT [] synonym: "Powassan virus infectious disease" EXACT [] xref: DOID:0050179 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1674038791 {source="MONDO:equivalentTo"} xref: ICD9:063.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:416707008 {source="MONDO:equivalentTo"} xref: UMLS:C0032858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -3076,6 +3094,7 @@ synonym: "infection by larvae of multiceps" RELATED [] synonym: "infection by tapeworm larva" RELATED [] synonym: "sturdy" RELATED [Wikipedia:Coenurosis] xref: DOID:0050251 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1545561495 {source="MONDO:equivalentTo"} xref: ICD9:123.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:24360007 {source="MONDO:equivalentTo"} xref: UMLS:C0009225 {source="MONDO:equivalentTo"} @@ -3111,6 +3130,7 @@ synonym: "disease due to Acanthocephala" EXACT [] synonym: "infection by Acanthocephala" EXACT [] synonym: "infection by thorny-headed worm" EXACT [] xref: DOID:0050254 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1026340475 {source="MONDO:equivalentTo"} xref: SCTID:105713003 {source="MONDO:equivalentTo"} xref: UMLS:C0277331 {source="MONDO:equivalentTo"} is_a: MONDO:0004664 {source="DOID:0050254"} ! helminthiasis @@ -3173,6 +3193,7 @@ synonym: "thelaziasis" EXACT [] synonym: "thelaziosis" RELATED [] synonym: "verminous ophthalmia" RELATED [] xref: DOID:0050261 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1803398353 {source="MONDO:equivalentTo"} xref: ICD9:128.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:46477004 {source="MONDO:equivalentTo"} xref: UMLS:C0344058 {source="MONDO:equivalentTo"} @@ -3216,6 +3237,7 @@ synonym: "Basidiobolus infectious disease" EXACT [] synonym: "infection by Basidiobolus" EXACT [UMLS:C0343965] synonym: "infection caused by Basidiobolus" EXACT [UMLS:C0343965] xref: DOID:0050278 {source="MONDO:equivalentTo"} +xref: icd11.foundation:2087283296 {source="MONDO:equivalentTo"} xref: MEDGEN:575966 {source="UMLS:C0343965"} xref: SCTID:4921002 {source="MONDO:equivalentTo", source="UMLS:C0343965"} xref: UMLS:C0343965 {source="MONDO:equivalentTo"} @@ -3232,6 +3254,7 @@ synonym: "Conidiobolus infectious disease" EXACT [] synonym: "infection by Conidiobolus" EXACT [] synonym: "rhinoentomophthoromycosis" RELATED [] xref: DOID:0050279 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1326582778 {source="MONDO:equivalentTo"} xref: ICD9:111.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:240783007 {source="MONDO:equivalentTo"} xref: UMLS:C0276712 {source="MONDO:equivalentTo"} @@ -3312,6 +3335,7 @@ def: "A condition in which the ocular image of an object as seen by one eye diff xref: DOID:0050304 {source="MONDO:equivalentTo"} xref: EFO:1001266 {source="MONDO:equivalentTo"} xref: ICD10CM:H52.32 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1672014953 {source="MONDO:equivalentTo"} xref: ICD9:367.32 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D000839 {source="MONDO:equivalentTo"} xref: SCTID:16059006 {source="MONDO:equivalentTo"} @@ -3494,6 +3518,7 @@ synonym: "hyperphosphatemia" EXACT [MONDO:ambiguous] synonym: "hyperphosphatemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0050459 {source="MONDO:equivalentTo"} xref: HP:0002905 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:1745515193 {source="MONDO:equivalentTo"} xref: MESH:D054559 {source="MONDO:equivalentTo", source="DOID:0050459"} xref: NCIT:C113750 {source="MONDO:otherHierarchy", source="DOID:0050459"} xref: SCTID:20165001 {source="MONDO:equivalentTo", source="DOID:0050459"} @@ -3594,6 +3619,7 @@ subset: inferred_rare subset: rare synonym: "Early congenital syphilis (less than 2 years)" BROAD [UMLS:C0275859] xref: DOID:0050488 {source="MONDO:equivalentTo"} +xref: icd11.foundation:108348777 {source="MONDO:equivalentTo"} xref: ICD9:090.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:4359001 {source="UMLS:C0275859", source="MONDO:equivalentTo"} xref: UMLS:C0275859 {source="MONDO:equivalentTo"} @@ -3891,6 +3917,7 @@ synonym: "Ullrich scleroatonic muscular dystrophy" EXACT [DOID:0050558] xref: DOID:0050558 {source="MONDO:equivalentTo"} xref: GARD:4769 {source="Orphanet:75840"} xref: ICD10CM:G71.2 {source="Orphanet:75840/attributed", source="Orphanet:75840/ntbt", source="Orphanet:75840"} +xref: icd11.foundation:1011547453 {source="MONDO:equivalentTo"} xref: MESH:C537521 {source="MONDO:equivalentTo"} xref: NCIT:C123438 {source="MONDO:equivalentTo"} xref: OMIMPS:254090 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} @@ -3983,6 +4010,7 @@ id: MONDO:0000363 name: gummatous syphilis def: "A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ." [DOID:0050584, http://emedicine.medscape.com/article/229461-overview#a0104] xref: DOID:0050584 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1630654348 {source="MONDO:equivalentTo"} is_a: MONDO:0004497 {source="DOID:0050584"} ! tertiary syphilis [Term] @@ -4001,6 +4029,7 @@ synonym: "primary congenital glaucoma" EXACT [MONDO:ambiguous] synonym: "primary congenital glaucoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0050593 {source="MONDO:equivalentTo"} xref: HP:0008007 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:517092878 {source="MONDO:equivalentTo"} xref: NCIT:C150251 {source="MONDO:equivalentTo"} xref: SCTID:415176004 {source="MONDO:equivalentTo"} xref: UMLS:C1533041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -4030,6 +4059,7 @@ xref: DOID:0050596 {source="MONDO:equivalentTo"} xref: EFO:1001433 {source="MONDO:equivalentTo"} xref: ICD10CM:B68 {source="MONDO:equivalentTo"} xref: ICD10CM:B68.1 {source="DOID:0050596"} +xref: icd11.foundation:733748279 {source="MONDO:equivalentTo"} xref: ICD9:123.2 {source="DOID:0050596", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D013622 {source="MONDO:equivalentTo"} xref: NCIT:C85180 {source="MONDO:equivalentTo"} @@ -4539,6 +4569,7 @@ name: spastic cerebral palsy def: "A form of cerebral palsy wherein spasticity is the exclusive impairment present." [Wikipedia:Spastic_cerebral_palsy] synonym: "hypertonic cerebral palsy" RELATED [Wikipedia:Spastic_cerebral_palsy] xref: DOID:0050669 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1426032265 {source="MONDO:equivalentTo"} xref: ICD9:344.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C116903 {source="MONDO:equivalentTo"} xref: SCTID:230773005 {source="MONDO:equivalentTo"} @@ -4552,6 +4583,7 @@ name: ataxic cerebral palsy def: "A form of cerebral palsy caused by damage to cerebellar structures." [Wikipedia:Ataxic_cerebral_palsy] synonym: "hypotonic cerebral palsy" RELATED EXCLUDE [DOID:0050670] xref: DOID:0050670 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1134558601 {source="MONDO:equivalentTo"} xref: ICD9:343.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C97168 {source="MONDO:equivalentTo"} xref: SCTID:278512001 {source="MONDO:equivalentTo"} @@ -5011,6 +5043,8 @@ synonym: "lymphoplasmacytic lymphoma (Waldenstrom macroglobulinemia)" EXACT [NCI synonym: "lymphoplasmacytoid lymphoma" EXACT [NCIT:C3212] xref: DOID:0050747 {source="MONDO:equivalentObsolete"} xref: ICD10CM:C88.0 {source="DOID:0050747"} +xref: icd11.foundation:1131385699 {source="MONDO:equivalentTo"} +xref: icd11.foundation:2058944823 {source="MONDO:equivalentTo"} xref: ICD9:273.3 {source="MONDO:relatedTo", source="DOID:0050747"} xref: ICDO:9671/3 {source="NCIT:C3212"} xref: ICDO:9761/3 {source="NCIT:C3212"} @@ -5177,6 +5211,7 @@ xref: GARD:9457 {source="Orphanet:2924"} xref: HP:0006557 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q44.6 {source="MONDO:equivalentTo"} xref: icd11.foundation:1361740083 {source="MONDO:equivalentTo", source="Orphanet:2924", source="https://orcid.org/0000-0002-4142-7153"} +xref: icd11.foundation:423904268 {source="MONDO:equivalentTo"} xref: ICD9:751.62 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10010427 {source="MONDO:relatedTo"} xref: MedDRA:10048834 {source="MONDO:relatedTo"} @@ -5256,6 +5291,7 @@ synonym: "secondary-progressive MS" EXACT [DOID:0050783, PMID:27166830] synonym: "SPMS" EXACT ABBREVIATION [DOID:0050783, PMID:27166830] xref: DOID:0050783 {source="MONDO:equivalentTo"} xref: EFO:0008522 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1045965709 {source="MONDO:equivalentTo"} xref: MESH:D020528 {source="DOID:0050783"} xref: SCTID:425500002 {source="DOID:0050783", source="MONDO:equivalentTo"} xref: UMLS:C0751965 {source="DOID:0050783", source="MONDO:equivalentTo"} @@ -5271,6 +5307,7 @@ synonym: "PPMS" EXACT ABBREVIATION [DOID:0050784] synonym: "primary-progressive MS" EXACT [DOID:0050784] xref: DOID:0050784 {source="MONDO:equivalentTo"} xref: EFO:0008520 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1020720762 {source="MONDO:equivalentTo"} xref: MESH:D020528 {source="DOID:0050784"} xref: SCTID:428700003 {source="DOID:0050784", source="MONDO:equivalentTo"} xref: UMLS:C0751964 {source="DOID:0050784", source="MONDO:equivalentTo"} @@ -5306,6 +5343,7 @@ synonym: "ventricular arrhythmia associated with short QT syndrome" EXACT [NCIT: xref: DOID:0050793 {source="MONDO:equivalentTo"} xref: GARD:16650 {source="Orphanet:51083"} xref: ICD10CM:I49.8 {source="Orphanet:51083", source="Orphanet:51083/attributed", source="Orphanet:51083/ntbt"} +xref: icd11.foundation:553392015 {source="MONDO:equivalentTo"} xref: icd11.foundation:553392015 {source="MONDO:equivalentTo", source="Orphanet:51083"} xref: ICD9:426.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C580439 {source="MONDO:equivalentTo"} @@ -5486,6 +5524,7 @@ synonym: "urofacial syndrome" EXACT [Orphanet:2704] xref: DOID:0050816 {source="MONDO:equivalentTo"} xref: GARD:104 {source="Orphanet:2704"} xref: ICD10CM:N31.8 {source="Orphanet:2704", source="Orphanet:2704/attributed", source="Orphanet:2704/ntbt"} +xref: icd11.foundation:443886910 {source="MONDO:equivalentTo"} xref: MESH:C536480 {source="Orphanet:2704/e", source="MONDO:equivalentTo", source="Orphanet:2704"} xref: NORD:1515 {source="MONDO:NORD"} xref: OMIMPS:236730 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} @@ -5833,6 +5872,7 @@ subset: orphanet_rare {source="Orphanet:93962"} subset: rare synonym: "spasmodic torticollis" RELATED [DOID:0050840] xref: DOID:0050840 {source="MONDO:equivalentTo"} +xref: icd11.foundation:632668568 {source="MONDO:equivalentTo"} xref: ICD9:333.83 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C85072 {source="MONDO:equivalentTo"} xref: Orphanet:93962 {source="MONDO:equivalentObsolete"} @@ -5864,6 +5904,7 @@ id: MONDO:0000483 name: oculogyric crisis def: "A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes." [DOID:0050842, http://en.wikipedia.org/wiki/Oculogyric_crisis] xref: DOID:0050842 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1191930451 {source="MONDO:equivalentTo"} is_a: MONDO:0000477 {source="DOID:0050842", source="Wikipedia:Dystonia"} ! focal dystonia [Term] @@ -5947,6 +5988,7 @@ subset: inferred_rare subset: rare synonym: "glomerular sclerosis" EXACT [NCIT:C120888] xref: DOID:0050851 {source="MONDO:equivalentTo"} +xref: icd11.foundation:2068645853 {source="MONDO:equivalentTo"} xref: NCIT:C120888 {source="MONDO:equivalentTo"} xref: SCTID:197661001 {source="MONDO:equivalentTo"} xref: UMLS:C0178664 {source="NCIT:C120888", source="MONDO:equivalentTo"} @@ -6011,6 +6053,7 @@ synonym: "oppositional defiant disorder" EXACT [MONDO:ambiguous] synonym: "oppositional defiant disorder (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0050856 {source="MONDO:equivalentTo"} xref: HP:0010865 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:1487528823 {source="MONDO:equivalentTo"} xref: ICD9:313.81 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D019958 {source="MONDO:equivalentTo"} xref: NCIT:C92565 {source="MONDO:equivalentTo"} @@ -6056,6 +6099,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "arteritic aion" EXACT [Wikipedia:Arteritic_anterior_ischemic_optic_neuropathy] xref: DOID:0050863 {source="MONDO:equivalentTo"} +xref: icd11.foundation:815828716 {source="MONDO:equivalentTo"} xref: SCTID:733506009 {source="MONDO:equivalentTo"} xref: UMLS:C2242711 {source="MONDO:equivalentTo"} is_a: MONDO:0006649 {source="DOID:0050863"} ! anterior ischemic optic neuropathy @@ -6072,6 +6116,7 @@ synonym: "non-arteritic aion" EXACT [Wikipedia:Arteritic_anterior_ischemic_optic synonym: "nonarteritic anterior ischaemic optic neuropathy" EXACT OMO:0003005 [] synonym: "nonarteritic anterior ischemic optic neuropathy" EXACT [DOID:0050864] xref: DOID:0050864 {source="MONDO:equivalentTo"} +xref: icd11.foundation:8640162 {source="MONDO:equivalentTo"} xref: Orphanet:415300 {source="MONDO:equivalentObsolete"} xref: UMLS:C1852242 {source="MONDO:equivalentTo"} is_a: MONDO:0006649 {source="DOID:0050864"} ! anterior ischemic optic neuropathy @@ -6206,6 +6251,7 @@ synonym: "pagetoid neuroskeletal syndrome" EXACT [OMIM:167320, Orphanet:52430] xref: DOID:0050881 {source="MONDO:equivalentTo"} xref: GARD:10899 {source="Orphanet:52430"} xref: ICD10CM:G71.8 {source="Orphanet:52430", source="Orphanet:52430/attributed", source="Orphanet:52430/ntbt"} +xref: icd11.foundation:1947548457 {source="MONDO:equivalentTo"} xref: OMIMPS:167320 {source="MONDO:equivalentTo"} xref: Orphanet:52430 {source="MONDO:equivalentTo"} xref: SCTID:703544004 {source="MONDO:equivalentTo"} @@ -7266,6 +7312,7 @@ name: aphasia def: "A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language." [DOID:0060046, http://en.wikipedia.org/wiki/Aphasia] xref: DOID:0060046 {source="MONDO:equivalentTo"} xref: ICD10CM:R47.01 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1167055901 {source="MONDO:equivalentTo"} xref: MESH:D001037 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} is_a: MONDO:0004750 {source="DOID:0060046"} ! language disorder relationship: disease_has_feature HP:0002300 {source="MONDO:Wikidata"} ! Mutism @@ -8232,6 +8279,7 @@ subset: inferred_rare subset: rare synonym: "receptive amusia" EXACT [DOID:0060132] xref: DOID:0060132 {source="MONDO:equivalentTo"} +xref: icd11.foundation:777548616 {source="MONDO:equivalentTo"} xref: UMLS:C0234497 {source="MONDO:equivalentTo"} is_a: MONDO:0005638 {source="DOID:0060132"} ! agnosia @@ -8242,6 +8290,7 @@ def: "An agnosia that is a loss of the ability to gain feedback about one's own subset: inferred_rare subset: rare xref: DOID:0060133 {source="MONDO:equivalentTo"} +xref: icd11.foundation:833222383 {source="MONDO:equivalentTo"} is_a: MONDO:0005638 {source="DOID:0060133"} ! agnosia [Term] @@ -8263,6 +8312,7 @@ synonym: "Apraxias" EXACT [MESH:D001072] synonym: "dyspraxia" EXACT [GARD:0005838] xref: DOID:0060135 {source="MONDO:equivalentTo"} xref: ICD10CM:R48.2 {source="MONDO:equivalentTo"} +xref: icd11.foundation:986651951 {source="MONDO:equivalentTo"} xref: MESH:D001072 {source="MONDO:equivalentTo"} xref: NCIT:C180557 {source="MONDO:equivalentTo"} is_a: MONDO:0024417 {source="https://orcid.org/0000-0002-6601-2165"} ! perceptual disorders @@ -8407,6 +8457,7 @@ name: simultanagnosia def: "An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time." [DOID:0060148, http://en.wikipedia.org/wiki/Agnosia] subset: rare xref: DOID:0060148 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1669328667 {source="MONDO:equivalentTo"} is_a: MONDO:0005638 {source="DOID:0060148"} ! agnosia property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11943/simultanagnosia" xsd:anyURI {source="GARD:0011943"} @@ -8431,6 +8482,7 @@ synonym: "astereognosia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "somatosensory agnosia" EXACT [DOID:0060150] xref: DOID:0060150 {source="MONDO:equivalentTo"} xref: HP:0010527 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:756147896 {source="MONDO:equivalentTo"} is_a: MONDO:0005638 {source="DOID:0060150", source="MONDO:Entailed", source="MONDO:Redundant"} ! agnosia intersection_of: MONDO:0005638 ! agnosia intersection_of: disease_has_major_feature HP:0010527 ! Astereognosis @@ -8546,6 +8598,7 @@ synonym: "Jonston's alopecia" RELATED [MESH:C531609] synonym: "marginal alopecia" RELATED [MESH:C531609] synonym: "patchy alopecia" RELATED [MESH:C531609] xref: DOID:0060157 {source="MONDO:equivalentTo"} +xref: icd11.foundation:666274267 {source="MONDO:equivalentTo"} xref: MESH:C531609 {source="DOID:0060157", source="MONDO:equivalentTo"} xref: SCTID:201138007 {source="DOID:0060157"} xref: SCTID:403331000 {source="DOID:0060157"} @@ -8603,6 +8656,7 @@ synonym: "dysmorphic syndrome" EXACT [DOID:0060163] synonym: "dysmorphophobia" EXACT [DOID:0060163] xref: DOID:0060163 {source="MONDO:equivalentTo"} xref: ICD10CM:F45.22 {source="MONDO:equivalentTo"} +xref: icd11.foundation:731724655 {source="MONDO:equivalentTo"} xref: MESH:D057215 {source="MONDO:equivalentTo"} xref: SCTID:83482000 {source="MONDO:equivalentTo"} is_a: MONDO:0003117 {source="DOID:0060163", source="MESH:D057215"} ! somatoform disorder @@ -8696,6 +8750,7 @@ synonym: "hemiplegic-ophthalmoplegic migraine" RELATED [https://orcid.org/0000-0 synonym: "hereditary hemiplegic migraine" EXACT [MONDO:patterns/hereditary] xref: DOID:0060178 {source="MONDO:equivalentTo"} xref: ICD10CM:G43.8 {source="DOID:0060178"} +xref: icd11.foundation:1827007904 {source="MONDO:equivalentTo"} xref: ICD9:346.8 {source="DOID:0060178"} xref: NCIT:C117009 {source="MONDO:equivalentTo"} xref: OMIMPS:141500 {source="MONDO:equivalentTo"} @@ -8741,6 +8796,7 @@ subset: orphanet_rare {source="Orphanet:58220"} subset: rare xref: DOID:0060182 {source="MONDO:equivalentTo"} xref: EFO:1001295 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1122828822 {source="MONDO:equivalentTo"} xref: ICD9:558.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D046728 {source="MONDO:equivalentTo", source="DOID:0060182"} xref: NCIT:C38504 {source="MONDO:equivalentTo", source="DOID:0060182"} @@ -8759,6 +8815,7 @@ xref: DOID:0060183 {source="MONDO:equivalentTo"} xref: EFO:1001293 {source="MONDO:equivalentTo"} xref: ICD10CM:K52.831 {source="MONDO:equivalentTo"} xref: ICD10CM:K52.89 {source="DOID:0060183"} +xref: icd11.foundation:1322041450 {source="MONDO:equivalentTo"} xref: ICD9:558.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10048928 {source="DOID:0060183"} xref: MESH:D046729 {source="MONDO:equivalentTo", source="DOID:0060183"} @@ -8779,6 +8836,7 @@ xref: DOID:0060184 {source="MONDO:equivalentTo"} xref: EFO:1001294 {source="MONDO:equivalentTo"} xref: ICD10CM:K52.832 {source="MONDO:equivalentTo"} xref: ICD10CM:K52.89 {source="DOID:0060184"} +xref: icd11.foundation:1629251056 {source="MONDO:equivalentTo"} xref: ICD9:558.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10025268 {source="DOID:0060184"} xref: MESH:D046730 {source="MONDO:equivalentTo", source="DOID:0060184"} @@ -8847,6 +8905,7 @@ name: diversion colitis def: "A colitis which can occur as a complication of ileostomy or colostomy." [http://en.wikipedia.org/wiki/Diversion_colitis] xref: DOID:0060187 {source="MONDO:equivalentTo"} xref: ICD10CM:K52 {source="DOID:0060187"} +xref: icd11.foundation:553304993 {source="MONDO:equivalentTo"} xref: ICD9:558 {source="DOID:0060187"} xref: ICD9:558.9 {source="DOID:0060187", source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:51290000 {source="DOID:0060187", source="MONDO:equivalentTo"} @@ -8952,6 +9011,7 @@ name: agraphia def: "An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell." [DOID:0060223, http://en.wikipedia.org/wiki/Agraphia, PMID:21507544] xref: DOID:0060223 {source="MONDO:equivalentTo"} xref: ICD10CM:R48.8 {source="DOID:0060223"} +xref: icd11.foundation:1372096058 {source="MONDO:equivalentTo"} xref: MESH:D000381 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} is_a: MONDO:0000599 {source="DOID:0060223"} ! writing disorder @@ -8983,6 +9043,7 @@ replaced_by: MONDO:0008947 id: MONDO:0000721 name: xanthinuria def: "A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine." [https://www.sciencedirect.com/topics/medicine-and-dentistry/xanthinuria] +xref: icd11.foundation:1565213608 {source="MONDO:equivalentTo"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:190919008 {source="MONDO:equivalentTo"} is_a: MONDO:0005066 {source="MONDO:Redundant"} ! metabolic disease @@ -9142,6 +9203,7 @@ def: "A mitochondrial oxidative phosphorylation disorder in which multiple mitoc subset: nord_rare {source="MONDO:NORD"} subset: rare xref: DOID:0060286 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1953023896 {source="MONDO:equivalentTo"} xref: OMIMPS:609060 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} is_a: MONDO:0016387 {source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial oxidative phosphorylation disorder relationship: has_characteristic MONDO:0021152 {source="OMIMPS:609060"} ! inherited @@ -9156,6 +9218,7 @@ synonym: "flat cornea" EXACT [DOID:0060287] xref: DOID:0060287 {source="MONDO:equivalentTo"} xref: HP:0007720 {source="DOID:0060287", source="MONDO:otherHierarchy"} xref: ICD10CM:Q13.4 {source="DOID:0060287", source="MONDO:equivalentTo", source="Orphanet:53691"} +xref: icd11.foundation:262157734 {source="MONDO:equivalentTo"} xref: OMIMPS:121400 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:53691 {source="DOID:0060287", source="MONDO:equivalentTo"} xref: SCTID:204145006 {source="MONDO:equivalentTo"} @@ -9228,6 +9291,7 @@ synonym: "inflammation of palatine uvula" EXACT [] synonym: "palatine uvula inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:0060310 {source="MONDO:equivalentTo"} xref: ICD10CM:K12.2 {source="DOID:0060310"} +xref: icd11.foundation:776797866 {source="MONDO:equivalentTo"} xref: ICD9:528.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10051962 {source="DOID:0060310"} xref: NCIT:C128385 {source="MONDO:equivalentTo"} @@ -9270,6 +9334,7 @@ synonym: "perleche" EXACT [NCIT:C112198] synonym: "perlèche" EXACT [NCIT:C112198] xref: DOID:0060312 {source="MONDO:equivalentTo"} xref: ICD10CM:K13.0 {source="DOID:0060312"} +xref: icd11.foundation:591060439 {source="MONDO:equivalentTo"} xref: MESH:D002613 {source="DOID:0060312"} xref: NCIT:C112198 {source="MONDO:equivalentTo"} xref: SCTID:155664000 {source="DOID:0060312"} @@ -9345,6 +9410,7 @@ synonym: "cardiopulmonary arrest" EXACT [DOID:0060319] synonym: "circulatory arrest" EXACT [DOID:0060319] xref: DOID:0060319 {source="MONDO:equivalentTo"} xref: ICD10CM:I46 {source="MONDO:equivalentTo", source="DOID:0060319"} +xref: icd11.foundation:395422191 {source="MONDO:equivalentTo"} xref: ICD9:427.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:0060319"} xref: MESH:D006323 {source="MONDO:equivalentTo", source="DOID:0060319"} xref: NCIT:C50479 {source="MONDO:otherHierarchy", source="DOID:0060319"} @@ -9467,6 +9533,7 @@ id: MONDO:0000749 name: breast abscess def: "A breast disease characterized by a collection of pus in the breast." [DOID:0060323, http://en.wikipedia.org/wiki/Mastitis#Breast_abscess] xref: DOID:0060323 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1033306788 {source="MONDO:equivalentTo"} xref: SCTID:28432003 {source="MONDO:equivalentTo"} xref: UMLS:C0151463 {source="MONDO:equivalentTo"} is_a: MONDO:0002657 {source="DOID:0060323"} ! breast disorder @@ -9549,6 +9616,7 @@ xref: DOID:0060328 {source="MONDO:equivalentTo"} xref: GARD:20568 {source="Orphanet:228113"} xref: HP:0010447 {source="MONDO:otherHierarchy", source="DOID:0060328"} xref: ICD10CM:K60.3 {source="MONDO:equivalentTo", source="DOID:0060328"} +xref: icd11.foundation:206903882 {source="MONDO:equivalentTo"} xref: icd11.foundation:206903882 {source="MONDO:equivalentTo", source="Orphanet:228113"} xref: MESH:D012003 {source="MONDO:equivalentTo"} xref: NCIT:C60785 {source="MONDO:equivalentTo"} @@ -9569,6 +9637,7 @@ xref: DOID:0060329 {source="MONDO:equivalentTo"} xref: ICD10CM:O00 {source="DOID:0060329"} xref: ICD10CM:O00-O08 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:O00.9 {source="DOID:0060329"} +xref: icd11.foundation:1563334645 {source="MONDO:equivalentTo"} xref: ICD9:633 {source="DOID:0060329"} xref: ICD9:633.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:633.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:0060329"} @@ -9625,6 +9694,7 @@ synonym: "epithelioid Angiomatoses, bacillary" RELATED [MESH:D016917] synonym: "epithelioid angiomatosis" EXACT [MESH:D016917, NCIT:C3477] synonym: "epithelioid angiomatosis, bacillary" RELATED [MESH:D016917] xref: DOID:0060345 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1416616903 {source="MONDO:equivalentTo"} xref: ICD9:083.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016917 {source="DOID:0060345", source="MONDO:equivalentTo"} xref: NCIT:C3477 {source="DOID:0060345", source="MONDO:equivalentTo"} @@ -10236,6 +10306,7 @@ synonym: "purpura gangrenosa" EXACT [DOID:0060538] xref: DOID:0060538 {source="MONDO:equivalentTo"} xref: EFO:1001913 {source="MONDO:equivalentTo"} xref: ICD10CM:D65 {source="DOID:0060538"} +xref: icd11.foundation:1293848111 {source="MONDO:equivalentTo"} xref: MESH:D055665 {source="MONDO:equivalentTo", source="DOID:0060538"} xref: SCTID:13507004 {source="MONDO:equivalentTo"} is_a: MONDO:0001243 {source="https://orcid.org/0000-0002-6601-2165"} ! disseminated intravascular coagulation @@ -10399,6 +10470,7 @@ def: "A rare neural tube defect during pregnancy, resulting in the absence of a synonym: "anencephalus" EXACT [NCIT:C84560] xref: DOID:0060668 {source="MONDO:equivalentTo"} xref: ICD10CM:00.0 {source="DOID:0060668"} +xref: icd11.foundation:1292761836 {source="MONDO:equivalentTo"} xref: MESH:D000757 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C84560 {source="MONDO:equivalentTo"} xref: OMIMPS:206500 {source="MONDO:equivalentTo"} @@ -10420,6 +10492,7 @@ synonym: "cerebral capillary malformations" EXACT [DOID:0060669] synonym: "cerebral cavernous malformation" EXACT CLINGEN_LABEL [] synonym: "familial cavernous angioma" RELATED [DOID:0060669] xref: DOID:0060669 {source="MONDO:equivalentTo"} +xref: icd11.foundation:916773262 {source="MONDO:equivalentTo"} xref: NCIT:C84626 {source="MONDO:equivalentTo"} xref: Orphanet:164 {source="MONDO:equivalentObsolete"} xref: UMLS:C2919945 {source="NCIT:C84626", source="MONDO:notFoundInDiseaseSubset"} @@ -10707,6 +10780,7 @@ xref: DOID:0080031 {source="MONDO:equivalentTo"} xref: GARD:6444 {source="Orphanet:249"} xref: ICD10CM:Q78.1 {source="Orphanet:249", source="Orphanet:249/e", source="Orphanet:249/specific"} xref: icd11.foundation:1704766818 {source="Orphanet:249", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"} +xref: icd11.foundation:241782822 {source="MONDO:equivalentTo"} xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10016664 {source="Orphanet:249", source="Orphanet:249/e"} xref: MESH:D005357 {source="Orphanet:249", source="MONDO:equivalentTo", source="Orphanet:249/e"} @@ -11883,6 +11957,7 @@ synonym: "pie" EXACT [NCIT:C34571] synonym: "pulmonary interstitial emphysema" EXACT [NCIT:C34571] xref: DOID:10030 {source="MONDO:equivalentTo"} xref: ICD10CM:J98.2 {source="MONDO:equivalentTo", source="DOID:10030"} +xref: icd11.foundation:2008095771 {source="MONDO:equivalentTo"} xref: ICD9:518.1 {source="DOID:10030"} xref: NCIT:C34571 {source="MONDO:equivalentTo", source="DOID:10030"} xref: SCTID:11211003 {source="DOID:10030"} @@ -11896,6 +11971,7 @@ id: MONDO:0000924 name: compensatory emphysema xref: DOID:10031 {source="MONDO:equivalentTo"} xref: ICD10CM:J98.3 {source="MONDO:equivalentTo", source="DOID:10031"} +xref: icd11.foundation:318427535 {source="MONDO:equivalentTo"} xref: ICD9:518.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10031"} xref: SCTID:33325001 {source="MONDO:equivalentTo", source="DOID:10031"} xref: UMLS:C0155918 {source="MONDO:equivalentTo", source="DOID:10031"} @@ -11931,6 +12007,7 @@ subset: inferred_rare subset: rare xref: DOID:10035 {source="MONDO:equivalentTo"} xref: ICD10CM:A52.2 {source="MONDO:equivalentTo", source="DOID:10035"} +xref: icd11.foundation:453651926 {source="MONDO:equivalentTo"} xref: ICD9:094.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10035"} xref: MESH:D009494 {source="DOID:10035"} xref: SCTID:37754005 {source="MONDO:equivalentTo", source="DOID:10035"} @@ -12156,6 +12233,7 @@ def: "An abscess that is located in the intracranial space." [NCIT:P378] subset: inferred_rare subset: rare xref: DOID:10095 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1128677700 {source="MONDO:equivalentTo"} xref: ICD9:324.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10095"} xref: NCIT:C34734 {source="MONDO:equivalentTo", source="DOID:10095"} xref: SCTID:192738001 {source="DOID:10095"} @@ -12345,6 +12423,7 @@ id: MONDO:0000949 name: conjunctival degeneration xref: DOID:10139 {source="MONDO:equivalentTo"} xref: ICD10CM:H11.10 {source="DOID:10139"} +xref: icd11.foundation:763685773 {source="MONDO:equivalentTo"} xref: ICD9:372.50 {source="DOID:10139", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:193886006 {source="DOID:10139"} xref: SCTID:40787005 {source="DOID:10139", source="MONDO:equivalentTo"} @@ -12548,6 +12627,7 @@ synonym: "Juxtapapillary focal retinitis and retinochoroiditis" NARROW [DOID:101 synonym: "papilloretinitis" NARROW [DOID:10176] xref: DOID:10176 {source="MONDO:equivalentTo"} xref: ICD10CM:H30.9 {source="DOID:10176"} +xref: icd11.foundation:418437487 {source="MONDO:equivalentTo"} xref: ICD9:363.05 {source="http://eyewiki.aao.org/Neuroretinitis"} xref: MESH:D012173 {source="MONDO:relatedTo", source="DOID:10176"} xref: SCTID:410471004 {source="DOID:10176"} @@ -12617,6 +12697,7 @@ def: "A benign circumscribed tumor composed of spindled cells, adipocytes, and c synonym: "spindle cell lipoma" EXACT [DOID:10184, NCIT:C4254] synonym: "spindle cell lipoma (morphologic abnormality)" EXACT [DOID:10184] xref: DOID:10184 {source="MONDO:equivalentTo"} +xref: icd11.foundation:236799898 {source="MONDO:equivalentTo"} xref: ICDO:8857/0 {source="NCIT:C4254"} xref: NCIT:C4254 {source="MONDO:equivalentTo", source="DOID:10184"} xref: SCTID:27313007 {source="DOID:10184"} @@ -12703,6 +12784,7 @@ def: "A benign circumscribed tumor characterized by small spindle cells, rounded synonym: "pleomorphic lipoma" EXACT [DOID:10192, NCIT:C3703] synonym: "pleomorphic lipoma (morphologic abnormality)" EXACT [DOID:10192] xref: DOID:10192 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1257531697 {source="MONDO:equivalentTo"} xref: ICDO:8854/0 {source="NCIT:C3703"} xref: MESH:D008067 {source="DOID:10192"} xref: NCIT:C3703 {source="MONDO:equivalentTo", source="DOID:10192"} @@ -12888,6 +12970,7 @@ id: MONDO:0000977 name: chondroid lipoma def: "A rare benign adipose tissue neoplasm characterized by nests and cord of abundant univacuolated and multivacuolated lipoblasts and mature adipocytes in a prominent myxoid to hyalinized chondroid matrix admix. It predominantly affects females." [NCIT:P378] xref: DOID:10208 {source="MONDO:equivalentTo"} +xref: icd11.foundation:292443838 {source="MONDO:equivalentTo"} xref: ICDO:8862/0 {source="NCIT:C6503"} xref: NCIT:C6503 {source="MONDO:equivalentTo", source="DOID:10208"} xref: SCTID:128746001 {source="DOID:10208"} @@ -13080,6 +13163,7 @@ synonym: "pleuritis" EXACT [NCIT:C26860] xref: DOID:10247 {source="MONDO:equivalentTo"} xref: EFO:1001825 {source="MONDO:equivalentTo"} xref: ICD10CM:R09.1 {source="MONDO:equivalentTo"} +xref: icd11.foundation:317852053 {source="MONDO:equivalentTo"} xref: ICD9:511.8 {source="DOID:10247"} xref: MESH:D010998 {source="MONDO:equivalentTo"} xref: NCIT:C26860 {source="MONDO:equivalentTo"} @@ -13103,6 +13187,7 @@ def: "A disorder characterized by a change in the gallbladder wall due to excess synonym: "strawberry gallbladder" EXACT [DOID:10254, ICD9CM:575.6] xref: DOID:10254 {source="MONDO:equivalentTo"} xref: ICD10CM:K82.4 {source="MONDO:equivalentTo", source="DOID:10254"} +xref: icd11.foundation:2109132211 {source="MONDO:equivalentTo"} xref: ICD9:575.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10254"} xref: SCTID:61565001 {source="MONDO:equivalentTo", source="DOID:10254"} xref: UMLS:C0152456 {source="MONDO:equivalentTo", source="DOID:10254"} @@ -13339,6 +13424,7 @@ name: monocular esotropia def: "A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a 'cross-eye' appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze." [MESH:D004948] xref: DOID:10293 {source="MONDO:equivalentTo"} xref: ICD10CM:H50.01 {source="DOID:10293"} +xref: icd11.foundation:813817121 {source="MONDO:equivalentTo"} xref: ICD9:378.01 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10293"} xref: MESH:D004948 {source="DOID:10293"} xref: SCTID:194075001 {source="DOID:10293"} @@ -13473,6 +13559,7 @@ synonym: "chronic meningitis (disease)" EXACT [] synonym: "meningitis (disease), chronic" EXACT [MONDO:patterns/chronic] xref: DOID:10341 {source="MONDO:equivalentTo"} xref: ICD10CM:G03.1 {source="MONDO:equivalentTo", source="DOID:10341"} +xref: icd11.foundation:1597945150 {source="MONDO:equivalentTo"} xref: ICD9:322.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10341"} xref: SCTID:21664006 {source="MONDO:equivalentTo", source="DOID:10341"} xref: UMLS:C0154653 {source="MONDO:equivalentTo", source="DOID:10341"} @@ -13737,6 +13824,7 @@ synonym: "primary pneumonic plague" NARROW [DOID:10398] synonym: "secondary pneumonic plague" NARROW [DOID:10398] xref: DOID:10398 {source="MONDO:equivalentTo"} xref: ICD10CM:A20.2 {source="MONDO:equivalentTo", source="DOID:10398"} +xref: icd11.foundation:1983098110 {source="MONDO:equivalentTo"} xref: ICD9:020.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10398"} xref: ICD9:020.4 {source="DOID:10398"} xref: ICD9:020.5 {source="DOID:10398"} @@ -13789,6 +13877,7 @@ synonym: "gonorrhoea of seminal vesicle" EXACT OMO:0003005 [] synonym: "seminal vesicle gonorrhea" EXACT [MONDO:patterns/location] synonym: "seminal vesicle gonorrhoea" EXACT OMO:0003005 [] xref: DOID:10400 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1226540022 {source="MONDO:equivalentTo"} xref: SCTID:301990003 {source="DOID:10400", source="MONDO:equivalentTo"} xref: UMLS:C0578661 {source="DOID:10400", source="MONDO:equivalentTo"} is_a: MONDO:0004277 {source="DOID:10400", source="MONDO:Redundant"} ! gonorrhea @@ -13903,6 +13992,7 @@ id: MONDO:0001033 name: mycotic corneal ulcer xref: DOID:10440 {source="MONDO:equivalentTo"} xref: ICD10CM:H16.06 {source="DOID:10440"} +xref: icd11.foundation:1756043578 {source="MONDO:equivalentTo"} xref: ICD9:370.05 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10440"} xref: SCTID:397977001 {source="MONDO:equivalentTo", source="DOID:10440"} xref: SCTID:59939007 {source="DOID:10440"} @@ -13914,6 +14004,7 @@ id: MONDO:0001034 name: marginal corneal ulcer xref: DOID:10441 {source="MONDO:equivalentTo"} xref: ICD10CM:H16.04 {source="DOID:10441"} +xref: icd11.foundation:2035123281 {source="MONDO:equivalentTo"} xref: ICD9:370.01 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10441"} xref: SCTID:47398006 {source="MONDO:equivalentTo", source="DOID:10441"} xref: UMLS:C0155067 {source="MONDO:equivalentTo", source="DOID:10441"} @@ -13941,6 +14032,7 @@ subset: inferred_rare subset: rare xref: DOID:10443 {source="MONDO:equivalentTo"} xref: ICD10CM:H20.05 {source="DOID:10443"} +xref: icd11.foundation:803985395 {source="MONDO:equivalentTo"} xref: ICD9:364.05 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10443"} xref: NCIT:C50593 {source="MONDO:equivalentTo", source="DOID:10443"} xref: SCTID:87807004 {source="MONDO:equivalentTo", source="DOID:10443"} @@ -13953,6 +14045,7 @@ id: MONDO:0001037 name: ring corneal ulcer xref: DOID:10444 {source="MONDO:equivalentTo"} xref: ICD10CM:H16.02 {source="DOID:10444"} +xref: icd11.foundation:1877531217 {source="MONDO:equivalentTo"} xref: ICD9:370.02 {source="DOID:10444", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:111520007 {source="DOID:10444", source="MONDO:equivalentTo"} xref: SCTID:193760005 {source="DOID:10444"} @@ -13964,6 +14057,7 @@ id: MONDO:0001038 name: perforated corneal ulcer xref: DOID:10445 {source="MONDO:equivalentTo"} xref: ICD10CM:H16.07 {source="DOID:10445"} +xref: icd11.foundation:232838320 {source="MONDO:equivalentTo"} xref: ICD9:370.06 {source="DOID:10445", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:46606001 {source="DOID:10445", source="MONDO:equivalentTo"} xref: UMLS:C0151844 {source="DOID:10445", source="MONDO:equivalentTo"} @@ -14048,6 +14142,7 @@ synonym: "tendinitis of patella" EXACT [MONDO:design_pattern] xref: DOID:10471 {source="MONDO:equivalentTo"} xref: ICD10CM:M76.5 {source="MONDO:equivalentTo", source="DOID:10471"} xref: ICD10CM:M76.50 {source="DOID:10471"} +xref: icd11.foundation:1366847963 {source="MONDO:equivalentTo"} xref: ICD9:726.64 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10471"} xref: SCTID:156662006 {source="DOID:10471"} xref: SCTID:268089006 {source="DOID:10471"} @@ -14122,6 +14217,7 @@ synonym: "congenital or infantile occlusion of anus" EXACT [DOID:10488] synonym: "imperforate anus" EXACT [DOID:10488, NCIT:C84784] xref: DOID:10488 {source="MONDO:equivalentTo"} xref: ICD10CM:Q42.3 {source="DOID:10488"} +xref: icd11.foundation:515168801 {source="MONDO:equivalentTo"} xref: MESH:D001006 {source="DOID:10488", source="MONDO:equivalentTo"} xref: NCIT:C84784 {source="DOID:10488", source="MONDO:equivalentTo"} xref: NORD:1299 {source="MONDO:NORD"} @@ -14170,6 +14266,7 @@ synonym: "Dressler's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, M synonym: "postmyocardial infarction syndrome" EXACT [DOID:10507, ICD9CM:411.0] xref: DOID:10507 {source="MONDO:equivalentTo"} xref: ICD10CM:I24.1 {source="MONDO:equivalentTo", source="DOID:10507"} +xref: icd11.foundation:1353640147 {source="MONDO:equivalentTo"} xref: ICD9:411.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10507"} xref: SCTID:66189004 {source="MONDO:equivalentTo", source="DOID:10507"} xref: UMLS:C0152107 {source="MONDO:equivalentTo", source="DOID:10507"} @@ -14182,6 +14279,7 @@ def: "An otitis externa which involves infection of the external ear that has sp xref: DOID:10516 {source="MONDO:equivalentTo"} xref: ICD10CM:H60.2 {source="MONDO:equivalentTo", source="DOID:10516"} xref: ICD10CM:H60.20 {source="DOID:10516"} +xref: icd11.foundation:984580942 {source="MONDO:equivalentTo"} xref: ICD9:380.14 {source="MONDO:equivalentTo", source="DOID:10516", source="MONDO:i2s"} xref: SCTID:194206006 {source="DOID:10516"} xref: SCTID:94146005 {source="MONDO:equivalentTo", source="DOID:10516"} @@ -14649,6 +14747,7 @@ def: "A pre-eclampsia characterized by the presence of hypertension without evid subset: inferred_rare subset: rare xref: DOID:10590 {source="MONDO:equivalentTo"} +xref: icd11.foundation:690705840 {source="MONDO:equivalentTo"} xref: ICD9:642.40 {source="DOID:10590"} xref: ICD9:642.41 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:642.42 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -14722,6 +14821,7 @@ synonym: "glucose: malabsorption" EXACT [DOID:10603] synonym: "malabsorption of glucose" EXACT [DOID:10603] xref: DOID:10603 {source="MONDO:equivalentTo"} xref: ICD10CM:R73.09 {source="DOID:10603"} +xref: icd11.foundation:1392580302 {source="MONDO:equivalentTo"} xref: ICD9:271.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D018149 {source="DOID:10603", source="MONDO:equivalentTo"} xref: NCIT:C34646 {source="DOID:10603", source="MONDO:equivalentTo"} @@ -14753,6 +14853,7 @@ synonym: "tropical enteropathy" RELATED [GARD:0007824] synonym: "tropical steatorrhea" EXACT [DOID:10607] xref: DOID:10607 {source="MONDO:equivalentTo"} xref: ICD10CM:K90.1 {source="MONDO:equivalentTo", source="DOID:10607"} +xref: icd11.foundation:316377284 {source="MONDO:equivalentTo"} xref: ICD9:579.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10607"} xref: MESH:D013182 {source="MONDO:equivalentTo", source="DOID:10607"} xref: NCIT:C45428 {source="MONDO:equivalentTo", source="DOID:10607"} @@ -14793,6 +14894,7 @@ synonym: "gonococcal cervicitis" RELATED EXCLUDE [DOID:10615] synonym: "gonococcal cervicitis (acute)" EXACT [DOID:10615, ICD9CM:098.15] synonym: "gonococcal cervicitis, acute" EXACT [MONDO:design_pattern, MONDO:patterns/acute] xref: DOID:10615 {source="MONDO:equivalentTo"} +xref: icd11.foundation:2071927498 {source="MONDO:equivalentTo"} xref: ICD9:098.15 {source="MONDO:equivalentTo", source="DOID:10615", source="MONDO:i2s"} xref: SCTID:20943002 {source="MONDO:equivalentTo", source="DOID:10615"} xref: UMLS:C0153195 {source="MONDO:equivalentTo", source="DOID:10615"} @@ -14809,6 +14911,7 @@ def: "Acute inflammation of the cervix. Clinical manifestations include mucopuru synonym: "acute cervicitis (disease)" EXACT [] synonym: "cervicitis (disease), acute" EXACT [MONDO:patterns/acute] xref: DOID:10616 {source="MONDO:equivalentTo"} +xref: icd11.foundation:411422080 {source="MONDO:equivalentTo"} xref: NCIT:C27056 {source="DOID:10616", source="MONDO:equivalentTo"} xref: SCTID:19272000 {source="DOID:10616", source="MONDO:equivalentTo"} xref: UMLS:C0269061 {source="NCIT:C27056", source="DOID:10616", source="MONDO:equivalentTo"} @@ -15100,6 +15203,7 @@ name: separation anxiety disorder def: "An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning." [NCIT:C35014] xref: DOID:10685 {source="MONDO:equivalentTo"} xref: EFO:1001916 {source="MONDO:equivalentTo"} +xref: icd11.foundation:830200631 {source="MONDO:equivalentTo"} xref: MESH:D001010 {source="MONDO:equivalentTo"} xref: NCIT:C35014 {source="MONDO:equivalentTo"} xref: SCTID:11806006 {source="MONDO:equivalentTo"} @@ -15115,6 +15219,7 @@ synonym: "Galactocoele" RELATED [GARD:0008401] synonym: "lacteal cyst" RELATED [GARD:0008401] xref: DOID:10686 {source="MONDO:equivalentTo"} xref: ICD10CM:N64.89 {source="DOID:10686"} +xref: icd11.foundation:1987155556 {source="MONDO:equivalentTo"} xref: ICD9:611.5 {source="DOID:10686", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:C535998 {source="DOID:10686", source="MONDO:equivalentTo"} xref: NCIT:C3515 {source="DOID:10686", source="MONDO:equivalentTo"} @@ -15144,6 +15249,7 @@ synonym: "pregnancy-induced gigantomastia (subtype)" RELATED [GARD:0009450] synonym: "puberty-induced gigantomastia (subtype)" RELATED [GARD:0009450] xref: DOID:10688 {source="MONDO:equivalentTo"} xref: ICD10CM:N62 {source="DOID:10688", source="MONDO:equivalentTo"} +xref: icd11.foundation:2078176266 {source="MONDO:equivalentTo"} xref: ICD9:611.1 {source="DOID:10688", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3125 {source="DOID:10688", source="MONDO:equivalentTo"} xref: SCTID:155963008 {source="DOID:10688"} @@ -15162,6 +15268,7 @@ synonym: "breast fat necrosis" EXACT [DOID:10691, NCIT:C3661] synonym: "fat Necrosis of the breast" EXACT [NCIT:C3661] xref: DOID:10691 {source="MONDO:equivalentTo"} xref: ICD10CM:N64.1 {source="MONDO:equivalentTo", source="DOID:10691"} +xref: icd11.foundation:149925294 {source="MONDO:equivalentTo"} xref: ICD9:611.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10691"} xref: NCIT:C3661 {source="MONDO:equivalentTo", source="DOID:10691"} xref: SCTID:21381006 {source="MONDO:equivalentTo", source="DOID:10691"} @@ -15188,6 +15295,7 @@ synonym: "Lambliases" RELATED [MESH:D005873] synonym: "lambliasis" RELATED [MESH:D005873] xref: DOID:10718 {source="MONDO:equivalentTo"} xref: ICD10CM:A07.1 {source="DOID:10718"} +xref: icd11.foundation:433310499 {source="MONDO:equivalentTo"} xref: ICD9:007.1 {source="DOID:10718"} xref: MESH:D005873 {source="MONDO:equivalentTo", source="DOID:10718"} xref: SCTID:10679007 {source="MONDO:equivalentTo", source="DOID:10718"} @@ -15238,6 +15346,7 @@ synonym: "renal failure syndrome" EXACT [NCIT:C4376] synonym: "renal insufficiency" EXACT [NCIT:C4376] xref: DOID:1074 {source="MONDO:equivalentTo"} xref: ICD10CM:N19 {source="DOID:1074"} +xref: icd11.foundation:761526554 {source="MONDO:equivalentTo"} xref: ICD9:404.12 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:404.13 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:586 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1074"} @@ -15297,6 +15406,7 @@ xref: ICD10CM:H70.21 {source="DOID:10755"} xref: ICD10CM:H70.219 {source="DOID:10755"} xref: ICD10CM:H70.22 {source="DOID:10755"} xref: ICD10CM:H70.229 {source="DOID:10755"} +xref: icd11.foundation:716546173 {source="MONDO:equivalentTo"} xref: ICD9:383.2 {source="DOID:10755"} xref: ICD9:383.20 {source="DOID:10755"} xref: ICD9:383.21 {source="DOID:10755"} @@ -15326,6 +15436,7 @@ synonym: "pyelonephritis, chronic" EXACT [MONDO:patterns/chronic] xref: DOID:1076 {source="MONDO:equivalentTo"} xref: ICD10CM:N11 {source="DOID:1076"} xref: ICD10CM:N11.9 {source="DOID:1076"} +xref: icd11.foundation:1346439976 {source="MONDO:equivalentTo"} xref: ICD9:590.0 {source="DOID:1076"} xref: NCIT:C123216 {source="DOID:1076", source="MONDO:equivalentTo"} xref: SCTID:123293005 {source="DOID:1076"} @@ -15353,6 +15464,7 @@ subset: rare synonym: "black death" EXACT [DOID:10773] xref: DOID:10773 {source="MONDO:equivalentTo"} xref: ICD10CM:A20.0 {source="MONDO:equivalentTo", source="DOID:10773"} +xref: icd11.foundation:1742025109 {source="MONDO:equivalentTo"} xref: ICD9:020.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10773"} xref: MESH:D010930 {source="DOID:10773"} xref: SCTID:50797007 {source="MONDO:equivalentTo", source="DOID:10773"} @@ -15393,6 +15505,7 @@ subset: rare synonym: "septic myocarditis" EXACT [DOID:10779] xref: DOID:10779 {source="MONDO:equivalentTo"} xref: ICD10CM:I40.0 {source="DOID:10779", source="MONDO:equivalentTo"} +xref: icd11.foundation:900037931 {source="MONDO:equivalentTo"} xref: ICD9:422.92 {source="DOID:10779", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C128380 {source="MONDO:equivalentTo"} xref: SCTID:194959002 {source="DOID:10779"} @@ -15531,6 +15644,7 @@ def: "Inflammation of the frontal sinus that typically lasts beyond eight weeks. synonym: "frontal sinusitis, chronic" EXACT [MONDO:patterns/chronic] xref: DOID:10790 {source="MONDO:equivalentTo"} xref: ICD10CM:J32.1 {source="MONDO:equivalentTo", source="DOID:10790"} +xref: icd11.foundation:881075891 {source="MONDO:equivalentTo"} xref: ICD9:473.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10790"} xref: NCIT:C34473 {source="MONDO:equivalentTo", source="DOID:10790"} xref: SCTID:155527004 {source="DOID:10790"} @@ -15566,6 +15680,7 @@ synonym: "chronic antritis" EXACT [DOID:10792] synonym: "maxillary sinusitis, chronic" EXACT [MONDO:patterns/chronic] xref: DOID:10792 {source="MONDO:equivalentTo"} xref: ICD10CM:J32.0 {source="MONDO:equivalentTo", source="DOID:10792"} +xref: icd11.foundation:1372580647 {source="MONDO:equivalentTo"} xref: ICD9:473.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10792"} xref: NCIT:C34477 {source="MONDO:equivalentTo", source="DOID:10792"} xref: SCTID:155526008 {source="DOID:10792"} @@ -15586,6 +15701,7 @@ synonym: "sphenoid sinusitis, chronic" EXACT [MONDO:patterns/chronic] synonym: "sphenoidal sinus-chr." EXACT [DOID:10793] xref: DOID:10793 {source="MONDO:equivalentTo"} xref: ICD10CM:J32.3 {source="MONDO:equivalentTo", source="DOID:10793"} +xref: icd11.foundation:627227610 {source="MONDO:equivalentTo"} xref: ICD9:473.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10793"} xref: NCIT:C34480 {source="MONDO:equivalentTo", source="DOID:10793"} xref: SCTID:155528009 {source="DOID:10793"} @@ -15659,6 +15775,7 @@ synonym: "stomach peptic ulcer disease" EXACT [MONDO:patterns/location] xref: DOID:10808 {source="MONDO:equivalentTo"} xref: HP:0002592 {source="MONDO:otherHierarchy"} xref: ICD10CM:K25 {source="MONDO:equivalentTo", source="DOID:10808"} +xref: icd11.foundation:1437411258 {source="MONDO:equivalentTo"} xref: ICD9:531 {source="DOID:10808"} xref: MESH:D013276 {source="MONDO:equivalentTo", source="DOID:10808"} xref: NCIT:C3388 {source="MONDO:equivalentTo", source="DOID:10808"} @@ -15808,6 +15925,7 @@ synonym: "primary hypertension" EXACT [DOID:10825, NCIT:C3478, Wikipedia:Essenti xref: DOID:10825 {source="MONDO:equivalentTo"} xref: EFO:1002032 {source="MONDO:equivalentTo"} xref: ICD10CM:I10 {source="DOID:10825"} +xref: icd11.foundation:761947693 {source="MONDO:equivalentTo"} xref: ICD9:401 {source="DOID:10825"} xref: ICD9:401.9 {source="DOID:10825", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D000075222 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} @@ -15856,6 +15974,7 @@ synonym: "Murray Valley encephalitis virus disease or disorder" EXACT [] synonym: "Murray Valley encephalitis virus infectious disease" EXACT [] xref: DOID:10842 {source="MONDO:equivalentTo"} xref: ICD10CM:A83.4 {source="DOID:10842", source="MONDO:equivalentTo"} +xref: icd11.foundation:1040970454 {source="MONDO:equivalentTo"} xref: ICD9:062.4 {source="DOID:10842"} xref: SCTID:66454007 {source="DOID:10842", source="MONDO:equivalentTo"} xref: UMLS:C0153066 {source="DOID:10842", source="MONDO:equivalentTo"} @@ -16069,6 +16188,7 @@ synonym: "microencephaly" EXACT [DOID:10907] xref: DOID:10907 {source="MONDO:equivalentTo"} xref: HP:0000252 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q02 {source="DOID:10907"} +xref: icd11.foundation:179350437 {source="MONDO:equivalentTo"} xref: ICD9:742.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10907"} xref: MESH:D008831 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="DOID:10907"} xref: NCIT:C85874 {source="MONDO:equivalentTo", source="DOID:10907"} @@ -16092,6 +16212,7 @@ synonym: "hydrocephalus, X-linked" NARROW [DOID:10908, MESH:C536078] xref: DOID:10908 {source="MONDO:equivalentTo"} xref: ICD10CM:G91 {source="MONDO:equivalentTo", source="DOID:10908"} xref: ICD10CM:G91.9 {source="DOID:10908"} +xref: icd11.foundation:574533444 {source="MONDO:equivalentTo"} xref: MESH:D006849 {source="MONDO:equivalentTo", source="DOID:10908"} xref: NCIT:C3111 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:10908"} xref: Orphanet:2182 {source="DOID:10908"} @@ -16132,6 +16253,7 @@ synonym: "Korsakoff's psychosis or syndrome" EXACT [DOID:10914] xref: DOID:10914 {source="MONDO:equivalentTo"} xref: EFO:1001454 {source="MONDO:equivalentTo"} xref: ICD10CM:R41.3 {source="DOID:10914"} +xref: icd11.foundation:386330688 {source="MONDO:equivalentTo"} xref: ICD9:294.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10914"} xref: MESH:D000647 {source="DOID:10914"} xref: NCIT:C2867 {source="MONDO:otherHierarchy", source="DOID:10914"} @@ -16217,6 +16339,7 @@ synonym: "chronic gastrojejunal ulcer without mention of haemorrhage or perforat synonym: "chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction" EXACT [DOID:10927, ICD9CM:534.70] xref: DOID:10927 {source="MONDO:equivalentTo"} xref: ICD10CM:K28.0 {source="MONDO:equivalentTo", source="DOID:10927"} +xref: icd11.foundation:491213123 {source="MONDO:equivalentTo"} xref: ICD9:534.0 {source="DOID:10927"} xref: SCTID:196709002 {source="DOID:10927"} xref: SCTID:4269005 {source="MONDO:equivalentTo"} @@ -16239,6 +16362,7 @@ synonym: "BPD" EXACT ABBREVIATION [NCIT:C92633] xref: DOID:10930 {source="MONDO:equivalentTo"} xref: HP:0012076 {source="MONDO:otherHierarchy"} xref: ICD10CM:F60.3 {source="DOID:10930"} +xref: icd11.foundation:189289487 {source="MONDO:equivalentTo"} xref: ICD9:301.83 {source="DOID:10930", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D001883 {source="DOID:10930", source="MONDO:equivalentTo"} xref: NCIT:C92633 {source="DOID:10930", source="MONDO:equivalentTo"} @@ -16254,6 +16378,7 @@ name: dependent personality disorder def: "A disorder characterized by an enduring pattern of an extreme need to be taken care of together with fear of separation that lead the individual to urgently seek out and submit to another person and allow that person to make decisions that impact all areas of the individual's life." [NCIT:P378] xref: DOID:10931 {source="MONDO:equivalentTo"} xref: ICD10CM:F60.7 {source="DOID:10931", source="MONDO:equivalentTo"} +xref: icd11.foundation:1283123068 {source="MONDO:equivalentTo"} xref: ICD9:301.6 {source="DOID:10931", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D003859 {source="DOID:10931", source="MONDO:equivalentTo"} xref: NCIT:C92637 {source="DOID:10931", source="MONDO:equivalentTo"} @@ -16330,6 +16455,7 @@ name: schizoid personality disorder def: "A disorder characterized by an enduring pattern of extreme social detachment and lack of involvement in interpersonal activities, coupled with emotional coldness." [NCIT:P378] xref: DOID:10936 {source="MONDO:equivalentTo"} xref: ICD10CM:F60.1 {source="MONDO:equivalentTo", source="DOID:10936"} +xref: icd11.foundation:1524611454 {source="MONDO:equivalentTo"} xref: ICD9:301.2 {source="DOID:10936"} xref: ICD9:301.20 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10936"} xref: MESH:D012557 {source="MONDO:equivalentTo", source="DOID:10936"} @@ -16366,6 +16492,7 @@ name: paranoid personality disorder def: "A disorder characterized by an enduring pattern of behavior based on the pervasive belief that the motives of others are malevolent and that they should not be trusted." [NCIT:P378] xref: DOID:10938 {source="MONDO:equivalentTo"} xref: ICD10CM:F60.0 {source="MONDO:equivalentTo", source="DOID:10938"} +xref: icd11.foundation:1066693864 {source="MONDO:equivalentTo"} xref: ICD9:301.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10938"} xref: MESH:D010260 {source="MONDO:equivalentTo", source="DOID:10938"} xref: NCIT:C92630 {source="MONDO:equivalentTo", source="DOID:10938"} @@ -16391,6 +16518,7 @@ synonym: "sociopathic personality" EXACT [DOID:10939] synonym: "Sociopathy" EXACT [NCIT:C88413] xref: DOID:10939 {source="MONDO:equivalentTo"} xref: ICD10CM:F60.2 {source="MONDO:equivalentTo", source="DOID:10939"} +xref: icd11.foundation:779282819 {source="MONDO:equivalentTo"} xref: ICD9:301.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10939"} xref: MESH:D000987 {source="MONDO:equivalentTo", source="DOID:10939"} xref: NCIT:C88413 {source="MONDO:equivalentTo", source="DOID:10939"} @@ -16493,6 +16621,7 @@ synonym: "hemiplegic cerebral palsy" EXACT [DOID:10967] synonym: "hemiplegic infantile cerebral palsy" EXACT [DOID:10967, ICD9CM:343.1] synonym: "spastic hemiplegic cerebral palsy" EXACT [DOID:10967] xref: DOID:10967 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1030700023 {source="MONDO:equivalentTo"} xref: ICD9:342.10 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:343.1 {source="DOID:10967"} xref: NCIT:C116905 {source="MONDO:equivalentTo"} @@ -16525,6 +16654,7 @@ subset: rare synonym: "infantile hemiplegia" EXACT [DOID:10969] synonym: "postnatal infantile hemiplegia" EXACT [DOID:10969] xref: DOID:10969 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1641958762 {source="MONDO:equivalentTo"} xref: ICD9:343.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10969"} xref: MESH:D006429 {source="MONDO:equivalentTo", source="DOID:10969"} xref: SCTID:155024003 {source="DOID:10969"} @@ -16596,6 +16726,7 @@ def: "Acute inflammation of the fallopian tube. It is most often caused by Neiss synonym: "salpingitis, acute" EXACT [MONDO:patterns/acute] xref: DOID:10973 {source="MONDO:equivalentTo"} xref: ICD10CM:N70.01 {source="DOID:10973", source="MONDO:equivalentTo"} +xref: icd11.foundation:1286268784 {source="MONDO:equivalentTo"} xref: NCIT:C40120 {source="DOID:10973", source="MONDO:equivalentTo"} xref: SCTID:8912009 {source="DOID:10973", source="MONDO:equivalentTo"} xref: UMLS:C0269038 {source="DOID:10973", source="MONDO:equivalentTo", source="NCIT:C40120"} @@ -16636,6 +16767,7 @@ synonym: "incipient senile cataract" EXACT [DOID:10997, ICD9CM:366.12] synonym: "water clefts" EXACT [DOID:10997] xref: DOID:10997 {source="MONDO:equivalentTo"} xref: ICD10CM:H25.09 {source="DOID:10997"} +xref: icd11.foundation:1444156961 {source="MONDO:equivalentTo"} xref: SCTID:193584004 {source="DOID:10997"} xref: SCTID:446474007 {source="MONDO:equivalentTo"} xref: SCTID:52421005 {source="DOID:10997"} @@ -16714,6 +16846,7 @@ name: bullous keratopathy def: "Keratopathy that is characterized by the presence of epithelial bullae." [NCIT:P378] xref: DOID:11031 {source="MONDO:equivalentTo"} xref: ICD10CM:H18.1 {source="MONDO:equivalentTo", source="DOID:11031"} +xref: icd11.foundation:1270454490 {source="MONDO:equivalentTo"} xref: ICD9:371.23 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11031"} xref: NCIT:C26970 {source="MONDO:equivalentTo", source="DOID:11031"} xref: SCTID:193815002 {source="DOID:11031"} @@ -16778,6 +16911,7 @@ def: "A disorder characterized by a retrospective gap in memory of important per synonym: "psychogenic amnesia" EXACT [DOID:11037] xref: DOID:11037 {source="MONDO:equivalentTo"} xref: ICD10CM:F44.0 {source="MONDO:equivalentTo", source="DOID:11037"} +xref: icd11.foundation:626975732 {source="MONDO:equivalentTo"} xref: ICD9:300.12 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11037"} xref: MESH:D000647 {source="DOID:11037"} xref: NCIT:C94328 {source="MONDO:equivalentTo", source="DOID:11037"} @@ -17004,6 +17138,7 @@ xref: ICD10CM:A77.2 {source="Orphanet:102022/btnt", source="Orphanet:102022"} xref: ICD10CM:A77.3 {source="Orphanet:102022/btnt", source="Orphanet:102022"} xref: ICD10CM:A77.8 {source="Orphanet:102022/btnt", source="Orphanet:102022"} xref: ICD10CM:A77.9 {source="DOID:11104", source="Orphanet:102022/btnt", source="Orphanet:102022"} +xref: icd11.foundation:9953620 {source="MONDO:equivalentTo"} xref: icd11.foundation:9953620 {source="MONDO:equivalentTo", source="Orphanet:102022"} xref: ICD9:082.0 {source="DOID:11104", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:083.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -17064,6 +17199,7 @@ synonym: "secondary thrombocytopenia" EXACT [DOID:11126, ICD9CM:287.4] synonym: "secondary thrombocytopenia NOS" RELATED EXCLUDE [DOID:11126] xref: DOID:11126 {source="MONDO:equivalentTo"} xref: ICD10CM:D69.5 {source="DOID:11126"} +xref: icd11.foundation:526155201 {source="MONDO:equivalentTo"} xref: ICD9:287.4 {source="DOID:11126", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:154826009 {source="DOID:11126"} xref: SCTID:191325008 {source="DOID:11126"} @@ -17098,6 +17234,7 @@ xref: DOID:11130 {source="MONDO:equivalentTo"} xref: EFO:1002034 {source="MONDO:equivalentTo"} xref: ICD10CM:I15 {source="DOID:11130"} xref: ICD10CM:I15.9 {source="DOID:11130"} +xref: icd11.foundation:1331849426 {source="MONDO:equivalentTo"} xref: ICD9:405 {source="DOID:11130"} xref: ICD9:405.9 {source="DOID:11130"} xref: ICD9:405.99 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -17200,6 +17337,7 @@ name: acute respiratory failure def: "Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock." [NCIT:C27043] synonym: "acute respiratory failure" EXACT [NCIT:C27043] synonym: "respiratory failure, acute" EXACT [MONDO:patterns/acute] +xref: icd11.foundation:875272781 {source="MONDO:equivalentTo"} xref: ICD9:518.81 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C27043 {source="MONDO:equivalentTo"} xref: SCTID:65710008 {source="MONDO:equivalentTo"} @@ -17360,6 +17498,7 @@ name: pulp degeneration def: "Deterioration of the normal pulp tissue." [NCIT:P378] xref: DOID:11189 {source="MONDO:equivalentTo"} xref: ICD10CM:K04.2 {source="MONDO:equivalentTo", source="DOID:11189"} +xref: icd11.foundation:868011012 {source="MONDO:equivalentTo"} xref: ICD9:522.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11189"} xref: NCIT:C34962 {source="MONDO:otherHierarchy", source="DOID:11189"} xref: SCTID:196335003 {source="DOID:11189"} @@ -17375,6 +17514,7 @@ def: "Conjunctivitis that is characterized by formation of a pseudomembrane." [N synonym: "conjunctivitis with pseudomembrane" EXACT [GARD:0008446] xref: DOID:11190 {source="MONDO:equivalentTo"} xref: ICD10CM:H10.22 {source="DOID:11190"} +xref: icd11.foundation:1606516539 {source="MONDO:equivalentTo"} xref: ICD9:372.04 {source="DOID:11190", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C35196 {source="DOID:11190", source="MONDO:equivalentTo"} xref: SCTID:193862009 {source="DOID:11190"} @@ -17392,6 +17532,7 @@ name: acute laryngopharyngitis def: "An upper respiratory tract disease which involves inflammation of both larynx and pharynx." [DOID:11195, http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=laryngopharyngitis] xref: DOID:11195 {source="MONDO:equivalentTo"} xref: ICD10CM:J06.0 {source="MONDO:equivalentTo", source="DOID:11195"} +xref: icd11.foundation:1528782604 {source="MONDO:equivalentTo"} xref: ICD9:465.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11195"} xref: SCTID:55355000 {source="MONDO:equivalentTo", source="DOID:11195"} xref: UMLS:C0155817 {source="MONDO:equivalentTo", source="DOID:11195"} @@ -17420,6 +17561,7 @@ synonym: "parathyroid, underactivity of" RELATED [GARD:0006733] xref: DOID:11199 {source="MONDO:equivalentTo"} xref: ICD10CM:E20 {source="MONDO:equivalentTo", source="DOID:11199"} xref: ICD10CM:E20.9 {source="DOID:11199"} +xref: icd11.foundation:1708733050 {source="MONDO:equivalentTo"} xref: ICD9:252.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11199"} xref: MESH:D007011 {source="MONDO:equivalentTo", source="DOID:11199"} xref: NCIT:C78350 {source="MONDO:equivalentTo", source="DOID:11199"} @@ -17864,6 +18006,7 @@ synonym: "disseminated intravascular coagulation (DIC)" EXACT [NCIT:C2992] synonym: "intravascular coagulation (DIC), disseminated" EXACT [NCIT:C2992] xref: DOID:11247 {source="MONDO:equivalentTo"} xref: ICD10CM:D65 {source="DOID:11247"} +xref: icd11.foundation:1622289887 {source="MONDO:equivalentTo"} xref: ICD9:286.6 {source="DOID:11247", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D004211 {source="DOID:11247", source="MONDO:equivalentTo"} xref: NCIT:C2992 {source="DOID:11247", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -17901,6 +18044,7 @@ subset: inferred_rare subset: rare xref: DOID:11252 {source="MONDO:equivalentTo"} xref: HP:0001935 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:1380406043 {source="MONDO:equivalentTo"} xref: MESH:C562385 {source="DOID:11252"} xref: NCIT:C35141 {source="MONDO:equivalentTo", source="DOID:11252"} xref: SCTID:154787005 {source="DOID:11252"} @@ -18025,6 +18169,7 @@ xref: ICD10CM:A71 {source="DOID:11265"} xref: ICD10CM:A71.0 {source="DOID:11265"} xref: ICD10CM:A71.1 {source="DOID:11265"} xref: ICD10CM:A71.9 {source="DOID:11265"} +xref: icd11.foundation:372424530 {source="MONDO:equivalentTo"} xref: ICD9:076 {source="DOID:11265"} xref: ICD9:076.0 {source="DOID:11265"} xref: ICD9:076.1 {source="DOID:11265"} @@ -18052,6 +18197,7 @@ name: keratomalacia def: "An eye disorder that results from vitamin A deficiency, with basis in disruption of maintenance of the specialized epithelial surfaces, leading to atrophic changes in the normal mucosal surface, with loss of goblet cells, and replacement of the normal epithelium by an inappropriate keratinized stratified squamous epithelium. In addition, the substantia propria of the cornea breaks down and liquefies, resulting in keratomalacia." [Wikipedia:Keratomalacia] xref: DOID:11267 {source="MONDO:equivalentTo"} xref: ICD10CM:H18.44 {source="DOID:11267"} +xref: icd11.foundation:497316188 {source="MONDO:equivalentTo"} xref: ICD9:371.45 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11267"} xref: MESH:C536156 {source="MONDO:equivalentTo", source="DOID:11267"} xref: SCTID:193827004 {source="DOID:11267"} @@ -18071,6 +18217,7 @@ synonym: "chronic periapical periodontitis" EXACT [MONDO:design_pattern] synonym: "periapical periodontitis, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic] xref: DOID:11269 {source="MONDO:equivalentTo"} xref: ICD10CM:K04.5 {source="DOID:11269", source="MONDO:equivalentTo"} +xref: icd11.foundation:1079140240 {source="MONDO:equivalentTo"} xref: ICD9:522.6 {source="DOID:11269", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:196343008 {source="DOID:11269"} xref: SCTID:196345001 {source="DOID:11269"} @@ -18210,6 +18357,7 @@ synonym: "pituitary gland infarction" EXACT [NCIT:C27117] synonym: "pituitary infarct" EXACT [DOID:1130] synonym: "pituitary infarction" EXACT [DOID:1130, NCIT:C27117] xref: DOID:1130 {source="MONDO:equivalentTo"} +xref: icd11.foundation:765046957 {source="MONDO:equivalentTo"} xref: ICD9:253.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C27117 {source="DOID:1130", source="MONDO:equivalentTo"} xref: SCTID:95830009 {source="DOID:1130", source="MONDO:equivalentTo"} @@ -18230,6 +18378,7 @@ synonym: "Sea bather's eruption" EXACT [DOID:11302] synonym: "swimmer's itch" RELATED [GARD:0009747] xref: DOID:11302 {source="MONDO:equivalentTo"} xref: ICD10CM:B65.3 {source="DOID:11302", source="MONDO:equivalentTo"} +xref: icd11.foundation:648519873 {source="MONDO:equivalentTo"} xref: ICD9:120.3 {source="DOID:11302"} xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C128349 {source="MONDO:equivalentTo"} @@ -18339,6 +18488,7 @@ xref: DOID:11330 {source="MONDO:equivalentTo"} xref: EFO:1001462 {source="MONDO:equivalentTo"} xref: HP:0001055 {source="MONDO:otherHierarchy"} xref: ICD10CM:A46 {source="MONDO:equivalentTo", source="DOID:11330"} +xref: icd11.foundation:1651247891 {source="MONDO:equivalentTo"} xref: ICD9:035 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11330"} xref: MESH:D004886 {source="MONDO:equivalentTo", source="DOID:11330"} xref: SCTID:154305002 {source="DOID:11330"} @@ -18373,6 +18523,7 @@ synonym: "moderate gingival recession" EXACT [DOID:1134] synonym: "severe gingival recession" EXACT [DOID:1134] xref: DOID:1134 {source="MONDO:equivalentTo"} xref: ICD10CM:K06.0 {source="DOID:1134", source="MONDO:equivalentTo"} +xref: icd11.foundation:1059404242 {source="MONDO:equivalentTo"} xref: ICD9:523.2 {source="DOID:1134"} xref: ICD9:523.20 {source="DOID:1134"} xref: ICD9:523.21 {source="DOID:1134"} @@ -18465,6 +18616,7 @@ def: "An abnormal dilation of the colon not due to obstruction." [NCIT:P378] synonym: "dilatation of colon" EXACT [DOID:11372] xref: DOID:11372 {source="MONDO:equivalentTo"} xref: ICD10CM:K59.3 {source="DOID:11372"} +xref: icd11.foundation:1742998538 {source="MONDO:equivalentTo"} xref: ICD9:564.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D008531 {source="MONDO:equivalentTo", source="DOID:11372"} xref: NCIT:C34810 {source="MONDO:equivalentTo", source="DOID:11372"} @@ -18479,6 +18631,7 @@ id: MONDO:0001274 name: anal spasm xref: DOID:11374 {source="MONDO:equivalentTo"} xref: ICD10CM:K59.4 {source="MONDO:equivalentTo", source="DOID:11374"} +xref: icd11.foundation:647005938 {source="MONDO:equivalentTo"} xref: ICD9:564.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11374"} xref: SCTID:17440005 {source="MONDO:equivalentTo", source="DOID:11374"} xref: SCTID:197136003 {source="DOID:11374"} @@ -18590,6 +18743,7 @@ xref: ICD10CM:H30.1 {source="Orphanet:280892", source="Orphanet:280892/btnt"} xref: ICD10CM:H30.2 {source="Orphanet:280892", source="Orphanet:280892/btnt"} xref: ICD10CM:H30.8 {source="Orphanet:280892", source="Orphanet:280892/btnt"} xref: ICD10CM:H30.9 {source="DOID:11406", source="Orphanet:280892", source="Orphanet:280892/btnt"} +xref: icd11.foundation:1884626736 {source="MONDO:equivalentTo"} xref: MedDRA:10036370 {source="Orphanet:280892", source="Orphanet:280892/e"} xref: MESH:D002833 {source="DOID:11406", source="MONDO:equivalentTo"} xref: NCIT:C35111 {source="DOID:11406", source="MONDO:equivalentTo"} @@ -18609,6 +18763,7 @@ name: alternating exotropia def: "A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction." [MESH:D005099] xref: DOID:1142 {source="MONDO:equivalentTo"} xref: ICD10CM:H50.15 {source="DOID:1142", source="MONDO:equivalentTo"} +xref: icd11.foundation:1611093587 {source="MONDO:equivalentTo"} xref: ICD9:378.15 {source="DOID:1142", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D005099 {source="DOID:1142"} xref: SCTID:194093000 {source="DOID:1142"} @@ -18659,6 +18814,7 @@ synonym: "endometriosis (disease) of intestine" EXACT [] synonym: "intestine endometriosis (disease)" EXACT [MONDO:patterns/location] xref: DOID:11428 {source="MONDO:equivalentTo"} xref: ICD10CM:N80.5 {source="DOID:11428", source="MONDO:equivalentTo"} +xref: icd11.foundation:706777963 {source="MONDO:equivalentTo"} xref: ICD9:617.5 {source="DOID:11428", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:198255005 {source="DOID:11428"} xref: SCTID:5562006 {source="DOID:11428", source="MONDO:equivalentTo"} @@ -18673,6 +18829,7 @@ id: MONDO:0001285 name: endometriosis of pelvic peritoneum xref: DOID:11429 {source="MONDO:equivalentTo"} xref: ICD10CM:N80.3 {source="MONDO:equivalentTo", source="DOID:11429"} +xref: icd11.foundation:1015401835 {source="MONDO:equivalentTo"} xref: ICD9:617.3 {source="MONDO:equivalentTo", source="DOID:11429", source="MONDO:i2s"} xref: SCTID:198251001 {source="MONDO:equivalentTo", source="DOID:11429"} xref: SCTID:198252008 {source="DOID:11429"} @@ -18691,6 +18848,7 @@ synonym: "divergent strabismus" EXACT [DOID:1143, NCIT:C34601] xref: DOID:1143 {source="MONDO:equivalentTo"} xref: ICD10CM:H50.1 {source="DOID:1143", source="MONDO:equivalentTo"} xref: ICD10CM:H50.10 {source="DOID:1143"} +xref: icd11.foundation:2116859618 {source="MONDO:equivalentTo"} xref: ICD9:378.1 {source="DOID:1143"} xref: ICD9:378.10 {source="DOID:1143"} xref: MESH:D005099 {source="DOID:1143", source="MONDO:equivalentTo"} @@ -18711,6 +18869,7 @@ synonym: "endometriosis in scar of skin" EXACT [] synonym: "scar endometriosis" RELATED [] xref: DOID:11430 {source="MONDO:equivalentTo"} xref: ICD10CM:N80.6 {source="MONDO:equivalentTo", source="DOID:11430"} +xref: icd11.foundation:1586348950 {source="MONDO:equivalentTo"} xref: ICD9:617.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11430"} xref: SCTID:53913001 {source="MONDO:equivalentTo", source="DOID:11430"} xref: UMLS:C0156348 {source="MONDO:equivalentTo", source="DOID:11430"} @@ -18857,6 +19016,7 @@ synonym: "Horner's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MON synonym: "oculosympathetic palsy" RELATED [GARD:0006670] xref: DOID:11486 {source="MONDO:equivalentTo"} xref: ICD10CM:G90.2 {source="DOID:11486"} +xref: icd11.foundation:178756462 {source="MONDO:equivalentTo"} xref: ICD9:337.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D006732 {source="MONDO:equivalentTo", source="DOID:11486"} xref: NCIT:C28155 {source="MONDO:equivalentTo", source="DOID:11486"} @@ -18875,6 +19035,7 @@ name: idiopathic peripheral autonomic neuropathy xref: DOID:11488 {source="MONDO:equivalentTo"} xref: ICD10CM:G90.0 {source="MONDO:equivalentTo", source="DOID:11488"} xref: ICD10CM:G90.09 {source="DOID:11488"} +xref: icd11.foundation:1422269907 {source="MONDO:equivalentTo"} xref: ICD9:337.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11488"} xref: ICD9:337.00 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:192914009 {source="DOID:11488"} @@ -18891,6 +19052,7 @@ def: "An instance of night blindness that is acquired during the lifetime of the synonym: "acquired night blindness" EXACT [MONDO:patterns/acquired] xref: DOID:11491 {source="MONDO:equivalentTo"} xref: ICD10CM:H53.62 {source="DOID:11491", source="MONDO:equivalentTo"} +xref: icd11.foundation:1609326234 {source="MONDO:equivalentTo"} xref: ICD9:368.62 {source="DOID:11491", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:53808001 {source="DOID:11491", source="MONDO:equivalentTo"} xref: UMLS:C0152202 {source="DOID:11491", source="MONDO:notFoundInDiseaseSubset"} @@ -18908,6 +19070,7 @@ synonym: "rose's tamponade" EXACT [DOID:115] xref: DOID:115 {source="MONDO:equivalentTo"} xref: EFO:1001285 {source="MONDO:equivalentTo"} xref: ICD10CM:I31.4 {source="DOID:115", source="MONDO:equivalentTo"} +xref: icd11.foundation:216782575 {source="MONDO:equivalentTo"} xref: ICD9:423.3 {source="DOID:115", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D002305 {source="DOID:115", source="MONDO:equivalentTo"} xref: NCIT:C50481 {source="DOID:115", source="MONDO:equivalentTo"} @@ -18996,6 +19159,7 @@ synonym: "psychogenic rumination" EXACT [DOID:11507] synonym: "rumination" EXACT [NCIT:C92567] synonym: "rumination syndrome" RELATED [GARD:0007594] xref: DOID:11507 {source="MONDO:equivalentTo"} +xref: icd11.foundation:879747857 {source="MONDO:equivalentTo"} xref: ICD9:307.53 {source="DOID:11507"} xref: MESH:D019959 {source="DOID:11507", source="MONDO:equivalentTo"} xref: NCIT:C92567 {source="DOID:11507", source="MONDO:equivalentTo"} @@ -19016,6 +19180,7 @@ synonym: "hypertensive heart disease" EXACT [] xref: DOID:11516 {source="MONDO:equivalentTo"} xref: ICD10CM:I11 {source="DOID:11516"} xref: ICD10CM:I11.9 {source="DOID:11516"} +xref: icd11.foundation:1210166201 {source="MONDO:equivalentTo"} xref: ICD9:402 {source="DOID:11516"} xref: ICD9:402.9 {source="DOID:11516"} xref: NCIT:C4907 {source="MONDO:equivalentTo"} @@ -19099,6 +19264,7 @@ subset: inferred_rare subset: rare xref: DOID:11543 {source="MONDO:equivalentTo"} xref: ICD10CM:H16.31 {source="DOID:11543"} +xref: icd11.foundation:485862779 {source="MONDO:equivalentTo"} xref: ICD9:370.55 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11543"} xref: NCIT:C26969 {source="MONDO:equivalentTo", source="DOID:11543"} xref: SCTID:64366002 {source="MONDO:equivalentTo", source="DOID:11543"} @@ -19114,6 +19280,7 @@ synonym: "deposits - cornea" EXACT [DOID:11547] xref: DOID:11547 {source="MONDO:equivalentTo"} xref: ICD10CM:H18.0 {source="MONDO:equivalentTo"} xref: ICD10CM:H18.00 {source="DOID:11547"} +xref: icd11.foundation:1760427912 {source="MONDO:equivalentTo"} xref: ICD9:371.10 {source="DOID:11547", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:193803001 {source="DOID:11547"} xref: SCTID:193804007 {source="DOID:11547"} @@ -19211,6 +19378,7 @@ synonym: "calcium pyrophosphate deposition disease" EXACT [DOID:1156] synonym: "pseudogout" EXACT [DOID:1156] xref: DOID:1156 {source="MONDO:equivalentTo"} xref: HP:0000934 {source="DOID:1156", source="MONDO:otherHierarchy"} +xref: icd11.foundation:2041797033 {source="MONDO:equivalentTo"} xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:712.1 {source="DOID:1156"} xref: MESH:D002805 {source="DOID:1156", source="MONDO:equivalentTo"} @@ -19326,6 +19494,7 @@ name: ring staphyloma comment: Editor note: consider placing in HPO xref: DOID:11594 {source="MONDO:equivalentTo"} xref: ICD10CM:H15.85 {source="DOID:11594"} +xref: icd11.foundation:7248227 {source="MONDO:equivalentTo"} xref: ICD9:379.15 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11594"} xref: SCTID:5299007 {source="MONDO:equivalentTo", source="DOID:11594"} xref: UMLS:C0155363 {source="MONDO:equivalentTo", source="DOID:11594"} @@ -19552,6 +19721,7 @@ name: presbyopia def: "The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation." [MESH:D011305] xref: DOID:11638 {source="MONDO:equivalentTo"} xref: ICD10CM:H52.4 {source="MONDO:equivalentTo", source="DOID:11638"} +xref: icd11.foundation:22794400 {source="MONDO:equivalentTo"} xref: ICD9:367.4 {source="MONDO:equivalentTo", source="DOID:11638", source="MONDO:i2s"} xref: MESH:D011305 {source="MONDO:equivalentTo", source="DOID:11638"} xref: SCTID:155135005 {source="DOID:11638"} @@ -19579,6 +19749,7 @@ synonym: "Hench-Rosenberg syndrome" EXACT [DOID:1166] xref: DOID:1166 {source="MONDO:equivalentTo"} xref: ICD10CM:M12.3 {source="DOID:1166", source="MONDO:equivalentTo"} xref: ICD10CM:M12.30 {source="DOID:1166"} +xref: icd11.foundation:494875651 {source="MONDO:equivalentTo"} xref: ICD9:719.3 {source="DOID:1166"} xref: ICD9:719.30 {source="DOID:1166", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:719.31 {source="DOID:1166"} @@ -19615,6 +19786,7 @@ synonym: "eyelid hypertrichosis (disease)" EXACT [MONDO:patterns/location] synonym: "hypertrichosis (disease) of eyelid" EXACT [] xref: DOID:11669 {source="MONDO:equivalentTo"} xref: ICD10CM:H02.86 {source="DOID:11669"} +xref: icd11.foundation:1623148241 {source="MONDO:equivalentTo"} xref: ICD9:374.54 {source="DOID:11669", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:79830009 {source="DOID:11669", source="MONDO:equivalentTo"} xref: UMLS:C0155213 {source="DOID:11669", source="MONDO:equivalentTo"} @@ -19703,6 +19875,7 @@ synonym: "portal vein thrombotic disease" EXACT [MONDO:patterns/location] synonym: "thrombotic disease of portal vein" EXACT [MONDO:design_pattern] xref: DOID:11695 {source="MONDO:equivalentTo"} xref: ICD10CM:I81 {source="MONDO:equivalentTo", source="DOID:11695"} +xref: icd11.foundation:866276949 {source="MONDO:equivalentTo"} xref: ICD9:452 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11695"} xref: NCIT:C78565 {source="MONDO:equivalentTo", source="DOID:11695"} xref: SCTID:155455003 {source="DOID:11695"} @@ -19864,6 +20037,7 @@ synonym: "muscular dystrophy, Landouzy-Dejerine" EXACT [DOID:11727] xref: DOID:11727 {source="MONDO:equivalentTo"} xref: GARD:9941 {source="Orphanet:269"} xref: ICD10CM:G71.0 {source="Orphanet:269", source="Orphanet:269/ntbt", source="DOID:11727", source="Orphanet:269/inclusion"} +xref: icd11.foundation:621965073 {source="MONDO:equivalentTo"} xref: icd11.foundation:621965073 {source="Orphanet:269", source="MONDO:equivalentTo"} xref: MedDRA:10064087 {source="Orphanet:269", source="Orphanet:269/e"} xref: MESH:D020391 {source="DOID:11727", source="MONDO:equivalentTo"} @@ -19890,6 +20064,7 @@ replaced_by: MONDO:0019632 id: MONDO:0001349 name: odontoclasia xref: DOID:11736 {source="MONDO:equivalentTo"} +xref: icd11.foundation:43527109 {source="MONDO:equivalentTo"} xref: ICD9:521.05 {source="DOID:11736", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:196305005 {source="DOID:11736", source="MONDO:equivalentTo"} xref: UMLS:C0341004 {source="DOID:11736", source="MONDO:equivalentTo"} @@ -20133,6 +20308,7 @@ id: MONDO:0001364 name: regular astigmatism xref: DOID:11781 {source="MONDO:equivalentTo"} xref: ICD10CM:H52.22 {source="DOID:11781"} +xref: icd11.foundation:879600754 {source="MONDO:equivalentTo"} xref: ICD9:367.21 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11781"} xref: SCTID:68905002 {source="MONDO:equivalentTo", source="DOID:11781"} xref: UMLS:C0152193 {source="MONDO:equivalentTo", source="DOID:11781"} @@ -20169,6 +20345,7 @@ subset: rare synonym: "congestive splenomegaly, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic] xref: DOID:11787 {source="MONDO:equivalentTo"} xref: ICD10CM:D73.2 {source="DOID:11787", source="MONDO:equivalentTo"} +xref: icd11.foundation:140794056 {source="MONDO:equivalentTo"} xref: ICD9:289.51 {source="DOID:11787", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:191382009 {source="DOID:11787", source="MONDO:equivalentTo"} xref: UMLS:C0398661 {source="DOID:11787", source="MONDO:equivalentTo"} @@ -20193,6 +20370,7 @@ def: "Persistent laryngitis usually caused by smoking, heavy alcohol consumption synonym: "laryngitis, chronic" EXACT [MONDO:patterns/chronic] xref: DOID:11797 {source="MONDO:equivalentTo"} xref: ICD10CM:J37.0 {source="DOID:11797", source="MONDO:equivalentTo"} +xref: icd11.foundation:2009723608 {source="MONDO:equivalentTo"} xref: ICD9:476.0 {source="DOID:11797", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C26975 {source="DOID:11797", source="MONDO:equivalentTo"} xref: SCTID:155535001 {source="DOID:11797"} @@ -20214,6 +20392,7 @@ synonym: "pericardial effusion (disease)" EXACT [https://orcid.org/0000-0002-660 synonym: "pericardial fluid" EXACT [NCIT:C3319] xref: DOID:118 {source="MONDO:equivalentTo"} xref: HP:0001698 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:2002014072 {source="MONDO:equivalentTo"} xref: MESH:D010490 {source="https://orcid.org/0000-0003-1967-3726", source="DOID:118", source="MONDO:equivalentTo"} xref: NCIT:C3319 {source="DOID:118", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"} xref: SCTID:373945007 {source="DOID:118", source="MONDO:equivalentTo"} @@ -20449,6 +20628,7 @@ subset: rare synonym: "hepato-renal syndrome" RELATED [GARD:0006610] xref: DOID:11823 {source="MONDO:equivalentTo"} xref: ICD10CM:K76.7 {source="DOID:11823", source="MONDO:equivalentTo"} +xref: icd11.foundation:1015890899 {source="MONDO:equivalentTo"} xref: ICD9:572.4 {source="DOID:11823", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D006530 {source="DOID:11823", source="MONDO:equivalentTo"} xref: NCIT:C113400 {source="DOID:11823", source="MONDO:equivalentTo"} @@ -20496,6 +20676,7 @@ xref: DOID:11830 {source="MONDO:equivalentTo"} xref: EFO:0003927 {source="DOID:11830", source="MONDO:equivalentObsolete"} xref: HP:0000545 {source="MONDO:otherHierarchy"} xref: ICD10CM:H52.1 {source="DOID:11830", source="MONDO:equivalentTo"} +xref: icd11.foundation:1666440799 {source="MONDO:equivalentTo"} xref: ICD9:367.1 {source="DOID:11830", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D009216 {source="DOID:11830", source="MONDO:equivalentTo"} xref: NCIT:C102533 {source="DOID:11830", source="MONDO:otherHierarchy"} @@ -20606,6 +20787,7 @@ is_a: MONDO:0005453 {source="https://orcid.org/0000-0001-5208-3432"} ! congenita id: MONDO:0001390 name: transient refractive change xref: DOID:11850 {source="MONDO:equivalentTo"} +xref: icd11.foundation:416871389 {source="MONDO:equivalentTo"} xref: ICD9:367.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11850"} xref: SCTID:81519008 {source="MONDO:equivalentTo", source="DOID:11850"} xref: UMLS:C0155000 {source="MONDO:equivalentTo", source="DOID:11850"} @@ -20622,6 +20804,7 @@ synonym: "indeterminate leprosy [group I]" EXACT [DOID:11851, ICD9CM:030.2] synonym: "uncharacteristic leprosy" EXACT [DOID:11851] xref: DOID:11851 {source="MONDO:equivalentTo"} xref: ICD10CM:A30.0 {source="MONDO:equivalentTo", source="DOID:11851"} +xref: icd11.foundation:2010059430 {source="MONDO:equivalentTo"} xref: ICD9:030.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11851"} xref: SCTID:14386001 {source="MONDO:equivalentTo", source="DOID:11851"} xref: UMLS:C0021192 {source="MONDO:equivalentTo", source="DOID:11851"} @@ -20632,6 +20815,7 @@ id: MONDO:0001392 name: monocular exotropia xref: DOID:11853 {source="MONDO:equivalentTo"} xref: ICD10CM:H50.11 {source="DOID:11853"} +xref: icd11.foundation:1732547896 {source="MONDO:equivalentTo"} xref: ICD9:378.11 {source="DOID:11853", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D005099 {source="DOID:11853"} xref: SCTID:194087008 {source="DOID:11853"} @@ -20670,6 +20854,7 @@ id: MONDO:0001395 name: macular keratitis xref: DOID:11871 {source="MONDO:equivalentTo"} xref: ICD10CM:H16.11 {source="DOID:11871"} +xref: icd11.foundation:1283506871 {source="MONDO:equivalentTo"} xref: ICD9:370.22 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11871"} xref: SCTID:193769006 {source="DOID:11871"} xref: SCTID:2853006 {source="MONDO:equivalentTo", source="DOID:11871"} @@ -20697,6 +20882,7 @@ subset: rare xref: DOID:1188 {source="MONDO:equivalentTo"} xref: ICD10CM:G50-G59 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:G58.9 {source="DOID:1188"} +xref: icd11.foundation:1866592137 {source="MONDO:equivalentTo"} xref: MESH:D020422 {source="DOID:1188", source="MONDO:equivalentTo"} xref: SCTID:128189008 {source="DOID:1188", source="MONDO:equivalentTo"} xref: SCTID:304595001 {source="DOID:1188"} @@ -20864,6 +21050,7 @@ name: ecthyma def: "An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed)" [MESH:D004473] xref: DOID:11907 {source="MONDO:equivalentTo"} xref: EFO:1000689 {source="MONDO:equivalentTo"} +xref: icd11.foundation:337308923 {source="MONDO:equivalentTo"} xref: ICD9:686.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D004473 {source="MONDO:equivalentTo", source="DOID:11907"} xref: SCTID:85791004 {source="MONDO:equivalentTo", source="DOID:11907"} @@ -21040,6 +21227,7 @@ synonym: "senile vaginitis" EXACT [DOID:11968] xref: DOID:11968 {source="MONDO:equivalentTo"} xref: EFO:1001271 {source="MONDO:equivalentTo"} xref: ICD10CM:N95.2 {source="MONDO:equivalentTo", source="DOID:11968"} +xref: icd11.foundation:1876048433 {source="MONDO:equivalentTo"} xref: ICD9:627.3 {source="MONDO:equivalentTo", source="DOID:11968", source="MONDO:i2s"} xref: MESH:D059268 {source="MONDO:equivalentTo"} xref: SCTID:156054004 {source="DOID:11968"} @@ -21096,6 +21284,7 @@ synonym: "spotted bones" RELATED [GARD:0004158] xref: DOID:11991 {source="MONDO:equivalentTo"} xref: HP:0010739 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q78.8 {source="DOID:11991"} +xref: icd11.foundation:801926378 {source="MONDO:equivalentTo"} xref: ICD9:756.53 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11991"} xref: MESH:D010023 {source="MONDO:equivalentTo", source="DOID:11991"} xref: NCIT:C84985 {source="MONDO:equivalentTo", source="DOID:11991"} @@ -21112,6 +21301,7 @@ def: "Loss of testicular volume." [NCIT:P378] synonym: "testicular atrophy" EXACT [NCIT:C123259] xref: DOID:11994 {source="MONDO:equivalentTo"} xref: ICD10CM:N50.0 {source="MONDO:equivalentTo", source="DOID:11994"} +xref: icd11.foundation:1735709719 {source="MONDO:equivalentTo"} xref: ICD9:608.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11994"} xref: NCIT:C123259 {source="MONDO:equivalentTo", source="DOID:11994"} xref: SCTID:155938008 {source="DOID:11994"} @@ -21412,6 +21602,7 @@ synonym: "transient arthropathy involving pelvic region and thigh" NARROW [DOID: synonym: "transient arthropathy involving shoulder region" NARROW [DOID:12084] synonym: "transient arthropathy involving upper arm" NARROW [DOID:12084] xref: DOID:12084 {source="MONDO:equivalentTo"} +xref: icd11.foundation:404860910 {source="MONDO:equivalentTo"} xref: ICD9:716.40 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:716.41 {source="DOID:12084"} xref: ICD9:716.48 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -21527,6 +21718,7 @@ synonym: "PAP" BROAD ABBREVIATION [https://orcid.org/0000-0002-6601-2165] synonym: "pulmonary alveolar proteinosis" EXACT [NCIT:C85037] xref: DOID:12120 {source="MONDO:equivalentTo"} xref: ICD10CM:J84.01 {source="DOID:12120"} +xref: icd11.foundation:1869739196 {source="MONDO:equivalentTo"} xref: ICD9:516.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12120"} xref: MESH:D011649 {source="MONDO:equivalentTo", source="DOID:12120"} xref: NCIT:C85037 {source="MONDO:equivalentTo", source="DOID:12120"} @@ -21561,6 +21753,7 @@ id: MONDO:0001439 name: episcleritis periodica fugax xref: DOID:12124 {source="MONDO:equivalentTo"} xref: ICD10CM:H15.11 {source="DOID:12124"} +xref: icd11.foundation:2091821028 {source="MONDO:equivalentTo"} xref: ICD9:379.01 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12124"} xref: SCTID:194141004 {source="DOID:12124"} xref: SCTID:31166000 {source="MONDO:equivalentTo", source="DOID:12124"} @@ -21602,6 +21795,7 @@ synonym: "dysthymia" EXACT [DOID:12139] xref: DOID:12139 {source="MONDO:equivalentTo"} xref: EFO:0008623 {source="MONDO:equivalentTo"} xref: ICD10CM:F34.1 {source="DOID:12139", source="MONDO:equivalentTo"} +xref: icd11.foundation:810797047 {source="MONDO:equivalentTo"} xref: ICD9:300.4 {source="DOID:12139", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D019263 {source="DOID:12139", source="MONDO:equivalentTo"} xref: NCIT:C34562 {source="DOID:12139", source="MONDO:equivalentTo"} @@ -21616,6 +21810,7 @@ name: tympanosclerosis def: "The formation of dense connective tissue in the tympanic membrane that does not necessarily cause or lead to loss of hearing." [MESH:D063371] xref: DOID:1214 {source="MONDO:equivalentTo"} xref: ICD10CM:H74.0 {source="MONDO:equivalentTo"} +xref: icd11.foundation:28175464 {source="MONDO:equivalentTo"} xref: ICD9:385.00 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:385.09 {source="MONDO:relatedTo", source="DOID:1214", source="MONDO:i2s"} xref: MESH:D063371 {source="MONDO:equivalentTo"} @@ -21656,6 +21851,7 @@ xref: ICD10CM:B57.2 {source="Orphanet:3386", source="Orphanet:3386/btnt"} xref: ICD10CM:B57.3 {source="Orphanet:3386", source="Orphanet:3386/btnt"} xref: ICD10CM:B57.4 {source="Orphanet:3386", source="Orphanet:3386/btnt"} xref: ICD10CM:B57.5 {source="Orphanet:3386", source="Orphanet:3386/btnt"} +xref: icd11.foundation:1365585570 {source="MONDO:equivalentTo"} xref: ICD9:086.2 {source="DOID:12140"} xref: MedDRA:10001935 {source="Orphanet:3386", source="Orphanet:3386/e"} xref: MESH:D014355 {source="MONDO:equivalentTo"} @@ -21748,6 +21944,7 @@ synonym: "lymphocytic meningitis" BROAD [DOID:12155] synonym: "lymphocytic meningoencephalitis" EXACT [DOID:12155] xref: DOID:12155 {source="MONDO:equivalentTo"} xref: ICD10CM:A87.2 {source="MONDO:equivalentTo", source="DOID:12155"} +xref: icd11.foundation:307264938 {source="MONDO:equivalentTo"} xref: ICD9:049.0 {source="DOID:12155"} xref: MESH:D008216 {source="MONDO:equivalentTo", source="DOID:12155"} xref: SCTID:186495001 {source="DOID:12155"} @@ -21781,6 +21978,7 @@ synonym: "peripheral retinal Degeneration" EXACT [NCIT:C34919] xref: DOID:12161 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.4 {source="MONDO:equivalentTo", source="DOID:12161"} xref: ICD10CM:H35.40 {source="DOID:12161"} +xref: icd11.foundation:1518234440 {source="MONDO:equivalentTo"} xref: ICD9:362.6 {source="DOID:12161"} xref: ICD9:362.60 {source="DOID:12161"} xref: NCIT:C34919 {source="MONDO:equivalentTo", source="DOID:12161"} @@ -21859,6 +22057,7 @@ id: MONDO:0001457 name: secondary vitreoretinal degeneration xref: DOID:12167 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.46 {source="DOID:12167"} +xref: icd11.foundation:345348088 {source="MONDO:equivalentTo"} xref: ICD9:362.66 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12167"} xref: SCTID:193397003 {source="DOID:12167"} xref: SCTID:60676002 {source="MONDO:equivalentTo", source="DOID:12167"} @@ -22234,6 +22433,7 @@ xref: CSP:1116-1678 {source="DOID:12273"} xref: DOID:12273 {source="MONDO:equivalentTo"} xref: HP:0012803 {source="MONDO:otherHierarchy"} xref: ICD10CM:H52.31 {source="MONDO:equivalentTo", source="DOID:12273"} +xref: icd11.foundation:386251928 {source="MONDO:equivalentTo"} xref: ICD9:367.31 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12273"} xref: MESH:D015858 {source="MONDO:equivalentTo", source="DOID:12273"} xref: SCTID:3289004 {source="MONDO:equivalentTo", source="DOID:12273"} @@ -22249,6 +22449,7 @@ synonym: "cutaneous diphtheria" EXACT [DOID:12275, NCIT:C34544] xref: DOID:12275 {source="MONDO:equivalentTo"} xref: EFO:1000683 {source="MONDO:equivalentTo"} xref: ICD10CM:A36.3 {source="MONDO:equivalentTo", source="DOID:12275"} +xref: icd11.foundation:618920860 {source="MONDO:equivalentTo"} xref: ICD9:032.85 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12275"} xref: NCIT:C34544 {source="MONDO:equivalentTo", source="DOID:12275"} xref: SCTID:18901009 {source="MONDO:equivalentTo", source="DOID:12275"} @@ -22443,6 +22644,7 @@ name: cough variant asthma def: "An asthma that is characterized by chronic nonproductive cough without shortness of breath." [DOID:12323, http://www.aaaai.org/patients/topicofthemonth/0107/, PMID:19272144] xref: DOID:12323 {source="MONDO:equivalentTo"} xref: ICD10CM:J45.991 {source="MONDO:equivalentTo", source="DOID:12323"} +xref: icd11.foundation:1466639844 {source="MONDO:equivalentTo"} xref: ICD9:493.82 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12323"} xref: SCTID:409663006 {source="MONDO:equivalentTo", source="DOID:12323"} xref: UMLS:C0694548 {source="MONDO:equivalentTo", source="DOID:12323"} @@ -22454,6 +22656,7 @@ id: MONDO:0001492 name: kyphoscoliotic heart disease xref: DOID:12325 {source="MONDO:equivalentTo"} xref: ICD10CM:I27.1 {source="DOID:12325", source="MONDO:equivalentTo"} +xref: icd11.foundation:1361660141 {source="MONDO:equivalentTo"} xref: ICD9:416.1 {source="DOID:12325", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:194886003 {source="DOID:12325"} xref: SCTID:45650007 {source="DOID:12325", source="MONDO:equivalentTo"} @@ -22675,6 +22878,7 @@ synonym: "alcoholic hepatitis" EXACT [DOID:12351] xref: CSP:1754-6978 {source="DOID:12351"} xref: DOID:12351 {source="MONDO:equivalentTo"} xref: ICD10CM:K70.1 {source="MONDO:equivalentTo"} +xref: icd11.foundation:229221394 {source="MONDO:equivalentTo"} xref: ICD9:571.1 {source="DOID:12351"} xref: MESH:D006519 {source="MONDO:equivalentTo"} xref: NCIT:C34352 {source="DOID:12351"} @@ -22693,6 +22897,7 @@ id: MONDO:0001506 name: prostatocystitis xref: DOID:12355 {source="MONDO:equivalentTo"} xref: ICD10CM:N41.3 {source="MONDO:equivalentTo", source="DOID:12355"} +xref: icd11.foundation:523988824 {source="MONDO:equivalentTo"} xref: ICD9:601.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12355"} xref: SCTID:67685000 {source="MONDO:equivalentTo", source="DOID:12355"} xref: UMLS:C0156291 {source="MONDO:equivalentTo", source="DOID:12355"} @@ -22727,6 +22932,7 @@ def: "A eustachian tube disorder with a wider eustachian tube which allows a lar xref: DOID:12358 {source="MONDO:equivalentTo"} xref: ICD10CM:H69.0 {source="DOID:12358", source="MONDO:equivalentTo"} xref: ICD10CM:H69.00 {source="DOID:12358"} +xref: icd11.foundation:1112306780 {source="MONDO:equivalentTo"} xref: ICD9:381.7 {source="DOID:12358", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:30280005 {source="DOID:12358", source="MONDO:equivalentTo"} xref: UMLS:C0155434 {source="DOID:12358", source="MONDO:equivalentTo"} @@ -22788,6 +22994,7 @@ id: MONDO:0001513 name: pulsating exophthalmos xref: DOID:12364 {source="MONDO:equivalentTo"} xref: ICD10CM:H05.26 {source="DOID:12364"} +xref: icd11.foundation:1825207679 {source="MONDO:equivalentTo"} xref: ICD9:376.35 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12364"} xref: SCTID:2284002 {source="MONDO:equivalentTo", source="DOID:12364"} xref: UMLS:C0155271 {source="MONDO:equivalentTo", source="DOID:12364"} @@ -22815,6 +23022,7 @@ name: corneal degeneration xref: DOID:1237 {source="MONDO:equivalentTo"} xref: ICD10CM:H18.4 {source="MONDO:equivalentTo", source="DOID:1237"} xref: ICD10CM:H18.40 {source="DOID:1237"} +xref: icd11.foundation:699504167 {source="MONDO:equivalentTo"} xref: ICD9:371.4 {source="DOID:1237"} xref: ICD9:371.40 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1237"} xref: ICD9:371.49 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -22834,6 +23042,7 @@ xref: DOID:12377 {source="MONDO:equivalentTo"} xref: EFO:0008525 {source="MONDO:equivalentTo"} xref: ICD10CM:G10-G14 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:G12.9 {source="DOID:12377"} +xref: icd11.foundation:71074342 {source="MONDO:equivalentTo"} xref: ICD9:335.1 {source="DOID:12377"} xref: ICD9:335.10 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12377"} xref: ICD9:335.19 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -22919,6 +23128,7 @@ synonym: "kleptomania" EXACT [NCIT:C94333] synonym: "pathological stealing" EXACT [DOID:12400] xref: DOID:12400 {source="MONDO:equivalentTo"} xref: ICD10CM:F63.2 {source="MONDO:equivalentTo", source="DOID:12400"} +xref: icd11.foundation:804604349 {source="MONDO:equivalentTo"} xref: ICD9:312.32 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12400"} xref: MESH:D007174 {source="DOID:12400"} xref: NCIT:C94333 {source="MONDO:equivalentTo", source="DOID:12400"} @@ -22936,6 +23146,7 @@ synonym: "explosive personality disorder" EXACT [DOID:12401] xref: DOID:12401 {source="MONDO:equivalentTo"} xref: ICD10CM:F60.3 {source="DOID:12401"} xref: ICD10CM:F63.81 {source="MONDO:equivalentTo", source="DOID:12401"} +xref: icd11.foundation:295017661 {source="MONDO:equivalentTo"} xref: ICD9:301.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12401"} xref: ICD9:312.34 {source="DOID:12401"} xref: MESH:D007174 {source="DOID:12401"} @@ -22959,6 +23170,7 @@ synonym: "firesetting behaviour" EXACT OMO:0003005 [] synonym: "pathological firesetting" EXACT [DOID:12402] xref: DOID:12402 {source="MONDO:equivalentTo"} xref: ICD10CM:F63.1 {source="DOID:12402", source="MONDO:equivalentTo"} +xref: icd11.foundation:1532500290 {source="MONDO:equivalentTo"} xref: ICD9:312.33 {source="DOID:12402", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D005391 {source="DOID:12402", source="MONDO:equivalentTo"} xref: NCIT:C94334 {source="DOID:12402", source="MONDO:equivalentTo"} @@ -23115,6 +23327,7 @@ synonym: "secondary hyperparathyroidism" RELATED EXCLUDE [DOID:12465] synonym: "secondary hyperparathyroidism (of renal origin)" EXACT [DOID:12465, ICD9CM:588.81] xref: DOID:12465 {source="MONDO:equivalentTo"} xref: ICD10CM:N25.81 {source="MONDO:equivalentTo", source="DOID:12465"} +xref: icd11.foundation:610229783 {source="MONDO:equivalentTo"} xref: ICD9:588.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12465"} xref: SCTID:19034001 {source="MONDO:equivalentTo", source="DOID:12465"} xref: SCTID:31298003 {source="DOID:12465"} @@ -23168,6 +23381,7 @@ synonym: "Capillaria infection" EXACT [MONDO:patterns/infectious_disease_by_agen synonym: "infections, Capillaria" RELATED [MONDO:patterns/infectious_disease_by_agent] xref: DOID:12474 {source="MONDO:equivalentTo"} xref: ICD10CM:B81.1 {source="DOID:12474"} +xref: icd11.foundation:839653996 {source="MONDO:equivalentTo"} xref: ICD9:127.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12474"} xref: SCTID:52979002 {source="MONDO:equivalentTo", source="DOID:12474"} xref: UMLS:C0006897 {source="MONDO:equivalentTo", source="DOID:12474"} @@ -23241,6 +23455,7 @@ def: "An urogenital tuberculosis involving a pathogenic inflammatory response in subset: inferred_rare subset: rare xref: DOID:1251 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1092166548 {source="MONDO:equivalentTo"} xref: ICD9:016.4 {source="DOID:1251"} xref: ICD9:016.40 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:016.41 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -23303,6 +23518,7 @@ synonym: "extrinsic allergic alveolitis from bagasse" EXACT [] synonym: "sugar cane worker pneumonitis" EXACT [DOID:12522] xref: DOID:12522 {source="MONDO:equivalentTo"} xref: ICD10CM:J67.1 {source="MONDO:equivalentTo", source="DOID:12522"} +xref: icd11.foundation:1123061945 {source="MONDO:equivalentTo"} xref: ICD9:495.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12522"} xref: MESH:D011009 {source="MONDO:relatedTo", source="DOID:12522"} xref: NCIT:C34409 {source="MONDO:equivalentTo", source="DOID:12522"} @@ -23366,6 +23582,7 @@ synonym: "sciatic nerve peripheral nerve lesion" EXACT [MONDO:patterns/location] xref: DOID:12528 {source="MONDO:equivalentTo"} xref: ICD10CM:G57.0 {source="DOID:12528", source="MONDO:equivalentTo"} xref: ICD10CM:G57.00 {source="DOID:12528"} +xref: icd11.foundation:1358497313 {source="MONDO:equivalentTo"} xref: ICD9:355.0 {source="DOID:12528", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D020426 {source="DOID:12528"} xref: SCTID:193144002 {source="DOID:12528"} @@ -23403,6 +23620,7 @@ name: hypermobility of coccyx synonym: "coccygeal hypermobility syndrome" EXACT [DOID:12537] synonym: "hypermobility of the coccyx" EXACT [DOID:12537] xref: DOID:12537 {source="MONDO:equivalentTo"} +xref: icd11.foundation:588794167 {source="MONDO:equivalentTo"} xref: ICD9:724.71 {source="DOID:12537", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:202809009 {source="DOID:12537", source="MONDO:equivalentTo"} xref: SCTID:22903002 {source="DOID:12537"} @@ -23506,6 +23724,7 @@ synonym: "dyscalculia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "mathematics disorder" EXACT [DOID:12568, ICD9CM:315.1] xref: DOID:12568 {source="MONDO:equivalentTo"} xref: HP:0002442 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:308101648 {source="MONDO:equivalentTo"} xref: ICD9:315.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D060705 {source="MONDO:equivalentTo"} xref: NCIT:C97165 {source="MONDO:equivalentTo"} @@ -23520,6 +23739,7 @@ name: phacolytic glaucoma def: "An abnormal condition characterized by an acute autoimmune reaction of the eye. It is caused by hypersensitivity of the eye to the protein of the crystalline lens and commonly follows trauma to the crystalline lens or cataract surgery. Associated symptoms include swelling and inflammation of the eye, severe pain, and blurred vision. The substance of the lens is invaded by polymorphonuclear cells and mononuclear phagocytes. Accurate diagnosis must differentiate between this condition and infectious endophthalmitis. Therapy is supportive and commonly includes the administration of corticosteroids and atropine. Refractory cases may require surgical removal of the lens." [https://medical-dictionary.thefreedictionary.com/phacolytic+glaucoma] synonym: "endophthalmitis phacoanaphylactica" RELATED EXCLUDE [https://medical-dictionary.thefreedictionary.com/phacolytic+glaucoma] xref: DOID:12570 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1566213590 {source="MONDO:equivalentTo"} xref: ICD9:365.51 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12570"} xref: SCTID:32893002 {source="MONDO:equivalentTo", source="DOID:12570"} xref: UMLS:C0152137 {source="MONDO:equivalentTo", source="DOID:12570"} @@ -23750,6 +23970,7 @@ id: MONDO:0001565 name: abnormal retinal correspondence xref: DOID:12668 {source="MONDO:equivalentTo"} xref: ICD10CM:H53.31 {source="DOID:12668", source="MONDO:equivalentTo"} +xref: icd11.foundation:119512999 {source="MONDO:equivalentTo"} xref: ICD9:368.34 {source="DOID:12668", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:79195003 {source="DOID:12668", source="MONDO:equivalentTo"} xref: UMLS:C0155010 {source="DOID:12668", source="MONDO:equivalentTo"} @@ -23781,6 +24002,7 @@ def: "Nephrocalcinosis is a disorder that occurs when too much calcium is deposi subset: rare synonym: "hypercalcemic nephropathy" RELATED [GARD:0007177] xref: DOID:12679 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1359282431 {source="MONDO:equivalentTo"} xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D009397 {source="DOID:12679", source="MONDO:equivalentTo"} xref: NCIT:C84918 {source="DOID:12679", source="MONDO:equivalentTo"} @@ -23833,6 +24055,8 @@ xref: DOID:12689 {source="MONDO:equivalentTo"} xref: GARD:223 {source="Orphanet:252175"} xref: HP:0009588 {source="MONDO:otherHierarchy"} xref: ICD10CM:D33.3 {source="Orphanet:252175", source="Orphanet:252175/e"} +xref: icd11.foundation:1477550619 {source="MONDO:equivalentTo"} +xref: icd11.foundation:480288993 {source="MONDO:equivalentTo"} xref: MedDRA:10000523 {source="Orphanet:252175", source="Orphanet:252175/e"} xref: MESH:D009464 {source="DOID:12689", source="MONDO:equivalentTo"} xref: NCIT:C3276 {source="DOID:12689", source="MONDO:equivalentTo"} @@ -23949,6 +24173,7 @@ subset: rare synonym: "gonococcal salpingitis" BROAD [DOID:12718] synonym: "gonococcal salpingitis, chronic" EXACT [MONDO:patterns/chronic] xref: DOID:12718 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1233448408 {source="MONDO:equivalentTo"} xref: ICD9:098.37 {source="DOID:12718"} xref: SCTID:53529004 {source="MONDO:equivalentTo", source="DOID:12718"} xref: UMLS:C0153208 {source="MONDO:equivalentTo", source="DOID:12718"} @@ -24010,6 +24235,7 @@ id: MONDO:0001579 name: corneal staphyloma xref: DOID:12753 {source="MONDO:equivalentTo"} xref: ICD10CM:H18.72 {source="DOID:12753"} +xref: icd11.foundation:212928655 {source="MONDO:equivalentTo"} xref: ICD9:371.73 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12753"} xref: SCTID:193849005 {source="DOID:12753"} xref: SCTID:52476003 {source="MONDO:equivalentTo", source="DOID:12753"} @@ -24068,6 +24294,7 @@ subset: rare synonym: "diabetes mellitus with polyneuropathy" EXACT [DOID:12785] synonym: "polyneuropathy in diabetes" EXACT [DOID:12785, ICD9CM:357.2] xref: DOID:12785 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1837670870 {source="MONDO:equivalentTo"} xref: ICD9:357.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12785"} xref: MESH:D003929 {source="DOID:12785"} xref: SCTID:190349003 {source="DOID:12785"} @@ -24136,6 +24363,7 @@ xref: DOID:12802 {source="MONDO:equivalentTo"} xref: GARD:10335 {source="Orphanet:579"} xref: ICD10CM:E76.0 {source="Orphanet:579", source="DOID:12802", source="Orphanet:579/e", source="Orphanet:579/specific"} xref: icd11.foundation:1539226250 {source="Orphanet:579", source="MONDO:equivalentTo"} +xref: icd11.foundation:1539226250 {source="MONDO:equivalentTo"} xref: MedDRA:10056886 {source="Orphanet:579", source="Orphanet:579/e"} xref: MESH:D008059 {source="Orphanet:579", source="DOID:12802", source="Orphanet:579/e"} xref: NCIT:C85053 {source="DOID:12802", source="MONDO:equivalentTo"} @@ -24267,6 +24495,7 @@ synonym: "Haglund's deformity" EXACT [DOID:12857] synonym: "Haglund's disease" EXACT [DOID:12857] xref: DOID:12857 {source="MONDO:equivalentTo"} xref: ICD10CM:M76.6 {source="DOID:12857"} +xref: icd11.foundation:426746156 {source="MONDO:equivalentTo"} xref: ICD9:726.71 {source="DOID:12857"} xref: SCTID:202879008 {source="DOID:12857"} xref: SCTID:203394008 {source="DOID:12857"} @@ -24325,6 +24554,7 @@ synonym: "hypochondriacal neurosis" EXACT [DOID:12883] xref: DOID:12883 {source="MONDO:equivalentTo"} xref: ICD10CM:F45.2 {source="DOID:12883"} xref: ICD10CM:F45.21 {source="DOID:12883"} +xref: icd11.foundation:675329566 {source="MONDO:equivalentTo"} xref: ICD9:300.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12883"} xref: MESH:D006998 {source="MONDO:equivalentTo", source="DOID:12883"} xref: NCIT:C9493 {source="MONDO:otherHierarchy", source="DOID:12883"} @@ -24361,6 +24591,7 @@ synonym: "Godwin tumor" EXACT [DOID:12899, NCIT:C3949] synonym: "Godwin tumour" EXACT OMO:0003005 [] xref: DOID:12899 {source="MONDO:equivalentTo"} xref: ICD10CM:K11.8 {source="DOID:12899"} +xref: icd11.foundation:1330363110 {source="MONDO:equivalentTo"} xref: ICD9:527.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3949 {source="DOID:12899", source="MONDO:equivalentTo"} xref: SCTID:45517002 {source="DOID:12899", source="MONDO:equivalentTo"} @@ -24384,6 +24615,7 @@ synonym: "salivary cyst" EXACT [DOID:12904, NCIT:C27649] synonym: "salivary gland mucocele" EXACT [DOID:12904] xref: DOID:12904 {source="MONDO:equivalentTo"} xref: ICD10CM:K11.6 {source="DOID:12904", source="MONDO:equivalentTo"} +xref: icd11.foundation:48444833 {source="MONDO:equivalentTo"} xref: ICD9:527.6 {source="DOID:12904", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D011900 {source="MONDO:equivalentTo"} xref: NCIT:C27649 {source="DOID:12904", source="MONDO:otherHierarchy"} @@ -24438,6 +24670,7 @@ synonym: "paralytic lagophthalmos (disease)" EXACT [https://orcid.org/0000-0002- xref: DOID:12958 {source="MONDO:equivalentTo"} xref: HP:0030003 {source="MONDO:otherHierarchy"} xref: ICD10CM:H02.23 {source="DOID:12958"} +xref: icd11.foundation:2122617367 {source="MONDO:equivalentTo"} xref: ICD9:374.21 {source="DOID:12958"} xref: SCTID:193938000 {source="DOID:12958"} xref: SCTID:59890007 {source="DOID:12958"} @@ -24451,6 +24684,7 @@ name: lagophthalmos xref: DOID:12959 {source="MONDO:equivalentTo"} xref: ICD10CM:H02.2 {source="DOID:12959", source="MONDO:equivalentTo"} xref: ICD10CM:H02.20 {source="DOID:12959"} +xref: icd11.foundation:1200365909 {source="MONDO:equivalentTo"} xref: ICD9:374.2 {source="DOID:12959"} xref: ICD9:374.20 {source="DOID:12959"} xref: SCTID:193936001 {source="DOID:12959"} @@ -24570,6 +24804,7 @@ synonym: "Granulopenia" EXACT [DOID:12987] xref: DOID:12987 {source="MONDO:equivalentTo"} xref: ICD10CM:D70 {source="DOID:12987", source="MONDO:equivalentTo"} xref: ICD10WHO:D70 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1913706366 {source="MONDO:equivalentTo"} xref: ICD9:288.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D000380 {source="DOID:12987", source="MONDO:equivalentTo"} xref: NCIT:C2863 {source="DOID:12987", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"} @@ -24593,6 +24828,7 @@ synonym: "dacryocystitis - acute" EXACT [DOID:12996] synonym: "dacryocystitis, acute" EXACT [MONDO:patterns/acute] xref: DOID:12996 {source="MONDO:equivalentTo"} xref: ICD10CM:H04.32 {source="DOID:12996"} +xref: icd11.foundation:743890238 {source="MONDO:equivalentTo"} xref: ICD9:375.32 {source="DOID:12996", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:193986007 {source="DOID:12996"} xref: SCTID:25470000 {source="DOID:12996", source="MONDO:equivalentTo"} @@ -24677,6 +24913,7 @@ synonym: "EKC" EXACT ABBREVIATION [DOID:13014] synonym: "shipyard eye" EXACT [DOID:13014] xref: DOID:13014 {source="MONDO:equivalentTo"} xref: ICD10CM:B30.0 {source="DOID:13014"} +xref: icd11.foundation:972253332 {source="MONDO:equivalentTo"} xref: ICD9:077.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13014"} xref: NCIT:C34590 {source="MONDO:equivalentTo", source="DOID:13014"} xref: SCTID:60548004 {source="MONDO:equivalentTo", source="DOID:13014"} @@ -24697,6 +24934,7 @@ synonym: "infection by Loboa loboi" EXACT [DOID:13026] xref: DOID:13026 {source="MONDO:equivalentTo"} xref: EFO:1001805 {source="MONDO:equivalentTo"} xref: ICD10CM:B48.0 {source="MONDO:equivalentTo", source="DOID:13026"} +xref: icd11.foundation:566562143 {source="MONDO:equivalentTo"} xref: ICD9:116.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13026"} xref: MESH:D060368 {source="MONDO:equivalentTo", source="DOID:13026"} xref: SCTID:240749000 {source="DOID:13026"} @@ -24715,6 +24953,7 @@ synonym: "transient global amnesia (disease)" EXACT [https://orcid.org/0000-0002 xref: DOID:13027 {source="MONDO:equivalentTo"} xref: HP:0010534 {source="MONDO:otherHierarchy"} xref: ICD10CM:G45.4 {source="MONDO:equivalentTo", source="DOID:13027"} +xref: icd11.foundation:1524600518 {source="MONDO:equivalentTo"} xref: ICD9:437.7 {source="DOID:13027"} xref: MESH:D020236 {source="MONDO:equivalentTo", source="DOID:13027"} xref: NCIT:C85198 {source="MONDO:equivalentTo", source="DOID:13027"} @@ -24732,6 +24971,7 @@ id: MONDO:0001618 name: balanoposthitis xref: DOID:13031 {source="MONDO:equivalentTo"} xref: ICD10CM:N47.6 {source="DOID:13031", source="MONDO:equivalentTo"} +xref: icd11.foundation:1742248014 {source="MONDO:equivalentTo"} xref: ICD9:607.1 {source="DOID:13031"} xref: SCTID:198020004 {source="DOID:13031"} xref: SCTID:198024008 {source="DOID:13031"} @@ -24756,6 +24996,7 @@ subset: rare synonym: "Relapsing fever, louse-borne" EXACT [DOID:13035, ICD9CM:087.0] xref: DOID:13035 {source="MONDO:equivalentTo"} xref: ICD10CM:A68.0 {source="MONDO:equivalentTo", source="DOID:13035"} +xref: icd11.foundation:1379934125 {source="MONDO:equivalentTo"} xref: ICD9:087.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13035"} xref: NCIT:C128426 {source="MONDO:equivalentTo"} xref: SCTID:14683004 {source="MONDO:equivalentTo", source="DOID:13035"} @@ -24778,6 +25019,7 @@ subset: rare synonym: "Relapsing fever, tick-borne" EXACT [DOID:13036, ICD9CM:087.1] xref: DOID:13036 {source="MONDO:equivalentTo"} xref: ICD10CM:A68.1 {source="MONDO:equivalentTo", source="DOID:13036"} +xref: icd11.foundation:923521593 {source="MONDO:equivalentTo"} xref: ICD9:087.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13036"} xref: NCIT:C34976 {source="MONDO:equivalentTo", source="DOID:13036"} xref: SCTID:10301003 {source="MONDO:equivalentTo", source="DOID:13036"} @@ -24798,6 +25040,7 @@ id: MONDO:0001622 name: mechanical lagophthalmos xref: DOID:13037 {source="MONDO:equivalentTo"} xref: ICD10CM:H02.22 {source="MONDO:equivalentTo", source="DOID:13037"} +xref: icd11.foundation:466575235 {source="MONDO:equivalentTo"} xref: ICD9:374.22 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13037"} xref: SCTID:193939008 {source="DOID:13037"} xref: SCTID:21783006 {source="MONDO:equivalentTo", source="DOID:13037"} @@ -24812,6 +25055,7 @@ synonym: "cicatricial lagophthalmos (disease)" EXACT [https://orcid.org/0000-000 xref: DOID:13038 {source="MONDO:equivalentTo"} xref: HP:0030004 {source="MONDO:otherHierarchy"} xref: ICD10CM:H02.21 {source="MONDO:equivalentTo", source="DOID:13038"} +xref: icd11.foundation:1868697470 {source="MONDO:equivalentTo"} xref: ICD9:374.23 {source="DOID:13038"} xref: SCTID:193940005 {source="DOID:13038"} xref: SCTID:9042000 {source="DOID:13038"} @@ -24829,6 +25073,7 @@ synonym: "sphenoidal sinus -acute" EXACT [DOID:13046] xref: DOID:13046 {source="MONDO:equivalentTo"} xref: ICD10CM:J01.3 {source="MONDO:equivalentTo", source="DOID:13046"} xref: ICD10CM:J01.30 {source="DOID:13046"} +xref: icd11.foundation:348880565 {source="MONDO:equivalentTo"} xref: ICD9:461.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13046"} xref: SCTID:155501004 {source="DOID:13046"} xref: SCTID:266378004 {source="DOID:13046"} @@ -24847,6 +25092,7 @@ synonym: "corpus luteum ovarian cyst (disease)" EXACT [MONDO:patterns/location] synonym: "ovarian cyst (disease) of corpus luteum" EXACT [] xref: DOID:13050 {source="MONDO:equivalentTo"} xref: ICD10CM:N83.1 {source="MONDO:equivalentTo"} +xref: icd11.foundation:753201214 {source="MONDO:equivalentTo"} xref: ICD9:620.1 {source="MONDO:relatedTo", source="DOID:13050", source="MONDO:i2s"} xref: SCTID:386762009 {source="MONDO:equivalentTo"} xref: UMLS:C0156361 {source="DOID:13050", source="MONDO:notFoundInDiseaseSubset"} @@ -24872,6 +25118,7 @@ synonym: "dementia" EXACT [NCIT:C4786] synonym: "dementia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:1307 {source="MONDO:equivalentTo"} xref: HP:0000726 {source="MONDO:otherHierarchy", source="https://orcid.org/0000-0001-9859-8589"} +xref: icd11.foundation:546689346 {source="MONDO:equivalentTo"} xref: ICD9:290.8 {source="DOID:1307"} xref: ICD9:294.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:294.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -24982,6 +25229,7 @@ def: "Blockage of the central retinal artery." [NCIT:P378] synonym: "central retinal arterial occlusion" EXACT [NCIT:C34456] xref: DOID:13098 {source="MONDO:equivalentTo"} xref: ICD10CM:H34.1 {source="MONDO:equivalentTo", source="DOID:13098"} +xref: icd11.foundation:613330234 {source="MONDO:equivalentTo"} xref: ICD9:362.31 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13098"} xref: MESH:D015356 {source="DOID:13098"} xref: NCIT:C34456 {source="MONDO:equivalentTo", source="DOID:13098"} @@ -25079,6 +25327,7 @@ def: "An spondylitis caused by infection with Neisseria gonorrhoeae." [MONDO:pat subset: inferred_rare subset: rare xref: DOID:13127 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1439203351 {source="MONDO:equivalentTo"} xref: ICD9:098.53 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13127"} xref: SCTID:186929006 {source="DOID:13127"} xref: SCTID:53664003 {source="MONDO:equivalentTo", source="DOID:13127"} @@ -25101,6 +25350,7 @@ synonym: "Preeclampsia with severe features" EXACT [NCIT:C112843] synonym: "severe pre-eclampsia, with delivery" EXACT [DOID:13129] synonym: "severe preeclampsia" EXACT [DOID:13129] xref: DOID:13129 {source="MONDO:equivalentTo"} +xref: icd11.foundation:479404771 {source="MONDO:equivalentTo"} xref: ICD9:642.50 {source="DOID:13129"} xref: NCIT:C112843 {source="MONDO:equivalentTo"} xref: UMLS:C0156669 {source="DOID:13129", source="MONDO:notFoundInDiseaseSubset"} @@ -25115,6 +25365,7 @@ synonym: "external stye" EXACT [DOID:13134] xref: DOID:13134 {source="MONDO:equivalentTo"} xref: ICD10CM:H00.01 {source="DOID:13134"} xref: ICD10CM:H00.03 {source="DOID:13134"} +xref: icd11.foundation:522397394 {source="MONDO:equivalentTo"} xref: ICD9:373.11 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13134"} xref: SCTID:1489008 {source="MONDO:equivalentTo", source="DOID:13134"} xref: SCTID:193912000 {source="DOID:13134"} @@ -25192,6 +25443,7 @@ is_a: MONDO:0001200 {source="DOID:13143"} ! secondary hypertension id: MONDO:0001647 name: benign renovascular hypertension xref: DOID:13145 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1396824741 {source="MONDO:equivalentTo"} xref: ICD9:405.11 {source="DOID:13145"} xref: UMLS:C0155621 {source="MONDO:notFoundInDiseaseSubset", source="DOID:13145"} is_a: MONDO:0001105 {source="DOID:13145"} ! renal hypertension @@ -25350,6 +25602,7 @@ name: dissociated nystagmus synonym: "dissociated nystagmus" EXACT [DOID:13174, ICD9CM:379.55] xref: DOID:13174 {source="MONDO:equivalentTo"} xref: ICD10CM:H55.04 {source="DOID:13174", source="MONDO:equivalentTo"} +xref: icd11.foundation:50035755 {source="MONDO:equivalentTo"} xref: ICD9:379.55 {source="DOID:13174", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D009759 {source="DOID:13174"} xref: SCTID:9520006 {source="DOID:13174", source="MONDO:equivalentTo"} @@ -25483,6 +25736,7 @@ name: proliferative diabetic retinopathy def: "Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness." [NCIT:P378] synonym: "PDR" RELATED EXCLUDE [DOID:13207] xref: DOID:13207 {source="MONDO:equivalentTo"} +xref: icd11.foundation:348602398 {source="MONDO:equivalentTo"} xref: ICD9:362.02 {source="DOID:13207", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C84457 {source="DOID:13207", source="MONDO:equivalentTo"} xref: SCTID:154679002 {source="DOID:13207"} @@ -25639,6 +25893,7 @@ synonym: "appendiceal mucocele" EXACT [NCIT:C3241] synonym: "Appendicele mucocele" EXACT [DOID:13248, NCIT:C3241] synonym: "mucocele of the appendix" EXACT [NCIT:C3241] xref: DOID:13248 {source="MONDO:equivalentTo"} +xref: icd11.foundation:159513245 {source="MONDO:equivalentTo"} xref: ICD9:543.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3241 {source="MONDO:Finding", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:13248"} xref: SCTID:53773002 {source="MONDO:equivalentTo", source="DOID:13248"} @@ -25739,6 +25994,7 @@ synonym: "EPP (erythropoietic protoporphyria porphyria)" EXACT [DOID:13270] synonym: "protoporphyria" EXACT [DOID:13270] xref: DOID:13270 {source="MONDO:equivalentTo"} xref: ICD10CM:E80.0 {source="DOID:13270"} +xref: icd11.foundation:1642941362 {source="MONDO:equivalentTo"} xref: MESH:D046351 {source="DOID:13270", source="MONDO:equivalentTo"} xref: NCIT:C84698 {source="DOID:13270"} xref: OMIMPS:177000 {source="MONDO:equivalentTo"} @@ -25808,6 +26064,7 @@ name: diphtheritic cystitis def: "A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder." [DOID:13306, http://books.google.com/books?id=qpCgt_azaBcC&pg=PA191&lpg=PA191&dq#v=onepage&q=&f=false, PMID:18889690] xref: DOID:13306 {source="MONDO:equivalentTo"} xref: ICD10CM:A36.85 {source="DOID:13306", source="MONDO:equivalentTo"} +xref: icd11.foundation:943460530 {source="MONDO:equivalentTo"} xref: ICD9:032.84 {source="DOID:13306", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:197847008 {source="DOID:13306"} xref: SCTID:48278001 {source="DOID:13306", source="MONDO:equivalentTo"} @@ -25820,6 +26077,7 @@ name: diphtheritic peritonitis def: "A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae." [DOID:13310, http://books.google.com/books?id=PRvTKedFeN8C&pg=PA505&lpg=PA505&dq#v=onepage&q=&f=false] xref: DOID:13310 {source="MONDO:equivalentTo"} xref: ICD10CM:A36.89 {source="DOID:13310"} +xref: icd11.foundation:114963194 {source="MONDO:equivalentTo"} xref: ICD9:032.83 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13310"} xref: SCTID:13596001 {source="MONDO:equivalentTo", source="DOID:13310"} xref: UMLS:C0152953 {source="MONDO:equivalentTo", source="DOID:13310"} @@ -25874,6 +26132,7 @@ id: MONDO:0001687 name: diabetic cataract synonym: "cataract - diabetic" EXACT [DOID:13328] xref: DOID:13328 {source="MONDO:equivalentTo"} +xref: icd11.foundation:340836242 {source="MONDO:equivalentTo"} xref: ICD9:366.41 {source="DOID:13328", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:154678005 {source="DOID:13328"} xref: SCTID:155129005 {source="DOID:13328"} @@ -25891,6 +26150,7 @@ subset: inferred_rare subset: rare xref: DOID:13329 {source="MONDO:equivalentTo"} xref: ICD10CM:H46.3 {source="DOID:13329", source="MONDO:equivalentTo"} +xref: icd11.foundation:1481748859 {source="MONDO:equivalentTo"} xref: ICD9:377.34 {source="DOID:13329", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D000081028 {source="MONDO:equivalentTo"} xref: SCTID:194053003 {source="DOID:13329"} @@ -25904,6 +26164,7 @@ name: hypertrophy of tongue papillae synonym: "tongue papillary hypertrophy" EXACT [DOID:13333] xref: DOID:13333 {source="MONDO:equivalentTo"} xref: ICD10CM:K14.3 {source="MONDO:equivalentTo", source="DOID:13333"} +xref: icd11.foundation:1189946017 {source="MONDO:equivalentTo"} xref: ICD9:529.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13333"} xref: SCTID:196584007 {source="DOID:13333"} xref: SCTID:6971002 {source="MONDO:equivalentTo", source="DOID:13333"} @@ -25979,6 +26240,7 @@ id: MONDO:0001694 name: diffuse interstitial keratitis xref: DOID:13353 {source="MONDO:equivalentTo"} xref: ICD10CM:H16.32 {source="DOID:13353"} +xref: icd11.foundation:1750662534 {source="MONDO:equivalentTo"} xref: ICD9:370.52 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13353"} xref: SCTID:17157001 {source="MONDO:equivalentTo", source="DOID:13353"} xref: SCTID:193785001 {source="DOID:13353"} @@ -26088,6 +26350,7 @@ name: gastrointestinal anthrax def: "An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has material basis in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite." [DOID:13386, http://emedicine.medscape.com/article/212127-overview#a0104, http://en.wikipedia.org/wiki/Cutaneous_anthrax#Cutaneous, http://www.springerlink.com/content/g3575hwr232l4411/] xref: DOID:13386 {source="MONDO:equivalentTo"} xref: ICD10CM:A22.2 {source="MONDO:equivalentTo", source="DOID:13386"} +xref: icd11.foundation:1800193089 {source="MONDO:equivalentTo"} xref: ICD9:022.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13386"} xref: MESH:C571911 {source="MONDO:equivalentTo", source="DOID:13386"} xref: SCTID:111798006 {source="MONDO:equivalentTo", source="DOID:13386"} @@ -26271,6 +26534,7 @@ name: perforation of bile duct def: "A rupture in the wall of the extrahepatic or intrahepatic bile duct due to traumatic or pathologic processes." [NCIT:P378] xref: DOID:13409 {source="MONDO:equivalentTo"} xref: ICD10CM:K83.2 {source="MONDO:equivalentTo", source="DOID:13409"} +xref: icd11.foundation:2011913010 {source="MONDO:equivalentTo"} xref: ICD9:576.3 {source="MONDO:equivalentTo", source="DOID:13409", source="MONDO:i2s"} xref: NCIT:C78528 {source="MONDO:otherHierarchy", source="DOID:13409"} xref: SCTID:37439003 {source="MONDO:equivalentTo", source="DOID:13409"} @@ -26288,6 +26552,7 @@ synonym: "Hepatoencephalopathy" RELATED [GARD:0010452] synonym: "portal-systemic encephalopathy" EXACT [DOID:13413] xref: DOID:13413 {source="MONDO:equivalentTo"} xref: ICD10CM:K72 {source="DOID:13413"} +xref: icd11.foundation:1769383160 {source="MONDO:equivalentTo"} xref: ICD9:572.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13413"} xref: MESH:D006501 {source="MONDO:equivalentTo", source="DOID:13413"} xref: NCIT:C79596 {source="MONDO:equivalentTo", source="DOID:13413"} @@ -26328,6 +26593,7 @@ synonym: "spelling dyslexia, acquired" RELATED [MESH:D004411] synonym: "Word blindness, acquired" RELATED [MESH:D004411] synonym: "Word Blindnesses, acquired" RELATED [MESH:D004411] xref: DOID:13417 {source="MONDO:equivalentTo"} +xref: icd11.foundation:262295178 {source="MONDO:equivalentTo"} xref: ICD9:315.01 {source="DOID:13417"} xref: MESH:D004410 {source="DOID:13417"} xref: MESH:D004411 {source="DOID:13417", source="MONDO:equivalentTo"} @@ -26465,6 +26731,7 @@ xref: DOID:13452 {source="MONDO:equivalentTo"} xref: HP:0100532 {source="MONDO:otherHierarchy"} xref: ICD10CM:H15.0 {source="DOID:13452"} xref: ICD10CM:H15.00 {source="DOID:13452"} +xref: icd11.foundation:2097802831 {source="MONDO:equivalentTo"} xref: ICD9:379.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13452"} xref: MESH:D015423 {source="MONDO:equivalentTo", source="DOID:13452"} xref: NCIT:C119046 {source="MONDO:equivalentTo", source="DOID:13452"} @@ -26486,6 +26753,7 @@ synonym: "Neisseria gonorrhoeae bursitis" EXACT [] synonym: "Neisseria gonorrhoeae caused bursitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] xref: DOID:13453 {source="MONDO:equivalentTo"} xref: ICD10CM:A54.49 {source="DOID:13453"} +xref: icd11.foundation:360081115 {source="MONDO:equivalentTo"} xref: ICD9:098.52 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13453"} xref: SCTID:186928003 {source="DOID:13453"} xref: SCTID:46699001 {source="MONDO:equivalentTo", source="DOID:13453"} @@ -26506,6 +26774,7 @@ synonym: "gonococcal synovitis &/or tenosynovitis" EXACT [DOID:13454] synonym: "gonococcal synovitis and tenosynovitis" EXACT [DOID:13454, ICD9CM:098.51] synonym: "gonococcal synovitis or tenosynovitis" EXACT [DOID:13454] xref: DOID:13454 {source="MONDO:equivalentTo"} +xref: icd11.foundation:491869700 {source="MONDO:equivalentTo"} xref: ICD9:098.51 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13454"} xref: SCTID:186927008 {source="DOID:13454"} xref: SCTID:266138002 {source="MONDO:equivalentTo", source="DOID:13454"} @@ -26697,6 +26966,7 @@ synonym: "inflammation of trigone of urinary bladder" EXACT [] synonym: "trigone of urinary bladder inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:13507 {source="MONDO:equivalentTo"} xref: ICD10CM:N30.3 {source="DOID:13507", source="MONDO:equivalentTo"} +xref: icd11.foundation:1938116176 {source="MONDO:equivalentTo"} xref: ICD9:595.3 {source="DOID:13507", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C123175 {source="DOID:13507", source="MONDO:equivalentTo"} xref: SCTID:155885003 {source="DOID:13507"} @@ -26771,6 +27041,7 @@ synonym: "tuberous sclerosis syndrome" EXACT [NCIT:C3424] xref: DOID:13515 {source="MONDO:equivalentTo"} xref: GARD:7830 {source="Orphanet:805"} xref: ICD10CM:Q85.1 {source="DOID:13515", source="Orphanet:805/specific", source="Orphanet:805", source="Orphanet:805/e"} +xref: icd11.foundation:1903085809 {source="MONDO:equivalentTo"} xref: icd11.foundation:1903085809 {source="MONDO:equivalentTo", source="Orphanet:805"} xref: ICD9:759.5 {source="DOID:13515", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10045138 {source="Orphanet:805", source="Orphanet:805/e"} @@ -26837,6 +27108,7 @@ subset: rare synonym: "neonatal tetanus" EXACT [DOID:13521] xref: DOID:13521 {source="MONDO:equivalentTo"} xref: ICD10CM:A33 {source="MONDO:equivalentTo", source="DOID:13521"} +xref: icd11.foundation:2085616610 {source="MONDO:equivalentTo"} xref: ICD9:771.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13521"} xref: NCIT:C116814 {source="MONDO:equivalentTo", source="DOID:13521"} xref: SCTID:206338004 {source="DOID:13521"} @@ -26859,6 +27131,7 @@ synonym: "acute suppurative labyrinthitis" RELATED [DOID:13534] synonym: "bacterial labyrinthitis" EXACT [DOID:13534] synonym: "suppurative labyrinthitis" EXACT [DOID:13534, ICD9CM:386.33] xref: DOID:13534 {source="MONDO:equivalentTo"} +xref: icd11.foundation:479586656 {source="MONDO:equivalentTo"} xref: ICD9:386.33 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13534"} xref: SCTID:24817009 {source="MONDO:equivalentTo", source="DOID:13534"} xref: UMLS:C0155506 {source="MONDO:equivalentTo", source="DOID:13534"} @@ -26897,6 +27170,7 @@ synonym: "hyperparathyroidism" EXACT [NCIT:C48259] xref: DOID:13543 {source="MONDO:equivalentTo"} xref: EFO:0008506 {source="MONDO:equivalentTo"} xref: ICD10CM:E21.3 {source="DOID:13543"} +xref: icd11.foundation:9633776 {source="MONDO:equivalentTo"} xref: ICD9:252.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13543"} xref: ICD9:252.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13543"} xref: MESH:D006961 {source="MONDO:equivalentTo", source="DOID:13543"} @@ -27126,6 +27400,7 @@ synonym: "postpartum eclampsia" EXACT [DOID:13593] xref: DOID:13593 {source="MONDO:equivalentTo"} xref: ICD10CM:O15 {source="MONDO:equivalentTo", source="DOID:13593"} xref: ICD10CM:O15.9 {source="DOID:13593"} +xref: icd11.foundation:1759760659 {source="MONDO:equivalentTo"} xref: ICD9:642.64 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D004461 {source="MONDO:equivalentTo", source="DOID:13593"} xref: NCIT:C87167 {source="MONDO:equivalentTo", source="DOID:13593"} @@ -27235,6 +27510,7 @@ subset: rare synonym: "ultraviolet keratitis" EXACT [NCIT:C118750] xref: DOID:13626 {source="MONDO:equivalentTo"} xref: ICD10CM:H16.13 {source="DOID:13626"} +xref: icd11.foundation:1566990302 {source="MONDO:equivalentTo"} xref: ICD9:370.24 {source="DOID:13626", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C118750 {source="DOID:13626", source="MONDO:equivalentTo"} xref: SCTID:1714005 {source="DOID:13626", source="MONDO:equivalentTo"} @@ -27364,6 +27640,7 @@ id: MONDO:0001766 name: eversion of lacrimal punctum xref: DOID:13651 {source="MONDO:equivalentTo"} xref: ICD10CM:H04.52 {source="DOID:13651"} +xref: icd11.foundation:129526571 {source="MONDO:equivalentTo"} xref: ICD9:375.51 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13651"} xref: SCTID:28244003 {source="MONDO:equivalentTo", source="DOID:13651"} xref: UMLS:C0155243 {source="MONDO:equivalentTo", source="DOID:13651"} @@ -27471,6 +27748,7 @@ id: MONDO:0001774 name: posterior scleritis xref: DOID:13676 {source="MONDO:equivalentTo"} xref: ICD10CM:H15.03 {source="DOID:13676"} +xref: icd11.foundation:982348440 {source="MONDO:equivalentTo"} xref: ICD9:379.07 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13676"} xref: SCTID:194144007 {source="DOID:13676"} xref: SCTID:267660007 {source="MONDO:equivalentTo", source="DOID:13676"} @@ -27483,6 +27761,7 @@ id: MONDO:0001775 name: chronic duodenal ileus xref: DOID:13687 {source="MONDO:equivalentTo"} xref: ICD10CM:K31.5 {source="DOID:13687"} +xref: icd11.foundation:379824638 {source="MONDO:equivalentTo"} xref: ICD9:537.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13687"} xref: SCTID:52232007 {source="MONDO:equivalentTo", source="DOID:13687"} xref: UMLS:C0156087 {source="MONDO:equivalentTo", source="DOID:13687"} @@ -27636,6 +27915,7 @@ name: endometrial stromal nodule def: "A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia." [NCIT:C4262] xref: DOID:1373 {source="MONDO:equivalentTo"} xref: EFO:1000241 {source="MONDO:equivalentTo"} +xref: icd11.foundation:2114073773 {source="MONDO:equivalentTo"} xref: ICDO:8930/0 {source="NCIT:C4262"} xref: NCIT:C4262 {source="DOID:1373", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:189810002 {source="DOID:1373"} @@ -27652,6 +27932,7 @@ name: malignant renovascular hypertension synonym: "malignant renal artery stenosis" EXACT [] synonym: "malignant renal hypertension" EXACT [] xref: DOID:13730 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1402842599 {source="MONDO:equivalentTo"} is_a: MONDO:0000959 {source="DOID:13730"} ! malignant hypertensive renal disease is_a: MONDO:0001785 {source="DOID:13730", source="MONDO:Redundant"} ! malignant secondary hypertension intersection_of: MONDO:0001105 ! renal hypertension @@ -27762,6 +28043,7 @@ id: MONDO:0001792 name: epiphora due to insufficient drainage xref: DOID:13756 {source="MONDO:equivalentTo"} xref: ICD10CM:H04.22 {source="DOID:13756"} +xref: icd11.foundation:2073269541 {source="MONDO:equivalentTo"} xref: ICD9:375.22 {source="DOID:13756", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:85042000 {source="DOID:13756", source="MONDO:equivalentTo"} xref: UMLS:C0155234 {source="DOID:13756", source="MONDO:equivalentTo"} @@ -27863,6 +28145,7 @@ synonym: "Chancroids" RELATED [MESH:D002602] synonym: "Ulcus molle, skin" EXACT [DOID:13778] xref: DOID:13778 {source="MONDO:equivalentTo"} xref: ICD10CM:A57 {source="DOID:13778", source="MONDO:equivalentTo"} +xref: icd11.foundation:1357024926 {source="MONDO:equivalentTo"} xref: ICD9:099.0 {source="DOID:13778", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D002602 {source="DOID:13778", source="MONDO:equivalentTo"} xref: SCTID:154391003 {source="DOID:13778"} @@ -27908,6 +28191,7 @@ id: MONDO:0001800 name: equatorial staphyloma xref: DOID:13788 {source="MONDO:equivalentTo"} xref: ICD10CM:H15.81 {source="DOID:13788"} +xref: icd11.foundation:120412682 {source="MONDO:equivalentTo"} xref: ICD9:379.13 {source="DOID:13788"} xref: SCTID:82146006 {source="DOID:13788", source="MONDO:equivalentTo"} xref: UMLS:C0155361 {source="DOID:13788", source="MONDO:equivalentTo"} @@ -27918,6 +28202,7 @@ id: MONDO:0001801 name: staphyloma posticum xref: DOID:13789 {source="MONDO:equivalentTo"} xref: ICD10CM:H15.83 {source="DOID:13789"} +xref: icd11.foundation:382453603 {source="MONDO:equivalentTo"} xref: ICD9:379.12 {source="DOID:13789", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:87819007 {source="DOID:13789", source="MONDO:equivalentTo"} xref: UMLS:C0155360 {source="DOID:13789", source="MONDO:equivalentTo"} @@ -27957,6 +28242,7 @@ id: MONDO:0001804 name: anterior scleritis xref: DOID:13794 {source="MONDO:equivalentTo"} xref: ICD10CM:H15.01 {source="DOID:13794"} +xref: icd11.foundation:728494077 {source="MONDO:equivalentTo"} xref: ICD9:379.03 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13794"} xref: SCTID:63454000 {source="MONDO:equivalentTo", source="DOID:13794"} xref: UMLS:C0155353 {source="MONDO:equivalentTo", source="DOID:13794"} @@ -28080,6 +28366,7 @@ name: tetanic cataract def: "A cataract resulting from hypocalcemia." [NCIT:P378] synonym: "hypocalcaemic cataract" EXACT [DOID:13822] xref: DOID:13822 {source="MONDO:equivalentTo"} +xref: icd11.foundation:2073255301 {source="MONDO:equivalentTo"} xref: ICD9:366.42 {source="DOID:13822", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C35068 {source="DOID:13822", source="MONDO:equivalentTo"} xref: SCTID:193607003 {source="DOID:13822"} @@ -28196,6 +28483,7 @@ name: focal labyrinthitis def: "A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma." [DOID:13867, http://books.google.com/books?id=K6IRAAAAYAAJ&pg=PA934&lpg#v=onepage&q=&f=false] synonym: "circumscribed labyrinthitis" EXACT [DOID:13867, ICD9CM:386.32] xref: DOID:13867 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1257091364 {source="MONDO:equivalentTo"} xref: ICD9:386.32 {source="DOID:13867", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:194364005 {source="DOID:13867"} xref: SCTID:61794006 {source="DOID:13867", source="MONDO:equivalentTo"} @@ -28253,6 +28541,7 @@ synonym: "sinus node infection" EXACT [DOID:13884] synonym: "SSS" EXACT ABBREVIATION [NCIT:C62244] xref: DOID:13884 {source="MONDO:equivalentTo"} xref: ICD10CM:I49.5 {source="MONDO:equivalentTo", source="DOID:13884"} +xref: icd11.foundation:1682594333 {source="MONDO:equivalentTo"} xref: MESH:D012804 {source="MONDO:equivalentTo", source="DOID:13884"} xref: NCIT:C62244 {source="MONDO:equivalentTo", source="DOID:13884"} xref: Orphanet:166282 {source="DOID:13884"} @@ -28276,6 +28565,7 @@ xref: DOID:1389 {source="MONDO:equivalentTo"} xref: ICD10CM:A69.22 {source="DOID:1389"} xref: ICD10CM:G60-G65 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:G62.9 {source="DOID:1389"} +xref: icd11.foundation:58868923 {source="MONDO:equivalentTo"} xref: ICD9:356.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:357.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D011115 {source="MONDO:equivalentTo", source="DOID:1389"} @@ -28324,6 +28614,7 @@ def: "A superficial mycosis due to T beigelii that is characterized by a soft, f synonym: "Tinea blanca" EXACT [DOID:13902, ICD9CM:111.2] xref: DOID:13902 {source="MONDO:equivalentTo"} xref: ICD10CM:B36.2 {source="DOID:13902", source="MONDO:equivalentTo"} +xref: icd11.foundation:303653536 {source="MONDO:equivalentTo"} xref: ICD9:111.2 {source="DOID:13902", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D010854 {source="DOID:13902"} xref: SCTID:266218008 {source="DOID:13902"} @@ -28404,6 +28695,7 @@ id: MONDO:0001831 name: irregular astigmatism xref: DOID:13919 {source="MONDO:equivalentTo"} xref: ICD10CM:H52.21 {source="DOID:13919"} +xref: icd11.foundation:1086387343 {source="MONDO:equivalentTo"} xref: ICD9:367.22 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13919"} xref: SCTID:47099006 {source="MONDO:equivalentTo", source="DOID:13919"} xref: UMLS:C0152194 {source="MONDO:equivalentTo", source="DOID:13919"} @@ -28524,6 +28816,7 @@ subset: rare synonym: "gonococcal salpingitis, acute" EXACT [MONDO:patterns/acute] synonym: "gonococcal salpingitis, specified as acute" EXACT [DOID:13942, ICD9CM:098.17] xref: DOID:13942 {source="MONDO:equivalentTo"} +xref: icd11.foundation:48273613 {source="MONDO:equivalentTo"} xref: ICD9:098.17 {source="DOID:13942"} xref: SCTID:45377007 {source="DOID:13942", source="MONDO:equivalentTo"} xref: UMLS:C0275654 {source="DOID:13942", source="MONDO:equivalentTo"} @@ -28544,6 +28837,7 @@ synonym: "gonococcal prostatitis" BROAD [DOID:13943] synonym: "gonococcal prostatitis (acute)" EXACT [DOID:13943, ICD9CM:098.12] synonym: "gonococcal prostatitis, acute" EXACT [MONDO:patterns/acute] xref: DOID:13943 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1552826290 {source="MONDO:equivalentTo"} xref: ICD9:098.12 {source="DOID:13943", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:111806005 {source="DOID:13943", source="MONDO:equivalentTo"} xref: UMLS:C0153192 {source="DOID:13943", source="MONDO:equivalentTo"} @@ -28753,6 +29047,7 @@ id: MONDO:0001853 name: contact blepharoconjunctivitis xref: DOID:13999 {source="MONDO:equivalentTo"} xref: ICD10CM:H10.53 {source="DOID:13999"} +xref: icd11.foundation:1096051270 {source="MONDO:equivalentTo"} xref: ICD9:372.22 {source="DOID:13999", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:10813004 {source="DOID:13999", source="MONDO:equivalentTo"} xref: SCTID:193872007 {source="DOID:13999"} @@ -28971,6 +29266,7 @@ synonym: "infection by dematiacious fungi" EXACT [DOID:14049] synonym: "infection by dematiacious fungi [Phaehyphomycosis]" EXACT [DOID:14049, ICD9CM:117.8] synonym: "phaehyphomycosis" EXACT [DOID:14049] xref: DOID:14049 {source="MONDO:equivalentTo"} +xref: icd11.foundation:547567937 {source="MONDO:equivalentTo"} xref: ICD9:117.8 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D060446 {source="MONDO:equivalentTo"} xref: SCTID:47158003 {source="MONDO:equivalentTo"} @@ -29090,6 +29386,7 @@ synonym: "geniculate ganglionitis" EXACT [MONDO:patterns/inflammatory_disease_by synonym: "inflammation of geniculate ganglion" EXACT [] xref: DOID:14075 {source="MONDO:equivalentTo"} xref: ICD10CM:G51.1 {source="MONDO:equivalentTo", source="DOID:14075"} +xref: icd11.foundation:305361524 {source="MONDO:equivalentTo"} xref: ICD9:351.1 {source="MONDO:equivalentTo", source="DOID:14075", source="MONDO:i2s"} xref: MESH:D005155 {source="DOID:14075"} xref: SCTID:155071009 {source="DOID:14075"} @@ -29238,6 +29535,7 @@ name: median rhomboid glossitis synonym: "persistent tuberculum impar" EXACT [DOID:14111] xref: DOID:14111 {source="MONDO:equivalentTo"} xref: ICD10CM:K14.2 {source="MONDO:equivalentTo", source="DOID:14111"} +xref: icd11.foundation:598142773 {source="MONDO:equivalentTo"} xref: ICD9:529.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14111"} xref: ICD9:750.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:7522008 {source="MONDO:equivalentTo", source="DOID:14111"} @@ -29266,6 +29564,7 @@ synonym: "TSS, toxic shock syndrome" EXACT [NCIT:C35498] xref: DOID:14115 {source="MONDO:equivalentTo"} xref: GARD:9560 {source="Orphanet:36234"} xref: ICD10CM:A48.3 {source="Orphanet:36234/e", source="MONDO:equivalentTo", source="DOID:14115", source="Orphanet:36234"} +xref: icd11.foundation:114886962 {source="MONDO:equivalentTo"} xref: icd11.foundation:114886962 {source="MONDO:equivalentTo", source="Orphanet:36234"} xref: ICD9:040.82 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14115"} xref: MESH:D012772 {source="MONDO:equivalentTo", source="DOID:14115"} @@ -29290,6 +29589,7 @@ synonym: "bacteriuria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: CSP:3045-9976 {source="DOID:1412"} xref: DOID:1412 {source="MONDO:equivalentTo"} xref: HP:0012461 {source="DOID:1412", source="MONDO:otherHierarchy"} +xref: icd11.foundation:626563645 {source="MONDO:equivalentTo"} xref: MedDRA:10004056 {source="DOID:1412"} xref: MESH:D001437 {source="DOID:1412", source="MONDO:equivalentTo"} xref: SCTID:61373006 {source="DOID:1412"} @@ -29409,6 +29709,7 @@ synonym: "ovarian insufficiency" EXACT [NCIT:C113351] xref: DOID:1414 {source="MONDO:equivalentTo"} xref: EFO:0009003 {source="MONDO:equivalentTo"} xref: ICD10CM:E28 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1801368748 {source="MONDO:equivalentTo"} xref: ICD9:256.3 {source="DOID:1414"} xref: ICD9:256.39 {source="DOID:1414"} xref: ICD9:256.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -29639,6 +29940,7 @@ subset: rare xref: DOID:14181 {source="MONDO:equivalentTo"} xref: ICD10CM:M65.2 {source="MONDO:equivalentTo"} xref: ICD10CM:M75.3 {source="DOID:14181"} +xref: icd11.foundation:856383808 {source="MONDO:equivalentTo"} xref: ICD9:726.11 {source="DOID:14181"} xref: SCTID:239957000 {source="DOID:14181"} xref: SCTID:27741009 {source="DOID:14181"} @@ -29667,6 +29969,7 @@ name: bicipital tenosynovitis subset: inferred_rare subset: rare xref: DOID:14192 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1292787411 {source="MONDO:equivalentTo"} xref: ICD9:726.12 {source="DOID:14192", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:202840002 {source="DOID:14192"} xref: SCTID:41137001 {source="DOID:14192", source="MONDO:equivalentTo"} @@ -29679,6 +29982,7 @@ name: posterior dislocation of lens comment: May be obsoleted as it represents a finding; TODO add HPO class xref: DOID:14199 {source="MONDO:equivalentTo"} xref: ICD10CM:H27.13 {source="DOID:14199"} +xref: icd11.foundation:516761725 {source="MONDO:equivalentTo"} xref: ICD9:379.34 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14199"} xref: SCTID:14169000 {source="MONDO:equivalentTo", source="DOID:14199"} xref: SCTID:194161005 {source="DOID:14199"} @@ -29696,6 +30000,7 @@ subset: rare synonym: "adult onset dermatomyositis" EXACT [DOID:14202] synonym: "dermatomyositis of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:14202 {source="MONDO:equivalentTo"} +xref: icd11.foundation:544509908 {source="MONDO:equivalentTo"} xref: NCIT:C27313 {source="MONDO:equivalentTo"} xref: SCTID:402425006 {source="MONDO:equivalentTo"} xref: UMLS:C0221056 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C27313"} @@ -29717,6 +30022,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare xref: DOID:14219 {source="MONDO:equivalentTo"} xref: ICD10CM:N25.89 {source="DOID:14219"} +xref: icd11.foundation:1272869150 {source="MONDO:equivalentTo"} xref: ICD9:588.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D000141 {source="DOID:14219", source="MONDO:equivalentTo"} xref: NCIT:C28129 {source="DOID:14219", source="MONDO:otherHierarchy"} @@ -29769,6 +30075,7 @@ synonym: "frontal sinusitis, acute" EXACT [MONDO:patterns/acute] xref: DOID:14225 {source="MONDO:equivalentTo"} xref: ICD10CM:J01.1 {source="MONDO:equivalentTo", source="DOID:14225"} xref: ICD10CM:J01.10 {source="DOID:14225"} +xref: icd11.foundation:86893536 {source="MONDO:equivalentTo"} xref: ICD9:461.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14225"} xref: SCTID:155500003 {source="DOID:14225"} xref: SCTID:91038008 {source="MONDO:equivalentTo", source="DOID:14225"} @@ -29786,6 +30093,7 @@ xref: DOID:14228 {source="MONDO:equivalentTo"} xref: HP:0000798 {source="MONDO:otherHierarchy"} xref: ICD10CM:N46.1 {source="DOID:14228"} xref: ICD10CM:N46.11 {source="DOID:14228"} +xref: icd11.foundation:1497721709 {source="MONDO:equivalentTo"} xref: ICD9:606.1 {source="DOID:14228"} xref: MESH:D009845 {source="DOID:14228", source="MONDO:equivalentTo"} xref: NCIT:C34860 {source="DOID:14228", source="MONDO:otherHierarchy"} @@ -29798,6 +30106,7 @@ name: scleromalacia perforans def: "A rare form of necrotizing anterior scleritis without pain in which the sclera is notably white, avascular and thin. Both choroidal exposure and staphyloma formation may occur." [http://eyewiki.aao.org/Scleritis] xref: DOID:14230 {source="MONDO:equivalentTo"} xref: ICD10CM:H15.05 {source="DOID:14230"} +xref: icd11.foundation:740830358 {source="MONDO:equivalentTo"} xref: ICD9:379.04 {source="DOID:14230", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:26664005 {source="DOID:14230", source="MONDO:equivalentTo"} xref: UMLS:C0155354 {source="DOID:14230", source="MONDO:equivalentTo"} @@ -29812,6 +30121,7 @@ synonym: "orbit cyst" EXACT [] xref: DOID:14233 {source="MONDO:equivalentTo"} xref: HP:0001144 {source="MONDO:otherHierarchy"} xref: ICD10CM:H05.81 {source="DOID:14233"} +xref: icd11.foundation:1244231313 {source="MONDO:equivalentTo"} xref: ICD9:376.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14233"} xref: SCTID:194033002 {source="DOID:14233"} xref: SCTID:31021007 {source="MONDO:equivalentTo", source="DOID:14233"} @@ -29862,6 +30172,7 @@ id: MONDO:0001918 name: epiphora due to excess lacrimation xref: DOID:14244 {source="MONDO:equivalentTo"} xref: ICD10CM:H04.21 {source="DOID:14244"} +xref: icd11.foundation:255772124 {source="MONDO:equivalentTo"} xref: ICD9:375.21 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14244"} xref: SCTID:193984005 {source="DOID:14244"} xref: SCTID:31788005 {source="MONDO:equivalentTo", source="DOID:14244"} @@ -29889,6 +30200,7 @@ synonym: "CSOM" EXACT ABBREVIATION [NCIT:C128386] synonym: "suppurative otitis media, chronic" EXACT [MONDO:patterns/chronic] xref: DOID:14247 {source="MONDO:equivalentTo"} xref: ICD10CM:H66.3 {source="DOID:14247"} +xref: icd11.foundation:669695172 {source="MONDO:equivalentTo"} xref: ICD9:382.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14247"} xref: NCIT:C128386 {source="MONDO:equivalentTo"} xref: SCTID:155228005 {source="DOID:14247"} @@ -29923,6 +30235,7 @@ name: pyoureter def: "An abscess that is located in the ureter." [NCIT:P378] synonym: "ureter abscess" EXACT [DOID:1425, NCIT:C35666] xref: DOID:1425 {source="MONDO:equivalentTo"} +xref: icd11.foundation:692694709 {source="MONDO:equivalentTo"} xref: ICD9:593.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C35666 {source="MONDO:equivalentTo", source="DOID:1425"} xref: SCTID:266627003 {source="DOID:1425"} @@ -29939,6 +30252,7 @@ subset: rare synonym: "vitreoretinal dystrophies" EXACT [DOID:14251, ICD9CM:362.73] xref: DOID:14251 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.51 {source="MONDO:equivalentTo", source="DOID:14251"} +xref: icd11.foundation:817777781 {source="MONDO:equivalentTo"} xref: ICD9:362.73 {source="MONDO:equivalentTo", source="DOID:14251", source="MONDO:i2s"} xref: SCTID:79556007 {source="MONDO:equivalentTo", source="DOID:14251"} xref: UMLS:C0154863 {source="MONDO:equivalentTo", source="DOID:14251"} @@ -29951,6 +30265,7 @@ subset: inferred_rare subset: rare xref: DOID:14252 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.54 {source="DOID:14252", source="MONDO:equivalentTo"} +xref: icd11.foundation:1387676300 {source="MONDO:equivalentTo"} xref: ICD9:362.76 {source="MONDO:relatedTo", source="DOID:14252"} xref: UMLS:C0154865 {source="DOID:14252", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0019118 {source="DOID:14252"} ! inherited retinal dystrophy @@ -30005,6 +30320,7 @@ synonym: "pulmonic insufficiency NOS" RELATED EXCLUDE [DOID:14265] synonym: "pulmonic valve regurgitation" EXACT [DOID:14265] synonym: "regurgitation, pulmonary" EXACT [NCIT:C50848] xref: DOID:14265 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1093888988 {source="MONDO:equivalentTo"} xref: MESH:D011665 {source="MONDO:equivalentTo", source="DOID:14265"} xref: NCIT:C50848 {source="MONDO:equivalentTo", source="DOID:14265"} xref: NCIT:C51447 {source="DOID:14265"} @@ -30021,6 +30337,7 @@ def: "Cholangitis that is characterized by pyogenic organisms." [NCIT:P378] synonym: "suppurative cholangitis" EXACT [DOID:14269, NCIT:C35336] xref: DOID:14269 {source="MONDO:equivalentTo"} xref: ICD10CM:K83.0 {source="DOID:14269"} +xref: icd11.foundation:32799822 {source="MONDO:equivalentTo"} xref: NCIT:C35336 {source="MONDO:equivalentTo", source="DOID:14269"} xref: SCTID:197437002 {source="DOID:14269"} xref: SCTID:69850007 {source="MONDO:equivalentTo", source="DOID:14269"} @@ -30147,6 +30464,7 @@ id: MONDO:0001936 name: brawny scleritis xref: DOID:14287 {source="MONDO:equivalentTo"} xref: ICD10CM:H15.02 {source="DOID:14287"} +xref: icd11.foundation:1606860546 {source="MONDO:equivalentTo"} xref: ICD9:379.06 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14287"} xref: SCTID:91612009 {source="MONDO:equivalentTo", source="DOID:14287"} xref: UMLS:C0155356 {source="MONDO:equivalentTo", source="DOID:14287"} @@ -30205,6 +30523,7 @@ id: MONDO:0001940 name: pleuropneumonia def: "Inflammation of the lung parenchyma that is associated with pleurisy, inflammation of the pleura." [MESH:D011001] xref: DOID:14319 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1272236893 {source="MONDO:equivalentTo"} xref: MESH:D011001 {source="DOID:14319", source="MONDO:equivalentTo"} xref: SCTID:60485005 {source="DOID:14319", source="MONDO:equivalentTo"} xref: UMLS:C0032241 {source="DOID:14319", source="MONDO:equivalentTo"} @@ -30365,6 +30684,7 @@ synonym: "acute thyroiditis (disease)" EXACT [] synonym: "thyroiditis (disease), acute" EXACT [MONDO:patterns/acute] xref: DOID:14353 {source="MONDO:equivalentTo"} xref: ICD10CM:E06.0 {source="MONDO:equivalentTo", source="DOID:14353"} +xref: icd11.foundation:737694495 {source="MONDO:equivalentTo"} xref: ICD9:245.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14353"} xref: SCTID:154665005 {source="DOID:14353"} xref: SCTID:190293001 {source="MONDO:equivalentTo", source="DOID:14353"} @@ -30380,6 +30700,7 @@ id: MONDO:0001950 name: corneal ectasia xref: DOID:1436 {source="MONDO:equivalentTo"} xref: ICD10CM:H18.71 {source="DOID:1436"} +xref: icd11.foundation:1703179358 {source="MONDO:equivalentTo"} xref: ICD9:371.71 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1436"} xref: SCTID:14748007 {source="MONDO:equivalentTo", source="DOID:1436"} xref: UMLS:C0155135 {source="MONDO:equivalentTo", source="DOID:1436"} @@ -30433,6 +30754,7 @@ synonym: "pyuria" EXACT [MONDO:ambiguous] synonym: "pyuria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:1439 {source="MONDO:equivalentTo"} xref: HP:0012085 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:2000630356 {source="MONDO:equivalentTo"} xref: MESH:D011776 {source="MONDO:equivalentTo", source="DOID:1439"} xref: NCIT:C119028 {source="MONDO:otherHierarchy", source="DOID:1439"} xref: SCTID:144593007 {source="DOID:1439"} @@ -30451,6 +30773,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare xref: DOID:14392 {source="MONDO:equivalentTo"} xref: ICD10CM:I82.1 {source="DOID:14392", source="MONDO:equivalentTo"} +xref: icd11.foundation:674623750 {source="MONDO:equivalentTo"} xref: ICD9:453.1 {source="DOID:14392", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:155456002 {source="DOID:14392"} xref: SCTID:155491005 {source="DOID:14392"} @@ -30576,6 +30899,7 @@ def: "A suppurative otitis media which is an inflammatory disease of the middle xref: DOID:14435 {source="MONDO:equivalentTo"} xref: ICD10CM:H66.1 {source="MONDO:equivalentTo", source="DOID:14435"} xref: ICD10CM:H66.10 {source="DOID:14435"} +xref: icd11.foundation:1770220148 {source="MONDO:equivalentTo"} xref: ICD9:382.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14435"} xref: SCTID:87665008 {source="MONDO:equivalentTo", source="DOID:14435"} xref: UMLS:C0155440 {source="MONDO:equivalentTo", source="DOID:14435"} @@ -30588,6 +30912,7 @@ name: sclerosing keratitis synonym: "sclerokeratitis" EXACT [DOID:14444] xref: DOID:14444 {source="MONDO:equivalentTo"} xref: ICD10CM:H16.33 {source="DOID:14444"} +xref: icd11.foundation:219361296 {source="MONDO:equivalentTo"} xref: ICD9:370.54 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14444"} xref: SCTID:194143001 {source="DOID:14444"} xref: SCTID:27886001 {source="MONDO:equivalentTo", source="DOID:14444"} @@ -30772,6 +31097,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare xref: DOID:14483 {source="MONDO:equivalentTo"} xref: EFO:1001290 {source="MONDO:equivalentTo"} +xref: icd11.foundation:113562578 {source="MONDO:equivalentTo"} xref: ICD9:646.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D020150 {source="DOID:14483", source="MONDO:equivalentTo"} xref: SCTID:25113000 {source="DOID:14483", source="MONDO:equivalentTo"} @@ -30822,6 +31148,7 @@ synonym: "jejunal syndrome" EXACT [DOID:14495] xref: DOID:14495 {source="MONDO:equivalentTo"} xref: EFO:1001307 {source="MONDO:equivalentTo"} xref: ICD10CM:K91.1 {source="DOID:14495"} +xref: icd11.foundation:237191235 {source="MONDO:equivalentTo"} xref: MESH:D004377 {source="MONDO:equivalentTo", source="DOID:14495"} xref: NCIT:C2994 {source="MONDO:equivalentTo", source="DOID:14495"} xref: SCTID:155785007 {source="DOID:14495"} @@ -30865,6 +31192,7 @@ xref: EFO:1001380 {source="MONDO:equivalentTo"} xref: ICD10CM:E75.24 {source="DOID:14504"} xref: ICD10CM:E75.242 {source="DOID:14504"} xref: ICD10CM:E75.249 {source="DOID:14504"} +xref: icd11.foundation:398872780 {source="MONDO:equivalentTo"} xref: MESH:D009542 {source="DOID:14504", source="MONDO:equivalentTo"} xref: MESH:D052556 {source="DOID:14504"} xref: NCIT:C61269 {source="DOID:14504", source="MONDO:equivalentTo"} @@ -30927,6 +31255,7 @@ synonym: "Argyll Robertson pupil, atypical" EXACT [DOID:14523, ICD9CM:379.45] synonym: "atypical Argyll-Robertson pupil" EXACT [DOID:14523] xref: DOID:14523 {source="MONDO:equivalentTo"} xref: ICD10CM:H57.01 {source="MONDO:equivalentTo", source="DOID:14523"} +xref: icd11.foundation:1086796982 {source="MONDO:equivalentTo"} xref: ICD9:379.45 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14523"} xref: SCTID:21011008 {source="MONDO:equivalentTo", source="DOID:14523"} xref: UMLS:C0234668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -31167,6 +31496,7 @@ subset: rare xref: DOID:14555 {source="MONDO:equivalentTo"} xref: EFO:1001330 {source="MONDO:equivalentTo"} xref: ICD10CM:H47.14 {source="DOID:14555"} +xref: icd11.foundation:288363660 {source="MONDO:equivalentTo"} xref: ICD9:377.04 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14555"} xref: MESH:D009901 {source="DOID:14555"} xref: SCTID:87764000 {source="MONDO:equivalentTo", source="DOID:14555"} @@ -31312,6 +31642,7 @@ xref: DOID:1468 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:3930 {source="MONDO:equivalentTo"} xref: ICD10CM:H83.0 {source="MONDO:equivalentTo", source="DOID:1468"} xref: ICD10CM:H83.09 {source="DOID:1468"} +xref: icd11.foundation:901550793 {source="MONDO:equivalentTo"} xref: ICD9:386.3 {source="DOID:1468"} xref: ICD9:386.30 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1468"} xref: MESH:D007762 {source="MONDO:equivalentTo", source="DOID:1468"} @@ -31395,6 +31726,7 @@ synonym: "Keller syndrome" EXACT [DOID:14711] synonym: "mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum" RELATED DEPRECATED [GARD:0002317] synonym: "Opitz-Kaveggia syndrome" NARROW [DOID:14711, GARD:0002317] xref: DOID:14711 {source="MONDO:equivalentTo"} +xref: icd11.foundation:156523187 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537923 {source="DOID:14711"} xref: OMIMPS:305450 {source="MONDO:equivalentTo"} @@ -31522,6 +31854,7 @@ synonym: "Thomas' syndrome" RELATED AMBIGUOUS [DOID:14784] synonym: "WADIA-swami syndrome" EXACT [DOID:14784] xref: DOID:14784 {source="MONDO:equivalentTo"} xref: ICD10CM:G23.8 {source="DOID:14784"} +xref: icd11.foundation:1467584080 {source="MONDO:equivalentTo"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D009849 {source="MONDO:equivalentTo", source="DOID:14784"} xref: NCIT:C84947 {source="MONDO:equivalentTo", source="DOID:14784"} @@ -31678,6 +32011,7 @@ def: "A disorder characterized by an enduring pattern of avoidance of social sit synonym: "anxious personality disorder" EXACT [DOID:1509] xref: DOID:1509 {source="MONDO:equivalentTo"} xref: ICD10CM:F60.6 {source="DOID:1509", source="MONDO:equivalentTo"} +xref: icd11.foundation:429615620 {source="MONDO:equivalentTo"} xref: ICD9:301.82 {source="DOID:1509"} xref: MESH:D010554 {source="DOID:1509"} xref: NCIT:C92636 {source="DOID:1509", source="MONDO:equivalentTo"} @@ -31698,6 +32032,7 @@ xref: DOID:1510 {source="MONDO:equivalentTo"} xref: HP:0012075 {source="MONDO:otherHierarchy"} xref: ICD10CM:F20-F29 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:F60-F69 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} +xref: icd11.foundation:941859884 {source="MONDO:equivalentTo"} xref: ICD9:301.8 {source="DOID:1510"} xref: ICD9:301.89 {source="MONDO:relatedTo", source="DOID:1510", source="MONDO:i2s"} xref: ICD9:301.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -31736,6 +32071,7 @@ def: "Chronic inflammation of the cervix." [NCIT:P378] synonym: "cervicitis (disease), chronic" EXACT [MONDO:patterns/chronic] synonym: "chronic cervicitis (disease)" EXACT [] xref: DOID:1513 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1495469029 {source="MONDO:equivalentTo"} xref: NCIT:C27057 {source="MONDO:equivalentTo", source="DOID:1513"} xref: SCTID:198210003 {source="DOID:1513"} xref: SCTID:56728002 {source="MONDO:equivalentTo", source="DOID:1513"} @@ -32058,6 +32394,7 @@ def: "An abnormal accumulation of cerebrospinal fluid within the ventricles of t synonym: "non-obstructive hydrocephalus" EXACT [NCIT:C34501] xref: DOID:1573 {source="MONDO:equivalentTo"} xref: ICD10CM:G91.0 {source="DOID:1573", source="MONDO:equivalentTo"} +xref: icd11.foundation:186577228 {source="MONDO:equivalentTo"} xref: ICD9:331.3 {source="DOID:1573", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D006849 {source="DOID:1573"} xref: NCIT:C34501 {source="DOID:1573", source="MONDO:equivalentTo"} @@ -32143,6 +32480,7 @@ synonym: "platelet count decreased" EXACT [NCIT:C3408] synonym: "thrombocytopenic disorder" EXACT [NCIT:C3408] xref: DOID:1588 {source="MONDO:equivalentTo"} xref: ICD10CM:D69.6 {source="DOID:1588"} +xref: icd11.foundation:683583694 {source="MONDO:equivalentTo"} xref: ICD9:287.5 {source="DOID:1588", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D013921 {source="DOID:1588", source="MONDO:equivalentTo"} xref: NCIT:C3408 {source="DOID:1588", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:exact-label-match"} @@ -32226,6 +32564,7 @@ xref: ICD10CM:I88.1 {source="DOID:1602"} xref: ICD10CM:I88.9 {source="DOID:1602"} xref: ICD10CM:L04 {source="DOID:1602"} xref: ICD10CM:L04.9 {source="DOID:1602"} +xref: icd11.foundation:1483611415 {source="MONDO:equivalentTo"} xref: ICD9:289.1 {source="DOID:1602"} xref: ICD9:683 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1602"} xref: MESH:D008199 {source="MONDO:equivalentTo", source="DOID:1602"} @@ -32366,6 +32705,7 @@ synonym: "ductal papilloma" EXACT [DOID:1627, NCIT:C3785] synonym: "intraductal papilloma" EXACT [NCIT:C3785] synonym: "intraductal papilloma (morphologic abnormality)" EXACT [DOID:1627] xref: DOID:1627 {source="MONDO:equivalentTo"} +xref: icd11.foundation:288706574 {source="MONDO:equivalentTo"} xref: ICDO:8503/0 {source="NCIT:C3785"} xref: MESH:D018300 {source="MONDO:equivalentTo", source="DOID:1627"} xref: NCIT:C3785 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:1627"} @@ -32514,6 +32854,7 @@ synonym: "VSD" EXACT ABBREVIATION [NCIT:C84506, Orphanet:1480] xref: DOID:1657 {source="MONDO:equivalentTo"} xref: HP:0001629 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q21.0 {source="DOID:1657"} +xref: icd11.foundation:668140715 {source="MONDO:equivalentTo"} xref: ICD9:745.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1657"} xref: MESH:D006345 {source="MONDO:equivalentTo", source="DOID:1657"} xref: NCIT:C84506 {source="MONDO:equivalentTo", source="DOID:1657"} @@ -32663,6 +33004,7 @@ id: MONDO:0002075 name: spontaneous tension pneumothorax xref: DOID:1672 {source="MONDO:equivalentTo"} xref: ICD10CM:J93.0 {source="DOID:1672", source="MONDO:equivalentTo"} +xref: icd11.foundation:304972724 {source="MONDO:equivalentTo"} xref: ICD9:512.0 {source="DOID:1672", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:196102003 {source="DOID:1672", source="MONDO:equivalentTo"} xref: SCTID:76537003 {source="DOID:1672"} @@ -32678,6 +33020,7 @@ synonym: "pneumothorax (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:1673 {source="MONDO:equivalentTo"} xref: HP:0002107 {source="MONDO:otherHierarchy"} xref: ICD10CM:J93.1 {source="DOID:1673"} +xref: icd11.foundation:1946559257 {source="MONDO:equivalentTo"} xref: ICD9:512.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D011030 {source="MONDO:equivalentTo"} xref: NCIT:C38006 {source="MONDO:equivalentTo"} @@ -32815,6 +33158,7 @@ synonym: "Richter's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MO synonym: "Richter's transformation" EXACT [NCIT:C35424] xref: DOID:1703 {source="MONDO:equivalentTo"} xref: ICD10CM:C91.1 {source="DOID:1703"} +xref: icd11.foundation:1736108343 {source="MONDO:equivalentTo"} xref: NCIT:C35424 {source="MONDO:equivalentTo", source="DOID:1703"} xref: SCTID:277550009 {source="MONDO:equivalentTo", source="DOID:1703"} xref: UMLS:C0349631 {source="MONDO:equivalentTo", source="NCIT:C35424", source="DOID:1703"} @@ -32846,6 +33190,8 @@ synonym: "clear cell acanthoma (morphologic abnormality)" EXACT [DOID:172] synonym: "Degos acanthoma" EXACT [NCIT:C97041] synonym: "pale (clear cell) acanthoma" EXACT [DOID:172, NCIT:C4085] xref: DOID:172 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1582724858 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1827417585 {source="MONDO:equivalentTo"} xref: MESH:D049309 {source="DOID:172"} xref: NCIT:C97041 {source="DOID:172", source="MONDO:equivalentTo"} xref: SCTID:254670002 {source="DOID:172", source="MONDO:equivalentTo"} @@ -33244,6 +33590,7 @@ synonym: "lip inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:1762 {source="MONDO:equivalentTo"} xref: HP:0100825 {source="DOID:1762", source="MONDO:otherHierarchy"} xref: ICD10CM:K13.0 {source="DOID:1762"} +xref: icd11.foundation:482914030 {source="MONDO:equivalentTo"} xref: MESH:D002613 {source="DOID:1762", source="MONDO:equivalentTo"} xref: NCIT:C79545 {source="DOID:1762", source="MONDO:equivalentTo"} xref: SCTID:155664000 {source="DOID:1762"} @@ -33302,6 +33649,7 @@ def: "An acute form of megacolon, severe pathological dilatation of the colon. I xref: DOID:1770 {source="MONDO:equivalentTo"} xref: ICD10CM:K59.3 {source="DOID:1770"} xref: ICD10CM:K59.31 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1497870078 {source="MONDO:equivalentTo"} xref: ICD9:564.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D008532 {source="DOID:1770", source="MONDO:equivalentTo"} xref: SCTID:28536002 {source="DOID:1770", source="MONDO:equivalentTo"} @@ -33614,6 +33962,7 @@ synonym: "peripheral ossifying fibroma" RELATED [DOID:180] xref: DOID:180 {source="MONDO:equivalentTo"} xref: EFO:0007412 {source="MONDO:equivalentTo"} xref: HP:0030426 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:1467040586 {source="MONDO:equivalentTo"} xref: ICDO:9262/0 {source="NCIT:C8422"} xref: ICDO:9274/0 {source="NCIT:C8422"} xref: MESH:D018214 {source="DOID:180", source="MONDO:equivalentTo"} @@ -33705,6 +34054,7 @@ synonym: "pathologically calcified structure" EXACT [DOID:182] xref: DOID:182 {source="MONDO:equivalentTo"} xref: EFO:0003837 {source="MONDO:equivalentTo"} xref: HP:0003761 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:1374802956 {source="MONDO:equivalentTo"} xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D002114 {source="MONDO:equivalentTo", source="DOID:182"} xref: NCIT:C3672 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:182"} @@ -33740,6 +34090,7 @@ synonym: "grand mal status" EXACT [DOID:1824] synonym: "SE" RELATED ABBREVIATION [GARD:0010191] xref: DOID:1824 {source="MONDO:equivalentTo"} xref: EFO:0008526 {source="MONDO:equivalentTo"} +xref: icd11.foundation:906174792 {source="MONDO:equivalentTo"} xref: MESH:D013226 {source="MONDO:equivalentTo", source="DOID:1824"} xref: NCIT:C85079 {source="MONDO:equivalentTo", source="DOID:1824"} xref: SCTID:13973009 {source="DOID:1824"} @@ -33766,6 +34117,7 @@ synonym: "urethral stricture" EXACT [MONDO:ambiguous] synonym: "urethral stricture (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:1829 {source="MONDO:equivalentTo"} xref: HP:0012227 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:611219038 {source="MONDO:equivalentTo"} xref: ICD9:598.8 {source="DOID:1829", source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:598.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D014525 {source="MONDO:equivalentTo"} @@ -33784,6 +34136,7 @@ subset: rare synonym: "mononeuritis multiplex" EXACT [DOID:1835, ICD9CM:354.5, NCIT:C70938] xref: DOID:1835 {source="MONDO:equivalentTo"} xref: ICD10CM:G58.7 {source="MONDO:equivalentTo", source="DOID:1835"} +xref: icd11.foundation:1838368265 {source="MONDO:equivalentTo"} xref: ICD9:354.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1835"} xref: NCIT:C70938 {source="MONDO:equivalentTo", source="DOID:1835"} xref: SCTID:30292005 {source="MONDO:equivalentTo", source="DOID:1835"} @@ -33911,6 +34264,7 @@ subset: rare synonym: "rheumatic pericarditis, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic] xref: DOID:1869 {source="MONDO:equivalentTo"} xref: ICD10CM:I09.2 {source="MONDO:equivalentTo", source="DOID:1869"} +xref: icd11.foundation:1473004877 {source="MONDO:equivalentTo"} xref: ICD9:393 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1869"} xref: SCTID:155287003 {source="DOID:1869"} xref: SCTID:194719006 {source="DOID:1869"} @@ -33994,6 +34348,7 @@ name: noninfectious dermatoses of eyelid synonym: "non-infected eyelid dermatoses" EXACT [DOID:1894] xref: DOID:1894 {source="MONDO:equivalentTo"} xref: ICD10CM:H01.1 {source="DOID:1894"} +xref: icd11.foundation:849793428 {source="MONDO:equivalentTo"} xref: ICD9:373.3 {source="DOID:1894"} xref: SCTID:111524003 {source="DOID:1894", source="MONDO:equivalentTo"} xref: SCTID:193919009 {source="DOID:1894"} @@ -34322,6 +34677,7 @@ subset: inferred_rare subset: rare xref: DOID:1943 {source="MONDO:equivalentTo"} xref: ICD10CM:L65.0 {source="MONDO:equivalentTo", source="DOID:1943"} +xref: icd11.foundation:1188535025 {source="MONDO:equivalentTo"} xref: ICD9:704.02 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1943"} xref: NCIT:C112200 {source="MONDO:equivalentTo", source="DOID:1943"} xref: SCTID:201147004 {source="DOID:1943"} @@ -34338,6 +34694,7 @@ synonym: "Trichomonas infection" EXACT [DOID:1947, MONDO:patterns/infectious_dis xref: DOID:1947 {source="MONDO:equivalentTo"} xref: ICD10CM:A59 {source="MONDO:equivalentTo", source="DOID:1947"} xref: ICD10CM:A59.9 {source="DOID:1947"} +xref: icd11.foundation:1220564554 {source="MONDO:equivalentTo"} xref: ICD9:131 {source="DOID:1947"} xref: ICD9:131.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:131.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1947"} @@ -34367,6 +34724,7 @@ synonym: "inflammation of gall bladder" EXACT [] xref: DOID:1949 {source="MONDO:equivalentTo"} xref: ICD10CM:K81 {source="DOID:1949"} xref: ICD10CM:K81.9 {source="DOID:1949"} +xref: icd11.foundation:786251500 {source="MONDO:equivalentTo"} xref: ICD9:575.10 {source="DOID:1949"} xref: ICD9:575.11 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D002764 {source="DOID:1949", source="MONDO:equivalentTo"} @@ -34993,6 +35351,7 @@ synonym: "maxillary sinusitis, acute" EXACT [MONDO:patterns/acute] xref: DOID:2050 {source="MONDO:equivalentTo"} xref: ICD10CM:J01.0 {source="MONDO:equivalentTo", source="DOID:2050"} xref: ICD10CM:J01.00 {source="DOID:2050"} +xref: icd11.foundation:1617309258 {source="MONDO:equivalentTo"} xref: ICD9:461.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2050"} xref: SCTID:155499007 {source="DOID:2050"} xref: SCTID:18714001 {source="DOID:2050"} @@ -35071,6 +35430,7 @@ def: "A benign sweat gland neoplasm usually affecting the lower eyelids and uppe synonym: "eccrine syringoma" EXACT [NCIT:C3761] synonym: "syringoma" EXACT [NCIT:C3761] xref: DOID:2065 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1091480008 {source="MONDO:equivalentTo"} xref: ICDO:8407/0 {source="NCIT:C3761"} xref: MESH:D018252 {source="DOID:2065", source="MONDO:equivalentTo"} xref: NCIT:C3761 {source="DOID:2065", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -35294,6 +35654,7 @@ def: "Arthritis that is not permanent." [https://orcid.org/0000-0002-6601-2165] synonym: "transient arthropathy" BROAD [NCIT:C35761] xref: DOID:2092 {source="MONDO:equivalentTo"} xref: ICD10CM:M12.8 {source="DOID:2092"} +xref: icd11.foundation:846745561 {source="MONDO:equivalentTo"} xref: ICD9:716.4 {source="DOID:2092"} xref: ICD9:716.40 {source="DOID:2092"} xref: NCIT:C35761 {source="DOID:2092"} @@ -35680,6 +36041,7 @@ subset: inferred_rare subset: rare xref: DOID:2148 {source="MONDO:equivalentTo"} xref: ICD10CM:A18.17 {source="DOID:2148"} +xref: icd11.foundation:1634640694 {source="MONDO:equivalentTo"} xref: ICD9:016.6 {source="DOID:2148"} xref: ICD9:016.60 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:186242002 {source="DOID:2148"} @@ -35824,6 +36186,7 @@ synonym: "vaginitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:2170 {source="MONDO:equivalentTo"} xref: EFO:0005757 {source="MONDO:equivalentTo"} xref: HP:0030683 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:290861382 {source="MONDO:equivalentTo"} xref: ICD9:616.1 {source="DOID:2170"} xref: ICD9:616.10 {source="DOID:2170"} xref: MESH:D014627 {source="MONDO:equivalentTo", source="DOID:2170"} @@ -35942,6 +36305,7 @@ synonym: "carbuncle and furuncle of trunk" EXACT [DOID:2176] synonym: "carbuncle and furuncle of upper arm and forearm" EXACT [DOID:2176] xref: DOID:2176 {source="MONDO:equivalentTo"} xref: EFO:1000674 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1456834066 {source="MONDO:equivalentTo"} xref: ICD9:680.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:680.9 {source="DOID:2176", source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D002270 {source="MONDO:equivalentTo"} @@ -36451,6 +36815,7 @@ subset: rare synonym: "capillary lymphangioma" EXACT [MONDO:patterns/location] synonym: "cutaneous lymphangioma" RELATED [DOID:2286] xref: DOID:2286 {source="MONDO:equivalentTo"} +xref: icd11.foundation:914125517 {source="MONDO:equivalentTo"} xref: NCIT:C27509 {source="DOID:2286", source="MONDO:directSiblingOf"} xref: SCTID:445492005 {source="MONDO:equivalentTo"} xref: UMLS:C1333176 {source="DOID:2286", source="MONDO:directSiblingOf"} @@ -36567,6 +36932,7 @@ xref: DOID:2321 {source="MONDO:equivalentObsolete"} xref: EFO:0008533 {source="MONDO:equivalentTo"} xref: ICD10CM:K30 {source="DOID:2321"} xref: ICD10CM:R10.13 {source="DOID:2321"} +xref: icd11.foundation:869622187 {source="MONDO:equivalentTo"} xref: MESH:D004415 {source="DOID:2321", source="MONDO:equivalentTo"} xref: NCIT:C26756 {source="DOID:2321", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:exact-label-match"} xref: SCTID:139299007 {source="DOID:2321"} @@ -37206,6 +37572,7 @@ subset: inferred_rare subset: rare synonym: "glomangioma" EXACT [NCIT:C4222] xref: DOID:2436 {source="MONDO:equivalentTo"} +xref: icd11.foundation:115065491 {source="MONDO:equivalentTo"} xref: ICDO:8712/0 {source="NCIT:C4222"} xref: MESH:D005918 {source="DOID:2436"} xref: NCIT:C4222 {source="MONDO:equivalentTo", source="DOID:2436", source="MONDO:exact-label-match"} @@ -37280,6 +37647,7 @@ synonym: "retinal vein occlusion of central retinal vein" EXACT [MONDO:design_pa xref: DOID:2450 {source="MONDO:equivalentTo"} xref: GARD:21734 {source="Orphanet:411527"} xref: ICD10CM:H34.81 {source="DOID:2450"} +xref: icd11.foundation:1146548497 {source="MONDO:equivalentTo"} xref: ICD9:362.35 {source="DOID:2450", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C118859 {source="DOID:2450", source="MONDO:equivalentTo"} xref: Orphanet:411527 {source="MONDO:equivalentTo"} @@ -37323,6 +37691,7 @@ synonym: "hypercoagulability state" EXACT [DOID:2452] synonym: "hypercoagulable" EXACT [NCIT:C84479] xref: DOID:2452 {source="MONDO:equivalentTo"} xref: ICD10CM:D68.59 {source="DOID:2452"} +xref: icd11.foundation:1733531851 {source="MONDO:equivalentTo"} xref: ICD9:286.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D019851 {source="DOID:2452", source="MONDO:equivalentTo"} xref: NCIT:C84479 {source="DOID:2452", source="MONDO:equivalentTo"} @@ -37339,6 +37708,7 @@ name: angular blepharoconjunctivitis def: "A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area." [DOID:2455, http://dro.hs.columbia.edu/angbleph.htm] xref: DOID:2455 {source="MONDO:equivalentTo"} xref: ICD10CM:H10.52 {source="DOID:2455"} +xref: icd11.foundation:602571061 {source="MONDO:equivalentTo"} xref: ICD9:372.21 {source="DOID:2455", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:193871000 {source="DOID:2455"} xref: SCTID:69397000 {source="DOID:2455", source="MONDO:equivalentTo"} @@ -37352,6 +37722,7 @@ def: "Inflammation of both the eyelids and the conjunctiva." [NCIT:P378] xref: DOID:2456 {source="MONDO:equivalentTo"} xref: ICD10CM:H10.5 {source="MONDO:equivalentTo", source="DOID:2456"} xref: ICD10CM:H10.50 {source="DOID:2456"} +xref: icd11.foundation:956823887 {source="MONDO:equivalentTo"} xref: ICD9:372.2 {source="DOID:2456"} xref: ICD9:372.20 {source="MONDO:equivalentTo", source="DOID:2456", source="MONDO:i2s"} xref: NCIT:C34430 {source="MONDO:equivalentTo", source="DOID:2456"} @@ -37372,6 +37743,7 @@ name: giant papillary conjunctivitis def: "Conjunctivitis that is associated with contact lens wear, and which is characterized by giant papillae in the tarsal conjunctiva." [NCIT:P378] synonym: "GPC" RELATED ABBREVIATION [GARD:0008445] xref: DOID:2457 {source="MONDO:equivalentTo"} +xref: icd11.foundation:8559059 {source="MONDO:equivalentTo"} xref: ICD9:372.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D003233 {source="DOID:2457"} xref: NCIT:C34507 {source="DOID:2457", source="MONDO:equivalentTo"} @@ -37386,6 +37758,7 @@ id: MONDO:0002309 name: papillary conjunctivitis def: "Conjunctivitis that is characterized by the formation of papillae on the palpebral conjunctiva." [NCIT:P378] xref: DOID:2458 {source="MONDO:equivalentTo"} +xref: icd11.foundation:392841027 {source="MONDO:equivalentTo"} xref: ICD9:372.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C35616 {source="MONDO:equivalentTo", source="DOID:2458"} xref: SCTID:416878008 {source="MONDO:equivalentTo", source="DOID:2458"} @@ -37397,6 +37770,7 @@ id: MONDO:0002310 name: anterior dislocation of lens xref: DOID:2460 {source="MONDO:equivalentTo"} xref: ICD10CM:H27.12 {source="DOID:2460"} +xref: icd11.foundation:2072438249 {source="MONDO:equivalentTo"} xref: ICD9:379.33 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2460"} xref: SCTID:194160006 {source="DOID:2460"} xref: SCTID:37283009 {source="MONDO:equivalentTo", source="DOID:2460"} @@ -37443,6 +37817,7 @@ name: vernal conjunctivitis def: "Inflammation of the cornea that is seasonal in nature." [NCIT:P378] xref: DOID:2474 {source="MONDO:equivalentTo"} xref: ICD10CM:H10.44 {source="DOID:2474", source="MONDO:equivalentTo"} +xref: icd11.foundation:1653249836 {source="MONDO:equivalentTo"} xref: ICD9:372.13 {source="DOID:2474", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D003233 {source="DOID:2474"} xref: NCIT:C34508 {source="DOID:2474", source="MONDO:equivalentTo"} @@ -37464,6 +37839,7 @@ synonym: "conjunctivitis (disease), chronic" EXACT [MONDO:patterns/chronic] xref: DOID:2475 {source="MONDO:equivalentTo"} xref: ICD10CM:H10.4 {source="DOID:2475", source="MONDO:equivalentTo"} xref: ICD10CM:H10.40 {source="DOID:2475"} +xref: icd11.foundation:1548498139 {source="MONDO:equivalentTo"} xref: ICD9:372.1 {source="DOID:2475"} xref: ICD9:372.10 {source="DOID:2475", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C35197 {source="DOID:2475", source="MONDO:equivalentTo"} @@ -37645,6 +38021,7 @@ synonym: "Senile angioma" EXACT [NCIT:C4390] synonym: "Senile hemangioma" EXACT [DOID:2495, NCIT:C4390] synonym: "Senile naevus of skin" EXACT [DOID:2495] xref: DOID:2495 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1225587871 {source="MONDO:equivalentTo"} xref: NCIT:C4390 {source="DOID:2495", source="MONDO:equivalentTo"} xref: SCTID:11790000 {source="DOID:2495"} xref: SCTID:5050001 {source="DOID:2495", source="MONDO:equivalentTo"} @@ -38004,6 +38381,7 @@ def: "Pathological processes involving the chondral tissue (cartilage)." [MESH:D xref: DOID:2557 {source="MONDO:equivalentTo"} xref: ICD10CM:M94.2 {source="MONDO:equivalentTo", source="DOID:2557"} xref: ICD10CM:M94.20 {source="DOID:2557"} +xref: icd11.foundation:547071520 {source="MONDO:equivalentTo"} xref: ICD9:733.92 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2557"} xref: MESH:D002357 {source="DOID:2557"} xref: SCTID:203512007 {source="DOID:2557"} @@ -38051,6 +38429,7 @@ synonym: "cervicitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:2568 {source="MONDO:equivalentTo"} xref: HP:0030160 {source="MONDO:otherHierarchy"} xref: ICD10CM:N72 {source="DOID:2568"} +xref: icd11.foundation:1433247301 {source="MONDO:equivalentTo"} xref: ICD9:616.0 {source="DOID:2568"} xref: MESH:D002575 {source="MONDO:equivalentTo", source="DOID:2568"} xref: NCIT:C26716 {source="MONDO:equivalentTo", source="DOID:2568"} @@ -38105,6 +38484,7 @@ synonym: "congenital nephrotic syndrome" EXACT [DOID:2590, NCIT:C35337] synonym: "hereditary nephrotic syndrome" EXACT [MONDO:patterns/hereditary] xref: DOID:2590 {source="MONDO:equivalentTo"} xref: ICD10CM:N04 {source="DOID:2590"} +xref: icd11.foundation:1524476844 {source="MONDO:equivalentTo"} xref: MESH:C535761 {source="DOID:2590"} xref: NCIT:C35337 {source="MONDO:equivalentTo", source="DOID:2590"} xref: OMIMPS:256300 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} @@ -38351,6 +38731,7 @@ synonym: "juxtacortical chondroma" EXACT [NCIT:C4302] synonym: "juxtacortical chondroma (morphologic abnormality)" EXACT [DOID:2601] synonym: "periosteal chondroma" EXACT [DOID:2601, NCIT:C4302] xref: DOID:2601 {source="MONDO:equivalentTo"} +xref: icd11.foundation:940444543 {source="MONDO:equivalentTo"} xref: ICDO:9221/0 {source="NCIT:C4302"} xref: NCIT:C4302 {source="MONDO:equivalentTo", source="DOID:2601"} xref: SCTID:9266000 {source="DOID:2601"} @@ -38419,6 +38800,7 @@ synonym: "serous surface papilloma" EXACT [DOID:2614, NCIT:C4181] synonym: "serous surface papilloma (morphologic abnormality)" EXACT [DOID:2614] synonym: "serous surface papilloma NOS (morphologic abnormality)" EXACT [DOID:2614] xref: DOID:2614 {source="MONDO:equivalentTo"} +xref: icd11.foundation:24197924 {source="MONDO:equivalentTo"} xref: ICDO:8461/0 {source="NCIT:C4181"} xref: NCIT:C4181 {source="MONDO:equivalentTo", source="DOID:2614", source="MONDO:exact-label-match"} xref: SCTID:189689007 {source="DOID:2614"} @@ -38550,6 +38932,7 @@ synonym: "papillary serous cystadenocarcinoma" EXACT [NCIT:C8377] synonym: "serous surface papillary carcinoma" RELATED EXCLUDE [DOID:2632] synonym: "serous surface papillary carcinoma (morphologic abnormality)" EXACT [DOID:2632] xref: DOID:2632 {source="MONDO:equivalentTo"} +xref: icd11.foundation:775012748 {source="MONDO:equivalentTo"} xref: ICDO:8460/3 {source="NCIT:C8377"} xref: NCIT:C8377 {source="MONDO:equivalentTo", source="DOID:2632"} xref: SCTID:15674004 {source="DOID:2632"} @@ -38693,6 +39076,7 @@ synonym: "sebaceous adenoma (morphologic abnormality)" EXACT [DOID:2648] synonym: "sebaceous gland adenoma" EXACT [MONDO:patterns/location] synonym: "skin appendage sebaceous adenoma" EXACT [DOID:2648] xref: DOID:2648 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1161799165 {source="MONDO:equivalentTo"} xref: ICDO:8410/0 {source="NCIT:C4174"} xref: NCIT:C4174 {source="MONDO:equivalentTo", source="DOID:2648", source="MONDO:exact-label-match"} xref: SCTID:78424008 {source="DOID:2648"} @@ -38765,6 +39149,7 @@ synonym: "teratoma, benign (morphologic abnormality)" RELATED [DOID:2658] xref: DOID:2658 {source="MONDO:equivalentTo"} xref: EFO:1000894 {source="MONDO:equivalentTo"} xref: ICD10CM:K09.8 {source="DOID:2658"} +xref: icd11.foundation:1622534741 {source="MONDO:equivalentTo"} xref: ICDO:9084/0 {source="NCIT:C9011"} xref: MESH:D003884 {source="MONDO:equivalentTo", source="DOID:2658"} xref: NCIT:C9011 {source="MONDO:equivalentTo", source="DOID:2658", source="MONDO:exact-label-match"} @@ -38789,6 +39174,7 @@ subset: inferred_rare subset: rare synonym: "cystic teratoma" EXACT [NCIT:C9014] xref: DOID:2660 {source="MONDO:equivalentTo"} +xref: icd11.foundation:882254343 {source="MONDO:equivalentTo"} xref: NCIT:C9014 {source="DOID:2660", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:42717009 {source="DOID:2660"} xref: UMLS:C1368903 {source="DOID:2660", source="NCIT:C9014", source="MONDO:equivalentTo"} @@ -38901,6 +39287,7 @@ synonym: "benign multilocular cystic nephroma" EXACT [Wikipedia:Cystic_nephroma] synonym: "cystic nephroma" EXACT [NCIT:C7504] xref: DOID:2673 {source="MONDO:equivalentTo"} xref: EFO:1000213 {source="MONDO:equivalentTo"} +xref: icd11.foundation:883958104 {source="MONDO:equivalentTo"} xref: ICDO:8959/0 {source="NCIT:C7504"} xref: NCIT:C7504 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1266138 {source="MONDO:equivalentTo", source="NCIT:C7504"} @@ -38969,6 +39356,7 @@ synonym: "intracystic papillary adenoma" EXACT [NCIT:C4191] synonym: "intracystic papillary adenoma (morphologic abnormality)" EXACT [DOID:2682] synonym: "intracystic papilloma" EXACT [DOID:2682, NCIT:C4191] xref: DOID:2682 {source="MONDO:equivalentTo"} +xref: icd11.foundation:74208820 {source="MONDO:equivalentTo"} xref: ICDO:8504/0 {source="NCIT:C4191"} xref: NCIT:C4191 {source="DOID:2682", source="MONDO:equivalentObsolete"} xref: SCTID:47488001 {source="DOID:2682"} @@ -39030,6 +39418,7 @@ name: nephrogenic adenofibroma def: "A benign, solitary, and partially cystic neoplasm arising from the kidney. It occurs in children and adults. Presenting symptoms include hematuria and polycythemia. It is characterized by the presence of epithelial nodules embedded in a stroma containing spindle cells." [NCIT:P378] synonym: "metanephric adenofibroma" EXACT [DOID:2698, NCIT:C39812] xref: DOID:2698 {source="MONDO:equivalentTo"} +xref: icd11.foundation:549924562 {source="MONDO:equivalentTo"} xref: ICDO:8965/0 {source="NCIT:C39812"} xref: NCIT:C39812 {source="MONDO:equivalentTo", source="DOID:2698"} xref: SCTID:128760004 {source="DOID:2698"} @@ -39399,6 +39788,7 @@ name: narcissistic personality disorder def: "A disorder characterized by an enduring pattern of grandiose beliefs and arrogant behavior together with an overwhelming need for admiration and a lack of empathy for (and even exploitation of) others." [NCIT:P378] xref: DOID:2745 {source="MONDO:equivalentTo"} xref: ICD10CM:F60.81 {source="MONDO:equivalentTo", source="DOID:2745"} +xref: icd11.foundation:641223668 {source="MONDO:equivalentTo"} xref: ICD9:301.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2745"} xref: MESH:D010554 {source="DOID:2745"} xref: NCIT:C92635 {source="MONDO:equivalentTo", source="DOID:2745"} @@ -39659,6 +40049,7 @@ xref: DOID:2775 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:2776 {source="MONDO:equivalentTo"} xref: GARD:16660 {source="Orphanet:55881"} xref: ICD10CM:C40.2 {source="Orphanet:55881/index", source="Orphanet:55881/ntbt", source="Orphanet:55881", source="MONDO:directSiblingOf"} +xref: icd11.foundation:2013322169 {source="MONDO:equivalentTo"} xref: ICD9:170.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9261/3 {source="NCIT:C7644"} xref: MESH:C562741 {source="MONDO:equivalentTo", source="DOID:2775"} @@ -40130,6 +40521,7 @@ synonym: "Romano-Ward syndrome" RELATED EXCLUDE [DOID:2843] synonym: "ventricular arrhythmia associated with long QT syndrome" EXACT [NCIT:C34786] xref: DOID:2843 {source="MONDO:equivalentTo"} xref: ICD10CM:I45.81 {source="MONDO:equivalentTo", source="DOID:2843"} +xref: icd11.foundation:1208831985 {source="MONDO:equivalentTo"} xref: ICD9:426.82 {source="DOID:2843"} xref: MESH:D008133 {source="MONDO:equivalentTo", source="DOID:2843"} xref: MESH:D029597 {source="DOID:2843"} @@ -40162,6 +40554,7 @@ xref: DOID:2846 {source="MONDO:equivalentTo"} xref: HP:0003763 {source="MONDO:otherHierarchy"} xref: ICD10CM:F45.8 {source="DOID:2846"} xref: ICD10CM:G47.63 {source="DOID:2846"} +xref: icd11.foundation:1046319083 {source="MONDO:equivalentTo"} xref: ICD9:327.53 {source="DOID:2846"} xref: MESH:D002012 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="DOID:2846"} xref: MESH:D020186 {source="DOID:2846"} @@ -40407,6 +40800,7 @@ synonym: "Treacher-Collins syndrome" EXACT CLINGEN_LABEL [] xref: DOID:2908 {source="MONDO:equivalentTo"} xref: GARD:9124 {source="Orphanet:861"} xref: ICD10CM:Q75.4 {source="DOID:2908", source="Orphanet:861/ntbt", source="Orphanet:861/inclusion", source="Orphanet:861"} +xref: icd11.foundation:969026676 {source="MONDO:equivalentTo"} xref: MedDRA:10051456 {source="Orphanet:861/e", source="Orphanet:861"} xref: MESH:D008342 {source="DOID:2908"} xref: NCIT:C75018 {source="DOID:2908", source="MONDO:equivalentTo"} @@ -40755,6 +41149,7 @@ synonym: "shoulders, frozen" RELATED [MESH:D002062] synonym: "synovial bursa inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:2965 {source="MONDO:equivalentTo"} xref: ICD10CM:M71.9 {source="DOID:2965"} +xref: icd11.foundation:1984620329 {source="MONDO:equivalentTo"} xref: ICD9:727.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D002062 {source="MONDO:equivalentTo", source="DOID:2965"} xref: NCIT:C94407 {source="MONDO:equivalentTo", source="DOID:2965"} @@ -40776,6 +41171,7 @@ def: "A carcinoma arising in a pre-existing pleomorphic adenoma. It most often o synonym: "carcinoma ex pleomorphic adenoma" EXACT [NCIT:C4397] synonym: "carcinoma ex pleomorphic adenoma (morphologic abnormality)" EXACT [DOID:297] synonym: "carcinoma in pleomorphic adenoma" EXACT [DOID:297, NCIT:C4397] +xref: icd11.foundation:979757212 {source="MONDO:equivalentTo"} xref: ICDO:8941/3 {source="NCIT:C4397"} xref: NCIT:C4397 {source="MONDO:equivalentTo", source="DOID:297"} xref: SCTID:17264009 {source="DOID:297"} @@ -40860,6 +41256,7 @@ name: anuria def: "Absence of urine output." [NCIT:P378] synonym: "suppression of urinary secretion" EXACT [DOID:2983] xref: DOID:2983 {source="MONDO:equivalentTo"} +xref: icd11.foundation:248693056 {source="MONDO:equivalentTo"} xref: MESH:D001002 {source="DOID:2983", source="MONDO:equivalentTo"} xref: NCIT:C114699 {source="DOID:2983", source="MONDO:otherHierarchy"} xref: SCTID:139460001 {source="DOID:2983"} @@ -41195,6 +41592,7 @@ synonym: "kidney failure, acute" EXACT [MONDO:patterns/acute] xref: DOID:3021 {source="MONDO:equivalentTo"} xref: ICD10CM:N17 {source="MONDO:equivalentTo"} xref: ICD10CM:N17-N19 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} +xref: icd11.foundation:476391827 {source="MONDO:equivalentTo"} xref: MESH:D058186 {source="MONDO:equivalentTo"} xref: NCIT:C26808 {source="MONDO:equivalentTo"} xref: UMLS:C0022660 {source="NCIT:C26808", source="MONDO:notFoundInDiseaseSubset"} @@ -41788,6 +42186,7 @@ synonym: "mucinoses" RELATED [DOID:3141] synonym: "mucinosis" EXACT [DOID:3141, MESH:D017520] synonym: "mucinosis affecting the skin" EXACT [] xref: DOID:3141 {source="MONDO:equivalentTo"} +xref: icd11.foundation:2018255084 {source="MONDO:equivalentTo"} xref: ICD9:701.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D017520 {source="MONDO:equivalentTo", source="DOID:3141"} xref: SCTID:11528001 {source="DOID:3141"} @@ -41850,6 +42249,8 @@ name: keratoacanthoma def: "A dome-shaped, rapidly growing skin lesion composed of well differentiated squamous cells. It represents a proliferation of the infundibular epithelium of the hair follicle and its morphologic distinction from a well differentiated carcinoma may be difficult or impossible. Keratoacanthomas affect males more frequently than females and the majority tend to regress spontaneously. It has been suggested that keratoacanthoma represents a distinct subtype of squamous cell carcinoma of the skin." [NCIT:C3146] comment: Clinically and histologically, it may be confused with a de novo highly malignant squamous cell carcinoma (SCC). However, KA may be viewed as an abortive cancer that only rarely progresses into an aggressive SCC - PMID:8277007. xref: DOID:3149 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1072073638 {source="MONDO:equivalentTo"} +xref: icd11.foundation:516478127 {source="MONDO:equivalentTo"} xref: ICDO:8071/1 {source="NCIT:C3146"} xref: MESH:D007636 {source="MONDO:equivalentTo", source="DOID:3149"} xref: NCIT:C3146 {source="MONDO:equivalentTo", source="DOID:3149", source="MONDO:exact-label-match"} @@ -42031,6 +42432,7 @@ id: MONDO:0002535 name: verrucous papilloma def: "A benign epithelial neoplasm characterized by a papillary growth pattern, lack of significant cytologic atypia, and a wart-like appearance." [NCIT:P378] xref: DOID:3177 {source="MONDO:equivalentTo"} +xref: icd11.foundation:2026386410 {source="MONDO:equivalentTo"} xref: ICDO:8051/0 {source="NCIT:C4101"} xref: NCIT:C4101 {source="DOID:3177", source="MONDO:equivalentTo"} xref: SCTID:48218007 {source="DOID:3177"} @@ -42304,6 +42706,7 @@ synonym: "cellular neurinoma" EXACT [DOID:3196, NCIT:C4724] synonym: "cellular schwannoma" EXACT [NCIT:C4724] synonym: "CSCHW" RELATED ABBREVIATION [ONCOTREE:CSCHW] xref: DOID:3196 {source="MONDO:equivalentTo"} +xref: icd11.foundation:852768588 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4724 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3196"} xref: ONCOTREE:CSCHW {source="MONDO:equivalentTo"} @@ -42542,6 +42945,7 @@ synonym: "plexiform neurinoma" EXACT [DOID:3206, NCIT:C6969] synonym: "plexiform schwannoma" EXACT [DOID:3206] synonym: "plexiform schwannoma (morphologic abnormality)" EXACT [DOID:3206] xref: DOID:3206 {source="MONDO:equivalentTo"} +xref: icd11.foundation:215477652 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C6969 {source="MONDO:equivalentTo", source="DOID:3206"} xref: SCTID:253087008 {source="DOID:3206"} @@ -42660,6 +43064,7 @@ synonym: "inflammation of spinal cord" EXACT [] synonym: "spinal cord inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:322 {source="MONDO:equivalentTo"} xref: EFO:1001472 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1993728609 {source="MONDO:equivalentTo"} xref: ICD9:323.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D009187 {source="MONDO:equivalentTo", source="DOID:322"} xref: NCIT:C26832 {source="MONDO:equivalentTo", source="DOID:322"} @@ -42757,6 +43162,7 @@ xref: DOID:3234 {source="MONDO:equivalentTo"} xref: EFO:1000157 {source="MONDO:equivalentTo"} xref: GARD:9318 {source="Orphanet:46135"} xref: ICD10CM:C83.3 {source="Orphanet:46135/ntbt", source="Orphanet:46135"} +xref: icd11.foundation:1133193893 {source="MONDO:equivalentTo"} xref: ICD9:200.5 {source="DOID:3234"} xref: MedDRA:10036685 {source="Orphanet:46135/e", source="Orphanet:46135"} xref: NCIT:C9301 {source="DOID:3234", source="ONCOTREE:PCNSL", source="EFO:1000157", source="MONDO:equivalentTo"} @@ -42945,6 +43351,7 @@ subset: rare synonym: "SCRMS" RELATED ABBREVIATION [ONCOTREE:SCRMS] synonym: "spindle cell rhabdomyosarcoma (morphologic abnormality)" EXACT [DOID:3260] xref: DOID:3260 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1373994611 {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8912/3 {source="NCIT:C6519"} xref: NCIT:C6519 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3260"} @@ -43155,6 +43562,7 @@ synonym: "infections, Monkeypox virus" RELATED [MONDO:patterns/infectious_diseas synonym: "Monkeypox virus infection" EXACT [GARD:0010722, MONDO:patterns/infectious_disease_by_agent] xref: DOID:3292 {source="MONDO:equivalentTo"} xref: ICD10CM:B04 {source="MONDO:equivalentTo", source="DOID:3292"} +xref: icd11.foundation:160886685 {source="MONDO:equivalentTo"} xref: ICD9:059.01 {source="DOID:3292"} xref: ICD9:136.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D045908 {source="MONDO:equivalentTo", source="DOID:3292"} @@ -43176,6 +43584,7 @@ id: MONDO:0002595 name: vaccinia def: "The cutaneous and occasional systemic reactions associated with vaccination using smallpox (variola) vaccine." [MESH:D014615] xref: DOID:3298 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1275065853 {source="MONDO:equivalentTo"} xref: ICD9:999.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D014615 {source="DOID:3298", source="MONDO:equivalentTo"} xref: SCTID:111852003 {source="DOID:3298", source="MONDO:equivalentTo"} @@ -43227,6 +43636,7 @@ synonym: "germinoma" EXACT [MONDO:ambiguous, NCIT:C3753] synonym: "germinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:3304 {source="MONDO:equivalentTo"} xref: HP:0100620 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:1898283933 {source="MONDO:equivalentTo"} xref: ICDO:9064/3 {source="NCIT:C3753"} xref: MESH:D018237 {source="DOID:3304", source="MONDO:equivalentTo"} xref: NCIT:C3753 {source="MONDO:equivalentObsolete", source="DOID:3304"} @@ -43248,6 +43658,7 @@ synonym: "mixed embryonal carcinoma and teratoma" EXACT [DOID:3305, NCIT:C3756] synonym: "teratocarcinoma" EXACT [NCIT:C3756] synonym: "teratocarcinoma (morphologic abnormality)" EXACT [DOID:3305] xref: DOID:3305 {source="MONDO:equivalentTo"} +xref: icd11.foundation:372407741 {source="MONDO:equivalentTo"} xref: ICDO:9081/3 {source="NCIT:C3756"} xref: MESH:D018243 {source="MONDO:equivalentTo", source="DOID:3305"} xref: NCIT:C3756 {source="MONDO:equivalentTo", source="DOID:3305"} @@ -43330,6 +43741,7 @@ subset: inferred_rare subset: rare synonym: "angiomyolipoma (morphologic abnormality)" EXACT [DOID:3314] xref: DOID:3314 {source="MONDO:equivalentTo"} +xref: icd11.foundation:559791414 {source="MONDO:equivalentTo"} xref: ICDO:8860/0 {source="NCIT:C3734"} xref: MESH:D018207 {source="MONDO:equivalentTo", source="DOID:3314"} xref: NCIT:C3734 {source="MONDO:equivalentTo", source="DOID:3314"} @@ -43457,6 +43869,7 @@ synonym: "histrionic personality disorder (disease)" EXACT [https://orcid.org/00 xref: DOID:334 {source="MONDO:equivalentTo"} xref: HP:0012077 {source="MONDO:otherHierarchy"} xref: ICD10CM:F60.4 {source="MONDO:equivalentTo", source="DOID:334"} +xref: icd11.foundation:953661315 {source="MONDO:equivalentTo"} xref: ICD9:301.5 {source="DOID:334"} xref: ICD9:301.50 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:334"} xref: ICD9:301.59 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -43777,6 +44190,7 @@ synonym: "chondroblastic osteosarcoma (morphologic abnormality)" EXACT [DOID:337 synonym: "chondrosarcomatous osteogenic sarcoma" EXACT [DOID:3372, NCIT:C4021] synonym: "CHOS" RELATED ABBREVIATION [ONCOTREE:CHOS] xref: DOID:3372 {source="MONDO:equivalentTo"} +xref: icd11.foundation:766703063 {source="MONDO:equivalentTo"} xref: ICDO:9181/3 {source="NCIT:C4021"} xref: NCIT:C4021 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3372"} xref: ONCOTREE:CHOS {source="MONDO:equivalentTo"} @@ -44577,6 +44991,7 @@ synonym: "blepharochalasis (disease)" EXACT [https://orcid.org/0000-0002-6601-21 xref: DOID:348 {source="MONDO:equivalentTo"} xref: HP:0010749 {source="MONDO:otherHierarchy"} xref: ICD10CM:H02.3 {source="DOID:348", source="MONDO:equivalentTo"} +xref: icd11.foundation:583527617 {source="MONDO:equivalentTo"} xref: ICD9:374.34 {source="DOID:348", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:193944001 {source="DOID:348"} xref: SCTID:193962005 {source="DOID:348"} @@ -45034,6 +45449,8 @@ synonym: "atypical papilloma of choroid plexus" EXACT [MONDO:0016720] xref: DOID:3544 {source="MONDO:equivalentTo"} xref: GARD:20723 {source="Orphanet:251902"} xref: ICD10CM:C71.5 {source="Orphanet:251902/ntbt", source="Orphanet:251902"} +xref: icd11.foundation:1640044333 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1903052817 {source="MONDO:equivalentTo"} xref: ICDO:9390/1 {source="NCIT:C53686"} xref: NCIT:C53686 {source="DOID:3544", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:ACPP {source="MONDO:equivalentTo"} @@ -45262,6 +45679,7 @@ xref: DOID:3578 {source="MONDO:equivalentTo"} xref: EFO:1000420 {source="MONDO:equivalentTo"} xref: GARD:17100 {source="Orphanet:206484"} xref: HP:0000149 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:1564602847 {source="MONDO:equivalentTo"} xref: NCIT:C39985 {source="MONDO:equivalentTo", source="DOID:3578"} xref: OMIM:424500 {source="Orphanet:206484/e", source="DOID:3301", source="MONDO:equivalentTo", source="Orphanet:206484"} xref: Orphanet:206484 {source="MONDO:equivalentTo", source="OMIM:424500"} @@ -45472,6 +45890,7 @@ synonym: "angiolipoma, infiltrating" EXACT [DOID:3615] synonym: "angiolipoma, infiltrating (morphologic abnormality)" EXACT [DOID:3615] synonym: "infiltrating angiolipoma" EXACT [DOID:3615] xref: DOID:3615 {source="MONDO:equivalentTo"} +xref: icd11.foundation:467923410 {source="MONDO:equivalentTo"} xref: NCIT:C7449 {source="MONDO:equivalentTo", source="DOID:3615"} xref: SCTID:189781004 {source="DOID:3615"} xref: SCTID:24045002 {source="DOID:3615"} @@ -46352,6 +46771,7 @@ synonym: "uterine corpus mucinous adenocarcinoma" RELATED [DOID:3707, NCIT:C4014 synonym: "uterine mucinous carcinoma" RELATED [ONCOTREE:UMC] xref: DOID:3707 {source="MONDO:equivalentTo"} xref: EFO:1000236 {source="MONDO:equivalentTo"} +xref: icd11.foundation:395055399 {source="MONDO:equivalentTo"} xref: NCIT:C40144 {source="MONDO:equivalentTo", source="EFO:1000236", source="DOID:3707"} xref: ONCOTREE:UMC {source="MONDO:equivalentTo"} xref: UMLS:C0854923 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C40144"} @@ -46481,6 +46901,7 @@ synonym: "plasmacytoma, extramedullary (not occurring in bone)" EXACT [DOID:3720 xref: DOID:3720 {source="MONDO:equivalentTo"} xref: ICD10CM:C90.2 {source="DOID:3720", source="MONDO:equivalentTo"} xref: ICD10CM:C90.20 {source="DOID:3720"} +xref: icd11.foundation:246947217 {source="MONDO:equivalentTo"} xref: ICD9:203.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9734/3 {source="NCIT:C4002"} xref: NCIT:C4002 {source="DOID:3720", source="MONDO:equivalentTo"} @@ -46769,6 +47190,7 @@ name: vaginal discharge def: "Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer." [NCIT:C50795] synonym: "Discharge, vaginal" EXACT [NCIT:C50795] xref: DOID:3767 {source="MONDO:equivalentTo"} +xref: icd11.foundation:2123556104 {source="MONDO:equivalentTo"} xref: MESH:D019522 {source="MONDO:equivalentTo", source="DOID:3767"} xref: NCIT:C50795 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:3767"} xref: SCTID:139439007 {source="DOID:3767"} @@ -46831,6 +47253,7 @@ id: MONDO:0002775 name: anovulation def: "The absence of ovulation." [NCIT:P378] xref: DOID:3781 {source="MONDO:equivalentTo"} +xref: icd11.foundation:563648258 {source="MONDO:equivalentTo"} xref: MESH:D000858 {source="DOID:3781", source="MONDO:equivalentTo"} xref: NCIT:C34388 {source="DOID:3781", source="MONDO:otherHierarchy"} xref: SCTID:34571000 {source="DOID:3781"} @@ -47123,6 +47546,7 @@ synonym: "large cell medulloblastoma" EXACT [DOID:3857, NCIT:C6904] synonym: "large cell medulloblastoma (morphologic abnormality)" EXACT [DOID:3857] xref: DOID:3857 {source="MONDO:equivalentTo"} xref: EFO:0008508 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1476046677 {source="MONDO:equivalentTo"} xref: ICDO:9474/3 {source="NCIT:C6904"} xref: NCIT:C6904 {source="MONDO:equivalentTo", source="DOID:3857", source="MONDO:exact-label-match"} xref: SCTID:128790006 {source="DOID:3857"} @@ -47207,6 +47631,7 @@ synonym: "melanocytic medulloblastoma" EXACT [NCIT:C9497] synonym: "melanotic medulloblastoma" EXACT [DOID:3868, NCIT:C9497] synonym: "MMBL" RELATED ABBREVIATION [ONCOTREE:MMBL] xref: DOID:3868 {source="MONDO:equivalentTo"} +xref: icd11.foundation:2025477627 {source="MONDO:equivalentTo"} xref: MESH:D008527 {source="DOID:3868"} xref: NCIT:C9497 {source="MONDO:equivalentTo", source="DOID:3868"} xref: ONCOTREE:MMBL {source="MONDO:equivalentTo"} @@ -47368,6 +47793,7 @@ name: apocrine adenoma def: "A benign epithelial neoplasm arising from the apocrine sweat glands. Representative examples include tubular apocrine adenoma and external auditory canal ceruminous adenoma." [NCIT:P378] synonym: "tubular apocrine adenoma" NARROW [DOID:3895, NCIT:C27527] xref: DOID:3895 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1216423779 {source="MONDO:equivalentTo"} xref: ICDO:8401/0 {source="NCIT:C4168"} xref: NCIT:C27527 {source="DOID:3895"} xref: NCIT:C4168 {source="DOID:3895", source="MONDO:equivalentTo"} @@ -47718,6 +48144,7 @@ synonym: "trabecular adenocarcinoma" EXACT [NCIT:C4068] synonym: "trabecular adenocarcinoma (morphologic abnormality)" EXACT [DOID:3965] synonym: "trabecular carcinoma" EXACT [DOID:3965, NCIT:C4068] xref: DOID:3965 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1072853993 {source="MONDO:equivalentTo"} xref: ICDO:8190/3 {source="NCIT:C4068"} xref: ICDO:8332/3 {source="NCIT:C4068"} xref: NCIT:C4068 {source="MONDO:equivalentTo", source="DOID:3965"} @@ -47973,6 +48400,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "eosinophilic gastritis" EXACT [NCIT:C27052] xref: DOID:4030 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1944772274 {source="MONDO:equivalentTo"} xref: ICD9:535.40 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:535.7 {source="DOID:4030"} xref: ICD9:535.70 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -48028,6 +48456,7 @@ id: MONDO:0002844 name: lymphocytic gastritis synonym: "lymphocytic gastritis" EXACT [NCIT:C27051] xref: DOID:4035 {source="MONDO:equivalentTo"} +xref: icd11.foundation:2052188597 {source="MONDO:equivalentTo"} xref: ICD9:535.40 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C27051 {source="DOID:4035", source="MONDO:equivalentTo"} xref: SCTID:235658000 {source="DOID:4035"} @@ -48244,6 +48673,7 @@ synonym: "rhabdomyosarcoma with ganglionic differentiation" EXACT [DOID:4055] synonym: "rhabdomyosarcoma with ganglionic differentiation (morphologic abnormality)" EXACT [DOID:4055] synonym: "sarcoma with ganglionic or neuroectodermal differentiation" EXACT [NCIT:C4716] xref: DOID:4055 {source="MONDO:equivalentTo"} +xref: icd11.foundation:27174852 {source="MONDO:equivalentTo"} xref: ICDO:8921/3 {source="NCIT:C4716"} xref: NCIT:C4716 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4055"} xref: SCTID:128750008 {source="DOID:4055"} @@ -48539,6 +48969,7 @@ synonym: "tricuspid insufficiency" EXACT [NCIT:C50842] synonym: "tricuspid regurgitation" EXACT [DOID:4080] synonym: "tricuspid valve regurgitation" EXACT [DOID:4080] xref: DOID:4080 {source="MONDO:equivalentTo"} +xref: icd11.foundation:770887951 {source="MONDO:equivalentTo"} xref: MESH:D014262 {source="DOID:4080", source="MONDO:equivalentTo"} xref: NCIT:C50842 {source="DOID:4080", source="MONDO:equivalentTo"} xref: NCIT:C50843 {source="DOID:4080"} @@ -48930,6 +49361,7 @@ synonym: "infection due to Corynebacterium minutissimum" EXACT [DOID:4131] xref: DOID:4131 {source="MONDO:equivalentTo"} xref: EFO:1000696 {source="MONDO:equivalentTo"} xref: ICD10CM:L08.1 {source="MONDO:equivalentTo", source="DOID:4131"} +xref: icd11.foundation:272312002 {source="MONDO:equivalentTo"} xref: ICD9:041.85 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D004894 {source="MONDO:equivalentTo", source="DOID:4131"} xref: SCTID:111797001 {source="DOID:4131"} @@ -49256,6 +49688,7 @@ synonym: "echolalia" EXACT [MONDO:ambiguous] synonym: "echolalia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:4188 {source="MONDO:equivalentTo"} xref: HP:0010529 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:928818606 {source="MONDO:equivalentTo"} xref: MESH:D004454 {source="DOID:4188", source="MONDO:equivalentTo"} xref: NCIT:C97166 {source="DOID:4188", source="MONDO:otherHierarchy"} xref: SCTID:64712007 {source="DOID:4188"} @@ -49271,6 +49704,7 @@ synonym: "mutism" EXACT [MONDO:ambiguous] synonym: "mutism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:4189 {source="MONDO:equivalentTo"} xref: HP:0002300 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:1275861519 {source="MONDO:equivalentTo"} xref: MESH:D009155 {source="DOID:4189", source="MONDO:equivalentTo"} xref: SCTID:267771000 {source="DOID:4189"} xref: SCTID:88052002 {source="DOID:4189"} @@ -49620,6 +50054,7 @@ synonym: "clear cell meningioma" EXACT [DOID:4210] synonym: "clear cell meningioma (morphologic abnormality)" EXACT [DOID:4210] xref: DOID:4210 {source="MONDO:equivalentTo"} xref: EFO:1000180 {source="MONDO:equivalentTo"} +xref: icd11.foundation:2005741559 {source="MONDO:equivalentTo"} xref: ICDO:9538/1 {source="NCIT:C4722"} xref: MESH:D008579 {source="DOID:4210"} xref: NCIT:C4722 {source="DOID:4210", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -49691,6 +50126,7 @@ name: pyoderma def: "Any skin disease that is pyegenic." [Wikipedia:Pyoderma] xref: DOID:4223 {source="MONDO:equivalentTo"} xref: ICD10CM:L08.0 {source="DOID:4223", source="MONDO:equivalentTo"} +xref: icd11.foundation:1991248382 {source="MONDO:equivalentTo"} xref: ICD9:686.0 {source="DOID:4223", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:686.00 {source="DOID:4223", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:686.09 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -49798,6 +50234,7 @@ name: spindle cell sarcoma def: "A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas." [NCIT:C27005] synonym: "spindle cell sarcoma" EXACT [NCIT:C27005] xref: DOID:4235 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1572128948 {source="MONDO:equivalentTo"} xref: ICDO:8801/3 {source="NCIT:C27005"} xref: MESH:D012509 {source="DOID:4235"} xref: NCIT:C27005 {source="DOID:4235", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -49883,6 +50320,7 @@ id: MONDO:0002931 name: conjunctivochalasis xref: DOID:4250 {source="MONDO:equivalentTo"} xref: ICD10CM:H11.82 {source="DOID:4250"} +xref: icd11.foundation:870876723 {source="MONDO:equivalentTo"} xref: ICD9:372.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:4250"} xref: SCTID:408663001 {source="MONDO:equivalentTo", source="DOID:4250"} xref: UMLS:C0878693 {source="MONDO:equivalentTo", source="DOID:4250"} @@ -49900,6 +50338,7 @@ name: osteosclerosis def: "Abnormally high bone density." [NCIT:C41236] xref: DOID:4254 {source="MONDO:equivalentTo"} xref: ICD10CM:Q78.2 {source="DOID:4254"} +xref: icd11.foundation:2061303143 {source="MONDO:equivalentTo"} xref: MESH:D010026 {source="DOID:4254", source="MONDO:equivalentTo"} xref: NCIT:C41236 {source="DOID:4254", source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="MONDO:exact-label-match"} xref: SCTID:49347007 {source="DOID:4254", source="MONDO:equivalentTo"} @@ -50306,6 +50745,7 @@ synonym: "nerve root disorder, NOS" RELATED EXCLUDE [DOID:4306] xref: DOID:4306 {source="MONDO:equivalentTo"} xref: ICD10CM:M54.1 {source="MONDO:equivalentTo", source="DOID:4306"} xref: ICD10CM:M54.10 {source="DOID:4306"} +xref: icd11.foundation:1802542189 {source="MONDO:equivalentTo"} xref: MESH:D011843 {source="MONDO:equivalentTo", source="DOID:4306"} xref: SCTID:394640000 {source="DOID:4306"} xref: SCTID:72274001 {source="MONDO:equivalentTo", source="DOID:4306"} @@ -50332,6 +50772,7 @@ is_a: MONDO:0006915 {source="DOID:4307", source="MESH:D011128"} ! polyradiculone id: MONDO:0002961 name: large cell acanthoma xref: DOID:4321 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1165679362 {source="MONDO:equivalentTo"} xref: NCIT:C27518 {source="DOID:4321", source="MONDO:equivalentTo"} xref: UMLS:C1334362 {source="DOID:4321", source="MONDO:equivalentTo", source="NCIT:C27518"} is_a: MONDO:0002093 {source="DOID:4321", source="NCIT:C27518"} ! acanthoma @@ -50439,6 +50880,7 @@ name: lymphocele def: "A cystic lesion containing lymph. It usually results from injury, gynecologic surgery, or urologic surgery." [NCIT:P378] synonym: "lymph cyst" EXACT [DOID:4347] xref: DOID:4347 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1806199285 {source="MONDO:equivalentTo"} xref: ICD9:457.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D008210 {source="DOID:4347", source="MONDO:equivalentTo"} xref: NCIT:C78442 {source="DOID:4347", source="MONDO:otherHierarchy"} @@ -50518,6 +50960,7 @@ synonym: "melanoma, amelanotic, malignant" EXACT [NCIT:C3802] synonym: "melanomas, amelanotic" RELATED [MESH:D018328] xref: DOID:4359 {source="MONDO:equivalentTo"} xref: EFO:1001937 {source="MONDO:equivalentTo"} +xref: icd11.foundation:148012051 {source="MONDO:equivalentTo"} xref: ICDO:8730/3 {source="NCIT:C3802"} xref: MESH:D018328 {source="MONDO:equivalentTo", source="DOID:4359"} xref: NCIT:C3802 {source="MONDO:equivalentTo", source="DOID:4359", source="MONDO:exact-label-match"} @@ -50554,6 +50997,7 @@ synonym: "epithelioid cell melanoma" EXACT [NCIT:C4236] synonym: "epithelioid cell melanoma (morphologic abnormality)" EXACT [DOID:4360] synonym: "epithelioid melanoma" EXACT [DOID:4360, NCIT:C4236] xref: DOID:4360 {source="MONDO:equivalentTo"} +xref: icd11.foundation:160923565 {source="MONDO:equivalentTo"} xref: ICDO:8771/3 {source="NCIT:C4236"} xref: NCIT:C4236 {source="MONDO:equivalentTo", source="DOID:4360"} xref: SCTID:37138001 {source="DOID:4360"} @@ -50857,6 +51301,7 @@ synonym: "fibroxanthoma" EXACT [DOID:4415] synonym: "fibroxanthoma NOS (morphologic abnormality)" EXACT [DOID:4415] synonym: "histiocytoma, fibrous, benign" EXACT [NCIT:C3739] xref: DOID:4415 {source="MONDO:equivalentTo"} +xref: icd11.foundation:737761460 {source="MONDO:equivalentTo"} xref: ICDO:8830/0 {source="NCIT:C3739"} xref: MESH:D018219 {source="DOID:4415", source="MONDO:equivalentTo"} xref: NCIT:C3739 {source="DOID:4415", source="MONDO:equivalentTo"} @@ -51111,6 +51556,7 @@ synonym: "dysgerminoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "dysgerminoma, malignant" EXACT [NCIT:C2996] xref: DOID:4441 {source="MONDO:equivalentTo"} xref: HP:0100621 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:817547820 {source="MONDO:equivalentTo"} xref: ICDO:9060/3 {source="NCIT:C2996"} xref: MESH:D004407 {source="DOID:4441", source="MONDO:equivalentTo"} xref: NCIT:C2996 {source="DOID:4441", source="MONDO:equivalentObsolete"} @@ -51240,6 +51686,7 @@ synonym: "primary hyperaldosteronism" RELATED [DOID:446] xref: DOID:446 {source="MONDO:equivalentTo"} xref: ICD10CM:E26 {source="DOID:446", source="MONDO:equivalentTo"} xref: ICD10CM:E26.9 {source="DOID:446"} +xref: icd11.foundation:1937534076 {source="MONDO:equivalentTo"} xref: ICD9:255.1 {source="DOID:446", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:255.10 {source="DOID:446", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D006929 {source="DOID:446", source="MONDO:equivalentTo"} @@ -51765,6 +52212,7 @@ synonym: "tumors, mucoepidermoid" RELATED [MESH:D018298] xref: DOID:163 {source="MONDO:equivalentObsolete", source="EFO:1001049"} xref: DOID:4531 {source="MONDO:equivalentTo"} xref: EFO:1001049 {source="MONDO:equivalentTo"} +xref: icd11.foundation:287052516 {source="MONDO:equivalentTo"} xref: ICDO:8430/1 {source="NCIT:C3772"} xref: ICDO:8430/3 {source="NCIT:C3772"} xref: MESH:D018277 {source="DOID:4531", source="MONDO:equivalentTo"} @@ -51833,6 +52281,7 @@ name: retrograde amnesia def: "The loss of access to memories that were previously encoded; this disorder is most commonly preceded by trauma, including physical brain injury, stroke, or seizure, but may also be psychogenic in origin. Memory loss may be temporary or permanent, but the ability to encode new memories or skills is not generally affected." [NCIT:P378] xref: DOID:4543 {source="MONDO:equivalentTo"} xref: ICD10CM:R41.2 {source="DOID:4543", source="MONDO:equivalentTo"} +xref: icd11.foundation:1405777748 {source="MONDO:equivalentTo"} xref: MESH:D000648 {source="DOID:4543", source="MONDO:equivalentTo"} xref: NCIT:C34372 {source="DOID:4543", source="MONDO:otherHierarchy"} xref: SCTID:158178004 {source="DOID:4543"} @@ -52103,6 +52552,7 @@ synonym: "secretory meningioma" EXACT [DOID:4588, NCIT:C4718] synonym: "secretory meningioma (morphologic abnormality)" EXACT [DOID:4588] xref: DOID:4588 {source="MONDO:equivalentTo"} xref: EFO:1000522 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1566460631 {source="MONDO:equivalentTo"} xref: MESH:D008579 {source="DOID:4588"} xref: NCIT:C4718 {source="DOID:4588", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:19453003 {source="DOID:4588"} @@ -52121,6 +52571,7 @@ synonym: "lymphoplasmocyte-rich meningioma" EXACT [DOID:4591] synonym: "lymphoplasmocyte-rich meningioma (morphologic abnormality)" EXACT [DOID:4591] xref: DOID:4591 {source="MONDO:equivalentTo"} xref: EFO:1000342 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1667076111 {source="MONDO:equivalentTo"} xref: NCIT:C4720 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4591"} xref: SCTID:19453003 {source="DOID:4591"} xref: SCTID:253083007 {source="DOID:4591"} @@ -52157,6 +52608,7 @@ synonym: "microcystic meningioma" EXACT [DOID:4594, NCIT:C4721] synonym: "microcystic meningioma (morphologic abnormality)" EXACT [DOID:4594] xref: DOID:4594 {source="MONDO:equivalentTo"} xref: EFO:1000376 {source="MONDO:equivalentTo"} +xref: icd11.foundation:769450330 {source="MONDO:equivalentTo"} xref: MESH:D008579 {source="DOID:4594"} xref: NCIT:C4721 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4594"} xref: SCTID:19453003 {source="DOID:4594"} @@ -52387,6 +52839,7 @@ name: suppurative lymphadenitis def: "A form of lymphadenitis that is characterized by formation of pus; it is most often caused by staphylococcal or streptococcal bacteria." [NCIT:P378] synonym: "suppurative lymphadenopathy" EXACT [DOID:4639] xref: DOID:4639 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1183198544 {source="MONDO:equivalentTo"} xref: ICD9:457.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C27135 {source="MONDO:equivalentTo", source="DOID:4639"} xref: SCTID:48573006 {source="MONDO:equivalentTo", source="DOID:4639"} @@ -52560,6 +53013,7 @@ id: MONDO:0003082 name: filamentary keratitis xref: DOID:4664 {source="MONDO:equivalentTo"} xref: ICD10CM:H16.12 {source="DOID:4664"} +xref: icd11.foundation:942510664 {source="MONDO:equivalentTo"} xref: ICD9:370.23 {source="DOID:4664", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:51286002 {source="DOID:4664", source="MONDO:equivalentTo"} xref: UMLS:C0155077 {source="DOID:4664", source="MONDO:equivalentTo"} @@ -53310,6 +53764,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare xref: DOID:4751 {source="MONDO:equivalentTo"} xref: ICD10CM:G23.2 {source="DOID:4751", source="MONDO:equivalentTo"} +xref: icd11.foundation:195535779 {source="MONDO:equivalentTo"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D020955 {source="DOID:4751", source="MONDO:equivalentTo"} xref: NCIT:C125695 {source="MONDO:equivalentTo"} @@ -53443,6 +53898,7 @@ def: "A solid, unencapsulated tumor of the kidney composed of spindle mesenchyma synonym: "mesoblastic nephroma" EXACT [DOID:4772, NCIT:C3731] synonym: "mesoblastic nephroma (morphologic abnormality)" EXACT [DOID:4772] xref: DOID:4772 {source="MONDO:equivalentObsolete"} +xref: icd11.foundation:1584772111 {source="MONDO:equivalentTo"} xref: ICD9:236.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D018201 {source="DOID:4772", source="MONDO:equivalentTo"} xref: SCTID:11793003 {source="DOID:4772"} @@ -53639,6 +54095,8 @@ synonym: "cutaneous angiokeratoma" EXACT [DOID:479, NCIT:C4488] synonym: "skin angiokeratoma" EXACT [DOID:479] xref: CSP:2007-0683 {source="DOID:479"} xref: DOID:479 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1286334137 {source="MONDO:equivalentTo"} +xref: icd11.foundation:533651286 {source="MONDO:equivalentTo"} xref: MESH:D000794 {source="DOID:479", source="MONDO:equivalentTo"} xref: NCIT:C2874 {source="DOID:479", source="MONDO:equivalentTo"} xref: NCIT:C4488 {source="DOID:479", source="MONDO:equivalentTo"} @@ -53664,6 +54122,7 @@ synonym: "medulloepithelioma of the central nervous system" EXACT [MONDO:0016716 synonym: "medulloepithelioma, central nervous system" EXACT [DOID:4790, NCIT:C4327] xref: DOID:4790 {source="MONDO:equivalentTo"} xref: GARD:20721 {source="Orphanet:251883"} +xref: icd11.foundation:1078680756 {source="MONDO:equivalentTo"} xref: MESH:D018242 {source="DOID:4790"} xref: NCIT:C4327 {source="MONDO:equivalentTo", source="DOID:4790"} xref: NCIT:C66808 {source="DOID:4790"} @@ -54061,6 +54520,7 @@ subset: inferred_rare subset: rare synonym: "gliofibroma (morphologic abnormality)" EXACT [DOID:4856] xref: DOID:4856 {source="MONDO:equivalentTo"} +xref: icd11.foundation:748282598 {source="MONDO:equivalentTo"} xref: ICDO:9442/1 {source="NCIT:C5419"} xref: NCIT:C5419 {source="MONDO:equivalentTo", source="DOID:4856", source="MONDO:exact-label-match"} xref: SCTID:128909006 {source="DOID:4856"} @@ -54093,6 +54553,7 @@ intersection_of: disease_has_location UBERON:0001905 ! pineal body id: MONDO:0003172 name: glomeruloid hemangioma xref: DOID:486 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1420488830 {source="MONDO:equivalentTo"} xref: NCIT:C27505 {source="MONDO:equivalentTo", source="DOID:486"} xref: SCTID:403976007 {source="MONDO:equivalentTo", source="DOID:486"} xref: UMLS:C1304511 {source="MONDO:equivalentTo", source="NCIT:C27505", source="DOID:486"} @@ -54540,6 +55001,7 @@ synonym: "granular cell adenocarcinoma" EXACT [DOID:4903, NCIT:C3681] synonym: "granular cell carcinoma" EXACT [NCIT:C3681] synonym: "granular cell carcinoma (morphologic abnormality)" EXACT [DOID:4903] xref: DOID:4903 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1679002454 {source="MONDO:equivalentTo"} xref: ICDO:8320/3 {source="NCIT:C3681"} xref: MESH:D000230 {source="DOID:4903"} xref: NCIT:C3681 {source="NCIT:C3681", source="MONDO:equivalentTo", source="DOID:4903"} @@ -54668,6 +55130,7 @@ def: "An adenocarcinoma characterized by the presence of a villous architectural synonym: "villous adenocarcinoma" EXACT [NCIT:C4142] synonym: "villous adenocarcinoma (morphologic abnormality)" EXACT [DOID:4917] xref: DOID:4917 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1524427760 {source="MONDO:equivalentTo"} xref: ICDO:8262/3 {source="NCIT:C4142"} xref: NCIT:C4142 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4917"} xref: SCTID:28558000 {source="DOID:4917"} @@ -54790,6 +55253,7 @@ synonym: "peripheral cholangiocarcinoma" EXACT [DOID:4928, NCIT:C35417] xref: DOID:4928 {source="MONDO:equivalentTo"} xref: EFO:1001961 {source="MONDO:equivalentTo"} xref: ICD10CM:C22.1 {source="DOID:4928"} +xref: icd11.foundation:1253728223 {source="MONDO:equivalentTo"} xref: MESH:D018281 {source="DOID:4928"} xref: NCIT:C35417 {source="MONDO:equivalentTo", source="DOID:4928"} xref: ONCOTREE:IHCH {source="MONDO:equivalentTo"} @@ -54854,6 +55318,7 @@ synonym: "apocrine gland carcinoma" EXACT [DOID:4933, NCIT:C4169] synonym: "carcinoma of apocrine gland" EXACT [NCIT:C4169] synonym: "carcinoma of the apocrine gland" EXACT [DOID:4933, NCIT:C5575] xref: DOID:4933 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1916758917 {source="MONDO:equivalentTo"} xref: ICDO:8401/3 {source="NCIT:C4169"} xref: NCIT:C4169 {source="MONDO:equivalentTo"} xref: SCTID:57141000 {source="DOID:4933"} @@ -55102,6 +55567,7 @@ synonym: "prosopagnosia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:4970 {source="MONDO:equivalentTo"} xref: HP:0010528 {source="MONDO:otherHierarchy"} xref: ICD10CM:R48.3 {source="DOID:4970"} +xref: icd11.foundation:858616900 {source="MONDO:equivalentTo"} xref: MESH:D020238 {source="DOID:4970", source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C85031 {source="DOID:4970", source="MONDO:equivalentTo"} xref: SCTID:18358003 {source="DOID:4970"} @@ -55140,6 +55606,7 @@ synonym: "non-paralytic aseptic meningitis" NARROW [DOID:4986] synonym: "nonparalytic poliomyelitis" EXACT [DOID:4986] xref: DOID:4986 {source="MONDO:equivalentTo"} xref: ICD10CM:A80.4 {source="MONDO:equivalentTo", source="DOID:4986"} +xref: icd11.foundation:1066160874 {source="MONDO:equivalentTo"} xref: ICD9:045.2 {source="DOID:4986"} xref: ICD9:045.20 {source="MONDO:equivalentTo", source="DOID:4986", source="MONDO:i2s"} xref: ICD9:045.22 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -55244,6 +55711,7 @@ def: "An adenomyoma characterized by the presence of marked glandular architectu synonym: "atypical polypoid adenomyoma" EXACT [DOID:4993, NCIT:C6895] synonym: "atypical polypoid adenomyoma (morphologic abnormality)" EXACT [DOID:4993] xref: DOID:4993 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1153202251 {source="MONDO:equivalentTo"} xref: NCIT:C6895 {source="DOID:4993", source="MONDO:equivalentTo"} xref: SCTID:388987001 {source="DOID:4993"} xref: SCTID:40293003 {source="DOID:4993"} @@ -55751,6 +56219,7 @@ def: "A hemangioma characterized by the presence of hobnail endothelial cells." synonym: "hobnail hemangioma" EXACT [NCIT:C27506] synonym: "Targetoid Hemosiderotic hemangioma" EXACT [NCIT:C27506] xref: DOID:505 {source="MONDO:equivalentTo"} +xref: icd11.foundation:966054033 {source="MONDO:equivalentTo"} xref: NCIT:C27506 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:254790003 {source="MONDO:equivalentTo"} xref: UMLS:C0346076 {source="MONDO:equivalentTo", source="NCIT:C27506"} @@ -55816,6 +56285,7 @@ synonym: "papillary meningioma" RELATED [DOID:5058, NCIT:C3904] synonym: "papillary meningioma (morphologic abnormality)" EXACT [DOID:5058] synonym: "rhabdoid meningioma" EXACT [DOID:5058, NCIT:C6909] xref: DOID:5058 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1178041789 {source="MONDO:equivalentTo"} xref: NCIT:C6909 {source="DOID:5058", source="MONDO:equivalentTo"} xref: ONCOTREE:RHM {source="MONDO:equivalentTo"} xref: SCTID:399469000 {source="DOID:5058"} @@ -55873,6 +56343,7 @@ synonym: "skin basosquamous cell carcinoma" EXACT [NCIT:C2922] synonym: "skin mixed basal and squamous cell carcinoma" EXACT [NCIT:C2922] xref: DOID:5063 {source="MONDO:equivalentTo"} xref: EFO:1000529 {source="MONDO:equivalentTo"} +xref: icd11.foundation:852831538 {source="MONDO:equivalentTo"} xref: ICDO:8094/3 {source="NCIT:C2922"} xref: MESH:D002281 {source="MONDO:equivalentTo", source="DOID:5063"} xref: NCIT:C2922 {source="EFO:1000529", source="MONDO:equivalentTo", source="DOID:5063"} @@ -55898,6 +56369,7 @@ synonym: "disorders, adjustment" RELATED [MESH:D000275] synonym: "disorders, reactive" RELATED [MESH:D000275] xref: DOID:507 {source="MONDO:equivalentTo"} xref: ICD10CM:F90-98 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} +xref: icd11.foundation:264310751 {source="MONDO:equivalentTo"} xref: ICD9:309 {source="DOID:507"} xref: ICD9:309.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:309.9 {source="DOID:507", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -56341,6 +56813,7 @@ synonym: "bizarre leiomyoma" EXACT [NCIT:C4257] synonym: "pleomorphic leiomyoma" EXACT [DOID:5127, NCIT:C4257, NCIT:C6513] synonym: "Symplastic leiomyoma" EXACT [DOID:5127] xref: DOID:5127 {source="MONDO:equivalentTo"} +xref: icd11.foundation:615907984 {source="MONDO:equivalentTo"} xref: ICDO:8893/0 {source="NCIT:C4257"} xref: NCIT:C4257 {source="DOID:5127", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:48897006 {source="DOID:5127"} @@ -56464,6 +56937,7 @@ def: "A morphologic variant of classic leiomyoma characterized by a dense cellul synonym: "cellular leiomyoma" EXACT [NCIT:C4256] synonym: "cellular leiomyoma (morphologic abnormality)" EXACT [DOID:5139] xref: DOID:5139 {source="MONDO:equivalentTo"} +xref: icd11.foundation:898433742 {source="MONDO:equivalentTo"} xref: ICDO:8892/0 {source="NCIT:C4256"} xref: NCIT:C4256 {source="DOID:5139", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:90955001 {source="DOID:5139"} @@ -56611,6 +57085,7 @@ synonym: "plexiform neurofibroma (disease)" EXACT [https://orcid.org/0000-0002-6 xref: DOID:5151 {source="MONDO:equivalentTo"} xref: EFO:0000658 {source="MONDO:equivalentTo"} xref: HP:0009732 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:597104444 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9550/0 {source="NCIT:C3797"} xref: MESH:D018318 {source="MONDO:equivalentTo", source="DOID:5151"} @@ -57309,6 +57784,7 @@ xref: EFO:1001005 {source="MONDO:equivalentTo"} xref: GARD:10175 {source="Orphanet:99978"} xref: ICD10CM:C24.0 {source="Orphanet:99978", source="Orphanet:99978/ntbt"} xref: icd11.foundation:1571104786 {source="MONDO:equivalentTo", source="Orphanet:99978"} +xref: icd11.foundation:1571104786 {source="MONDO:equivalentTo"} xref: MESH:D018285 {source="MONDO:equivalentTo", source="Orphanet:99978", source="EFO:1001005", source="DOID:4927", source="Orphanet:99978/e"} xref: NCIT:C36077 {source="DOID:5246", source="MONDO:equivalentTo", source="DOID:4927"} xref: Orphanet:99978 {source="GARD:0010175", source="MONDO:equivalentTo"} @@ -57501,6 +57977,7 @@ subset: inferred_rare subset: rare synonym: "epithelioid leiomyosarcoma" EXACT [NCIT:C3700] xref: DOID:5264 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1861404115 {source="MONDO:equivalentTo"} xref: ICDO:8891/3 {source="NCIT:C3700"} xref: MESH:D007890 {source="DOID:5264"} xref: NCIT:C3700 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5264"} @@ -57552,6 +58029,7 @@ subset: rare synonym: "myxoid leiomyosarcoma" EXACT [DOID:5268, NCIT:C3701] synonym: "myxoid leiomyosarcoma (morphologic abnormality)" EXACT [DOID:5268] xref: DOID:5268 {source="MONDO:equivalentTo"} +xref: icd11.foundation:247650242 {source="MONDO:equivalentTo"} xref: ICDO:8896/3 {source="NCIT:C3701"} xref: MESH:D007890 {source="DOID:5268"} xref: NCIT:C3701 {source="DOID:5268", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -57633,6 +58111,7 @@ synonym: "skin leiomyosarcoma" EXACT [NCIT:C4484] synonym: "zone of skin leiomyosarcoma" EXACT [MONDO:patterns/location] xref: DOID:5273 {source="MONDO:equivalentTo"} xref: HP:0006755 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:1653448241 {source="MONDO:equivalentTo"} xref: NCIT:C4484 {source="MONDO:equivalentTo", source="DOID:5273"} xref: SCTID:254771006 {source="MONDO:equivalentTo", source="DOID:5273"} xref: UMLS:C0346067 {source="NCIT:C4484", source="MONDO:equivalentTo", source="DOID:5273"} @@ -58106,6 +58585,7 @@ def: "A malignant neoplasm which occurs mostly in the major salivary glands (mos synonym: "EMYOCA" RELATED ABBREVIATION [ONCOTREE:EMYOCA] synonym: "epithelial-myoepithelial carcinoma" EXACT [NCIT:C4199] xref: DOID:5309 {source="MONDO:equivalentTo"} +xref: icd11.foundation:709894392 {source="MONDO:equivalentTo"} xref: ICDO:8562/3 {source="NCIT:C4199"} xref: NCIT:C4199 {source="MONDO:equivalentTo", source="DOID:5309", source="MONDO:exact-label-match"} xref: ONCOTREE:EMYOCA {source="MONDO:equivalentTo"} @@ -58262,6 +58742,7 @@ synonym: "polyp of gum" EXACT [DOID:5337, NCIT:C3948] synonym: "polyp of the gingiva" EXACT [NCIT:C3948] synonym: "polyp of the gum" EXACT [NCIT:C3948] xref: DOID:5337 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1849228776 {source="MONDO:equivalentTo"} xref: ICD9:523.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D005882 {source="DOID:5337"} xref: NCIT:C3948 {source="DOID:5337", source="MONDO:equivalentTo"} @@ -58291,6 +58772,7 @@ name: anterograde amnesia def: "Loss of the ability to form new memories beyond a certain point in time. This condition may be organic or psychogenic in origin. Organically induced anterograde amnesia may follow craniocerebral trauma; seizures; anoxia; and other conditions which adversely affect neural structures associated with memory formation (e.g., the hippocampus; fornix (brain); mammillary bodies; and anterior thalamic nuclei). (From Memory 1997 Jan-Mar;5(1-2):49-71)" [MESH:D020324] xref: DOID:5340 {source="MONDO:equivalentTo"} xref: ICD10CM:R41.1 {source="MONDO:equivalentTo", source="DOID:5340"} +xref: icd11.foundation:661071789 {source="MONDO:equivalentTo"} xref: MESH:D020324 {source="MONDO:equivalentTo", source="DOID:5340"} xref: SCTID:206789002 {source="DOID:5340"} xref: SCTID:88822006 {source="DOID:5340"} @@ -58748,6 +59230,7 @@ id: MONDO:0003417 name: internuclear ophthalmoplegia xref: DOID:538 {source="MONDO:equivalentTo"} xref: ICD10CM:H51.2 {source="DOID:538", source="MONDO:equivalentTo"} +xref: icd11.foundation:377040542 {source="MONDO:equivalentTo"} xref: ICD9:378.86 {source="DOID:538", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D015835 {source="DOID:538"} xref: SCTID:49823009 {source="DOID:538", source="MONDO:equivalentTo"} @@ -58787,6 +59270,7 @@ synonym: "bile duct mucinous cystic neoplasm" EXACT [NCIT:C4129] synonym: "cystadenoma of bile duct" EXACT [NCIT:C4129] synonym: "cystadenoma of the bile duct" EXACT [DOID:5384, NCIT:C4129] xref: DOID:5384 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1869370058 {source="MONDO:equivalentTo"} xref: ICDO:8161/0 {source="NCIT:C4129"} xref: NCIT:C4129 {source="MONDO:equivalentTo", source="DOID:5384"} xref: SCTID:83025009 {source="DOID:5384"} @@ -58802,6 +59286,7 @@ name: mixed cell adenoma def: "An adenoma characterized by the presence of a mixed epithelial cell population." [NCIT:C4157] synonym: "mixed cell adenoma" EXACT [NCIT:C4157] xref: DOID:5385 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1596227184 {source="MONDO:equivalentTo"} xref: ICDO:8323/0 {source="NCIT:C4157"} xref: NCIT:C4157 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5385"} xref: SCTID:89773001 {source="DOID:5385"} @@ -58873,6 +59358,7 @@ def: "Weakness or paralysis of at least one of the muscles controlling the movem synonym: "oculomotor paralysis" RELATED [DOID:539] synonym: "total ophthalmoplegia" EXACT [DOID:539] xref: DOID:539 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1848588735 {source="MONDO:equivalentTo"} xref: ICD9:378.56 {source="MONDO:equivalentTo", source="DOID:539", source="MONDO:i2s"} xref: MESH:D009886 {source="MONDO:equivalentTo", source="DOID:539"} xref: NCIT:C79697 {source="MONDO:otherHierarchy", source="DOID:539"} @@ -58893,6 +59379,7 @@ synonym: "adenoma, clear cell, benign" EXACT [NCIT:C4151] synonym: "clear cell adenoma" EXACT [NCIT:C4151] synonym: "clear cell adenoma (morphologic abnormality)" EXACT [DOID:5390] xref: DOID:5390 {source="MONDO:equivalentTo"} +xref: icd11.foundation:343201867 {source="MONDO:equivalentTo"} xref: ICDO:8310/0 {source="NCIT:C4151"} xref: NCIT:C4151 {source="MONDO:equivalentTo", source="DOID:5390", source="MONDO:exact-label-match"} xref: SCTID:1752006 {source="DOID:5390"} @@ -59041,6 +59528,7 @@ synonym: "adenolipoma, benign" EXACT [NCIT:C4159] synonym: "lipoadenoma" EXACT [NCIT:C4159] synonym: "lipoadenoma (morphologic abnormality)" EXACT [DOID:5398] xref: DOID:5398 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1315397128 {source="MONDO:equivalentTo"} xref: ICDO:8324/0 {source="NCIT:C4159"} xref: NCIT:C4159 {source="DOID:5398", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:22024005 {source="DOID:5398"} @@ -59078,6 +59566,7 @@ def: "A rare parathyroid gland adenoma composed of neoplastic cells with abundan synonym: "parathyroid gland water-clear cell adenoma" EXACT [NCIT:C4155] synonym: "water-clear cell adenoma (morphologic abnormality)" EXACT [DOID:5401] xref: DOID:5401 {source="MONDO:equivalentTo"} +xref: icd11.foundation:828144921 {source="MONDO:equivalentTo"} xref: ICDO:8322/0 {source="NCIT:C4155"} xref: NCIT:C4155 {source="DOID:5401", source="MONDO:equivalentTo"} xref: SCTID:26638004 {source="DOID:5401"} @@ -59105,6 +59594,7 @@ def: "A benign epithelial neoplasm characterized by a microcystic pattern. The c synonym: "microcystic adenoma" EXACT [DOID:5403, NCIT:C3685] synonym: "microcystic adenoma (morphologic abnormality)" EXACT [DOID:5403] xref: DOID:5403 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1048300073 {source="MONDO:equivalentTo"} xref: ICDO:8202/0 {source="NCIT:C3685"} xref: MESH:D000236 {source="DOID:5403"} xref: NCIT:C3685 {source="DOID:5403", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -59296,6 +59786,7 @@ name: papillary hidradenoma def: "A benign neoplasm arising from the sweat glands. It presents as a slow growing cystic nodular lesion most often in the skin of the vulva and the perianal region. It is characterized by the presence of cystic and large papillary structures. The papillary structures contain connective tissue and are covered by two layers of epithelium. Complete excision is curative." [NCIT:C4171] synonym: "hidradenoma papilliferum" EXACT [NCIT:C4171] xref: DOID:5439 {source="MONDO:equivalentTo"} +xref: icd11.foundation:909360574 {source="MONDO:equivalentTo"} xref: ICDO:8405/0 {source="NCIT:C4171"} xref: NCIT:C4171 {source="MONDO:equivalentTo", source="DOID:5439", source="MONDO:exact-label-match"} xref: SCTID:134157002 {source="DOID:5439"} @@ -59312,6 +59803,7 @@ synonym: "clear cell hidradenoma" EXACT [DOID:5443, NCIT:C7567] synonym: "clear cell hidradenoma (morphologic abnormality)" EXACT [DOID:5443] synonym: "clear cell myoepithelioma" EXACT [DOID:5443] xref: DOID:5443 {source="MONDO:equivalentTo"} +xref: icd11.foundation:309811648 {source="MONDO:equivalentTo"} xref: NCIT:C7567 {source="DOID:5443", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:254719003 {source="DOID:5443"} xref: SCTID:400099008 {source="DOID:5443", source="MONDO:relatedTo"} @@ -59356,6 +59848,7 @@ subset: rare synonym: "eccrine papillary adenoma of skin" EXACT [DOID:5446] synonym: "Papillary eccrine adenoma" EXACT [NCIT:C4173] xref: DOID:5446 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1491865253 {source="MONDO:equivalentTo"} xref: ICDO:8408/0 {source="NCIT:C4173"} xref: NCIT:C4173 {source="DOID:5446", source="MONDO:equivalentTo"} xref: SCTID:10060008 {source="DOID:5446"} @@ -59529,6 +60022,7 @@ def: "A benign neoplasm characterized by the presence of glandular structures wh synonym: "clear cell adenofibroma" EXACT [DOID:5477, NCIT:C8987] synonym: "clear cell adenofibroma (morphologic abnormality)" EXACT [DOID:5477] xref: DOID:5477 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1640127544 {source="MONDO:equivalentTo"} xref: ICDO:8313/0 {source="NCIT:C8987"} xref: MESH:D062625 {source="DOID:5477", source="MONDO:directSiblingOf"} xref: NCIT:C8985 {source="DOID:5477", source="MONDO:directSiblingOf"} @@ -59562,6 +60056,7 @@ name: papillary adenofibroma def: "A biphasic polypoid neoplasm characterized by the presence of papillary projections that are lined by epithelial cells and fibrotic stroma." [NCIT:C8986] synonym: "papillary adenofibroma" EXACT [DOID:5479] xref: DOID:5479 {source="MONDO:equivalentTo"} +xref: icd11.foundation:275446520 {source="MONDO:equivalentTo"} xref: NCIT:C8986 {source="DOID:5479", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:2962009 {source="DOID:5479"} xref: UMLS:C1377850 {source="DOID:5479", source="MONDO:equivalentTo", source="NCIT:C8986"} @@ -59688,6 +60183,7 @@ def: "An ependymoma which shows conspicuous cellularity without a significant in subset: inferred_rare subset: rare xref: DOID:5500 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1419974099 {source="MONDO:equivalentTo"} xref: MESH:D004806 {source="DOID:5500"} xref: NCIT:C4713 {source="DOID:5500", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NCIT:C4714 {source="DOID:5500", source="MONDO:directSiblingOf"} @@ -59785,6 +60281,7 @@ subset: inferred_rare subset: rare synonym: "tanycytic ependymoma" EXACT [NCIT:C6903] xref: DOID:5504 {source="MONDO:equivalentTo"} +xref: icd11.foundation:81316964 {source="MONDO:equivalentTo"} xref: NCIT:C6903 {source="DOID:5504", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:397378002 {source="DOID:5504"} xref: SCTID:57706008 {source="DOID:5504"} @@ -59799,6 +60296,7 @@ subset: inferred_rare subset: rare synonym: "papillary ependymoma" EXACT [NCIT:C4319] xref: DOID:5505 {source="MONDO:equivalentTo"} +xref: icd11.foundation:731395788 {source="MONDO:equivalentTo"} xref: ICDO:9393/3 {source="NCIT:C4319"} xref: MESH:D004806 {source="DOID:5505"} xref: NCIT:C4319 {source="MONDO:equivalentTo", source="DOID:5505", source="MONDO:exact-label-match"} @@ -59815,6 +60313,7 @@ subset: inferred_rare subset: rare synonym: "clear cell ependymoma" EXACT [NCIT:C4714] xref: DOID:5507 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1096655771 {source="MONDO:equivalentTo"} xref: NCIT:C4714 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:CCE {source="MONDO:equivalentTo"} xref: UMLS:C1384404 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C4714"} @@ -59908,6 +60407,7 @@ synonym: "ovarian germ cell dysgerminoma" EXACT [NCIT:C8106] synonym: "ovary dysgerminoma (disease)" EXACT [MONDO:patterns/location] xref: DOID:5511 {source="MONDO:equivalentTo"} xref: EFO:1000414 {source="MONDO:equivalentTo"} +xref: icd11.foundation:208782658 {source="MONDO:equivalentTo"} xref: NCIT:C8106 {source="DOID:5511", source="MONDO:equivalentTo", source="EFO:1000414"} xref: ONCOTREE:ODYS {source="MONDO:equivalentTo"} xref: SCTID:254874008 {source="DOID:5511", source="MONDO:equivalentTo"} @@ -59964,6 +60464,7 @@ synonym: "basaloid carcinoma (morphologic abnormality)" BROAD [DOID:5522] synonym: "basaloid squamous cell carcinoma" EXACT [NCIT:C54244] synonym: "basaloid squamous cell carcinoma (morphologic abnormality)" EXACT [DOID:5522] xref: DOID:5522 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1738201981 {source="MONDO:equivalentTo"} xref: ICDO:8083/3 {source="NCIT:C54244"} xref: NCIT:C54244 {source="DOID:5522", source="MONDO:equivalentTo"} xref: SCTID:128634009 {source="DOID:5522"} @@ -60356,6 +60857,7 @@ synonym: "testicular choriocarcinoma" EXACT [DOID:5551, MONDO:0006445, NCIT:C773 synonym: "testis choriocarcinoma (disease)" EXACT [MONDO:patterns/location] xref: DOID:5551 {source="MONDO:equivalentTo"} xref: EFO:1000564 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1972827817 {source="MONDO:equivalentTo"} xref: NCIT:C7733 {source="EFO:1000564", source="MONDO:equivalentTo", source="DOID:5551"} xref: ONCOTREE:TCCA {source="MONDO:equivalentTo"} xref: SCTID:147371000119101 {source="DOID:5551"} @@ -60715,6 +61217,7 @@ synonym: "Volkmann's ischaemic contracture" EXACT OMO:0003005 [] synonym: "Volkmann's ischemic contracture" EXACT [DOID:5587, ICD9CM:958.6, NCIT:C35130] xref: DOID:5587 {source="MONDO:equivalentTo"} xref: ICD10CM:T79.6 {source="DOID:5587"} +xref: icd11.foundation:366740140 {source="MONDO:equivalentTo"} xref: ICD9:958.6 {source="DOID:5587", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D054061 {source="DOID:5587", source="MONDO:equivalentTo"} xref: NCIT:C35130 {source="DOID:5587", source="MONDO:equivalentTo"} @@ -60732,6 +61235,7 @@ def: "Sudden onset pyelonephritis." [NCIT:P378] synonym: "pyelonephritis, acute" EXACT [MONDO:patterns/acute] xref: DOID:559 {source="MONDO:equivalentTo"} xref: ICD10CM:N10 {source="DOID:559", source="MONDO:equivalentTo"} +xref: icd11.foundation:441183088 {source="MONDO:equivalentTo"} xref: ICD9:590.1 {source="DOID:559"} xref: NCIT:C123215 {source="DOID:559", source="MONDO:equivalentTo"} xref: SCTID:155862004 {source="DOID:559"} @@ -60953,6 +61457,7 @@ synonym: "pulp calcifications" EXACT [DOID:5608] synonym: "pulpal calcifications" EXACT [DOID:5608] xref: DOID:5608 {source="MONDO:equivalentTo"} xref: ICD10CM:K04.2 {source="DOID:5608", source="MONDO:directSiblingOf"} +xref: icd11.foundation:1672640309 {source="MONDO:equivalentTo"} xref: MESH:D003784 {source="MONDO:equivalentTo", source="DOID:5608"} xref: SCTID:57602001 {source="MONDO:equivalentTo", source="DOID:5608"} xref: UMLS:C0011401 {source="MONDO:equivalentTo", source="DOID:5608"} @@ -61391,6 +61896,7 @@ synonym: "optic chiasma disease" EXACT [] synonym: "optic chiasma disease or disorder" EXACT [MONDO:patterns/location] xref: DOID:5655 {source="MONDO:equivalentTo"} xref: ICD10CM:H47.4 {source="DOID:5655", source="MONDO:equivalentTo"} +xref: icd11.foundation:927459952 {source="MONDO:equivalentTo"} xref: ICD9:377.5 {source="DOID:5655"} xref: ICD9:377.63 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:194061008 {source="DOID:5655"} @@ -61434,6 +61940,7 @@ def: "A carcinoma characterized by the presence of malignant epithelial cells wi synonym: "lipid-rich carcinoma" EXACT [DOID:5658, NCIT:C4152] synonym: "lipid-rich carcinoma (morphologic abnormality)" EXACT [DOID:5658] xref: DOID:5658 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1853609130 {source="MONDO:equivalentTo"} xref: ICDO:8314/3 {source="NCIT:C4152"} xref: NCIT:C4152 {source="NCIT:C4152", source="DOID:5658", source="MONDO:equivalentTo"} xref: SCTID:189655006 {source="DOID:5658"} @@ -61487,6 +61994,7 @@ def: "A usually aggressive malignant epithelial neoplasm composed of cells with synonym: "pleomorphic carcinoma" EXACT [NCIT:C4094] synonym: "pleomorphic carcinoma (morphologic abnormality)" EXACT [DOID:5662] xref: DOID:5662 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1381572140 {source="MONDO:equivalentTo"} xref: ICDO:8022/3 {source="NCIT:C4094"} xref: NCIT:C4094 {source="DOID:5662", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:16741004 {source="DOID:5662"} @@ -61816,6 +62324,7 @@ subset: rare synonym: "fibroblastic liposarcoma" EXACT [DOID:5698, NCIT:C6509] synonym: "fibroblastic liposarcoma (morphologic abnormality)" EXACT [DOID:5698] xref: DOID:5698 {source="MONDO:equivalentTo"} +xref: icd11.foundation:807312706 {source="MONDO:equivalentTo"} xref: ICDO:8857/3 {source="NCIT:C6509"} xref: NCIT:C6509 {source="DOID:5698", source="MONDO:equivalentTo"} xref: SCTID:128883006 {source="DOID:5698"} @@ -61885,6 +62394,7 @@ subset: rare synonym: "mixed liposarcoma" EXACT [NCIT:C4253] synonym: "mixed liposarcoma (morphologic abnormality)" EXACT [DOID:5703] xref: DOID:5703 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1538738503 {source="MONDO:equivalentTo"} xref: ICDO:8855/3 {source="NCIT:C4253"} xref: NCIT:C4253 {source="MONDO:equivalentTo", source="DOID:5703", source="MONDO:exact-label-match"} xref: SCTID:11073003 {source="DOID:5703"} @@ -62163,6 +62673,7 @@ synonym: "atrophy of optic disk" EXACT [DOID:5723] xref: DOID:5723 {source="MONDO:equivalentTo"} xref: ICD10CM:H47.2 {source="MONDO:equivalentTo", source="DOID:5723"} xref: ICD10CM:H47.20 {source="DOID:5723"} +xref: icd11.foundation:568505454 {source="MONDO:equivalentTo"} xref: ICD9:377.1 {source="DOID:5723"} xref: ICD9:377.10 {source="MONDO:equivalentTo", source="DOID:5723", source="MONDO:i2s"} xref: MESH:D009896 {source="MONDO:equivalentTo", source="DOID:5723"} @@ -62283,6 +62794,7 @@ id: MONDO:0003616 name: salpingitis isthmica nodosa def: "Formation of nodules in the isthmus of the fallopian tube due to fallopian tube diverticulosis. It may cause infertility or ectopic pregnancy." [NCIT:P378] xref: DOID:5730 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1586025352 {source="MONDO:equivalentTo"} xref: NCIT:C40119 {source="DOID:5730", source="MONDO:equivalentTo"} xref: SCTID:36742000 {source="DOID:5730", source="MONDO:equivalentTo"} xref: UMLS:C0269043 {source="NCIT:C40119", source="DOID:5730", source="MONDO:equivalentTo"} @@ -62296,6 +62808,7 @@ def: "Chronic inflammation of the fallopian tube. It usually follows an acute in synonym: "salpingitis, chronic" EXACT [MONDO:patterns/chronic] xref: DOID:5731 {source="MONDO:equivalentTo"} xref: ICD10CM:N70.11 {source="DOID:5731", source="MONDO:equivalentTo"} +xref: icd11.foundation:1932766800 {source="MONDO:equivalentTo"} xref: NCIT:C40118 {source="DOID:5731", source="MONDO:equivalentTo"} xref: SCTID:55551005 {source="DOID:5731", source="MONDO:equivalentTo"} xref: UMLS:C0269041 {source="DOID:5731", source="NCIT:C40118", source="MONDO:equivalentTo"} @@ -62590,6 +63103,7 @@ def: "Inflammation of the endocervix." [NCIT:P378] synonym: "endocervix inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "inflammation of endocervix" EXACT [] xref: DOID:5757 {source="MONDO:equivalentTo"} +xref: icd11.foundation:803236221 {source="MONDO:equivalentTo"} xref: NCIT:C26762 {source="DOID:5757", source="MONDO:equivalentTo"} xref: SCTID:155980007 {source="DOID:5757"} xref: SCTID:198201006 {source="DOID:5757"} @@ -62625,6 +63139,7 @@ comment: Consider obsoleting / use HPO xref: DOID:576 {source="MONDO:equivalentTo"} xref: ICD10CM:R80 {source="MONDO:equivalentTo", source="DOID:576"} xref: ICD10CM:R80.9 {source="DOID:576"} +xref: icd11.foundation:930895737 {source="MONDO:equivalentTo"} xref: ICD9:791.0 {source="DOID:576"} xref: MESH:D011507 {source="MONDO:equivalentTo", source="DOID:576"} xref: NCIT:C38012 {source="MONDO:otherHierarchy", source="DOID:576"} @@ -63004,6 +63519,7 @@ def: "Urolithiasis in which the composition of the stones is predominantly urate synonym: "uric acid nephrolithiasis" EXACT [DOID:580, ICD9CM:274.11] synonym: "uric acid urolithiasis" EXACT [DOID:580] xref: DOID:580 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1011901523 {source="MONDO:equivalentTo"} xref: ICD9:274.11 {source="DOID:580"} xref: ICD9:583.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C123037 {source="MONDO:equivalentTo", source="DOID:580"} @@ -63102,6 +63618,7 @@ synonym: "Grey zone lymphoma" EXACT OMO:0003005 [] synonym: "Hodgkin-like anaplastic large cell lymphoma" EXACT [NCIT:C37869] synonym: "large B-cell lymphoma with Hodgkin features" EXACT [NCIT:C37869] xref: DOID:5822 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1969941281 {source="MONDO:equivalentTo"} xref: ICDO:9596/3 {source="NCIT:C37869"} xref: NCIT:C37869 {source="MONDO:equivalentTo", source="DOID:5822"} xref: UMLS:C1333878 {source="MONDO:equivalentTo", source="DOID:5822", source="NCIT:C37869"} @@ -63452,6 +63969,7 @@ synonym: "periosteal chondrosarcoma" EXACT [DOID:5859, NCIT:C7357] synonym: "periosteum chondrosarcoma (disease)" EXACT [MONDO:patterns/location] xref: DOID:5859 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:5866 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1746852032 {source="MONDO:equivalentTo"} xref: ICDO:9221/3 {source="NCIT:C7357"} xref: NCIT:C7357 {source="MONDO:equivalentTo", source="DOID:5866"} xref: SCTID:26211003 {source="DOID:5866"} @@ -63470,6 +63988,7 @@ subset: rare synonym: "MYCHS" RELATED ABBREVIATION [ONCOTREE:MYCHS] synonym: "myxoid chondrosarcoma" EXACT [NCIT:C4303] xref: DOID:5861 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1138996304 {source="MONDO:equivalentTo"} xref: ICDO:9231/3 {source="NCIT:C4303"} xref: NCIT:C4303 {source="DOID:5861", source="MONDO:equivalentObsolete", source="MONDO:exact-label-match"} xref: ONCOTREE:MYCHS {source="MONDO:equivalentTo"} @@ -63501,6 +64020,7 @@ subset: rare synonym: "clear cell chondrosarcoma" EXACT [DOID:5867, NCIT:C6475] synonym: "clear cell chondrosarcoma (morphologic abnormality)" EXACT [DOID:5867] xref: DOID:5867 {source="MONDO:equivalentTo"} +xref: icd11.foundation:165630779 {source="MONDO:equivalentTo"} xref: ICDO:9242/3 {source="NCIT:C6475"} xref: NCIT:C6475 {source="DOID:5867", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:128775007 {source="DOID:5867"} @@ -63607,6 +64127,7 @@ synonym: "well-differentiated papillary tumor of the mesothelium" EXACT [NCIT:C7 synonym: "well-differentiated papillary tumour of mesothelium" EXACT OMO:0003005 [] synonym: "well-differentiated papillary tumour of the mesothelium" EXACT OMO:0003005 [] xref: DOID:5884 {source="MONDO:equivalentTo"} +xref: icd11.foundation:801757968 {source="MONDO:equivalentTo"} xref: ICDO:9052/1 {source="NCIT:C7635"} xref: NCIT:C7635 {source="DOID:5884", source="MONDO:equivalentTo"} xref: UMLS:C1337012 {source="DOID:5884", source="MONDO:equivalentTo", source="NCIT:C7635"} @@ -63982,6 +64503,7 @@ xref: DOID:593 {source="MONDO:equivalentTo"} xref: EFO:1001872 {source="MONDO:equivalentTo"} xref: ICD10CM:F40.0 {source="MONDO:equivalentTo", source="DOID:593"} xref: ICD10CM:F40.00 {source="DOID:593"} +xref: icd11.foundation:530592394 {source="MONDO:equivalentTo"} xref: MESH:D000379 {source="MONDO:equivalentTo", source="DOID:593"} xref: NCIT:C34362 {source="MONDO:equivalentTo", source="DOID:593"} xref: SCTID:154885006 {source="DOID:593"} @@ -64029,6 +64551,7 @@ replaced_by: MONDO:0017827 id: MONDO:0003712 name: angiokeratoma of mibelli xref: DOID:5948 {source="MONDO:equivalentTo"} +xref: icd11.foundation:989688835 {source="MONDO:equivalentTo"} xref: NCIT:C3927 {source="MONDO:equivalentTo", source="DOID:5948"} xref: SCTID:62727008 {source="MONDO:equivalentTo", source="DOID:5948"} xref: UMLS:C0263640 {source="NCIT:C3927", source="MONDO:equivalentTo", source="DOID:5948"} @@ -64038,6 +64561,7 @@ is_a: MONDO:0003143 {source="DOID:5948", source="NCIT:C3927"} ! angiokeratoma id: MONDO:0003713 name: angiokeratoma circumscriptum xref: DOID:5949 {source="MONDO:equivalentTo"} +xref: icd11.foundation:225334653 {source="MONDO:equivalentTo"} xref: NCIT:C7751 {source="MONDO:equivalentTo", source="DOID:5949"} xref: SCTID:21848000 {source="MONDO:equivalentTo", source="DOID:5949"} xref: UMLS:C0263638 {source="NCIT:C7751", source="MONDO:equivalentTo", source="DOID:5949"} @@ -64894,6 +65418,7 @@ synonym: "severe or complete loss of motor function in the lower extremities and xref: DOID:607 {source="MONDO:equivalentTo"} xref: ICD10CM:G82.2 {source="DOID:607"} xref: ICD10CM:G82.20 {source="DOID:607"} +xref: icd11.foundation:1212533558 {source="MONDO:equivalentTo"} xref: ICD9:344.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:607"} xref: MESH:D010264 {source="MONDO:equivalentTo", source="DOID:607"} xref: NCIT:C50687 {source="MONDO:equivalentTo", source="DOID:607"} @@ -65120,6 +65645,7 @@ synonym: "thalamic neoplasm" RELATED [DOID:6098] synonym: "tumor of thalamus" EXACT [DOID:6098, NCIT:C6221] synonym: "tumour of thalamus" EXACT OMO:0003005 [] xref: DOID:6098 {source="MONDO:equivalentTo"} +xref: icd11.foundation:610018988 {source="MONDO:equivalentTo"} xref: NCIT:C4576 {source="MONDO:equivalentTo", source="DOID:6098"} xref: NCIT:C6221 {source="DOID:6098"} xref: SCTID:188287005 {source="MONDO:equivalentTo", source="DOID:6098"} @@ -65423,6 +65949,7 @@ xref: ICD10CM:J20 {source="DOID:6132"} xref: ICD10CM:J20.9 {source="DOID:6132"} xref: ICD10CM:J40 {source="DOID:6132"} xref: ICD10CM:J42 {source="DOID:6132"} +xref: icd11.foundation:11753425 {source="MONDO:equivalentTo"} xref: ICD9:466.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:6132"} xref: ICD9:490 {source="DOID:6132"} xref: ICD9:491 {source="DOID:6132"} @@ -65488,6 +66015,7 @@ synonym: "lymphopenia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:614 {source="MONDO:equivalentTo"} xref: HP:0001888 {source="MONDO:otherHierarchy"} xref: ICD10CM:D72.810 {source="DOID:614", source="MONDO:equivalentTo"} +xref: icd11.foundation:298296736 {source="MONDO:equivalentTo"} xref: ICD9:288.51 {source="DOID:614", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:288.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D008231 {source="DOID:614", source="MONDO:equivalentTo"} @@ -65838,6 +66366,7 @@ xref: DOID:6195 {source="MONDO:equivalentTo"} xref: HP:0000509 {source="MONDO:otherHierarchy"} xref: ICD10CM:H10 {source="DOID:6195"} xref: ICD10CM:H10.9 {source="DOID:6195"} +xref: icd11.foundation:831696556 {source="MONDO:equivalentTo"} xref: ICD9:372.30 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:6195"} xref: ICD9:372.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D003231 {source="MONDO:equivalentTo", source="DOID:6195"} @@ -68138,6 +68667,7 @@ subset: rare synonym: "angiomatous meningioma (morphologic abnormality)" EXACT [DOID:6548] xref: DOID:6548 {source="MONDO:equivalentTo"} xref: EFO:1000086 {source="MONDO:equivalentTo"} +xref: icd11.foundation:51749428 {source="MONDO:equivalentTo"} xref: ICDO:9534/0 {source="NCIT:C4332"} xref: MESH:D008579 {source="DOID:6548"} xref: NCIT:C4332 {source="MONDO:equivalentTo", source="DOID:6548", source="MONDO:exact-label-match"} @@ -68817,6 +69347,7 @@ synonym: "Fordyce angiokeratoma" EXACT [DOID:664] synonym: "Fordyce's spot" EXACT [DOID:664] synonym: "Fordyce-type angiokeratoma of scrotum" NARROW [DOID:664] xref: DOID:664 {source="MONDO:equivalentTo"} +xref: icd11.foundation:410953318 {source="MONDO:equivalentTo"} xref: NCIT:C7752 {source="DOID:664"} xref: SCTID:238747004 {source="DOID:664"} xref: SCTID:254789007 {source="DOID:664"} @@ -69004,6 +69535,7 @@ synonym: "ossification - muscle" EXACT [DOID:668] synonym: "progressive myositis ossificans" NARROW [MESH:D009221] synonym: "progressive ossifying myositis" NARROW [MESH:D009221] xref: DOID:668 {source="MONDO:equivalentTo"} +xref: icd11.foundation:635062595 {source="MONDO:equivalentTo"} xref: MESH:D009221 {source="DOID:668", source="MONDO:equivalentTo"} xref: NCIT:C3253 {source="DOID:668", source="MONDO:equivalentTo"} xref: SCTID:156720008 {source="DOID:668"} @@ -69061,6 +69593,7 @@ id: MONDO:0003969 name: amphetamine abuse def: "Disorders related or resulting from use of amphetamines." [MESH:D019969] xref: DOID:670 {source="MONDO:equivalentTo"} +xref: icd11.foundation:879494155 {source="MONDO:equivalentTo"} xref: ICD9:305.7 {source="DOID:670"} xref: ICD9:305.70 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D019969 {source="MONDO:equivalentTo"} @@ -70101,6 +70634,7 @@ id: MONDO:0004035 name: glomangiomatosis def: "A benign multifocal proliferation of glomus cells forming clusters around dilated vascular spaces." [NCIT:C27496] xref: DOID:6906 {source="MONDO:equivalentTo"} +xref: icd11.foundation:119731237 {source="MONDO:equivalentTo"} xref: NCIT:C27496 {source="MONDO:equivalentTo", source="DOID:6906"} xref: SCTID:703603008 {source="DOID:6906"} xref: UMLS:C1333824 {source="NCIT:C27496", source="MONDO:equivalentTo", source="DOID:6906"} @@ -70776,6 +71310,7 @@ def: "A benign tumor, composed of lobules of mature adipocytes, that penetrates synonym: "intramuscular lipoma" EXACT [DOID:7014, NCIT:C7450] synonym: "intramuscular lipoma (morphologic abnormality)" EXACT [DOID:7014] xref: DOID:7014 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1583783465 {source="MONDO:equivalentTo"} xref: NCIT:C7450 {source="DOID:7014"} xref: NCIT:C7451 {source="MONDO:equivalentTo", source="DOID:7014"} xref: SCTID:24045002 {source="DOID:7014"} @@ -71679,6 +72214,7 @@ xref: DOID:7166 {source="MONDO:equivalentTo"} xref: HP:0100646 {source="MONDO:otherHierarchy"} xref: ICD10CM:E06 {source="DOID:7166"} xref: ICD10CM:E06.9 {source="DOID:7166"} +xref: icd11.foundation:587793334 {source="MONDO:equivalentTo"} xref: ICD9:245 {source="DOID:7166"} xref: ICD9:245.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:7166"} xref: MESH:D013966 {source="MONDO:equivalentTo", source="DOID:7166"} @@ -71737,6 +72273,7 @@ synonym: "cloacogenic carcinoma (morphologic abnormality)" EXACT [DOID:7173] synonym: "cloacogenic carcinoma of anus" EXACT [NCIT:C8255] synonym: "cloacogenic carcinoma of the anus" EXACT [NCIT:C8255] xref: DOID:7173 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1771267581 {source="MONDO:equivalentTo"} xref: ICDO:8124/3 {source="NCIT:C8255"} xref: MESH:C563020 {source="MONDO:equivalentTo", source="DOID:7173"} xref: NCIT:C8255 {source="MONDO:equivalentTo", source="DOID:7173"} @@ -71946,6 +72483,7 @@ subset: rare synonym: "psammomatous meningioma (morphologic abnormality)" EXACT [DOID:7210] xref: DOID:7210 {source="MONDO:equivalentTo"} xref: EFO:1000500 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1835901277 {source="MONDO:equivalentTo"} xref: ICDO:9533/0 {source="NCIT:C4331"} xref: MESH:D008579 {source="DOID:7210"} xref: NCIT:C4331 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7210"} @@ -71963,6 +72501,7 @@ synonym: "fibroblastic meningioma" EXACT [DOID:7211, NCIT:C4330] synonym: "fibrous meningioma (morphologic abnormality)" EXACT [DOID:7211] xref: DOID:7211 {source="MONDO:equivalentTo"} xref: EFO:1000258 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1473506747 {source="MONDO:equivalentTo"} xref: ICDO:9532/0 {source="NCIT:C4330"} xref: MESH:D008579 {source="DOID:7211"} xref: NCIT:C4330 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7211"} @@ -71980,6 +72519,7 @@ synonym: "meningothelial meningioma (morphologic abnormality)" EXACT [DOID:7212] synonym: "Meningotheliomatous meningioma" EXACT [DOID:7212, NCIT:C4329] xref: DOID:7212 {source="MONDO:equivalentTo"} xref: EFO:1000372 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1110268915 {source="MONDO:equivalentTo"} xref: ICDO:9531/0 {source="NCIT:C4329"} xref: MESH:D008579 {source="DOID:7212"} xref: NCIT:C4329 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7212"} @@ -71998,6 +72538,7 @@ synonym: "transitional (mixed) meningioma" EXACT [DOID:7213, NCIT:C4333] synonym: "transitional meningioma (morphologic abnormality)" EXACT [DOID:7213] xref: DOID:7213 {source="MONDO:equivalentTo"} xref: EFO:1000602 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1116400515 {source="MONDO:equivalentTo"} xref: ICDO:9537/0 {source="NCIT:C4333"} xref: MESH:D008579 {source="DOID:7213"} xref: NCIT:C4333 {source="DOID:7213", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -72381,6 +72922,7 @@ id: MONDO:0004170 name: nodular episcleritis xref: DOID:728 {source="MONDO:equivalentTo"} xref: ICD10CM:H15.12 {source="DOID:728"} +xref: icd11.foundation:134477595 {source="MONDO:equivalentTo"} xref: ICD9:379.02 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:728"} xref: SCTID:70558001 {source="MONDO:equivalentTo", source="DOID:728"} xref: UMLS:C0155352 {source="MONDO:equivalentTo", source="DOID:728"} @@ -72679,6 +73221,8 @@ synonym: "pseudosarcomatous fibromatosis" EXACT [DOID:7327, Orphanet:477742] xref: DOID:7327 {source="MONDO:equivalentTo"} xref: GARD:21959 {source="Orphanet:477742"} xref: ICD10CM:M72.4 {source="DOID:7327", source="MONDO:equivalentTo"} +xref: icd11.foundation:1636614011 {source="MONDO:equivalentTo"} +xref: icd11.foundation:789101380 {source="MONDO:equivalentTo"} xref: ICD9:728.79 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3827 {source="DOID:7327", source="MONDO:equivalentTo"} xref: Orphanet:477742 {source="MONDO:equivalentTo"} @@ -73176,6 +73720,7 @@ synonym: "anthrax, skin type" RELATED [GARD:0008158] synonym: "skin anthrax" RELATED [GARD:0008158] xref: DOID:7426 {source="MONDO:equivalentTo"} xref: ICD10CM:A22.0 {source="DOID:7426", source="MONDO:equivalentTo"} +xref: icd11.foundation:2057984300 {source="MONDO:equivalentTo"} xref: ICD9:022.0 {source="DOID:7426", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:C531621 {source="DOID:7426", source="MONDO:equivalentTo"} xref: SCTID:84980006 {source="DOID:7426", source="MONDO:equivalentTo"} @@ -73343,6 +73888,7 @@ synonym: "polyp - middle ear" EXACT [DOID:7439] synonym: "polyp of the middle ear" EXACT [DOID:7439, NCIT:C6933] xref: DOID:7439 {source="MONDO:equivalentTo"} xref: ICD10CM:H74.4 {source="MONDO:equivalentTo", source="DOID:7439"} +xref: icd11.foundation:116272899 {source="MONDO:equivalentTo"} xref: NCIT:C6933 {source="MONDO:equivalentTo", source="DOID:7439"} xref: SCTID:155244001 {source="DOID:7439"} xref: SCTID:267766007 {source="DOID:7439"} @@ -73625,6 +74171,7 @@ synonym: "large cell carcinoma with rhabdoid phenotype (morphologic abnormality) synonym: "large cell lung carcinoma with rhabdoid phenotype" EXACT [DOID:7480, NCIT:C6876] synonym: "RLCLC" RELATED ABBREVIATION [ONCOTREE:RLCLC] xref: DOID:7480 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1018375082 {source="MONDO:equivalentTo"} xref: ICDO:8014/3 {source="NCIT:C6876"} xref: NCIT:C6876 {source="MONDO:equivalentTo", source="DOID:7480"} xref: ONCOTREE:RLCLC {source="MONDO:equivalentTo"} @@ -74134,6 +74681,7 @@ name: acute endometritis def: "An acute, usually bacterial infection affecting the endometrium. It is characterized by the presence of neutrophils or microabscesses in the endometrial glands. Symptoms include fever, lower abdominal pain, and vaginal discharge." [NCIT:P378] synonym: "endometritis, acute" EXACT [MONDO:patterns/acute] xref: DOID:7528 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1197441046 {source="MONDO:equivalentTo"} xref: ICD9:615.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C27022 {source="DOID:7528", source="MONDO:equivalentTo"} xref: SCTID:155976002 {source="DOID:7528"} @@ -74168,6 +74716,7 @@ name: squamous papillomatosis def: "A benign squamous neoplasm characterized by a papillary growth pattern, diffusely involving a specific anatomic site." [NCIT:C9009] synonym: "squamous papillomatosis" EXACT [NCIT:C9009] xref: DOID:7532 {source="MONDO:equivalentTo"} +xref: icd11.foundation:149760023 {source="MONDO:equivalentTo"} xref: ICDO:8060/0 {source="NCIT:C9009"} xref: NCIT:C9009 {source="DOID:7532", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:82049002 {source="DOID:7532"} @@ -74251,6 +74800,7 @@ def: "A rare, benign and well circumscribed neoplasm that arises from the breast synonym: "apocrine adenoma of breast" EXACT [MONDO:design_pattern] synonym: "breast apocrine adenoma" EXACT [MONDO:patterns/location, NCIT:C40383] xref: DOID:7540 {source="MONDO:equivalentTo"} +xref: icd11.foundation:636674012 {source="MONDO:equivalentTo"} xref: NCIT:C40383 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7540"} xref: UMLS:C1388299 {source="MONDO:equivalentTo", source="NCIT:C40383", source="DOID:7540"} is_a: MONDO:0002058 {source="DOID:7540", source="NCIT:C40383"} ! breast adenoma @@ -74766,6 +75316,7 @@ synonym: "chief cell adenoma of the parathyroid gland" EXACT [NCIT:C4154] synonym: "parathyroid chief cell adenoma" EXACT [NCIT:C4154] synonym: "parathyroid gland chief cell adenoma" EXACT [NCIT:C4154] xref: DOID:7607 {source="MONDO:equivalentTo"} +xref: icd11.foundation:529874551 {source="MONDO:equivalentTo"} xref: ICDO:8321/0 {source="NCIT:C4154"} xref: NCIT:C4154 {source="MONDO:equivalentTo", source="DOID:7607"} xref: SCTID:12205003 {source="DOID:7607"} @@ -75090,6 +75641,7 @@ name: endometrial mixed adenocarcinoma def: "An adenocarcinoma that arises from the endometrium and is characterized by the presence of both type I and type II endometrial adenocarcinoma components. The minor component constitutes at least 5% of the entire tumor." [NCIT:C40153] synonym: "endometrial mixed adenocarcinoma" EXACT [NCIT:C40153] xref: DOID:7664 {source="MONDO:equivalentTo"} +xref: icd11.foundation:575106861 {source="MONDO:equivalentTo"} xref: NCIT:C40153 {source="DOID:7664", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1516856 {source="DOID:7664", source="MONDO:equivalentTo", source="NCIT:C40153"} is_a: MONDO:0005461 {source="DOID:7664", source="NCIT:C40153"} ! endometrium adenocarcinoma @@ -75859,6 +76411,7 @@ def: "A disorder characterized by the presence of one or more nonbizarre delusio xref: DOID:778 {source="MONDO:equivalentTo"} xref: ICD10CM:F22 {source="DOID:778"} xref: ICD10WHO:F22.0 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1974996783 {source="MONDO:equivalentTo"} xref: ICD9:297.1 {source="DOID:778", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D012563 {source="DOID:778", source="MONDO:relatedTo"} xref: NCIT:C94379 {source="DOID:778", source="MONDO:equivalentTo"} @@ -76620,6 +77173,7 @@ synonym: "Barrett adenocarcinoma" EXACT [DOID:7941, NCIT:C7027] synonym: "Barrett's adenocarcinoma" EXACT [NCIT:C7027] xref: DOID:7941 {source="MONDO:equivalentTo"} xref: EFO:1001939 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1934528268 {source="MONDO:equivalentTo"} xref: NCIT:C7027 {source="DOID:7941", source="MONDO:equivalentTo"} xref: SCTID:721617001 {source="MONDO:equivalentTo"} xref: UMLS:C1332460 {source="DOID:7941", source="MONDO:equivalentTo", source="NCIT:C7027"} @@ -77288,6 +77842,7 @@ synonym: "meningioma of olfactory groove" EXACT [NCIT:C6771] synonym: "meningioma of the olfactory groove" EXACT [DOID:8057, NCIT:C6771] synonym: "olfactory sulcus meningioma (disease)" EXACT [MONDO:patterns/location] xref: DOID:8057 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1489164089 {source="MONDO:equivalentTo"} xref: MESH:D008579 {source="DOID:8057"} xref: NCIT:C6771 {source="MONDO:equivalentTo", source="DOID:8057"} xref: UMLS:C1335107 {source="NCIT:C6771", source="MONDO:equivalentTo", source="DOID:8057"} @@ -78087,6 +78642,7 @@ comment: There is a question whether the inflammation site is the mediastinum it xref: DOID:819 {source="MONDO:equivalentTo"} xref: ICD10CM:J98.5 {source="DOID:819"} xref: ICD10CM:J98.51 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1612791605 {source="MONDO:equivalentTo"} xref: ICD9:519.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:819"} xref: MESH:D008480 {source="MONDO:equivalentTo", source="DOID:819"} xref: NCIT:C26827 {source="MONDO:equivalentTo", source="DOID:819"} @@ -78133,6 +78689,7 @@ def: "A cataract occurring as a sequela of myotonic dystrophy." [NCIT:P378] subset: inferred_rare subset: rare xref: DOID:82 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1723425593 {source="MONDO:equivalentTo"} xref: ICD9:359.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:366.43 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:82"} xref: NCIT:C34833 {source="MONDO:equivalentTo", source="DOID:82"} @@ -78154,6 +78711,7 @@ synonym: "myocardium inflammation" EXACT [MONDO:patterns/inflammatory_disease_by xref: DOID:820 {source="MONDO:equivalentTo"} xref: ICD10CM:I40 {source="MONDO:equivalentTo"} xref: ICD10CM:I51.4 {source="DOID:820"} +xref: icd11.foundation:1018829714 {source="MONDO:equivalentTo"} xref: ICD9:429.0 {source="DOID:820", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D009205 {source="DOID:820", source="MONDO:equivalentTo"} xref: NCIT:C34831 {source="DOID:820", source="MONDO:equivalentTo"} @@ -78332,6 +78890,7 @@ synonym: "apical periodontitis NOS" RELATED EXCLUDE [DOID:823] xref: DOID:823 {source="MONDO:equivalentTo"} xref: EFO:1001391 {source="MONDO:equivalentTo"} xref: ICD10CM:K04.5 {source="DOID:823"} +xref: icd11.foundation:1395124674 {source="MONDO:equivalentTo"} xref: MESH:D010485 {source="DOID:823", source="MONDO:equivalentTo"} xref: SCTID:39273001 {source="DOID:823", source="MONDO:equivalentTo"} xref: UMLS:C0031030 {source="DOID:823", source="MONDO:equivalentTo"} @@ -78358,6 +78917,7 @@ subset: inferred_rare subset: rare synonym: "inflammatory liposarcoma" EXACT [DOID:8233, NCIT:C6508] xref: DOID:8233 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1908644887 {source="MONDO:equivalentTo"} xref: NCIT:C6508 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:8233"} xref: SCTID:28655007 {source="DOID:8233"} xref: UMLS:C1370890 {source="MONDO:equivalentTo", source="DOID:8233", source="NCIT:C6508"} @@ -78389,6 +78949,7 @@ synonym: "meningeal cluster melanomatosis" EXACT [MONDO:patterns/location] synonym: "meningeal melanomatosis" EXACT [NCIT:C6891] synonym: "meningeal melanomatosis (morphologic abnormality)" EXACT [DOID:8243] xref: DOID:8243 {source="MONDO:equivalentTo"} +xref: icd11.foundation:771414337 {source="MONDO:equivalentTo"} xref: ICDO:8728/3 {source="NCIT:C6891"} xref: NCIT:C6891 {source="MONDO:equivalentTo", source="DOID:8243"} xref: SCTID:128731008 {source="DOID:8243"} @@ -78423,6 +78984,7 @@ synonym: "rhinitis - chronic" EXACT [DOID:8252] synonym: "rhinitis, chronic" EXACT [MONDO:patterns/chronic] xref: DOID:8252 {source="MONDO:equivalentTo"} xref: ICD10CM:J31.0 {source="DOID:8252"} +xref: icd11.foundation:1346915097 {source="MONDO:equivalentTo"} xref: ICD9:472.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8252"} xref: NCIT:C34479 {source="MONDO:equivalentTo", source="DOID:8252"} xref: SCTID:155522005 {source="DOID:8252"} @@ -78556,6 +79118,7 @@ synonym: "retractile mesenteritis" EXACT [DOID:8283] synonym: "sclerosing mesenteritis" RELATED EXCLUDE [DOID:8283] xref: DOID:8283 {source="MONDO:equivalentTo"} xref: EFO:0008588 {source="MONDO:equivalentTo"} +xref: icd11.foundation:775356003 {source="MONDO:equivalentTo"} xref: ICD9:567.8 {source="DOID:8283"} xref: ICD9:567.82 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:567.89 {source="DOID:8283"} @@ -78613,6 +79176,7 @@ synonym: "Sarcoptes scabiei infectious disease" EXACT [] synonym: "sarcoptic itch" EXACT [DOID:8295] xref: DOID:8295 {source="MONDO:equivalentTo"} xref: ICD10CM:B86 {source="MONDO:equivalentTo", source="DOID:8295"} +xref: icd11.foundation:876005123 {source="MONDO:equivalentTo"} xref: ICD9:133.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8295"} xref: MESH:D012532 {source="MONDO:equivalentTo", source="DOID:8295"} xref: NCIT:C34998 {source="MONDO:equivalentTo", source="DOID:8295"} @@ -78934,6 +79498,7 @@ synonym: "meningioma, chordoid" EXACT [DOID:8368] synonym: "meningioma, chordoid (morphologic abnormality)" EXACT [DOID:8368] xref: DOID:8368 {source="MONDO:equivalentTo"} xref: EFO:1000176 {source="MONDO:equivalentTo"} +xref: icd11.foundation:146148584 {source="MONDO:equivalentTo"} xref: NCIT:C6908 {source="DOID:8368", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:CHOM {source="MONDO:equivalentTo"} xref: SCTID:399709001 {source="DOID:8368"} @@ -79083,6 +79648,7 @@ synonym: "Meckel diverticulitis" EXACT [DOID:8408, NCIT:C27300] synonym: "Meckel's diverticulitis" RELATED [NCIT:C27300] synonym: "Meckel's diverticulum inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:8408 {source="MONDO:equivalentTo"} +xref: icd11.foundation:543494453 {source="MONDO:equivalentTo"} xref: NCIT:C27300 {source="DOID:8408", source="MONDO:equivalentTo"} xref: SCTID:48241004 {source="DOID:8408", source="MONDO:equivalentTo"} xref: UMLS:C0267497 {source="NCIT:C27300", source="DOID:8408", source="MONDO:equivalentTo"} @@ -79368,6 +79934,7 @@ synonym: "paralytic ileus (disease)" EXACT [https://orcid.org/0000-0002-6601-216 xref: DOID:8442 {source="MONDO:equivalentTo"} xref: HP:0002590 {source="MONDO:otherHierarchy"} xref: ICD10CM:K56.0 {source="DOID:8442"} +xref: icd11.foundation:1868011045 {source="MONDO:equivalentTo"} xref: ICD9:560.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8442"} xref: MESH:D007418 {source="DOID:8442", source="MONDO:directSiblingOf"} xref: NCIT:C93045 {source="MONDO:equivalentTo", source="DOID:8442"} @@ -79438,6 +80005,7 @@ synonym: "cyclothymia" EXACT [DOID:845] synonym: "cyclothymic personality" EXACT [DOID:845] xref: DOID:845 {source="MONDO:equivalentTo"} xref: ICD10CM:F34.0 {source="DOID:845", source="MONDO:equivalentTo"} +xref: icd11.foundation:1427638883 {source="MONDO:equivalentTo"} xref: ICD9:301.1 {source="DOID:845"} xref: ICD9:301.10 {source="DOID:845", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:301.13 {source="DOID:845", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -79538,6 +80106,7 @@ xref: DOID:8463 {source="MONDO:equivalentTo"} xref: HP:0200020 {source="MONDO:otherHierarchy"} xref: ICD10CM:H16.0 {source="MONDO:equivalentTo", source="DOID:8463"} xref: ICD10CM:H16.00 {source="DOID:8463"} +xref: icd11.foundation:2089700977 {source="MONDO:equivalentTo"} xref: ICD9:370.0 {source="DOID:8463"} xref: ICD9:370.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8463"} xref: MESH:D003320 {source="MONDO:equivalentTo", source="DOID:8463"} @@ -79569,6 +80138,7 @@ name: retinoschisis def: "An inherited or acquired disorder characterized by splitting of the retina into two layers. It results in loss of vision." [NCIT:P378] xref: DOID:8465 {source="MONDO:equivalentTo"} xref: ICD10CM:H33.10 {source="DOID:8465"} +xref: icd11.foundation:1118046584 {source="MONDO:equivalentTo"} xref: ICD9:361.10 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8465"} xref: MESH:D041441 {source="MONDO:equivalentTo", source="DOID:8465"} xref: NCIT:C85046 {source="MONDO:equivalentTo", source="DOID:8465"} @@ -79616,6 +80186,7 @@ xref: DOID:8481 {source="MONDO:equivalentTo"} xref: ICD10CM:I01.9 {source="DOID:8481"} xref: ICD10CM:I09.0 {source="DOID:8481"} xref: ICD10CM:M05.3 {source="DOID:8481"} +xref: icd11.foundation:1177212968 {source="MONDO:equivalentTo"} xref: ICD9:391.9 {source="DOID:8481"} xref: ICD9:398.0 {source="DOID:8481"} xref: NCIT:C34985 {source="DOID:8481"} @@ -79737,6 +80308,7 @@ synonym: "hereditary night blindness" EXACT [MONDO:patterns/hereditary] synonym: "Oguchi's disease" BROAD [DOID:8498] xref: DOID:8498 {source="MONDO:equivalentTo"} xref: ICD10CM:H53.63 {source="DOID:8498"} +xref: icd11.foundation:122338861 {source="MONDO:equivalentTo"} xref: ICD9:368.61 {source="MONDO:directSiblingOf", source="DOID:8498"} xref: MESH:C537743 {source="MONDO:relatedTo", source="DOID:8498"} xref: SCTID:193687000 {source="MONDO:equivalentTo", source="DOID:8498"} @@ -79759,6 +80331,7 @@ synonym: "nyctalopia" EXACT [NCIT:C34850] xref: DOID:8499 {source="MONDO:equivalentTo"} xref: ICD10CM:H53.6 {source="MONDO:equivalentTo", source="DOID:8499"} xref: ICD10CM:H53.60 {source="DOID:8499"} +xref: icd11.foundation:205882698 {source="MONDO:equivalentTo"} xref: ICD9:368.6 {source="DOID:8499"} xref: ICD9:368.60 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8499"} xref: ICD9:368.69 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -79809,6 +80382,7 @@ xref: EFO:1000714 {source="MONDO:equivalentTo"} xref: ICD10CM:L01 {source="DOID:8504", source="MONDO:equivalentTo"} xref: ICD10CM:L01.0 {source="DOID:8504"} xref: ICD10CM:L01.00 {source="DOID:8504"} +xref: icd11.foundation:971176543 {source="MONDO:equivalentTo"} xref: ICD9:684 {source="DOID:8504", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D007169 {source="DOID:8504", source="MONDO:equivalentTo"} xref: NCIT:C99088 {source="DOID:8504", source="MONDO:equivalentTo"} @@ -79885,6 +80459,7 @@ xref: DOID:8515 {source="MONDO:equivalentTo"} xref: ICD10CM:I26-I28 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:I27.81 {source="DOID:8515", source="MONDO:equivalentTo"} xref: ICD10CM:I27.9 {source="DOID:8515"} +xref: icd11.foundation:738218522 {source="MONDO:equivalentTo"} xref: MESH:D011660 {source="DOID:8515", source="MONDO:equivalentTo"} xref: SCTID:155323004 {source="DOID:8515"} xref: SCTID:155329000 {source="DOID:8515"} @@ -80233,6 +80808,7 @@ xref: DOID:2570 {source="MONDO:equivalentTo"} xref: DOID:8580 {source="MONDO:equivalentObsolete"} xref: EFO:1001499 {source="MONDO:equivalentTo"} xref: ICD10CM:C96.A {source="MONDO:relatedTo", source="DOID:8580"} +xref: icd11.foundation:124534703 {source="MONDO:equivalentTo"} xref: ICD9:202.3 {source="DOID:8580"} xref: ICDO:9750/3 {source="NCIT:C7202"} xref: MESH:D015620 {source="MONDO:equivalentTo", source="DOID:2570"} @@ -80378,6 +80954,7 @@ xref: DOID:8622 {source="MONDO:equivalentTo"} xref: EFO:1002025 {source="MONDO:equivalentTo"} xref: ICD10CM:B05 {source="DOID:8622", source="MONDO:equivalentTo"} xref: ICD10CM:B05.9 {source="DOID:8622"} +xref: icd11.foundation:1826431497 {source="MONDO:equivalentTo"} xref: ICD9:055 {source="DOID:8622"} xref: MESH:D008457 {source="DOID:8622", source="MONDO:equivalentTo"} xref: NCIT:C96406 {source="DOID:8622", source="MONDO:equivalentTo"} @@ -80561,6 +81138,7 @@ synonym: "hemorrhagic duodenitis" NARROW [DOID:8643, MTH:NOCODE] synonym: "inflammation of duodenum" EXACT [] xref: DOID:8643 {source="MONDO:equivalentTo"} xref: ICD10CM:K29.8 {source="DOID:8643", source="MONDO:equivalentTo"} +xref: icd11.foundation:1595026136 {source="MONDO:equivalentTo"} xref: ICD9:535.6 {source="DOID:8643"} xref: ICD9:535.60 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D004382 {source="DOID:8643", source="MONDO:equivalentTo"} @@ -81052,6 +81630,7 @@ synonym: "alcoholic gastritis, without mention of haemorrhage" EXACT OMO:0003005 synonym: "alcoholic gastritis, without mention of hemorrhage" EXACT [DOID:8680] xref: DOID:8680 {source="MONDO:equivalentTo"} xref: ICD10CM:K29.2 {source="MONDO:equivalentTo", source="DOID:8680"} +xref: icd11.foundation:1081291109 {source="MONDO:equivalentTo"} xref: ICD9:535.3 {source="DOID:8680"} xref: ICD9:535.30 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C26977 {source="MONDO:equivalentTo", source="DOID:8680"} @@ -81425,6 +82004,7 @@ synonym: "Variola virus infectious disease" EXACT [] synonym: "variola virus VAR infection" RELATED [NCIT:C96527] xref: DOID:8736 {source="MONDO:equivalentTo"} xref: ICD10CM:B03 {source="DOID:8736", source="MONDO:equivalentTo"} +xref: icd11.foundation:2054716425 {source="MONDO:equivalentTo"} xref: ICD9:050 {source="DOID:8736"} xref: ICD9:050.9 {source="DOID:8736", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D012899 {source="DOID:8736", source="MONDO:equivalentTo"} @@ -81451,6 +82031,7 @@ synonym: "pneumonia due to other gram-negative bacteria" EXACT [DOID:874, ICD9CM xref: DOID:874 {source="MONDO:equivalentTo"} xref: EFO:1001272 {source="MONDO:equivalentTo"} xref: ICD10CM:J15.9 {source="DOID:874"} +xref: icd11.foundation:1323682030 {source="MONDO:equivalentTo"} xref: ICD9:482.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:482.9 {source="DOID:874", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D018410 {source="DOID:874", source="MONDO:equivalentTo"} @@ -81541,6 +82122,7 @@ xref: DOID:8781 {source="MONDO:equivalentTo"} xref: EFO:1002026 {source="MONDO:equivalentTo"} xref: ICD10CM:B06 {source="MONDO:equivalentTo", source="DOID:8781"} xref: ICD10CM:B06.9 {source="DOID:8781"} +xref: icd11.foundation:410022648 {source="MONDO:equivalentTo"} xref: ICD9:056 {source="DOID:8781"} xref: MESH:D012409 {source="MONDO:equivalentTo", source="DOID:8781"} xref: NCIT:C85051 {source="MONDO:equivalentTo", source="DOID:8781"} @@ -81686,6 +82268,7 @@ synonym: "Heterophyes infectious disease" EXACT [DOID:882] synonym: "infections, Heterophyes" RELATED [MONDO:patterns/infectious_disease_by_agent] xref: DOID:882 {source="MONDO:equivalentTo"} xref: ICD10CM:B66.8 {source="DOID:882"} +xref: icd11.foundation:322536023 {source="MONDO:equivalentTo"} xref: ICD9:121.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:882"} xref: NCIT:C128389 {source="MONDO:equivalentTo"} xref: SCTID:187126008 {source="DOID:882"} @@ -81781,6 +82364,7 @@ synonym: "NSHL" EXACT ABBREVIATION [DOID:8838, NCIT:C3518] xref: DOID:8838 {source="MONDO:equivalentTo"} xref: EFO:0004708 {source="MONDO:equivalentTo"} xref: ICD10CM:C81.1 {source="DOID:8838"} +xref: icd11.foundation:1995941600 {source="MONDO:equivalentTo"} xref: ICD9:201.5 {source="DOID:8838"} xref: ICDO:9663/3 {source="NCIT:C3518"} xref: NCIT:C3518 {source="MONDO:equivalentTo", source="DOID:8838", source="EFO:0004708"} @@ -81804,6 +82388,7 @@ synonym: "infections, Metagonimus yokogawai" RELATED [MONDO:patterns/infectious_ synonym: "Metagonimus yokogawai infection" EXACT [GARD:0009745, MONDO:patterns/infectious_disease_by_agent] xref: DOID:884 {source="MONDO:equivalentTo"} xref: ICD10CM:B66.8 {source="DOID:884"} +xref: icd11.foundation:844727447 {source="MONDO:equivalentTo"} xref: ICD9:121.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:884"} xref: MESH:D014201 {source="DOID:884"} xref: NCIT:C128390 {source="MONDO:equivalentTo"} @@ -81856,6 +82441,7 @@ synonym: "sheep liver fluke infection" EXACT [DOID:885] xref: DOID:885 {source="MONDO:equivalentTo"} xref: EFO:1001324 {source="MONDO:equivalentTo"} xref: ICD10CM:B66.3 {source="DOID:885", source="MONDO:equivalentTo"} +xref: icd11.foundation:656408831 {source="MONDO:equivalentTo"} xref: ICD9:121.3 {source="DOID:885"} xref: MESH:D005211 {source="DOID:885", source="MONDO:equivalentTo"} xref: NCIT:C128387 {source="MONDO:equivalentTo"} @@ -81920,6 +82506,7 @@ synonym: "lupus erythematosus" EXACT [NCIT:C27153] xref: DOID:8857 {source="MONDO:equivalentTo"} xref: ICD10CM:L93 {source="DOID:8857", source="MONDO:equivalentTo"} xref: ICD10CM:L93.0 {source="DOID:8857"} +xref: icd11.foundation:1443317238 {source="MONDO:equivalentTo"} xref: ICD9:695.4 {source="DOID:8857", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C27153 {source="DOID:8857", source="MONDO:equivalentTo"} xref: SCTID:200936003 {source="DOID:8857", source="MONDO:equivalentTo"} @@ -81981,6 +82568,7 @@ synonym: "infection by Fasciolopsis buski" EXACT [DOID:888] synonym: "infectious disease by Fasciolopsis" EXACT [DOID:888] xref: DOID:888 {source="MONDO:equivalentTo"} xref: ICD10CM:B66.5 {source="DOID:888", source="MONDO:equivalentTo"} +xref: icd11.foundation:830824191 {source="MONDO:equivalentTo"} xref: ICD9:121.4 {source="DOID:888", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D014201 {source="DOID:888"} xref: NCIT:C128388 {source="MONDO:equivalentTo"} @@ -82063,6 +82651,7 @@ synonym: "microsporosis nigra" RELATED [DOID:8912] synonym: "Tinea palmaris nigra" EXACT [DOID:8912] xref: DOID:8912 {source="MONDO:equivalentTo"} xref: ICD10CM:B36.1 {source="DOID:8912", source="MONDO:equivalentTo"} +xref: icd11.foundation:1723085409 {source="MONDO:equivalentTo"} xref: ICD9:111.1 {source="DOID:8912"} xref: SCTID:1022006 {source="DOID:8912"} xref: SCTID:183342005 {source="DOID:8912", source="MONDO:equivalentTo"} @@ -82089,6 +82678,7 @@ synonym: "skin diseases, fungal" EXACT [MESH:D003881] xref: DOID:8913 {source="MONDO:equivalentTo"} xref: ICD10CM:B35 {source="MONDO:equivalentTo", source="DOID:8913"} xref: ICD10CM:B35.9 {source="DOID:8913"} +xref: icd11.foundation:1802307036 {source="MONDO:equivalentTo"} xref: ICD9:110 {source="DOID:8913"} xref: ICD9:110.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:110.9 {source="MONDO:equivalentTo", source="DOID:8913", source="MONDO:i2s"} @@ -82114,6 +82704,7 @@ synonym: "leukoplakia of the vagina" EXACT [NCIT:C3663] synonym: "vaginal leukoplakia" EXACT [DOID:8920, NCIT:C3663] xref: DOID:8920 {source="MONDO:equivalentTo"} xref: ICD10CM:N89.4 {source="DOID:8920", source="MONDO:equivalentTo"} +xref: icd11.foundation:644756612 {source="MONDO:equivalentTo"} xref: ICD9:623.1 {source="DOID:8920", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3663 {source="DOID:8920", source="MONDO:equivalentTo"} xref: SCTID:111420009 {source="DOID:8920", source="MONDO:equivalentTo"} @@ -82257,6 +82848,7 @@ synonym: "lattice corneal dystrophy" EXACT [MONDO:ambiguous] synonym: "lattice corneal dystrophy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:8943 {source="MONDO:equivalentTo"} xref: HP:0001149 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:1247885635 {source="MONDO:equivalentTo"} xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:357.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537935 {source="DOID:8943"} @@ -82275,6 +82867,7 @@ synonym: "severe nonproliferative retinopathy" RELATED [] synonym: "severe NPDR" EXACT [DOID:8946] synonym: "severe npdr" RELATED [] xref: DOID:8946 {source="MONDO:equivalentTo"} +xref: icd11.foundation:561966379 {source="MONDO:equivalentTo"} xref: ICD9:362.06 {source="MONDO:equivalentTo", source="DOID:8946", source="MONDO:i2s"} xref: SCTID:312905005 {source="MONDO:equivalentTo", source="DOID:8946"} xref: SCTID:390720006 {source="DOID:8946"} @@ -82340,6 +82933,7 @@ xref: DOID:898 {source="MONDO:equivalentTo"} xref: EFO:1001496 {source="MONDO:equivalentTo"} xref: GARD:10413 {source="Orphanet:730"} xref: ICD10CM:Q61.3 {source="DOID:898"} +xref: icd11.foundation:91220434 {source="MONDO:equivalentTo"} xref: icd11.foundation:91220434 {source="Orphanet:730", source="MONDO:equivalentTo"} xref: ICD9:753.12 {source="DOID:898"} xref: ICD9:753.13 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -82420,6 +83014,7 @@ subset: rare xref: DOID:900 {source="MONDO:equivalentTo"} xref: EFO:1001346 {source="MONDO:equivalentTo"} xref: ICD10CM:K76.81 {source="DOID:900", source="MONDO:equivalentTo"} +xref: icd11.foundation:866605228 {source="MONDO:equivalentTo"} xref: ICD9:417.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:573.5 {source="DOID:900"} xref: MESH:D020065 {source="DOID:900", source="MONDO:equivalentTo"} @@ -82720,6 +83315,7 @@ id: MONDO:0004706 name: discoid lupus erythematosus of eyelid xref: DOID:9076 {source="MONDO:equivalentTo"} xref: ICD10CM:H01.12 {source="DOID:9076"} +xref: icd11.foundation:743513349 {source="MONDO:equivalentTo"} xref: ICD9:373.34 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9076"} xref: SCTID:79291003 {source="MONDO:equivalentTo", source="DOID:9076"} xref: UMLS:C0155180 {source="MONDO:equivalentTo", source="DOID:9076"} @@ -82989,6 +83585,7 @@ synonym: "hepatic peliosis" EXACT [DOID:914] xref: DOID:914 {source="MONDO:equivalentTo"} xref: EFO:1001387 {source="MONDO:equivalentTo"} xref: ICD10CM:K76.4 {source="DOID:914", source="MONDO:equivalentTo"} +xref: icd11.foundation:1210061614 {source="MONDO:equivalentTo"} xref: MESH:D010382 {source="DOID:914", source="MONDO:equivalentTo"} xref: SCTID:197366003 {source="DOID:914"} xref: SCTID:240625009 {source="DOID:914"} @@ -83001,6 +83598,7 @@ id: MONDO:0004718 name: xeroderma of eyelid xref: DOID:9140 {source="MONDO:equivalentTo"} xref: ICD10CM:H01.14 {source="DOID:9140"} +xref: icd11.foundation:144401595 {source="MONDO:equivalentTo"} xref: ICD9:373.33 {source="DOID:9140", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:55846006 {source="DOID:9140", source="MONDO:equivalentTo"} xref: UMLS:C0155179 {source="DOID:9140", source="MONDO:equivalentTo"} @@ -83539,6 +84137,7 @@ xref: DOID:9286 {source="MONDO:equivalentTo"} xref: GARD:19933 {source="Orphanet:140949"} xref: ICD10CM:N48.3 {source="MONDO:equivalentTo", source="DOID:9286"} xref: ICD10CM:N48.30 {source="DOID:9286"} +xref: icd11.foundation:1983776037 {source="MONDO:equivalentTo"} xref: ICD9:607.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9286"} xref: MESH:D011317 {source="MONDO:equivalentTo", source="DOID:9286"} xref: NCIT:C85022 {source="MONDO:otherHierarchy", source="DOID:9286"} @@ -83586,6 +84185,7 @@ xref: EFO:0003959 {source="MONDO:equivalentTo", source="DOID:9296"} xref: HP:0410030 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q36 {source="DOID:9296"} xref: ICD10CM:Q36.9 {source="DOID:9296"} +xref: icd11.foundation:172183323 {source="MONDO:equivalentTo"} xref: ICD9:749.1 {source="DOID:9296"} xref: ICD9:749.10 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9296"} xref: ICD9:749.11 {source="DOID:9296"} @@ -83713,6 +84313,7 @@ comment: May be ceded to HPO xref: DOID:9306 {source="MONDO:equivalentTo"} xref: ICD10CM:H50.6 {source="DOID:9306", source="MONDO:equivalentTo"} xref: ICD10CM:H50.60 {source="DOID:9306"} +xref: icd11.foundation:230827382 {source="MONDO:equivalentTo"} xref: ICD9:378.6 {source="DOID:9306"} xref: ICD9:378.60 {source="DOID:9306", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D013285 {source="DOID:9306"} @@ -83732,6 +84333,7 @@ synonym: "rectal prolapse (disease)" EXACT [https://orcid.org/0000-0002-6601-216 xref: DOID:9307 {source="MONDO:equivalentTo"} xref: HP:0002035 {source="MONDO:otherHierarchy"} xref: ICD10CM:K62.3 {source="DOID:9307", source="MONDO:equivalentTo"} +xref: icd11.foundation:231914102 {source="MONDO:equivalentTo"} xref: ICD9:569.1 {source="DOID:9307"} xref: MESH:D012005 {source="https://orcid.org/0000-0003-1967-3726", source="DOID:9307", source="MONDO:equivalentTo"} xref: NCIT:C34973 {source="DOID:9307", source="MONDO:equivalentTo"} @@ -83788,6 +84390,7 @@ synonym: "ethmoid sinusitis, chronic" EXACT [MONDO:patterns/chronic] synonym: "ethmoidal sinusitis - chronic" EXACT [DOID:9312] xref: DOID:9312 {source="MONDO:equivalentTo"} xref: ICD10CM:J32.2 {source="MONDO:equivalentTo", source="DOID:9312"} +xref: icd11.foundation:1076459084 {source="MONDO:equivalentTo"} xref: ICD9:473.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9312"} xref: NCIT:C34472 {source="MONDO:equivalentTo", source="DOID:9312"} xref: SCTID:155528009 {source="DOID:9312"} @@ -84155,6 +84758,7 @@ synonym: "laryngitis" BROAD [NCIT:C26688] synonym: "laryngitis, acute" EXACT [MONDO:patterns/acute] xref: DOID:9396 {source="MONDO:equivalentTo"} xref: ICD10CM:J04.0 {source="MONDO:equivalentTo", source="DOID:9396"} +xref: icd11.foundation:1180710837 {source="MONDO:equivalentTo"} xref: ICD9:464.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9396"} xref: ICD9:464.00 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:464.01 {source="DOID:9396"} @@ -84177,6 +84781,7 @@ def: "A disorder involving inflammation of the epididymis and testes." [https:// xref: DOID:9401 {source="MONDO:equivalentTo"} xref: ICD10CM:N45 {source="DOID:9401"} xref: ICD10CM:N45.3 {source="MONDO:equivalentTo", source="DOID:9401"} +xref: icd11.foundation:1745517194 {source="MONDO:equivalentTo"} xref: ICD9:604 {source="DOID:9401"} xref: ICD9:604.90 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9401"} xref: SCTID:155913003 {source="DOID:9401"} @@ -84237,6 +84842,7 @@ xref: DOID:9408 {source="MONDO:equivalentTo"} xref: EFO:0008583 {source="MONDO:equivalentTo"} xref: ICD10CM:I21.3 {source="DOID:9408"} xref: ICD10CM:I21.9 {source="https://doi.org/10.1186/1472-6963-13-468", source="MONDO:equivalentTo"} +xref: icd11.foundation:1334938734 {source="MONDO:equivalentTo"} xref: ICD9:410 {source="DOID:9408"} xref: ICD9:410.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:410.81 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -84287,6 +84893,7 @@ synonym: "extrinsic asthma with acute exacerbation" EXACT [DOID:9415] synonym: "extrinsic asthma with status asthmaticus" EXACT [DOID:9415] xref: DOID:9415 {source="MONDO:equivalentTo"} xref: ICD10CM:J45 {source="DOID:9415"} +xref: icd11.foundation:1870104478 {source="MONDO:equivalentTo"} xref: ICD9:493.0 {source="DOID:9415"} xref: SCTID:155575009 {source="DOID:9415"} xref: SCTID:16862005 {source="DOID:9415"} @@ -84395,6 +85002,7 @@ synonym: "cholangitis" EXACT [NCIT:C26718] synonym: "inflammation of biliary tree" EXACT [] xref: DOID:9446 {source="MONDO:equivalentTo"} xref: ICD10CM:K83.0 {source="DOID:9446", source="MONDO:equivalentTo"} +xref: icd11.foundation:1712178777 {source="MONDO:equivalentTo"} xref: ICD9:576.1 {source="DOID:9446", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D002761 {source="DOID:9446", source="MONDO:equivalentTo"} xref: NCIT:C26718 {source="DOID:9446", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -84474,6 +85082,7 @@ synonym: "exposure keratoconjunctivitis" EXACT [DOID:9461, ICD9CM:370.34] synonym: "lagophthalmic keratitis" EXACT [DOID:9461] xref: DOID:9461 {source="MONDO:equivalentTo"} xref: ICD10CM:H16.21 {source="DOID:9461"} +xref: icd11.foundation:1261495652 {source="MONDO:equivalentTo"} xref: ICD9:370.34 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9461"} xref: SCTID:14366000 {source="MONDO:equivalentTo", source="DOID:9461"} xref: UMLS:C0339295 {source="MONDO:equivalentTo", source="DOID:9461"} @@ -84491,6 +85100,7 @@ synonym: "swimmer's Ear" EXACT [NCIT:C3299] synonym: "swimmer's ear" EXACT [DOID:9463] xref: DOID:9463 {source="MONDO:equivalentTo"} xref: ICD10CM:H60 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1303990434 {source="MONDO:equivalentTo"} xref: ICD9:380.1 {source="DOID:9463"} xref: ICD9:380.10 {source="DOID:9463"} xref: MESH:D010032 {source="MONDO:equivalentTo", source="DOID:9463"} @@ -84613,6 +85223,7 @@ def: "A condition characterized by infiltration of the lung with eosinophils due subset: nord_rare {source="MONDO:NORD"} subset: rare xref: DOID:9498 {source="MONDO:equivalentTo"} +xref: icd11.foundation:544479555 {source="MONDO:equivalentTo"} xref: ICD9:518.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9498"} xref: MESH:D011657 {source="MONDO:equivalentTo", source="DOID:9498"} xref: SCTID:155623005 {source="DOID:9498"} @@ -84910,6 +85521,7 @@ synonym: "Polynesian bronchiectasis" EXACT [DOID:9563] xref: DOID:9563 {source="MONDO:equivalentTo"} xref: ICD10CM:J47 {source="MONDO:equivalentTo", source="DOID:9563"} xref: ICD10CM:J47.9 {source="DOID:9563"} +xref: icd11.foundation:1935524933 {source="MONDO:equivalentTo"} xref: ICD9:494 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9563"} xref: MESH:D001987 {source="MONDO:equivalentTo", source="DOID:9563"} xref: NCIT:C84475 {source="MONDO:equivalentTo", source="DOID:9563"} @@ -85076,6 +85688,7 @@ id: MONDO:0004831 name: proliferative fasciitis def: "A rapidly growing, poorly circumscribed, mass-forming proliferation that arises from the subcutaneous tissues. It is characterized by the presence of spindle-shaped fibroblasts, round ganglion-like cells, myxoid to collagenous stroma formation, and high mitotic activity. It recurs only rarely following local excision and does not metastasize." [NCIT:C4728] xref: DOID:9599 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1032383797 {source="MONDO:equivalentTo"} xref: NCIT:C4728 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:9599"} xref: SCTID:254737002 {source="MONDO:equivalentTo", source="DOID:9599"} xref: SCTID:35548007 {source="DOID:9599"} @@ -85110,6 +85723,7 @@ def: "Inflammation of the thick tissue on the bottom of the foot (plantar fascia xref: DOID:9600 {source="MONDO:equivalentTo"} xref: EFO:1001909 {source="MONDO:equivalentTo"} xref: ICD10CM:M72.2 {source="DOID:9600"} +xref: icd11.foundation:254630809 {source="MONDO:equivalentTo"} xref: MESH:D036981 {source="DOID:9600", source="MONDO:equivalentTo"} xref: SCTID:156725003 {source="DOID:9600"} xref: SCTID:202882003 {source="DOID:9600", source="MONDO:equivalentTo"} @@ -85186,6 +85800,7 @@ name: orthostatic proteinuria synonym: "postural albuminuria" EXACT [DOID:9617] xref: DOID:9617 {source="MONDO:equivalentTo"} xref: ICD10CM:R80.2 {source="DOID:9617"} +xref: icd11.foundation:2144070055 {source="MONDO:equivalentTo"} xref: ICD9:593.6 {source="DOID:9617"} xref: SCTID:155874000 {source="DOID:9617"} xref: SCTID:32482005 {source="DOID:9617"} @@ -85443,6 +86058,7 @@ subset: inferred_rare subset: rare xref: DOID:9697 {source="MONDO:equivalentTo"} xref: ICD10CM:A54.33 {source="MONDO:equivalentTo", source="DOID:9697"} +xref: icd11.foundation:200847304 {source="MONDO:equivalentTo"} xref: ICD9:098.43 {source="DOID:9697"} xref: SCTID:186924001 {source="DOID:9697"} xref: SCTID:40149008 {source="MONDO:equivalentTo", source="DOID:9697"} @@ -85508,6 +86124,7 @@ synonym: "tendon sheath inflammation" EXACT [MONDO:patterns/inflammatory_disease synonym: "Tenosynovitides" EXACT [MESH:D013717] xref: DOID:970 {source="MONDO:equivalentTo"} xref: EFO:1001435 {source="MONDO:equivalentTo"} +xref: icd11.foundation:163006370 {source="MONDO:equivalentTo"} xref: MESH:D013717 {source="MONDO:equivalentTo", source="DOID:970"} xref: SCTID:156666009 {source="DOID:970"} xref: SCTID:240035004 {source="DOID:970"} @@ -85561,6 +86178,7 @@ def: "Blockage of the normal flow of the contents of the gallbladder." [NCIT:P37 synonym: "obstruction of gallbladder" EXACT [DOID:9714, ICD9CM:575.2] xref: DOID:9714 {source="MONDO:equivalentTo"} xref: ICD10CM:K82.0 {source="DOID:9714", source="MONDO:equivalentTo"} +xref: icd11.foundation:1945915335 {source="MONDO:equivalentTo"} xref: ICD9:575.2 {source="DOID:9714"} xref: NCIT:C78308 {source="DOID:9714", source="MONDO:otherHierarchy"} xref: SCTID:197415009 {source="DOID:9714"} @@ -85575,6 +86193,7 @@ id: MONDO:0004859 name: hydrops of gallbladder xref: DOID:9717 {source="MONDO:equivalentTo"} xref: ICD10CM:K82.1 {source="DOID:9717", source="MONDO:equivalentTo"} +xref: icd11.foundation:532595534 {source="MONDO:equivalentTo"} xref: ICD9:575.3 {source="DOID:9717", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:197421008 {source="DOID:9717"} xref: SCTID:47312008 {source="DOID:9717", source="MONDO:equivalentTo"} @@ -85610,6 +86229,7 @@ id: MONDO:0004861 name: ophthalmia nodosa xref: DOID:9722 {source="MONDO:equivalentTo"} xref: ICD10CM:H16.24 {source="DOID:9722"} +xref: icd11.foundation:691596189 {source="MONDO:equivalentTo"} xref: ICD9:360.14 {source="DOID:9722", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:12371008 {source="DOID:9722", source="MONDO:equivalentTo"} xref: UMLS:C0154775 {source="DOID:9722", source="MONDO:equivalentTo"} @@ -85621,6 +86241,7 @@ name: vitreous abscess subset: inferred_rare subset: rare xref: DOID:9723 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1185507932 {source="MONDO:equivalentTo"} xref: ICD9:360.04 {source="DOID:9723", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:48142003 {source="DOID:9723", source="MONDO:equivalentTo"} xref: UMLS:C0042904 {source="DOID:9723", source="MONDO:equivalentTo"} @@ -85637,6 +86258,7 @@ subset: rare xref: DOID:9724 {source="MONDO:equivalentTo"} xref: ICD10CM:H44.0 {source="DOID:9724", source="MONDO:equivalentTo"} xref: ICD10CM:H44.00 {source="DOID:9724"} +xref: icd11.foundation:830703931 {source="MONDO:equivalentTo"} xref: ICD9:360.0 {source="DOID:9724"} xref: ICD9:360.00 {source="DOID:9724", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:193267009 {source="DOID:9724"} @@ -85752,6 +86374,7 @@ synonym: "pelvic region of trunk varicose disease" EXACT [MONDO:patterns/locatio synonym: "varicose disease of pelvic region of trunk" EXACT [MONDO:design_pattern] xref: DOID:9742 {source="MONDO:equivalentTo"} xref: ICD10CM:I86.2 {source="MONDO:equivalentTo", source="DOID:9742"} +xref: icd11.foundation:1717989511 {source="MONDO:equivalentTo"} xref: ICD9:456.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9742"} xref: SCTID:17406005 {source="MONDO:equivalentTo", source="DOID:9742"} xref: SCTID:195481006 {source="DOID:9742"} @@ -85837,6 +86460,7 @@ def: "Cholecystitis that is characterized by nodules containing lipid." [NCIT:P3 subset: rare synonym: "CX" RELATED ABBREVIATION [GARD:0009451] xref: DOID:9766 {source="MONDO:equivalentTo"} +xref: icd11.foundation:294033251 {source="MONDO:equivalentTo"} xref: MESH:C536762 {source="DOID:9766", source="MONDO:equivalentTo"} xref: NCIT:C35792 {source="DOID:9766", source="MONDO:equivalentTo"} xref: SCTID:448286002 {source="DOID:9766", source="MONDO:equivalentTo"} @@ -86106,6 +86730,7 @@ name: hypertropia def: "Vertical strabismus in which there is permanent upward deviation of the visual axis of one eye." [NCIT:P378] xref: DOID:9837 {source="MONDO:equivalentTo"} xref: ICD10CM:H50.2 {source="DOID:9837"} +xref: icd11.foundation:1382376000 {source="MONDO:equivalentTo"} xref: ICD9:378.31 {source="MONDO:equivalentTo", source="DOID:9837", source="MONDO:i2s"} xref: MESH:D013285 {source="DOID:9837"} xref: NCIT:C34716 {source="MONDO:equivalentTo", source="DOID:9837"} @@ -86119,6 +86744,7 @@ id: MONDO:0004894 name: cyclotropia xref: DOID:9838 {source="MONDO:equivalentTo"} xref: ICD10CM:H50.41 {source="DOID:9838"} +xref: icd11.foundation:1259996412 {source="MONDO:equivalentTo"} xref: ICD9:378.33 {source="DOID:9838", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:70486007 {source="DOID:9838", source="MONDO:equivalentTo"} xref: UMLS:C0152209 {source="DOID:9838", source="MONDO:equivalentTo"} @@ -86129,6 +86755,7 @@ id: MONDO:0004895 name: accommodative esotropia xref: DOID:9839 {source="MONDO:equivalentTo"} xref: ICD10CM:H50.43 {source="DOID:9839"} +xref: icd11.foundation:1512812109 {source="MONDO:equivalentTo"} xref: ICD9:378.35 {source="DOID:9839"} xref: SCTID:18369000 {source="DOID:9839"} xref: SCTID:194112008 {source="DOID:9839"} @@ -86146,6 +86773,7 @@ synonym: "internal strabismus" EXACT [DOID:9840, NCIT:C34596] xref: DOID:9840 {source="MONDO:equivalentTo"} xref: ICD10CM:H50.0 {source="DOID:9840"} xref: ICD10CM:H50.00 {source="DOID:9840"} +xref: icd11.foundation:459766644 {source="MONDO:equivalentTo"} xref: ICD9:378.0 {source="DOID:9840"} xref: ICD9:378.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9840"} xref: MESH:D004948 {source="MONDO:equivalentTo", source="DOID:9840"} @@ -86166,6 +86794,7 @@ synonym: "downward ocular deviation" EXACT [NCIT:C42086] synonym: "hypotropia" EXACT [NCIT:C42086] synonym: "sunset sign" EXACT [NCIT:C42086] xref: DOID:9841 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1840811827 {source="MONDO:equivalentTo"} xref: ICD9:378.32 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9841"} xref: NCIT:C42086 {source="MONDO:equivalentTo", source="DOID:9841"} xref: SCTID:29491004 {source="MONDO:equivalentTo", source="DOID:9841"} @@ -86189,6 +86818,7 @@ synonym: "microstrabismus" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:41 synonym: "microtropia" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4102453, SCTID:28633004] xref: DOID:9843 {source="MONDO:equivalentTo"} xref: ICD10CM:H50.42 {source="DOID:9843", source="MONDO:equivalentTo"} +xref: icd11.foundation:1068979205 {source="MONDO:equivalentTo"} xref: ICD9:378.34 {source="DOID:9843", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:14785004 {source="DOID:9843", source="MONDO:equivalentTo"} xref: SCTID:194111001 {source="DOID:9843"} @@ -86263,6 +86893,7 @@ name: toxic maculopathy synonym: "toxic maculopathy of retina" EXACT [DOID:9867, ICD9CM:362.55] xref: DOID:9867 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.38 {source="DOID:9867"} +xref: icd11.foundation:1889317154 {source="MONDO:equivalentTo"} xref: ICD9:362.55 {source="DOID:9867", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:193389005 {source="DOID:9867"} xref: SCTID:44115007 {source="DOID:9867", source="MONDO:equivalentTo"} @@ -86342,6 +86973,7 @@ id: MONDO:0004909 name: urethral gland abscess xref: DOID:9877 {source="MONDO:equivalentTo"} xref: ICD10CM:N34.0 {source="DOID:9877"} +xref: icd11.foundation:2030970195 {source="MONDO:equivalentTo"} xref: ICD9:597.0 {source="DOID:9877"} xref: SCTID:197899005 {source="DOID:9877"} xref: SCTID:197900000 {source="DOID:9877"} @@ -86369,6 +87001,7 @@ synonym: "systolic click-murmur syndrome" RELATED [DOID:988] synonym: "valve, prolapse Of mitral" EXACT [NCIT:C50655] xref: DOID:988 {source="MONDO:equivalentTo"} xref: HP:0001634 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:1085590500 {source="MONDO:equivalentTo"} xref: MESH:D008945 {source="https://orcid.org/0000-0003-1967-3726", source="DOID:988", source="MONDO:equivalentTo"} xref: NCIT:C50655 {source="DOID:988", source="MONDO:equivalentTo"} xref: SCTID:155386005 {source="DOID:988"} @@ -86410,6 +87043,7 @@ id: MONDO:0004913 name: alternating esotropia xref: DOID:9888 {source="MONDO:equivalentTo"} xref: ICD10CM:H50.05 {source="DOID:9888", source="MONDO:equivalentTo"} +xref: icd11.foundation:935468618 {source="MONDO:equivalentTo"} xref: ICD9:378.05 {source="DOID:9888", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:194080005 {source="DOID:9888"} xref: SCTID:39837002 {source="DOID:9888", source="MONDO:equivalentTo"} @@ -86488,6 +87122,7 @@ id: MONDO:0004918 name: central corneal ulcer xref: DOID:9910 {source="MONDO:equivalentTo"} xref: ICD10CM:H16.01 {source="DOID:9910"} +xref: icd11.foundation:457542318 {source="MONDO:equivalentTo"} xref: ICD9:370.03 {source="DOID:9910", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:193761009 {source="DOID:9910"} xref: SCTID:7426009 {source="DOID:9910", source="MONDO:equivalentTo"} @@ -86499,6 +87134,7 @@ id: MONDO:0004919 name: infected hydrocele xref: DOID:9911 {source="MONDO:equivalentTo"} xref: ICD10CM:N43.1 {source="DOID:9911", source="MONDO:equivalentTo"} +xref: icd11.foundation:329423502 {source="MONDO:equivalentTo"} xref: ICD9:603.1 {source="DOID:9911", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:11666007 {source="DOID:9911", source="MONDO:equivalentTo"} xref: UMLS:C0156300 {source="DOID:9911", source="MONDO:equivalentTo"} @@ -86577,6 +87213,7 @@ def: "Chronic form of dacryocystitis." [MONDO:patterns/chronic] synonym: "dacryocystitis, chronic" EXACT [MONDO:patterns/chronic] xref: DOID:9937 {source="MONDO:equivalentTo"} xref: ICD10CM:H04.41 {source="DOID:9937"} +xref: icd11.foundation:617640909 {source="MONDO:equivalentTo"} xref: ICD9:375.42 {source="DOID:9937", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:193990009 {source="DOID:9937"} xref: SCTID:84627005 {source="DOID:9937", source="MONDO:equivalentTo"} @@ -86597,6 +87234,7 @@ synonym: "inflammation of lacrimal sac" EXACT [] synonym: "lacrimal sac inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:9938 {source="MONDO:equivalentTo"} xref: ICD10CM:H04.30 {source="DOID:9938"} +xref: icd11.foundation:1034960983 {source="MONDO:equivalentTo"} xref: ICD9:375.30 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9938"} xref: MESH:D003607 {source="MONDO:equivalentTo", source="DOID:9938"} xref: NCIT:C34521 {source="MONDO:equivalentTo", source="DOID:9938"} @@ -86647,6 +87285,7 @@ id: MONDO:0004929 name: constant exophthalmos xref: DOID:9945 {source="MONDO:equivalentTo"} xref: ICD10CM:H05.24 {source="DOID:9945"} +xref: icd11.foundation:2100094996 {source="MONDO:equivalentTo"} xref: ICD9:376.31 {source="DOID:9945", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:194015008 {source="DOID:9945"} xref: SCTID:89907009 {source="DOID:9945", source="MONDO:equivalentTo"} @@ -86702,6 +87341,7 @@ xref: DOID:9955 {source="MONDO:equivalentTo"} xref: GARD:6739 {source="Orphanet:2248"} xref: ICD10CM:Q23.4 {source="DOID:9955", source="MONDO:equivalentTo", source="Orphanet:2248/e"} xref: icd11.foundation:1811800027 {source="MONDO:equivalentTo", source="Orphanet:2248"} +xref: icd11.foundation:1811800027 {source="MONDO:equivalentTo"} xref: ICD9:746.7 {source="DOID:9955", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10021076 {source="Orphanet:2248/e"} xref: MESH:D018636 {source="DOID:9955", source="MONDO:equivalentTo", source="Orphanet:2248/e"} @@ -86728,6 +87368,7 @@ synonym: "periostitis" EXACT [MONDO:ambiguous] synonym: "periostitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:9957 {source="MONDO:equivalentTo"} xref: HP:0040165 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:505688542 {source="MONDO:equivalentTo"} xref: MESH:D010522 {source="DOID:9957", source="MONDO:equivalentTo"} xref: NCIT:C13184 {source="MONDO:equivalentTo"} xref: SCTID:41910004 {source="DOID:9957", source="MONDO:equivalentTo"} @@ -86772,6 +87413,7 @@ name: hypervitaminosis D synonym: "hypervitaminosis type D" EXACT [DOID:9971, MONDORULE:1] xref: DOID:9971 {source="MONDO:equivalentTo"} xref: ICD10CM:E67.3 {source="MONDO:equivalentTo", source="DOID:9971"} +xref: icd11.foundation:602997191 {source="MONDO:equivalentTo"} xref: ICD9:278.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9971"} xref: SCTID:190969000 {source="DOID:9971"} xref: SCTID:27712000 {source="MONDO:equivalentTo", source="DOID:9971"} @@ -86798,6 +87440,7 @@ name: hallucinogen dependence def: "A drug dependence for a hallucinogenic substance." [NCIT:P378] xref: DOID:9977 {source="MONDO:equivalentTo"} xref: ICD10CM:F16.2 {source="DOID:9977"} +xref: icd11.foundation:2041952725 {source="MONDO:equivalentTo"} xref: ICD9:304.5 {source="DOID:9977"} xref: ICD9:304.50 {source="DOID:9977", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C34657 {source="DOID:9977", source="MONDO:equivalentTo"} @@ -86894,6 +87537,7 @@ synonym: "neurosyphilis" EXACT [NCIT:C84935] synonym: "tertiary neurosyphilis" EXACT [DOID:9988] xref: DOID:9988 {source="MONDO:equivalentTo"} xref: ICD10CM:A52.3 {source="DOID:9988", source="MONDO:equivalentTo"} +xref: icd11.foundation:2118246468 {source="MONDO:equivalentTo"} xref: ICD9:094 {source="DOID:9988"} xref: ICD9:094.89 xref: ICD9:094.9 {source="DOID:9988"} @@ -87312,6 +87956,7 @@ synonym: "mucous carcinoma" EXACT [DOID:3030, NCIT:C26712] synonym: "pseudomyxoma peritonei with unknown primary site" EXACT [DOID:3030] xref: DOID:3030 {source="EFO:0000197", source="MONDO:equivalentTo"} xref: EFO:0000197 {source="MONDO:equivalentTo"} +xref: icd11.foundation:529352875 {source="MONDO:equivalentTo"} xref: ICDO:8480/3 {source="NCIT:C26712"} xref: MESH:D002288 {source="MONDO:equivalentTo", source="DOID:3030"} xref: NCIT:C26712 {source="EFO:0000197", source="MONDO:equivalentTo", source="EFO:1000387", source="DOID:3030"} @@ -87512,6 +88157,7 @@ synonym: "peripheral T-cell lymphoma, NOS" RELATED EXCLUDE [NCIT:C4340] synonym: "peripheral T-cell lymphoma, not otherwise specified" EXACT [NCIT:C4340] synonym: "PTCL" RELATED ABBREVIATION [ONCOTREE:PTCL] xref: EFO:0000211 {source="MONDO:equivalentTo"} +xref: icd11.foundation:855224800 {source="MONDO:equivalentTo"} xref: NCIT:C4340 {source="EFO:0000211", source="MONDO:equivalentTo"} xref: ONCOTREE:PTCL {source="MONDO:equivalentTo"} xref: UMLS:C2853959 {source="NCIT:C4340", source="MONDO:notFoundInDiseaseSubset"} @@ -87538,6 +88184,7 @@ synonym: "carcinoma of acinar cell" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma, acinar cell, malignant" EXACT [NCIT:C3768] xref: DOID:3025 {source="MONDO:equivalentTo", source="EFO:0000216"} xref: EFO:0000216 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1322159869 {source="MONDO:equivalentTo"} xref: ICDO:8550/3 {source="NCIT:C3768"} xref: MESH:D018267 {source="DOID:3025", source="MONDO:equivalentTo", source="EFO:0000216"} xref: NCIT:C3768 {source="DOID:3025", source="MONDO:equivalentTo", source="EFO:0000216"} @@ -87564,6 +88211,7 @@ xref: DOID:4029 {source="MONDO:equivalentTo", source="EFO:0000217"} xref: EFO:0000217 {source="MONDO:equivalentTo"} xref: HP:0005263 {source="MONDO:otherHierarchy"} xref: ICD10CM:K29.7 {source="DOID:4029"} +xref: icd11.foundation:1871672644 {source="MONDO:equivalentTo"} xref: ICD9:535.0 {source="EFO:0000217"} xref: ICD9:535.00 {source="EFO:0000217"} xref: ICD9:535.01 {source="EFO:0000217"} @@ -87727,6 +88375,7 @@ synonym: "cylindroid adenocarcinoma" EXACT [NCIT:C2970] synonym: "cylindroma" RELATED [GARD:0005743] xref: DOID:0080202 {source="MONDO:equivalentTo"} xref: EFO:0000231 {source="MONDO:equivalentTo"} +xref: icd11.foundation:2127202862 {source="MONDO:equivalentTo"} xref: ICDO:8200/3 {source="NCIT:C2970"} xref: MESH:D003528 {source="EFO:0000231", source="DOID:0080202", source="MONDO:equivalentTo"} xref: NCIT:C2970 {source="EFO:0000231", source="DOID:0080202", source="MONDO:equivalentTo"} @@ -87838,6 +88487,7 @@ xref: EFO:0000249 {source="MONDO:equivalentTo", source="DOID:10652"} xref: HP:0002511 {source="MONDO:otherHierarchy"} xref: ICD10CM:G30 {source="MONDO:equivalentTo", source="DOID:10652"} xref: ICD10CM:G30.9 {source="DOID:10652"} +xref: icd11.foundation:1611724421 {source="MONDO:equivalentTo"} xref: ICD9:290.1 {source="EFO:0000249"} xref: ICD9:331.0 {source="EFO:0000249", source="DOID:10652"} xref: MESH:D000544 {source="MONDO:equivalentTo", source="EFO:0000249", source="DOID:10652"} @@ -87882,6 +88532,7 @@ xref: EFO:0000253 {source="MONDO:equivalentTo", source="DOID:332"} xref: GARD:5786 {source="Orphanet:803"} xref: ICD10CM:G12.2 {source="Orphanet:803", source="Orphanet:803/ntbt"} xref: ICD10CM:G12.21 {source="MONDO:equivalentTo", source="DOID:332"} +xref: icd11.foundation:1982355687 {source="MONDO:equivalentTo"} xref: icd11.foundation:1982355687 {source="MONDO:equivalentTo", source="Orphanet:803"} xref: ICD9:335.20 {source="EFO:0000253", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:332"} xref: MedDRA:10002026 {source="Orphanet:803", source="Orphanet:803/e"} @@ -87923,6 +88574,8 @@ xref: EFO:0000255 {source="MONDO:equivalentTo"} xref: GARD:11973 {source="Orphanet:86886"} xref: ICD10CM:C86.5 {source="Orphanet:86886", source="MONDO:equivalentTo", source="Orphanet:86886/e", source="DOID:0111147"} xref: icd11.foundation:1254954229 {source="Orphanet:86886", source="MONDO:equivalentTo"} +xref: icd11.foundation:1254954229 {source="MONDO:equivalentTo"} +xref: icd11.foundation:574202966 {source="MONDO:equivalentTo"} xref: ICD9:202.70 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9705/3 {source="NCIT:C7528"} xref: ICDO:9767/1 {source="NCIT:C7528"} @@ -87965,6 +88618,7 @@ xref: HP:0002099 {source="MONDO:otherHierarchy"} xref: ICD10CM:J45 {source="MONDO:equivalentTo", source="DOID:2841"} xref: ICD10CM:J45.90 {source="DOID:2841"} xref: ICD10CM:J45.909 {source="DOID:2841"} +xref: icd11.foundation:1656445230 {source="MONDO:equivalentTo"} xref: ICD9:493 {source="DOID:2841", source="EFO:0000270"} xref: ICD9:493.81 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:493.9 {source="DOID:2841"} @@ -88003,6 +88657,7 @@ xref: ICD10CM:L20 {source="DOID:3310"} xref: ICD10CM:L20-L30 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:L20.81 {source="DOID:3310"} xref: ICD10CM:L20.9 {source="DOID:3310"} +xref: icd11.foundation:215767047 {source="MONDO:equivalentTo"} xref: ICD9:691 {source="EFO:0000274"} xref: ICD9:691.8 {source="EFO:0000274"} xref: MESH:D003876 {source="DOID:3310", source="EFO:0000274"} @@ -88036,6 +88691,7 @@ xref: DOID:0060224 {source="EFO:0000275", source="MONDO:equivalentTo"} xref: EFO:0000275 {source="MONDO:equivalentTo"} xref: HP:0005110 {source="DOID:0060224", source="MONDO:otherHierarchy"} xref: ICD10CM:I48 {source="DOID:0060224"} +xref: icd11.foundation:171698302 {source="MONDO:equivalentTo"} xref: ICD9:427.31 {source="EFO:0000275", source="DOID:0060224", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D001281 {source="https://orcid.org/0000-0003-1967-3726", source="EFO:0000275", source="DOID:0060224", source="MONDO:equivalentTo"} xref: NCIT:C50466 {source="EFO:0000275", source="DOID:0060224", source="MONDO:equivalentTo"} @@ -88433,6 +89089,7 @@ xref: GARD:20096 {source="Orphanet:167848"} xref: ICD10CM:I42 {source="DOID:0050700", source="MONDO:equivalentTo"} xref: ICD10CM:I42.9 {source="DOID:0050700"} xref: ICD10CM:I51.5 {source="DOID:0050700"} +xref: icd11.foundation:282225286 {source="MONDO:equivalentTo"} xref: ICD9:425 {source="DOID:0050700", source="EFO:0000318"} xref: ICD9:425.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:425.9 {source="DOID:0050700"} @@ -88632,6 +89289,7 @@ synonym: "pulmonary disease (COPD), chronic obstructive" EXACT [NCIT:C3199] xref: DOID:3083 {source="EFO:0000341", source="MONDO:equivalentTo"} xref: EFO:0000341 {source="MONDO:equivalentTo", source="DOID:3083"} xref: ICD10CM:J44.9 {source="DOID:3083"} +xref: icd11.foundation:133207228 {source="MONDO:equivalentTo"} xref: ICD9:490-496.99 {source="EFO:0000341"} xref: ICD9:496 {source="EFO:0000341", source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D029424 {source="EFO:0000341", source="MONDO:equivalentTo", source="DOID:3083"} @@ -88660,6 +89318,7 @@ name: chronic pancreatitis def: "A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus." [NCIT:P378] synonym: "pancreatitis, chronic" EXACT [MONDO:patterns/chronic] xref: EFO:0000342 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1758007371 {source="MONDO:equivalentTo"} xref: ICD9:577.1 {source="EFO:0000342", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D050500 {source="EFO:0000342", source="MONDO:equivalentTo"} xref: NCIT:C84637 {source="EFO:0000342", source="MONDO:equivalentTo"} @@ -88782,6 +89441,7 @@ xref: DOID:4880 {source="EFO:0000350", source="MONDO:equivalentTo"} xref: EFO:0000350 {source="MONDO:equivalentTo"} xref: GARD:21905 {source="Orphanet:457246"} xref: ICD10CM:C64 {source="Orphanet:457246", source="Orphanet:457246/index", source="Orphanet:457246/ntbt"} +xref: icd11.foundation:2075716045 {source="MONDO:equivalentTo"} xref: ICDO:8964/3 {source="NCIT:C4264"} xref: NCIT:C4264 {source="EFO:0000350", source="MONDO:equivalentTo", source="DOID:4880"} xref: ONCOTREE:CCSK {source="MONDO:equivalentTo"} @@ -88874,6 +89534,7 @@ xref: DOID:6000 {source="EFO:0000373", source="MONDO:equivalentTo"} xref: EFO:0000373 {source="MONDO:equivalentTo"} xref: ICD10CM:I50 {source="DOID:6000"} xref: ICD10CM:I50.9 {source="DOID:6000"} +xref: icd11.foundation:2136808878 {source="MONDO:equivalentTo"} xref: ICD9:404.01 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:404.11 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:404.13 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -88985,6 +89646,7 @@ synonym: "regional enteritis" EXACT [NCIT:C2965] xref: DOID:8778 {source="EFO:0000384", source="MONDO:equivalentTo"} xref: EFO:0000384 {source="DOID:8778", source="MONDO:equivalentTo"} xref: ICD10CM:K50.1 {source="DOID:8778"} +xref: icd11.foundation:1267652425 {source="MONDO:equivalentTo"} xref: ICD9:555.1 {source="DOID:8778", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D003424 {source="https://orcid.org/0000-0003-1967-3726", source="DOID:8778", source="EFO:0000384", source="MONDO:equivalentTo"} xref: NCIT:C27837 {source="EFO:0000384"} @@ -89097,6 +89759,7 @@ synonym: "DDCHS" RELATED ABBREVIATION [ONCOTREE:DDCHS] synonym: "Dedifferentiated chondrosarcoma" EXACT [NCIT:C6476] xref: DOID:0081247 {source="MONDO:equivalentTo"} xref: EFO:0000394 {source="MONDO:equivalentTo"} +xref: icd11.foundation:655757397 {source="MONDO:equivalentTo"} xref: ICDO:9243/3 {source="NCIT:C6476"} xref: NCIT:C6476 {source="EFO:0000394", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:DDCHS {source="MONDO:equivalentTo"} @@ -89126,6 +89789,7 @@ xref: EFO:0000400 {source="MONDO:equivalentTo"} xref: HP:0000819 {source="MONDO:otherHierarchy"} xref: ICD10CM:E08-E13 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="DOID:9351", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:E11 {source="DOID:9351"} +xref: icd11.foundation:465177735 {source="MONDO:equivalentTo"} xref: ICD9:250 {source="EFO:0000400", source="DOID:9351"} xref: MESH:D003920 {source="EFO:0000400", source="MONDO:equivalentTo", source="DOID:9351"} xref: NCIT:C2985 {source="EFO:0000400", source="MONDO:equivalentTo", source="DOID:9351"} @@ -89152,6 +89816,7 @@ xref: DOID:12785 {source="EFO:0000401"} xref: EFO:0000401 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: EFO:0004996 {source="MONDO:equivalentTo"} xref: EFO:0004997 {source="MONDO:equivalentTo"} +xref: icd11.foundation:615062102 {source="MONDO:equivalentTo"} xref: ICD9:250.4 {source="EFO:0000401"} xref: ICD9:250.40 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:583.81 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -89295,6 +89960,7 @@ xref: EFO:0000407 {source="DOID:12930", source="MONDO:equivalentTo"} xref: GARD:221 {source="Orphanet:217604"} xref: HP:0001644 {source="MONDO:otherHierarchy", source="EFO:0000407"} xref: ICD10CM:I42.0 {source="DOID:12930", source="Orphanet:217604", source="MONDO:equivalentTo", source="Orphanet:217604/e"} +xref: icd11.foundation:1916294688 {source="MONDO:equivalentTo"} xref: icd11.foundation:1916294688 {source="Orphanet:217604", source="MONDO:equivalentTo"} xref: ICD9:425.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10056370 {source="Orphanet:217604", source="Orphanet:217604/e"} @@ -89527,6 +90193,7 @@ xref: DOID:2224 {source="MONDO:equivalentTo", source="EFO:0000479"} xref: EFO:0000479 {source="MONDO:equivalentTo"} xref: GARD:6594 {source="Orphanet:3318"} xref: ICD10CM:D47.3 {source="DOID:2224", source="Orphanet:3318", source="Orphanet:3318/e"} +xref: icd11.foundation:1735329275 {source="MONDO:equivalentTo"} xref: ICD9:238.71 {source="DOID:2224", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0000479"} xref: ICDO:9962/3 {source="NCIT:C3407"} xref: MedDRA:10015493 {source="Orphanet:3318", source="Orphanet:3318/e"} @@ -89674,6 +90341,7 @@ xref: EFO:0000500 {source="MONDO:equivalentTo"} xref: GARD:20731 {source="Orphanet:251992"} xref: HP:0003005 {source="MONDO:otherHierarchy"} xref: ICD10CM:D36.1 {source="Orphanet:251992", source="Orphanet:251992/ntbt"} +xref: icd11.foundation:1107564829 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9490/0 {source="NCIT:C3049"} xref: MedDRA:10017709 {source="Orphanet:251992", source="Orphanet:251992/e"} @@ -89763,6 +90431,7 @@ xref: DOID:4163 {source="MONDO:equivalentTo", source="EFO:0000502"} xref: EFO:0000502 {source="MONDO:equivalentTo"} xref: GARD:20719 {source="Orphanet:251877"} xref: HP:0006747 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:1916269207 {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9490/3 {source="NCIT:C3790"} xref: MedDRA:10017708 {source="Orphanet:251877/e", source="Orphanet:251877"} @@ -89909,6 +90578,7 @@ xref: HP:0000501 {source="MONDO:otherHierarchy"} xref: ICD10CM:H40 {source="DOID:1686"} xref: ICD10CM:H40-H42 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="DOID:1686", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:H40.9 {source="DOID:1686"} +xref: icd11.foundation:499924848 {source="MONDO:equivalentTo"} xref: ICD9:365 {source="DOID:1686", source="EFO:0000516"} xref: ICD9:365.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:365.9 {source="MONDO:equivalentTo", source="DOID:1686", source="MONDO:i2s"} @@ -90016,6 +90686,7 @@ xref: GARD:20518 {source="Orphanet:217569"} xref: HP:0001639 {source="MONDO:otherHierarchy", source="https://orcid.org/0000-0002-9584-9618"} xref: ICD10CM:I42.1 {source="DOID:11984", source="MONDO:mondoIsBroaderThanSource"} xref: ICD10CM:I42.2 {source="MONDO:relatedTo"} +xref: icd11.foundation:1830681485 {source="MONDO:equivalentTo"} xref: ICD9:425.1 {source="MONDO:mondoIsNarrowerThanSource", source="DOID:11984", source="EFO:0000538", source="https://orcid.org/0000-0002-9584-9618"} xref: ICD9:425.11 {source="DOID:11984"} xref: ICD9:425.4 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -90235,6 +90906,7 @@ xref: DOID:9778 {source="MONDO:equivalentTo", source="EFO:0000555"} xref: EFO:0000555 {source="MONDO:equivalentTo"} xref: ICD10CM:K58 {source="DOID:9778", source="MONDO:equivalentTo"} xref: ICD10CM:K58.9 {source="DOID:9778"} +xref: icd11.foundation:1158238623 {source="MONDO:equivalentTo"} xref: ICD9:564.1 {source="DOID:9778", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0000555"} xref: MESH:D043183 {source="DOID:9778", source="MONDO:equivalentTo", source="EFO:0000555"} xref: NCIT:C82343 {source="DOID:9778", source="MONDO:equivalentTo", source="EFO:0000555"} @@ -90387,6 +91059,7 @@ synonym: "large-cell neuroendocrine carcinoma" EXACT [NCIT:C6875] synonym: "LCNEC" EXACT ABBREVIATION [NCIT:C6875] xref: DOID:0050872 {source="EFO:0000563", source="MONDO:equivalentTo"} xref: EFO:0000563 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1278312485 {source="MONDO:equivalentTo"} xref: ICDO:8013/3 {source="NCIT:C6875"} xref: NCIT:C6875 {source="EFO:0000563", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:LUNE {source="MONDO:equivalentTo"} @@ -91056,6 +91729,7 @@ def: "Increased blood pressure in the portal venous system. It is most commonly xref: DOID:10762 {source="MONDO:equivalentTo", source="EFO:0000666"} xref: EFO:0000666 {source="MONDO:equivalentTo"} xref: ICD10CM:K76.6 {source="MONDO:equivalentTo", source="DOID:10762"} +xref: icd11.foundation:1506184775 {source="MONDO:equivalentTo"} xref: ICD9:572.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0000666", source="DOID:10762"} xref: MESH:D006975 {source="MONDO:equivalentTo", source="EFO:0000666", source="DOID:10762"} xref: NCIT:C3119 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="EFO:0000666", source="MONDO:exact-label-match", source="DOID:10762"} @@ -91157,6 +91831,7 @@ xref: DOID:8893 {source="MONDO:equivalentTo", source="EFO:0000676"} xref: EFO:0000676 {source="MONDO:equivalentTo", source="DOID:8893"} xref: ICD10CM:L40 {source="MONDO:equivalentTo", source="DOID:8893"} xref: ICD10CM:L40.9 {source="DOID:8893"} +xref: icd11.foundation:63698555 {source="MONDO:equivalentTo"} xref: ICD9:696 {source="EFO:0000676"} xref: ICD9:696.1 {source="MONDO:relatedTo", source="MONDO:i2s", source="EFO:0000676"} xref: ICD9:696.5 {source="EFO:0000676"} @@ -91220,6 +91895,7 @@ xref: EFO:0000678 {source="MONDO:equivalentTo"} xref: ICD10CM:H11.0 {source="MONDO:equivalentTo", source="DOID:0002116"} xref: ICD10CM:H11.00 {source="DOID:0002116"} xref: ICD10CM:H11.009 {source="DOID:0002116"} +xref: icd11.foundation:1207385905 {source="MONDO:equivalentTo"} xref: ICD9:372.4 {source="EFO:0000678", source="DOID:0002116"} xref: ICD9:372.40 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:0002116"} xref: MESH:D011625 {source="MONDO:equivalentTo", source="EFO:0000678", source="DOID:0002116"} @@ -91389,6 +92065,7 @@ xref: DOID:5419 {source="EFO:0000692", source="MONDO:equivalentTo"} xref: EFO:0000692 {source="MONDO:equivalentTo", source="DOID:5419"} xref: HP:0100753 {source="MONDO:otherHierarchy", source="DOID:5419"} xref: ICD10CM:F20-F29 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} +xref: icd11.foundation:1683919430 {source="MONDO:equivalentTo"} xref: ICD9:295 {source="EFO:0000692"} xref: ICD9:295.8 {source="EFO:0000692", source="DOID:5419"} xref: ICD9:295.80 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:5419"} @@ -91430,6 +92107,7 @@ xref: EFO:0000694 {source="MONDO:equivalentTo"} xref: GARD:9237 {source="Orphanet:140896"} xref: ICD10CM:J12.81 {source="DOID:2945"} xref: icd11.foundation:652944603 {source="MONDO:equivalentTo", source="Orphanet:140896"} +xref: icd11.foundation:652944603 {source="MONDO:equivalentTo"} xref: ICD9:079.82 {source="EFO:0000694", source="DOID:2945"} xref: MedDRA:10061982 {source="Orphanet:140896/e", source="Orphanet:140896"} xref: MESH:D045169 {source="Orphanet:140896/e", source="EFO:0000694", source="MONDO:equivalentTo", source="DOID:2945", source="Orphanet:140896"} @@ -91460,6 +92138,7 @@ synonym: "signet ring cell carcinoma" EXACT [DOID:3493, NCIT:C3774] synonym: "signet ring cell carcinoma (morphologic abnormality)" EXACT [DOID:3493] xref: DOID:3493 {source="MONDO:equivalentTo", source="EFO:0000698"} xref: EFO:0000698 {source="MONDO:equivalentTo"} +xref: icd11.foundation:465106786 {source="MONDO:equivalentTo"} xref: ICDO:8490/3 {source="NCIT:C3774"} xref: MESH:D018279 {source="MONDO:equivalentTo", source="EFO:0000698", source="DOID:3493"} xref: NCIT:C3774 {source="MONDO:equivalentTo", source="EFO:0000698", source="DOID:3493"} @@ -91712,6 +92391,7 @@ xref: ICD10CM:M34.1 {source="Orphanet:90291/btnt", source="Orphanet:90291"} xref: ICD10CM:M34.2 {source="Orphanet:90291/btnt", source="Orphanet:90291"} xref: ICD10CM:M34.8 {source="Orphanet:90291/btnt", source="Orphanet:90291"} xref: ICD10CM:M34.9 {source="DOID:418", source="Orphanet:90291/btnt", source="Orphanet:90291"} +xref: icd11.foundation:1084365812 {source="MONDO:equivalentTo"} xref: icd11.foundation:1084365812 {source="MONDO:equivalentTo", source="Orphanet:90291"} xref: ICD9:710.1 {source="EFO:0000717", source="MONDO:equivalentTo", source="DOID:418", source="MONDO:i2s"} xref: MedDRA:10042953 {source="Orphanet:90291/e", source="Orphanet:90291"} @@ -91749,6 +92429,7 @@ xref: EFO:0000729 {source="DOID:8577", source="MONDO:equivalentTo"} xref: HP:0100279 {source="MONDO:otherHierarchy"} xref: ICD10CM:K51 {source="DOID:8577"} xref: ICD10CM:K51.9 {source="DOID:8577"} +xref: icd11.foundation:784669405 {source="MONDO:equivalentTo"} xref: ICD9:556 {source="EFO:0000729", source="DOID:8577"} xref: ICD9:556.5 {source="DOID:8577"} xref: ICD9:556.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -91889,6 +92570,7 @@ xref: DOID:3315 {source="MONDO:equivalentTo", source="EFO:0000759"} xref: EFO:0000759 {source="MONDO:equivalentTo"} xref: ICD10CM:D17 {source="DOID:3315"} xref: ICD10CM:D17.9 {source="DOID:3315"} +xref: icd11.foundation:1090000716 {source="MONDO:equivalentTo"} xref: ICD9:214 {source="DOID:3315", source="EFO:0000759"} xref: ICD9:214.9 {source="DOID:3315"} xref: ICDO:8850/0 {source="NCIT:C3192"} @@ -92183,6 +92865,7 @@ xref: GARD:7889 {source="Orphanet:3452"} xref: ICD10CM:K90.81 {source="MONDO:equivalentTo", source="DOID:8476"} xref: ICD10EXP:K90.8+ {source="Orphanet:3452", source="Orphanet:3452/ntbt"} xref: ICD10EXP:M14.8* {source="Orphanet:3452", source="Orphanet:3452/ntbt"} +xref: icd11.foundation:1131038233 {source="MONDO:equivalentTo"} xref: ICD9:040.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0000775", source="DOID:8476"} xref: MedDRA:10047931 {source="Orphanet:3452", source="Orphanet:3452/e"} xref: MESH:C531849 {source="Orphanet:3452", source="Orphanet:3452/e"} @@ -92340,6 +93023,7 @@ xref: ICD10CM:A30.4 {source="Orphanet:548/btnt", source="Orphanet:548"} xref: ICD10CM:A30.5 {source="Orphanet:548/btnt", source="Orphanet:548"} xref: ICD10CM:A30.8 {source="Orphanet:548/btnt", source="Orphanet:548"} xref: ICD10CM:A30.9 {source="Orphanet:548/btnt", source="Orphanet:548", source="DOID:1024"} +xref: icd11.foundation:149072669 {source="MONDO:equivalentTo"} xref: ICD9:030 {source="EFO:0001054", source="DOID:1024"} xref: ICD9:030.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:030.9 {source="DOID:1024", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -92374,6 +93058,7 @@ synonym: "Midborderline leprosy" EXACT [DOID:1023] xref: DOID:1023 {source="EFO:0001055", source="MONDO:equivalentTo"} xref: EFO:0001055 {source="MONDO:equivalentTo"} xref: ICD10CM:A30.3 {source="DOID:1023", source="MONDO:equivalentTo"} +xref: icd11.foundation:56771163 {source="MONDO:equivalentTo"} xref: ICD9:030.3 {source="DOID:1023", source="EFO:0001055"} xref: MESH:D015439 {source="DOID:1023", source="EFO:0001055", source="MONDO:equivalentTo"} xref: SCTID:400008009 {source="DOID:1023", source="EFO:0001055"} @@ -92394,6 +93079,7 @@ synonym: "type T leprosy" EXACT [DOID:1025] xref: DOID:1025 {source="EFO:0001056", source="MONDO:equivalentTo"} xref: EFO:0001056 {source="MONDO:equivalentTo"} xref: ICD10CM:A30.1 {source="DOID:1025", source="MONDO:equivalentTo"} +xref: icd11.foundation:310697776 {source="MONDO:equivalentTo"} xref: ICD9:030.1 {source="EFO:0001056", source="DOID:1025", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D015441 {source="EFO:0001056", source="DOID:1025", source="MONDO:equivalentTo"} xref: SCTID:70143003 {source="EFO:0001056", source="DOID:1025", source="MONDO:equivalentTo"} @@ -92411,6 +93097,7 @@ synonym: "type L leprosy" EXACT [DOID:10887] xref: DOID:10887 {source="EFO:0001057", source="MONDO:equivalentTo"} xref: EFO:0001057 {source="MONDO:equivalentTo"} xref: ICD10CM:A30.5 {source="DOID:10887", source="MONDO:equivalentTo"} +xref: icd11.foundation:365370459 {source="MONDO:equivalentTo"} xref: ICD9:030.0 {source="DOID:10887", source="EFO:0001057", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D015440 {source="DOID:10887", source="EFO:0001057", source="MONDO:equivalentTo"} xref: SCTID:21560005 {source="DOID:10887", source="EFO:0001057", source="MONDO:equivalentTo"} @@ -92445,6 +93132,7 @@ xref: DOID:83 {source="MONDO:equivalentTo", source="EFO:0001059"} xref: EFO:0001059 {source="MONDO:equivalentTo"} xref: HP:0000518 {source="MONDO:otherHierarchy"} xref: ICD10CM:H26 {source="DOID:83"} +xref: icd11.foundation:109841337 {source="MONDO:equivalentTo"} xref: ICD9:366 {source="EFO:0001059"} xref: ICD9:366.44 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:366.8 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:83"} @@ -92568,6 +93256,7 @@ xref: EFO:0001065 {source="MONDO:equivalentTo", source="DOID:289"} xref: HP:0030127 {source="MONDO:otherHierarchy"} xref: ICD10CM:N80 {source="MONDO:equivalentTo", source="DOID:289"} xref: ICD10CM:N80.9 {source="DOID:289"} +xref: icd11.foundation:1838213761 {source="MONDO:equivalentTo"} xref: ICD9:617 {source="EFO:0001065", source="DOID:289"} xref: ICD9:617.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:617.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:289"} @@ -92673,6 +93362,7 @@ xref: ICD10CM:B53.0 {source="MONDO:relatedTo", source="Orphanet:673/btnt"} xref: ICD10CM:B53.1 {source="Orphanet:673/btnt"} xref: ICD10CM:B53.8 {source="Orphanet:673/btnt"} xref: ICD10CM:B54 {source="Orphanet:673/btnt", source="DOID:12365", source="Orphanet:673", source="https://orcid.org/0000-0002-6601-2165"} +xref: icd11.foundation:1439886552 {source="MONDO:equivalentTo"} xref: ICD9:084 {source="EFO:0001068", source="MONDO:equivalentTo", source="DOID:12365"} xref: ICD9:084.6 {source="DOID:12365"} xref: MedDRA:10025487 {source="Orphanet:673/e", source="Orphanet:673"} @@ -92898,6 +93588,7 @@ synonym: "type I diabetes mellitus" EXACT [DOID:9744] xref: DOID:9744 {source="MONDO:equivalentTo", source="EFO:0001359"} xref: EFO:0001359 {source="DOID:9744", source="MONDO:equivalentTo"} xref: ICD10CM:E10 {source="DOID:9744"} +xref: icd11.foundation:1651053999 {source="MONDO:equivalentTo"} xref: MESH:D003922 {source="DOID:9744", source="MONDO:equivalentTo", source="EFO:0001359"} xref: NCIT:C2986 {source="DOID:9744", source="MONDO:equivalentTo", source="EFO:0001359"} xref: OMIM:222100 {source="DOID:9744", source="MONDO:equivalentTo", source="EFO:0001359"} @@ -92959,6 +93650,7 @@ synonym: "type II diabetes mellitus" EXACT [DOID:9352, NCIT:C26747] xref: DOID:9352 {source="MONDO:equivalentTo", source="EFO:0001360"} xref: EFO:0001360 {source="MONDO:equivalentTo", source="DOID:9352"} xref: ICD10CM:E11 {source="DOID:9352"} +xref: icd11.foundation:119724091 {source="MONDO:equivalentTo"} xref: MESH:D003924 {source="MONDO:equivalentTo", source="DOID:9352", source="EFO:0001360"} xref: NCIT:C26747 {source="MONDO:equivalentTo", source="DOID:9352", source="EFO:0001360"} xref: OMIM:125853 {source="MONDO:equivalentTo", source="DOID:9352", source="EFO:0001360"} @@ -92983,6 +93675,7 @@ def: "Increased pressure within the pulmonary circulation due to lung or heart d xref: DOID:6432 {source="EFO:0001361", source="MONDO:equivalentTo"} xref: EFO:0001361 {source="MONDO:equivalentTo"} xref: ICD10CM:I27.2 {source="DOID:6432"} +xref: icd11.foundation:1496633964 {source="MONDO:equivalentTo"} xref: MedDRA:10037400 xref: MESH:D006976 {source="DOID:6432", source="EFO:0001361", source="MONDO:equivalentTo"} xref: NCIT:C3120 {source="DOID:6432", source="EFO:0001361", source="MONDO:otherHierarchy"} @@ -93013,6 +93706,7 @@ xref: DOID:10871 {source="EFO:0001365", source="MONDO:equivalentTo"} xref: DOID:4448 {source="EFO:0001365"} xref: EFO:0001365 {source="MONDO:equivalentTo", source="DOID:10871"} xref: ICD10CM:H35.30 {source="DOID:10871"} +xref: icd11.foundation:1514301548 {source="MONDO:equivalentTo"} xref: ICD9:362.50 {source="DOID:10871"} xref: MESH:D008268 {source="EFO:0001365", source="DOID:10871"} xref: NCIT:C25416 {source="EFO:0001365", source="MONDO:otherHierarchy"} @@ -93087,6 +93781,7 @@ synonym: "pituitary insufficiency" EXACT [DOID:9406] xref: DOID:9406 {source="MONDO:equivalentTo", source="EFO:0001380"} xref: EFO:0001380 {source="MONDO:equivalentTo"} xref: ICD10CM:E23.0 {source="DOID:9406", source="MONDO:equivalentTo"} +xref: icd11.foundation:768216194 {source="MONDO:equivalentTo"} xref: MESH:D007018 {source="DOID:9406", source="MONDO:equivalentTo", source="EFO:0001380"} xref: NCIT:C62591 {source="DOID:9406", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0001380"} xref: Orphanet:95494 {source="MONDO:relatedTo", source="DOID:9406"} @@ -93594,6 +94289,8 @@ xref: DOID:8866 {source="EFO:0002496", source="MONDO:equivalentTo"} xref: EFO:0002496 {source="MONDO:equivalentTo"} xref: HP:0025127 {source="MONDO:otherHierarchy"} xref: ICD10CM:L57.0 {source="DOID:8866", source="MONDO:equivalentTo"} +xref: icd11.foundation:1803982621 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1892986896 {source="MONDO:equivalentTo"} xref: ICD9:702.0 {source="DOID:8866", source="EFO:0002496"} xref: ICD9:702.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D055623 {source="DOID:8866", source="MONDO:equivalentTo"} @@ -93678,6 +94375,7 @@ xref: EFO:0002506 {source="MONDO:equivalentTo", source="DOID:8398"} xref: HP:0002758 {source="MONDO:otherHierarchy", source="EFO:0002506"} xref: ICD10CM:M15-M19 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:M19 {source="MONDO:equivalentTo"} +xref: icd11.foundation:558562409 {source="MONDO:equivalentTo"} xref: ICD9:715.3 {source="DOID:8398"} xref: MESH:D010003 {source="MONDO:equivalentTo", source="EFO:0002506"} xref: NCIT:C3293 {source="MONDO:equivalentTo", source="EFO:0002506"} @@ -93710,6 +94408,7 @@ synonym: "Parkinson's disease" EXACT [DOID:14330, ISBN-13:978-1-259-64403-0] xref: DOID:14330 {source="MONDO:equivalentTo", source="EFO:0002508"} xref: EFO:0002508 {source="MONDO:equivalentTo", source="DOID:14330"} xref: ICD10CM:G20 {source="DOID:14330"} +xref: icd11.foundation:296066191 {source="MONDO:equivalentTo"} xref: ICD9:332 {source="DOID:14330", source="EFO:0002508"} xref: ICD9:332.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14330"} xref: MESH:D010300 {source="MONDO:equivalentTo", source="DOID:14330", source="EFO:0002508"} @@ -93747,6 +94446,7 @@ xref: GARD:4503 {source="Orphanet:520820"} xref: HP:0000590 {source="MONDO:otherHierarchy", source="EFO:0002509"} xref: ICD10CM:H49.4 {source="DOID:12558", source="MONDO:equivalentTo"} xref: icd11.foundation:1698427219 {source="Orphanet:520820", source="MONDO:equivalentTo"} +xref: icd11.foundation:1698427219 {source="MONDO:equivalentTo"} xref: ICD9:378.72 {source="DOID:12558", source="EFO:0002509"} xref: MESH:D017246 {source="DOID:12558", source="MONDO:equivalentTo"} xref: Orphanet:520820 {source="MONDO:equivalentTo"} @@ -93860,6 +94560,7 @@ synonym: "cocaine addiction" EXACT [NCIT:C34492] xref: DOID:9975 {source="MONDO:equivalentTo", source="EFO:0002610"} xref: EFO:0002610 {source="MONDO:equivalentTo"} xref: ICD10CM:F14.2 {source="DOID:9975"} +xref: icd11.foundation:1691013484 {source="MONDO:equivalentTo"} xref: ICD9:304.2 {source="DOID:9975", source="EFO:0002610"} xref: ICD9:304.20 {source="DOID:9975", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D019970 {source="DOID:9975"} @@ -94035,6 +94736,7 @@ id: MONDO:0005195 name: septic peritonitis def: "Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis." [EFO:0002623] xref: EFO:0002623 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1560416608 {source="MONDO:equivalentTo"} xref: PMID:22911262 {source="EFO:0002623"} xref: Wikipedia:Septic_peritonitis {source="EFO:0002623"} is_a: MONDO:0005113 {source="EFO:0002623"} ! bacterial infectious disease @@ -94164,6 +94866,7 @@ xref: DOID:397 {source="EFO:0002630", source="MONDO:equivalentTo"} xref: EFO:0002630 {source="MONDO:equivalentTo"} xref: GARD:20531 {source="Orphanet:217632"} xref: ICD10CM:I42.5 {source="DOID:397"} +xref: icd11.foundation:316495940 {source="MONDO:equivalentTo"} xref: icd11.foundation:316495940 {source="MONDO:equivalentTo", source="Orphanet:217632"} xref: ICD9:425.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10038748 {source="Orphanet:217632/e", source="Orphanet:217632"} @@ -94209,6 +94912,7 @@ def: "An antiphospholipid syndrome that occurs as an isolated disorder." [https: subset: inferred_rare subset: rare xref: EFO:0002689 {source="MONDO:equivalentTo"} +xref: icd11.foundation:85700944 {source="MONDO:equivalentTo"} xref: ICD9:795.79 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016736 {source="EFO:0002689"} xref: NCIT:C61283 {source="EFO:0002689"} @@ -94523,6 +95227,7 @@ subset: inferred_rare subset: rare synonym: "hereditary cardiomyopathy" EXACT [MONDO:patterns/hereditary] xref: EFO:0002945 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1018022925 {source="MONDO:equivalentTo"} xref: ICD9:425.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:35728003 {source="MONDO:equivalentTo", source="EFO:0002945"} xref: UMLS:C0264789 {source="MONDO:equivalentTo"} @@ -94609,6 +95314,7 @@ xref: DOID:4464 {source="EFO:0003016", source="MONDO:equivalentTo"} xref: EFO:0003016 {source="MONDO:equivalentTo"} xref: GARD:9573 {source="Orphanet:247203"} xref: ICD10CM:C64 {source="Orphanet:247203/ntbt", source="Orphanet:247203"} +xref: icd11.foundation:1437194524 {source="MONDO:equivalentTo"} xref: ICDO:8319/3 {source="NCIT:C6194"} xref: MESH:D002292 {source="DOID:4464", source="Orphanet:247203", source="Orphanet:247203/e"} xref: NCIT:C6194 {source="DOID:4464", source="EFO:0003016", source="MONDO:equivalentTo"} @@ -95186,6 +95892,7 @@ xref: EFO:0003106 {source="MONDO:equivalentTo"} xref: ICD10CM:J09-J18 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:J15 {source="MONDO:relatedTo"} xref: ICD10CM:J18.9 {source="MONDO:equivalentTo"} +xref: icd11.foundation:142052508 {source="MONDO:equivalentTo"} xref: ICD9:483 {source="EFO:0003106"} xref: ICD9:483.8 {source="EFO:0003106"} xref: ICD9:484.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -95239,6 +95946,7 @@ synonym: "failure, heart" EXACT [NCIT:C50577] synonym: "heart failure" EXACT [Wikipedia:Heart_failure] synonym: "insufficiency, Cardiac" EXACT [NCIT:C50577] xref: EFO:0003144 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1458683894 {source="MONDO:equivalentTo"} xref: ICD9:428 {source="EFO:0003144"} xref: ICD9:428.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D006333 {source="EFO:0003144", source="MONDO:equivalentTo"} @@ -95304,6 +96012,7 @@ xref: DOID:0060041 {source="MONDO:equivalentTo", source="EFO:0003756"} xref: DOID:0060042 {source="MONDO:relatedTo", source="EFO:0003759"} xref: EFO:0003756 {source="MONDO:equivalentTo"} xref: EFO:0003759 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} +xref: icd11.foundation:437815624 {source="MONDO:equivalentTo"} xref: MESH:D002659 {source="EFO:0003756"} xref: NCIT:C88412 {source="MONDO:equivalentTo", source="EFO:0003756"} xref: Orphanet:106 {source="MONDO:equivalentObsolete"} @@ -95325,6 +96034,7 @@ synonym: "autism spectrum disorder without disorder of intellectual development xref: DOID:0050432 {source="MONDO:equivalentTo", source="EFO:0003757"} xref: EFO:0003757 {source="MONDO:equivalentTo"} xref: ICD10CM:F84.5 {source="DOID:0050432"} +xref: icd11.foundation:366940030 {source="MONDO:equivalentTo"} xref: MESH:D020817 {source="DOID:0050432", source="MONDO:equivalentTo", source="EFO:0003757"} xref: NCIT:C97159 {source="DOID:0050432", source="MONDO:equivalentTo", source="EFO:0003757"} xref: Orphanet:1162 {source="DOID:0050432", source="MONDO:equivalentObsolete"} @@ -95497,6 +96207,7 @@ def: "A chronic, pathological complication associated with diabetes mellitus, wh synonym: "retinal abnormality - diabetes-related" EXACT [DOID:8947] xref: DOID:8947 {source="EFO:0003770", source="MONDO:equivalentTo"} xref: EFO:0003770 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1006882070 {source="MONDO:equivalentTo"} xref: ICD9:362.0 {source="EFO:0003770", source="DOID:8947"} xref: MESH:D003930 {source="EFO:0003770", source="DOID:8947", source="MONDO:equivalentTo"} xref: NCIT:C34538 {source="EFO:0003770", source="DOID:8947", source="MONDO:equivalentTo"} @@ -95658,6 +96369,7 @@ synonym: "refractory anemia" EXACT [NCIT:C2872] xref: EFO:0003802 {source="MONDO:equivalentTo"} xref: GARD:19585 {source="Orphanet:98826"} xref: icd11.foundation:149518956 {source="MONDO:equivalentTo", source="Orphanet:98826", source="https://orcid.org/0000-0001-5208-3432"} +xref: icd11.foundation:2061294245 {source="MONDO:equivalentTo"} xref: ICD9:238.72 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9980/3 {source="NCIT:C2872"} xref: MedDRA:10038269 {source="Orphanet:98826", source="Orphanet:98826/e"} @@ -95729,6 +96441,7 @@ xref: EFO:0003819 {source="DOID:216", source="MONDO:equivalentTo"} xref: ICD10CM:K02 {source="DOID:216", source="MONDO:equivalentTo"} xref: ICD10CM:K02.6 {source="DOID:216"} xref: ICD10CM:K02.9 {source="DOID:216"} +xref: icd11.foundation:1983306720 {source="MONDO:equivalentTo"} xref: ICD9:521.0 {source="EFO:0003819", source="DOID:216", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:521.00 {source="DOID:216", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:521.06 {source="DOID:216"} @@ -95903,6 +96616,7 @@ subset: rare synonym: "lupus erythematosus, cutaneous" RELATED [GARD:0006225] xref: DOID:0050169 {source="MONDO:equivalentTo", source="EFO:0003834"} xref: EFO:0003834 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1401395930 {source="MONDO:equivalentTo"} xref: MESH:D008178 {source="MONDO:equivalentTo", source="EFO:0003834"} xref: NCIT:C26819 {source="MONDO:equivalentTo", source="EFO:0003834"} xref: SCTID:7119001 {source="MONDO:equivalentTo", source="EFO:0003834"} @@ -96262,6 +96976,7 @@ xref: DOID:11476 {source="EFO:0003882", source="MONDO:equivalentTo"} xref: EFO:0003882 {source="MONDO:equivalentTo", source="DOID:11476"} xref: ICD10CM:M81 {source="MONDO:equivalentTo"} xref: ICD10CM:M81.0 {source="DOID:11476"} +xref: icd11.foundation:2113001430 {source="MONDO:equivalentTo"} xref: ICD9:733.0 {source="EFO:0003882", source="DOID:11476"} xref: ICD9:733.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11476"} xref: ICD9:733.09 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -96329,6 +97044,7 @@ xref: DOID:784 {source="EFO:0003884", source="MONDO:equivalentTo"} xref: EFO:0003884 {source="MONDO:equivalentTo", source="DOID:784"} xref: ICD10CM:N17-N19 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:N18.9 {source="MONDO:equivalentTo", source="DOID:784"} +xref: icd11.foundation:412389819 {source="MONDO:equivalentTo"} xref: ICD9:585 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:585.6 {source="EFO:0003884", source="DOID:784"} xref: MESH:D007676 {source="EFO:0003884", source="MONDO:equivalentTo", source="DOID:784"} @@ -96358,6 +97074,7 @@ synonym: "insular sclerosis" RELATED [DOID:2377] xref: DOID:2377 {source="EFO:0003885", source="MONDO:equivalentTo"} xref: EFO:0003885 {source="DOID:2377", source="MONDO:equivalentTo"} xref: ICD10CM:G35 {source="DOID:2377", source="MONDO:equivalentTo"} +xref: icd11.foundation:1298865187 {source="MONDO:equivalentTo"} xref: ICD9:340 {source="EFO:0003885", source="DOID:2377"} xref: MESH:D009103 {source="EFO:0003885", source="DOID:2377", source="MONDO:equivalentTo"} xref: NCIT:C3243 {source="EFO:0003885", source="DOID:2377", source="MONDO:equivalentTo"} @@ -96646,6 +97363,7 @@ synonym: "Relapsing-remitting MS" EXACT [DOID:2378] synonym: "RRMS" EXACT ABBREVIATION [DOID:2378] xref: DOID:2378 {source="EFO:0003929", source="MONDO:equivalentTo"} xref: EFO:0003929 {source="DOID:2378", source="MONDO:equivalentTo"} +xref: icd11.foundation:799053936 {source="MONDO:equivalentTo"} xref: MESH:D020529 {source="EFO:0003929", source="DOID:2378", source="MONDO:equivalentTo"} xref: NCIT:C165675 {source="MONDO:equivalentTo"} xref: SCTID:230372003 {source="EFO:0003929"} @@ -96677,6 +97395,7 @@ def: "Infection caused by bacterial overgrowth in the vagina. Most affected wome synonym: "BV" BROAD ABBREVIATION [NCIT:C116973] xref: DOID:3385 {source="MONDO:equivalentTo", source="EFO:0003932"} xref: EFO:0003932 {source="MONDO:equivalentTo"} +xref: icd11.foundation:63323819 {source="MONDO:equivalentTo"} xref: MESH:D016585 {source="DOID:3385", source="MONDO:equivalentTo", source="EFO:0003932"} xref: NCIT:C116973 {source="DOID:3385", source="MONDO:equivalentTo", source="EFO:0003932"} xref: SCTID:155981006 {source="DOID:3385"} @@ -96835,6 +97554,7 @@ name: sunburn def: "An inflammatory reaction from ultraviolet radiation characterized by transient redness, tenderness and occasional blistering." [NCIT:P378] xref: EFO:0003958 {source="MONDO:equivalentTo"} xref: ICD10CM:L55 {source="MONDO:equivalentTo"} +xref: icd11.foundation:318744822 {source="MONDO:equivalentTo"} xref: ICD9:692.71 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0003958"} xref: MESH:D013471 {source="MONDO:equivalentTo", source="EFO:0003958"} xref: NCIT:C3395 {source="MONDO:otherHierarchy", source="EFO:0003958"} @@ -97007,6 +97727,7 @@ xref: EFO:0004145 {source="MONDO:equivalentTo"} xref: ICD10CM:G72.9 {source="DOID:423"} xref: ICD10CM:M60-M63 {source="DOID:423"} xref: ICD10CM:M62.9 {source="DOID:423"} +xref: icd11.foundation:1870184184 {source="MONDO:equivalentTo"} xref: ICD9:359.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:359.9 {source="DOID:423", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:728.3 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -97097,6 +97818,7 @@ xref: DOID:986 {source="MONDO:equivalentTo", source="EFO:0004192"} xref: EFO:0004192 {source="DOID:986", source="MONDO:equivalentTo"} xref: ICD10CM:L63 {source="DOID:986", source="MONDO:equivalentTo"} xref: ICD10CM:L63.9 {source="DOID:986"} +xref: icd11.foundation:65720611 {source="MONDO:equivalentTo"} xref: ICD9:704.01 {source="DOID:986", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0004192"} xref: MESH:D000506 {source="DOID:986", source="MONDO:equivalentTo", source="EFO:0004192"} xref: SCTID:201131001 {source="DOID:986"} @@ -97251,6 +97973,7 @@ xref: ICD10CM:Q54.3 {source="Orphanet:440/attributed", source="Orphanet:440/ntbt xref: ICD10CM:Q54.4 {source="Orphanet:440/attributed", source="Orphanet:440/ntbt", source="Orphanet:440"} xref: ICD10CM:Q54.8 {source="Orphanet:440/attributed", source="Orphanet:440/ntbt", source="Orphanet:440"} xref: ICD10CM:Q54.9 {source="Orphanet:440/attributed", source="Orphanet:440/ntbt", source="DOID:10892", source="Orphanet:440"} +xref: icd11.foundation:810247271 {source="MONDO:equivalentTo"} xref: ICD9:752.61 {source="EFO:0004209"} xref: MESH:D007021 {source="MONDO:equivalentTo", source="EFO:0004209", source="DOID:10892"} xref: NCIT:C40341 {source="MONDO:equivalentTo", source="EFO:0004209", source="DOID:10892"} @@ -97296,6 +98019,7 @@ id: MONDO:0005348 name: keloid def: "An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively." [NCIT:P378] xref: EFO:0004212 {source="MONDO:equivalentTo"} +xref: icd11.foundation:2057714006 {source="MONDO:equivalentTo"} xref: ICD9:701.4 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D007627 {source="EFO:0004212", source="MONDO:equivalentTo"} xref: NCIT:C3145 {source="EFO:0004212", source="MONDO:equivalentTo"} @@ -97318,6 +98042,7 @@ xref: EFO:0004213 {source="MONDO:equivalentTo", source="DOID:12185"} xref: HP:0000362 {source="MONDO:otherHierarchy"} xref: ICD10CM:H80.8 {source="DOID:12185"} xref: ICD10CM:H80.80 {source="DOID:12185"} +xref: icd11.foundation:1242649410 {source="MONDO:equivalentTo"} xref: ICD9:387 {source="EFO:0004213"} xref: ICD9:387.8 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:12185"} xref: ICD9:387.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -97341,6 +98066,7 @@ def: "Enlargement and ballooning of the vessel that supplies arterial blood to t synonym: "aortic aneurysm, familial abdominal 1" NARROW [DOID:7693] xref: DOID:7693 {source="EFO:0004214", source="MONDO:equivalentTo"} xref: EFO:0004214 {source="MONDO:equivalentTo", source="DOID:7693"} +xref: icd11.foundation:1154633768 {source="MONDO:equivalentTo"} xref: MESH:D017544 {source="EFO:0004214", source="MONDO:equivalentTo", source="DOID:7693"} xref: NCIT:C27000 {source="EFO:0004214", source="MONDO:otherHierarchy", source="DOID:7693"} xref: SCTID:155422008 {source="DOID:7693"} @@ -97358,6 +98084,7 @@ xref: DOID:8689 {source="EFO:0004215", source="MONDO:equivalentTo"} xref: EFO:0004215 {source="MONDO:equivalentTo"} xref: ICD10CM:F50.0 {source="DOID:8689", source="MONDO:equivalentTo"} xref: ICD10CM:F50.00 {source="DOID:8689"} +xref: icd11.foundation:263852475 {source="MONDO:equivalentTo"} xref: ICD9:307.1 {source="DOID:8689", source="EFO:0004215", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D000856 {source="DOID:8689", source="EFO:0004215", source="MONDO:equivalentTo"} xref: NCIT:C34387 {source="DOID:8689", source="EFO:0004215", source="MONDO:equivalentTo"} @@ -97665,6 +98392,7 @@ def: "Physical and psychological dependence on the drug heroin." [NCIT:P378] synonym: "Heroin addiction" EXACT [NCIT:C34694] xref: DOID:9976 {source="MONDO:equivalentTo", source="EFO:0004240"} xref: EFO:0004240 {source="MONDO:equivalentTo"} +xref: icd11.foundation:443161089 {source="MONDO:equivalentTo"} xref: MESH:D006556 {source="DOID:9976", source="MONDO:equivalentTo", source="EFO:0004240"} xref: NCIT:C34694 {source="DOID:9976", source="MONDO:equivalentTo", source="EFO:0004240"} xref: SCTID:191817000 {source="DOID:9976"} @@ -97747,6 +98475,7 @@ xref: DOID:12336 {source="EFO:0004248", source="MONDO:equivalentTo"} xref: EFO:0004248 {source="MONDO:equivalentTo"} xref: ICD10CM:N46 {source="DOID:12336", source="MONDO:equivalentTo"} xref: ICD10CM:N46.9 {source="DOID:12336"} +xref: icd11.foundation:753457327 {source="MONDO:equivalentTo"} xref: ICD9:606 {source="DOID:12336", source="EFO:0004248", source="MONDO:equivalentTo"} xref: ICD9:606.9 {source="DOID:12336", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D007248 {source="DOID:12336", source="EFO:0004248", source="MONDO:equivalentTo"} @@ -97879,6 +98608,7 @@ synonym: "syndromes, nephrotic" EXACT [MESH:D009404] xref: DOID:1184 {source="EFO:0004255", source="MONDO:equivalentTo"} xref: EFO:0004255 {source="MONDO:equivalentTo"} xref: ICD10CM:N04 {source="DOID:1184"} +xref: icd11.foundation:1184209951 {source="MONDO:equivalentTo"} xref: ICD9:581 {source="EFO:0004255", source="DOID:1184"} xref: ICD9:581.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D009404 {source="EFO:0004255", source="MONDO:equivalentTo", source="DOID:1184"} @@ -97975,6 +98705,7 @@ xref: ICD10CM:M87.3 {source="Orphanet:399158", source="Orphanet:399158/ntbt"} xref: ICD10CM:M87.8 {source="Orphanet:399158", source="Orphanet:399158/ntbt"} xref: ICD10CM:M87.9 {source="DOID:10159", source="Orphanet:399158", source="Orphanet:399158/ntbt"} xref: icd11.foundation:536467755 {source="Orphanet:399158", source="MONDO:equivalentTo"} +xref: icd11.foundation:536467755 {source="MONDO:equivalentTo"} xref: ICD9:732.3 {source="DOID:10159"} xref: ICD9:733.4 {source="EFO:0004259"} xref: ICD9:733.41 {source="DOID:10159"} @@ -98094,6 +98825,7 @@ def: "An anxiety disorder characterized by multiple unexpected panic attacks wit synonym: "panic anxiety syndrome" EXACT [DOID:594] xref: DOID:594 {source="MONDO:equivalentTo", source="EFO:0004262"} xref: EFO:0004262 {source="MONDO:equivalentTo", source="DOID:594"} +xref: icd11.foundation:56162827 {source="MONDO:equivalentTo"} xref: ICD9:300.01 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D016584 {source="MONDO:equivalentTo", source="DOID:594", source="EFO:0004262"} xref: NCIT:C34890 {source="MONDO:equivalentTo", source="DOID:594", source="EFO:0004262"} @@ -98253,6 +98985,7 @@ xref: EFO:0004267 {source="MONDO:equivalentTo", source="DOID:12236"} xref: GARD:7459 {source="Orphanet:186"} xref: ICD10CM:K74.3 {source="Orphanet:186/e", source="Orphanet:186", source="DOID:12236"} xref: ICD10CM:K74.5 {source="DOID:12236"} +xref: icd11.foundation:649193479 {source="MONDO:equivalentTo"} xref: icd11.foundation:649193479 {source="MONDO:equivalentTo", source="Orphanet:186"} xref: ICD9:571.6 {source="EFO:0004267", source="DOID:12236"} xref: MedDRA:10004661 {source="Orphanet:186/e", source="Orphanet:186"} @@ -98300,6 +99033,7 @@ synonym: "Wittmaack-Ekbom syndrome" EXACT [DOID:0050425] xref: DOID:0050425 {source="MONDO:equivalentTo", source="EFO:0004270"} xref: EFO:0004270 {source="DOID:0050425", source="MONDO:equivalentTo"} xref: ICD10CM:G25.81 {source="DOID:0050425", source="MONDO:equivalentTo"} +xref: icd11.foundation:1254916765 {source="MONDO:equivalentTo"} xref: ICD9:333.94 {source="DOID:0050425", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:333.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D012148 {source="DOID:0050425", source="MONDO:equivalentTo", source="EFO:0004270"} @@ -98320,6 +99054,7 @@ xref: EFO:0004273 {source="MONDO:equivalentTo"} xref: HP:0002650 {source="MONDO:otherHierarchy", source="DOID:0060249"} xref: ICD10CM:M41 {source="MONDO:equivalentTo", source="DOID:0060249"} xref: ICD10CM:M41.9 {source="DOID:0060249"} +xref: icd11.foundation:1925604007 {source="MONDO:equivalentTo"} xref: ICD9:737.43 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D012600 {source="MONDO:equivalentTo", source="DOID:0060249", source="EFO:0004273"} xref: NCIT:C78603 {source="MONDO:equivalentTo", source="DOID:0060249", source="EFO:0004273"} @@ -98344,6 +99079,7 @@ xref: DOID:13189 {source="MONDO:equivalentTo", source="EFO:0004274"} xref: EFO:0004274 {source="MONDO:equivalentTo", source="DOID:13189"} xref: ICD10CM:M10 {source="MONDO:equivalentTo", source="DOID:13189"} xref: ICD10CM:M10.9 {source="DOID:13189"} +xref: icd11.foundation:395622227 {source="MONDO:equivalentTo"} xref: ICD9:274 {source="DOID:13189", source="EFO:0004274"} xref: ICD9:274.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13189"} xref: ICD9:274.00 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13189"} @@ -98407,6 +99143,7 @@ name: thoracic aortic aneurysm def: "An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta." [NCIT:P378] xref: DOID:14004 {source="MONDO:equivalentTo", source="EFO:0004282"} xref: EFO:0004282 {source="MONDO:equivalentTo", source="DOID:14004"} +xref: icd11.foundation:1383534118 {source="MONDO:equivalentTo"} xref: MESH:D017545 {source="MONDO:equivalentTo", source="EFO:0004282", source="DOID:14004"} xref: NCIT:C27001 {source="MONDO:otherHierarchy", source="EFO:0004282", source="DOID:14004"} xref: Orphanet:91387 {source="MONDO:relatedTo", source="DOID:14004"} @@ -98455,6 +99192,7 @@ name: venous thromboembolism def: "Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream." [NCIT:C99537] synonym: "venous thromboembolism" EXACT [NCIT:C99537] xref: EFO:0004286 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1197943614 {source="MONDO:equivalentTo"} xref: MESH:D054556 {source="MONDO:equivalentTo", source="EFO:0004286"} xref: NCIT:C99537 {source="MONDO:equivalentTo", source="EFO:0004286"} xref: UMLS:C1861172 {source="MONDO:equivalentTo", source="NCIT:C99537"} @@ -98722,6 +99460,7 @@ xref: DOID:1724 {source="MONDO:equivalentTo", source="EFO:0004607"} xref: EFO:0004607 {source="MONDO:equivalentTo"} xref: HP:0002588 {source="MONDO:otherHierarchy"} xref: ICD10CM:K26 {source="MONDO:equivalentTo", source="DOID:1724"} +xref: icd11.foundation:553678663 {source="MONDO:equivalentTo"} xref: ICD9:532 {source="DOID:1724", source="EFO:0004607"} xref: MESH:D004381 {source="MONDO:equivalentTo", source="DOID:1724", source="EFO:0004607"} xref: NCIT:C26755 {source="MONDO:equivalentTo", source="DOID:1724", source="EFO:0004607"} @@ -98837,6 +99576,7 @@ synonym: "underactive thyroid" EXACT [NCIT:C26800] xref: DOID:1459 {source="MONDO:equivalentTo", source="EFO:0004705"} xref: EFO:0004705 {source="MONDO:equivalentTo", source="DOID:1459"} xref: ICD10CM:E03.9 {source="DOID:1459"} +xref: icd11.foundation:1722092627 {source="MONDO:equivalentTo"} xref: ICD9:244.9 {source="DOID:1459"} xref: MESH:D007037 {source="MONDO:equivalentTo", source="EFO:0004705", source="DOID:1459"} xref: NCIT:C26800 {source="MONDO:equivalentTo", source="EFO:0004705", source="DOID:1459"} @@ -98980,6 +99720,7 @@ id: MONDO:0005433 name: alcohol withdrawal synonym: "alcohol withdrawal syndrome" EXACT [] xref: EFO:0004777 {source="MONDO:equivalentTo"} +xref: icd11.foundation:998231424 {source="MONDO:equivalentTo"} xref: ICD9:291.81 {source="MONDO:equivalentTo", source="EFO:0004777", source="MONDO:i2s"} xref: SCTID:191480000 {source="MONDO:equivalentTo", source="EFO:0004777"} xref: UMLS:C0236663 {source="MONDO:equivalentTo"} @@ -99132,6 +99873,7 @@ xref: EFO:0004992 {source="MONDO:equivalentTo"} xref: HP:0000388 {source="MONDO:otherHierarchy"} xref: ICD10CM:H66.9 {source="DOID:10754"} xref: ICD10CM:H66.90 {source="DOID:10754"} +xref: icd11.foundation:1079654421 {source="MONDO:equivalentTo"} xref: ICD9:382.9 {source="DOID:10754", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D010033 {source="EFO:0004992", source="DOID:10754", source="MONDO:equivalentTo"} xref: NCIT:C34885 {source="EFO:0004992", source="DOID:10754", source="MONDO:equivalentTo"} @@ -99183,6 +99925,7 @@ synonym: "viscus leishmaniasis" EXACT [MONDO:patterns/location] xref: DOID:9146 {source="MONDO:equivalentTo", source="EFO:0005045"} xref: EFO:0005045 {source="MONDO:equivalentTo"} xref: ICD10CM:B55.0 {source="MONDO:equivalentTo", source="DOID:9146"} +xref: icd11.foundation:1646564717 {source="MONDO:equivalentTo"} xref: ICD9:085.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9146"} xref: MESH:D007898 {source="MONDO:equivalentTo", source="DOID:9146"} xref: NCIT:C34771 {source="MONDO:equivalentTo", source="DOID:9146"} @@ -99208,6 +99951,7 @@ synonym: "zone of skin leishmaniasis" EXACT [MONDO:patterns/location] xref: DOID:9111 {source="EFO:0005046", source="MONDO:equivalentTo"} xref: EFO:0005046 {source="MONDO:equivalentTo"} xref: ICD10CM:B55.1 {source="MONDO:equivalentTo", source="DOID:9111"} +xref: icd11.foundation:124737785 {source="MONDO:equivalentTo"} xref: ICD9:085.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D016773 {source="MONDO:equivalentTo", source="DOID:9111"} xref: NCIT:C34768 {source="EFO:0005046", source="MONDO:equivalentTo", source="DOID:9111"} @@ -99328,6 +100072,7 @@ synonym: "hyperorexia nervosa" EXACT [DOID:12129] xref: DOID:12129 {source="EFO:0005204", source="MONDO:equivalentTo"} xref: EFO:0005204 {source="MONDO:equivalentTo"} xref: ICD10CM:F50.2 {source="DOID:12129", source="MONDO:equivalentTo"} +xref: icd11.foundation:509381842 {source="MONDO:equivalentTo"} xref: ICD9:307.51 {source="EFO:0005204", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D002032 {source="DOID:12129", source="MONDO:directSiblingOf"} xref: MESH:D052018 {source="EFO:0005204", source="MONDO:equivalentTo"} @@ -99646,6 +100391,7 @@ synonym: "orthostatic hypotension" EXACT [MONDO:ambiguous] synonym: "orthostatic hypotension (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: EFO:0005252 {source="MONDO:equivalentTo"} xref: HP:0001278 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:56009591 {source="MONDO:equivalentTo"} xref: ICD9:458.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0005252"} xref: NCIT:C84970 {source="MONDO:otherHierarchy", source="EFO:0005252"} xref: SCTID:28651003 {source="MONDO:equivalentTo", source="EFO:0005252"} @@ -99705,6 +100451,7 @@ xref: EFO:0005295 {source="MONDO:equivalentTo"} xref: HP:0002077 {source="MONDO:otherHierarchy", source="EFO:0005295"} xref: ICD10CM:G43.1 {source="DOID:10024"} xref: ICD10CM:G43.109 {source="DOID:10024"} +xref: icd11.foundation:525744634 {source="MONDO:equivalentTo"} xref: ICD9:346.0 {source="EFO:0005295", source="DOID:10024"} xref: ICD9:346.00 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D020325 {source="MONDO:equivalentTo", source="EFO:0005295", source="DOID:10024"} @@ -99734,6 +100481,7 @@ name: ventricular tachycardia def: "A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)" [NCIT:P378] xref: EFO:0005306 {source="MONDO:equivalentTo"} xref: ICD10CM:I47.2 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1171837620 {source="MONDO:equivalentTo"} xref: MESH:D017180 {source="MONDO:equivalentTo"} xref: NCIT:C50802 {source="EFO:0005306", source="MONDO:equivalentTo"} xref: SCTID:25569003 {source="EFO:0005306", source="MONDO:equivalentTo"} @@ -99917,6 +100665,7 @@ xref: DOID:5418 {source="EFO:0005411", source="MONDO:equivalentTo"} xref: EFO:0005411 {source="MONDO:equivalentTo"} xref: ICD10CM:F25 {source="DOID:5418"} xref: ICD10CM:F25.9 {source="DOID:5418"} +xref: icd11.foundation:106339515 {source="MONDO:equivalentTo"} xref: ICD9:295.7 {source="EFO:0005411", source="DOID:5418"} xref: MESH:D011618 {source="DOID:5418"} xref: NCIT:C94378 {source="EFO:0005411", source="MONDO:equivalentTo", source="DOID:5418"} @@ -99951,6 +100700,7 @@ xref: DOID:4428 {source="EFO:0005424", source="MONDO:equivalentTo"} xref: EFO:0005424 {source="MONDO:equivalentTo"} xref: HP:0010522 {source="MONDO:otherHierarchy"} xref: ICD10CM:F81.0 {source="DOID:4428"} +xref: icd11.foundation:1843588689 {source="MONDO:equivalentTo"} xref: MESH:D004410 {source="https://orcid.org/0000-0003-1967-3726", source="EFO:0005424", source="MONDO:equivalentTo", source="DOID:4428"} xref: NCIT:C96410 {source="EFO:0005424", source="MONDO:equivalentTo", source="DOID:4428"} xref: SCTID:154954003 {source="DOID:4428"} @@ -100144,6 +100894,7 @@ xref: DOID:11976 {source="EFO:0005542", source="MONDO:equivalentTo"} xref: EFO:0005542 {source="MONDO:equivalentTo"} xref: GARD:943 {source="Orphanet:1267"} xref: ICD10CM:A05.1 {source="DOID:11976", source="Orphanet:1267", source="Orphanet:1267/e"} +xref: icd11.foundation:78422942 {source="MONDO:equivalentTo"} xref: icd11.foundation:78422942 {source="Orphanet:1267", source="MONDO:equivalentTo"} xref: MedDRA:10006041 {source="Orphanet:1267", source="Orphanet:1267/e"} xref: MESH:D001906 {source="EFO:0005542", source="DOID:11976", source="Orphanet:1267", source="MONDO:equivalentTo", source="Orphanet:1267/e"} @@ -100336,6 +101087,7 @@ xref: ICD10CM:A36.2 {source="Orphanet:1679", source="Orphanet:1679/btnt"} xref: ICD10CM:A36.3 {source="MONDO:relatedTo", source="Orphanet:1679", source="Orphanet:1679/btnt"} xref: ICD10CM:A36.8 {source="Orphanet:1679", source="Orphanet:1679/btnt"} xref: ICD10CM:A36.9 {source="Orphanet:1679", source="Orphanet:1679/btnt"} +xref: icd11.foundation:508032285 {source="MONDO:equivalentTo"} xref: ICD9:032 {source="EFO:0005549"} xref: ICD9:032.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10013023 {source="Orphanet:1679", source="Orphanet:1679/e"} @@ -100525,6 +101277,7 @@ def: "A mesenchymal tumor composed of fibroblastic and histiocytic cells." [NCIT synonym: "histiocytoma" EXACT [NCIT:C35765] xref: DOID:4231 {source="MONDO:equivalentTo", source="EFO:0005561"} xref: EFO:0005561 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1211753554 {source="MONDO:equivalentTo"} xref: ICDO:8831/0 {source="NCIT:C35765"} xref: MESH:D051642 {source="MONDO:equivalentTo", source="DOID:4231", source="EFO:0005561"} xref: NCIT:C35765 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4231", source="EFO:0005561"} @@ -100970,6 +101723,7 @@ xref: GARD:5144 {source="Orphanet:3299"} xref: ICD10CM:A33 {source="Orphanet:3299", source="Orphanet:3299/btnt"} xref: ICD10CM:A34 {source="Orphanet:3299", source="Orphanet:3299/btnt"} xref: ICD10CM:A35 {source="Orphanet:3299", source="DOID:11338", source="Orphanet:3299/btnt"} +xref: icd11.foundation:1793762788 {source="MONDO:equivalentTo"} xref: ICD9:037 {source="DOID:11338", source="EFO:0005593"} xref: MedDRA:10043376 {source="Orphanet:3299", source="Orphanet:3299/e"} xref: MESH:D013742 {source="Orphanet:3299", source="DOID:11338", source="MONDO:equivalentTo", source="Orphanet:3299/e", source="EFO:0005593"} @@ -101056,6 +101810,7 @@ name: morphine dependence def: "Strong dependence, both physiological and emotional, upon morphine." [MESH:D009021] xref: DOID:2560 {source="EFO:0005612", source="MONDO:equivalentTo"} xref: EFO:0005612 {source="MONDO:equivalentTo"} +xref: icd11.foundation:337142707 {source="MONDO:equivalentTo"} xref: MESH:D009021 {source="DOID:2560", source="EFO:0005612", source="MONDO:equivalentTo"} xref: SCTID:191817000 {source="DOID:2560"} xref: SCTID:231479000 {source="DOID:2560", source="EFO:0005612", source="MONDO:equivalentTo"} @@ -101217,6 +101972,7 @@ xref: EFO:0005649 {source="MONDO:equivalentTo"} xref: HP:0003304 {source="MONDO:otherHierarchy"} xref: ICD10CM:M43.0 {source="DOID:2300"} xref: ICD10CM:M43.00 {source="DOID:2300"} +xref: icd11.foundation:790009325 {source="MONDO:equivalentTo"} xref: MESH:D013169 {source="DOID:2300", source="MONDO:equivalentTo", source="EFO:0005649"} xref: NCIT:C35034 {source="DOID:2300", source="MONDO:equivalentTo", source="EFO:0005649"} xref: SCTID:203688008 {source="DOID:2300"} @@ -101261,6 +102017,7 @@ subset: rare synonym: "autoimmune hepatitis type 1" EXACT [] synonym: "type 1 AIH" EXACT [http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/hepatology/chronic-autoimmune-hepatitis/] xref: GARD:22251 {source="Orphanet:563576"} +xref: icd11.foundation:260422751 {source="MONDO:equivalentTo"} xref: ICD9:571.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:563576 {source="MONDO:equivalentTo"} xref: SCTID:197284004 {source="MONDO:equivalentTo"} @@ -101505,6 +102262,7 @@ synonym: "nephritis, lupus" RELATED [MESH:D008181] synonym: "SLE nephritis" EXACT [NCIT:C34789] xref: DOID:0080162 {source="MONDO:equivalentTo"} xref: EFO:0005761 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1815692673 {source="MONDO:equivalentTo"} xref: MESH:D008181 {source="DOID:0080162", source="EFO:0005761", source="MONDO:equivalentTo"} xref: NCIT:C34789 {source="EFO:0005761", source="MONDO:equivalentTo"} xref: SCTID:68815009 {source="MONDO:equivalentTo"} @@ -102178,6 +102936,7 @@ def: "Recurrent episodes of over-eating." [NCIT:C97162] synonym: "binge eating" EXACT [NCIT:C97162] synonym: "binge eating disorder" EXACT [] xref: EFO:0005924 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1673294767 {source="MONDO:equivalentTo"} xref: MESH:D002032 {source="MONDO:equivalentTo"} xref: NCIT:C97162 {source="MONDO:equivalentTo", source="EFO:0005924"} xref: SCTID:439960005 {source="MONDO:equivalentTo"} @@ -102326,6 +103085,7 @@ def: "A chronic inflammatory process that affects the tissues that surround and synonym: "periodontitis, chronic" EXACT [MONDO:patterns/chronic] xref: EFO:0006343 {source="MONDO:equivalentTo"} xref: ICD10CM:K05.3 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1242548497 {source="MONDO:equivalentTo"} xref: ICD9:523.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0006343"} xref: ICD9:523.40 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D055113 {source="MONDO:equivalentTo", source="EFO:0006343"} @@ -102490,6 +103250,7 @@ synonym: "teratoma of ovary" EXACT [NCIT:C8110] synonym: "teratoma of the ovary" EXACT [NCIT:C8110] xref: DOID:5567 {source="MONDO:equivalentTo", source="EFO:0006463"} xref: EFO:0006463 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1752240825 {source="MONDO:equivalentTo"} xref: NCIT:C8110 {source="DOID:5567", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0006463"} xref: SCTID:716077006 {source="MONDO:equivalentTo"} xref: UMLS:C0280131 {source="NCIT:C8110", source="DOID:5567", source="MONDO:equivalentTo"} @@ -102546,6 +103307,7 @@ synonym: "tubular adenocarcinoma (morphologic abnormality)" EXACT [DOID:4929] synonym: "tubular carcinoma" EXACT [DOID:4929, NCIT:C3682] xref: DOID:4929 {source="EFO:0006500", source="MONDO:equivalentTo"} xref: EFO:0006500 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1595797924 {source="MONDO:equivalentTo"} xref: ICDO:8211/3 {source="NCIT:C65192"} xref: MESH:D000230 {source="DOID:4929"} xref: NCIT:C65192 {source="EFO:0006500", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4929"} @@ -102559,6 +103321,7 @@ name: chronic bronchitis def: "A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath." [NCIT:C26722] synonym: "bronchitis, chronic" EXACT [MONDO:patterns/chronic] xref: EFO:0006505 {source="MONDO:equivalentTo"} +xref: icd11.foundation:290835130 {source="MONDO:equivalentTo"} xref: ICD9:491 {source="EFO:0006505"} xref: ICD9:491.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:491.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -102623,6 +103386,7 @@ id: MONDO:0005610 name: Kashin-Beck disease def: "Disabling osteochondrodysplasia with osteosclerosis, cone-shaped metaphysis, and shortening of the diaphysis. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology." [MESH:D057767] xref: EFO:0006511 {source="MONDO:equivalentTo"} +xref: icd11.foundation:211396970 {source="MONDO:equivalentTo"} xref: ICD9:716.00 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:716.06 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:716.08 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -102830,6 +103594,7 @@ xref: GARD:9564 {source="Orphanet:99745"} xref: ICD10CM:A01.0 {source="Orphanet:99745", source="Orphanet:99745/e", source="DOID:13258"} xref: ICD10CM:A01.00 {source="DOID:13258"} xref: icd11.foundation:1528414070 {source="Orphanet:99745", source="MONDO:equivalentTo"} +xref: icd11.foundation:1528414070 {source="MONDO:equivalentTo"} xref: ICD9:002.0 {source="EFO:0006789", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13258"} xref: MESH:D014435 {source="EFO:0006789", source="MONDO:equivalentTo", source="DOID:13258"} xref: NCIT:C35089 {source="EFO:0006789", source="MONDO:equivalentTo", source="DOID:13258"} @@ -103079,6 +103844,7 @@ xref: EFO:0007126 {source="MONDO:equivalentTo"} xref: GARD:9285 {source="Orphanet:67043"} xref: ICD10EXP:B60.1+ {source="Orphanet:67043/ntbt", source="Orphanet:67043"} xref: ICD10EXP:H19.2* {source="Orphanet:67043/ntbt", source="Orphanet:67043"} +xref: icd11.foundation:49744193 {source="MONDO:equivalentTo"} xref: ICD9:370.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10069408 {source="Orphanet:67043/e", source="Orphanet:67043"} xref: MESH:D015823 {source="EFO:0007126", source="Orphanet:67043/e", source="MONDO:equivalentTo", source="Orphanet:67043"} @@ -103151,6 +103917,7 @@ xref: ICD10CM:A42.2 {source="Orphanet:457095", source="Orphanet:457095/btnt"} xref: ICD10CM:A42.7 {source="Orphanet:457095", source="Orphanet:457095/btnt"} xref: ICD10CM:A42.8 {source="Orphanet:457095", source="Orphanet:457095/btnt"} xref: ICD10CM:A42.9 {source="DOID:8478"} +xref: icd11.foundation:1697630330 {source="MONDO:equivalentTo"} xref: ICD9:039 {source="DOID:8478"} xref: ICD9:039.9 {source="DOID:8478", source="MONDO:directSiblingOf"} xref: MESH:D000196 {source="DOID:8478", source="EFO:0007128", source="MONDO:equivalentTo"} @@ -103232,6 +103999,7 @@ synonym: "adenomyoma (morphologic abnormality)" EXACT [DOID:2609] synonym: "adenomyoma, benign" EXACT [NCIT:C3726] xref: DOID:2609 {source="MONDO:equivalentTo", source="EFO:0007133"} xref: EFO:0007133 {source="MONDO:equivalentTo"} +xref: icd11.foundation:20518834 {source="MONDO:equivalentTo"} xref: ICDO:8932/0 {source="NCIT:C3726"} xref: MESH:D018194 {source="DOID:2609", source="MONDO:equivalentTo", source="EFO:0007133"} xref: NCIT:C3726 {source="DOID:2609", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -103251,6 +104019,7 @@ synonym: "mullerian adenosarcoma" EXACT [DOID:1974, NCIT:C9474] synonym: "Müllerian adenosarcoma" EXACT [NCIT:C9474] xref: DOID:1974 {source="MONDO:equivalentTo", source="EFO:0007134"} xref: EFO:0007134 {source="MONDO:equivalentTo"} +xref: icd11.foundation:878041544 {source="MONDO:equivalentTo"} xref: ICDO:8933/3 {source="NCIT:C9474"} xref: MESH:D018195 {source="MONDO:equivalentTo", source="DOID:1974", source="EFO:0007134"} xref: NCIT:C9474 {source="MONDO:equivalentTo", source="DOID:1974", source="MONDO:exact-label-match"} @@ -103283,6 +104052,7 @@ xref: DOID:4090 {source="EFO:0007136", source="MONDO:equivalentTo"} xref: EFO:0007136 {source="MONDO:equivalentTo"} xref: ICD10CM:R48.1 {source="MONDO:equivalentTo", source="DOID:4090"} xref: ICD10CM:R48.2 {source="DOID:4090", source="MONDO:directSiblingOf"} +xref: icd11.foundation:1315065296 {source="MONDO:equivalentTo"} xref: MESH:D000377 {source="EFO:0007136", source="MONDO:equivalentTo", source="DOID:4090"} xref: MESH:D001072 {source="DOID:4090", source="MONDO:directSiblingOf"} xref: NCIT:C84542 {source="MONDO:equivalentTo", source="DOID:4090"} @@ -103323,6 +104093,7 @@ synonym: "Coma vigilans" EXACT [DOID:4267] synonym: "Coma vigilans (finding)" EXACT [DOID:4267] xref: DOID:4267 {source="EFO:0007138", source="MONDO:equivalentTo"} xref: EFO:0007138 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1448580674 {source="MONDO:equivalentTo"} xref: MESH:D000405 {source="DOID:4267", source="EFO:0007138", source="MONDO:equivalentTo"} xref: SCTID:5124002 {source="DOID:4267"} xref: SCTID:53333005 {source="DOID:4267", source="MONDO:equivalentTo"} @@ -103437,6 +104208,7 @@ xref: ICD10CM:B76.0 {source="Orphanet:78", source="Orphanet:78/btnt", source="DO xref: ICD10CM:B76.1 {source="Orphanet:78", source="Orphanet:78/btnt", source="MONDO:directSiblingOf"} xref: ICD10CM:B76.8 {source="Orphanet:78", source="Orphanet:78/btnt"} xref: ICD10CM:B76.9 {source="Orphanet:78", source="Orphanet:78/btnt"} +xref: icd11.foundation:1542252776 {source="MONDO:equivalentTo"} xref: ICD9:126.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:126.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10002255 {source="Orphanet:78", source="Orphanet:78/e"} @@ -103511,6 +104283,7 @@ synonym: "rheumatic aortic valve regurgitation" EXACT [DOID:57] xref: DOID:57 {source="EFO:0007148", source="MONDO:equivalentTo"} xref: EFO:0007148 {source="MONDO:equivalentTo"} xref: ICD10CM:I06.1 {source="DOID:57", source="MONDO:equivalentTo"} +xref: icd11.foundation:1548485475 {source="MONDO:equivalentTo"} xref: ICD9:395.1 {source="DOID:57", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:396.3 {source="DOID:57"} xref: MESH:D001022 {source="EFO:0007148", source="DOID:57", source="MONDO:equivalentTo"} @@ -103541,6 +104314,7 @@ synonym: "vermiform appendix inflammation" EXACT [MONDO:patterns/inflammatory_di xref: DOID:8337 {source="EFO:0007149", source="MONDO:equivalentTo"} xref: EFO:0007149 {source="MONDO:equivalentTo"} xref: ICD10CM:K37 {source="DOID:8337"} +xref: icd11.foundation:1881255733 {source="MONDO:equivalentTo"} xref: ICD9:540-543.99 {source="DOID:8337"} xref: ICD9:541 {source="DOID:8337"} xref: MESH:D001064 {source="DOID:8337", source="EFO:0007149", source="MONDO:equivalentTo"} @@ -103639,6 +104413,7 @@ xref: DOID:456 {source="MONDO:equivalentTo", source="EFO:0007154"} xref: EFO:0007154 {source="MONDO:equivalentTo"} xref: ICD10CM:B77 {source="DOID:456", source="MONDO:equivalentTo"} xref: ICD10CM:B77.9 {source="DOID:456"} +xref: icd11.foundation:17842540 {source="MONDO:equivalentTo"} xref: ICD9:127.0 {source="DOID:456", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D001196 {source="DOID:456", source="MONDO:equivalentTo", source="EFO:0007154"} xref: NCIT:C128392 {source="MONDO:equivalentTo"} @@ -103711,6 +104486,7 @@ xref: ICD10CM:B44.2 {source="Orphanet:1163/btnt", source="Orphanet:1163"} xref: ICD10CM:B44.7 {source="Orphanet:1163/btnt", source="Orphanet:1163"} xref: ICD10CM:B44.8 {source="Orphanet:1163/btnt", source="Orphanet:1163"} xref: ICD10CM:B44.9 {source="Orphanet:1163/btnt", source="DOID:13564", source="Orphanet:1163"} +xref: icd11.foundation:1913468488 {source="MONDO:equivalentTo"} xref: icd11.foundation:1913468488 {source="MONDO:equivalentTo", source="Orphanet:1163"} xref: ICD9:117.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13564"} xref: MedDRA:10003488 {source="Orphanet:1163/e", source="Orphanet:1163"} @@ -103795,6 +104571,7 @@ xref: EFO:0007162 {source="MONDO:equivalentTo"} xref: GARD:5878 {source="Orphanet:108"} xref: ICD10CM:B60.0 {source="Orphanet:108", source="MONDO:equivalentTo", source="Orphanet:108/e", source="DOID:9643"} xref: icd11.foundation:1947003329 {source="Orphanet:108", source="MONDO:equivalentTo"} +xref: icd11.foundation:1947003329 {source="MONDO:equivalentTo"} xref: ICD9:088.82 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9643"} xref: MedDRA:10003965 {source="Orphanet:108", source="Orphanet:108/e"} xref: MESH:D001404 {source="Orphanet:108", source="MONDO:equivalentTo", source="EFO:0007162", source="Orphanet:108/e", source="DOID:9643"} @@ -103897,6 +104674,7 @@ xref: DOID:11102 {source="MONDO:equivalentTo", source="EFO:0007166"} xref: EFO:0007166 {source="MONDO:equivalentTo"} xref: ICD10CM:A44 {source="MONDO:equivalentTo", source="DOID:11102"} xref: ICD10CM:A44.9 {source="DOID:11102"} +xref: icd11.foundation:1938462328 {source="MONDO:equivalentTo"} xref: ICD9:088.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11102"} xref: MESH:D001474 {source="MONDO:equivalentTo", source="EFO:0007166", source="DOID:11102"} xref: NCIT:C84586 {source="MONDO:equivalentTo", source="DOID:11102"} @@ -104018,6 +104796,7 @@ def: "A superficial mycosis that is caused by Piedraia hortae and is manifested xref: DOID:12711 {source="EFO:0007171", source="MONDO:equivalentTo"} xref: EFO:0007171 {source="MONDO:equivalentTo"} xref: ICD10CM:B36.3 {source="DOID:12711", source="MONDO:equivalentTo"} +xref: icd11.foundation:1990974193 {source="MONDO:equivalentTo"} xref: ICD9:111.3 {source="DOID:12711", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D010854 {source="DOID:12711", source="EFO:0007171"} xref: SCTID:154408001 {source="DOID:12711"} @@ -104085,6 +104864,7 @@ xref: DOID:12663 {source="MONDO:equivalentTo", source="EFO:0007174"} xref: EFO:0007174 {source="MONDO:equivalentTo"} xref: ICD10CM:B40 {source="MONDO:equivalentTo", source="DOID:12663"} xref: ICD10CM:B40.9 {source="DOID:12663"} +xref: icd11.foundation:1968108845 {source="MONDO:equivalentTo"} xref: ICD9:116 {source="DOID:12663"} xref: ICD9:116.0 {source="DOID:12663"} xref: MESH:D001759 {source="MONDO:equivalentTo", source="EFO:0007174", source="DOID:12663"} @@ -104116,6 +104896,7 @@ synonym: "stasis syndrome" EXACT [NCIT:C34431] xref: DOID:10606 {source="MONDO:equivalentTo", source="EFO:0007175"} xref: EFO:0007175 {source="MONDO:equivalentTo"} xref: ICD10CM:K90.2 {source="DOID:10606"} +xref: icd11.foundation:1719064637 {source="MONDO:equivalentTo"} xref: ICD9:579.2 {source="DOID:10606"} xref: MESH:D001765 {source="MONDO:equivalentTo", source="DOID:10606", source="EFO:0007175"} xref: NCIT:C34431 {source="MONDO:equivalentTo", source="DOID:10606"} @@ -104284,6 +105065,7 @@ synonym: "lobular pneumonia" EXACT [DOID:12375] xref: DOID:12375 {source="MONDO:equivalentTo", source="EFO:0007184"} xref: EFO:0007184 {source="MONDO:equivalentTo"} xref: ICD10CM:J18.0 {source="DOID:12375"} +xref: icd11.foundation:57624587 {source="MONDO:equivalentTo"} xref: ICD9:485 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12375"} xref: MESH:D001996 {source="MONDO:equivalentTo", source="EFO:0007184", source="DOID:12375"} xref: NCIT:C26710 {source="MONDO:equivalentTo", source="DOID:12375"} @@ -104324,6 +105106,7 @@ xref: ICD10CM:A23.3 {source="Orphanet:1304", source="Orphanet:1304/btnt"} xref: ICD10CM:A23.8 {source="Orphanet:1304", source="Orphanet:1304/btnt"} xref: ICD10CM:A23.9 {source="Orphanet:1304", source="DOID:11077", source="Orphanet:1304/btnt"} xref: icd11.foundation:730510331 {source="MONDO:equivalentTo", source="Orphanet:1304"} +xref: icd11.foundation:730510331 {source="MONDO:equivalentTo"} xref: ICD9:023 {source="DOID:11077"} xref: ICD9:023.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11077"} xref: MedDRA:10006500 {source="Orphanet:1304", source="Orphanet:1304/e"} @@ -104406,6 +105189,7 @@ name: campylobacteriosis def: "Infections with bacteria of the genus campylobacter." [MESH:D002169] xref: DOID:13622 {source="EFO:0007190", source="MONDO:equivalentTo"} xref: EFO:0007190 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1012026026 {source="MONDO:equivalentTo"} xref: MESH:D002169 {source="EFO:0007190", source="MONDO:equivalentTo", source="DOID:13622"} xref: SCTID:86500004 {source="MONDO:equivalentTo", source="DOID:13622"} xref: UMLS:C0006818 {source="MONDO:equivalentTo", source="DOID:13622"} @@ -104431,6 +105215,7 @@ xref: EFO:0007191 {source="MONDO:equivalentTo"} xref: ICD10CM:F12 {source="DOID:9505"} xref: ICD10CM:F12.1 {source="DOID:9505"} xref: ICD10CM:F12.2 {source="DOID:1849"} +xref: icd11.foundation:1129015467 {source="MONDO:equivalentTo"} xref: ICD9:304.3 {source="EFO:0004218", source="DOID:1849"} xref: ICD9:304.30 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:305.2 {source="DOID:9505", source="EFO:0004218"} @@ -104506,6 +105291,7 @@ xref: DOID:11258 {source="MONDO:equivalentTo", source="EFO:0007195"} xref: EFO:0007195 {source="MONDO:equivalentTo"} xref: GARD:27 {source="Orphanet:50839"} xref: ICD10CM:A28.1 {source="DOID:11258", source="Orphanet:50839/e", source="MONDO:equivalentTo", source="Orphanet:50839"} +xref: icd11.foundation:2003001085 {source="MONDO:equivalentTo"} xref: icd11.foundation:2003001085 {source="MONDO:equivalentTo", source="Orphanet:50839"} xref: ICD9:078.3 {source="DOID:11258", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10007729 {source="Orphanet:50839/e", source="Orphanet:50839"} @@ -104538,6 +105324,7 @@ synonym: "syndromic disease of cauda equina" EXACT [MONDO:design_pattern] xref: DOID:11577 {source="MONDO:equivalentTo", source="EFO:0007196"} xref: EFO:0007196 {source="MONDO:equivalentTo"} xref: ICD10CM:G83.4 {source="DOID:11577", source="MONDO:equivalentTo"} +xref: icd11.foundation:1490265028 {source="MONDO:equivalentTo"} xref: ICD9:344.6 {source="DOID:11577"} xref: MESH:D000077684 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: MESH:D011128 {source="DOID:11577", source="MONDO:relatedTo", source="EFO:0007196"} @@ -104695,6 +105482,7 @@ synonym: "lumpy jaw" RELATED [DOID:12633] xref: DOID:12633 {source="EFO:0007203", source="MONDO:obsolete"} xref: EFO:0007203 {source="MONDO:equivalentTo"} xref: ICD10CM:A42.2 {source="MONDO:equivalentTo"} +xref: icd11.foundation:185601767 {source="MONDO:equivalentTo"} xref: ICD9:039.3 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D000197 {source="EFO:0007203", source="MONDO:equivalentTo"} xref: NCIT:C34351 {source="MONDO:equivalentTo"} @@ -104793,6 +105581,7 @@ synonym: "Oriental liver fluke disease" EXACT [DOID:13767] xref: DOID:13767 {source="MONDO:equivalentTo", source="EFO:0007210"} xref: EFO:0007210 {source="MONDO:equivalentTo"} xref: ICD10CM:B66.1 {source="DOID:13767", source="MONDO:equivalentTo"} +xref: icd11.foundation:918986134 {source="MONDO:equivalentTo"} xref: ICD9:121.1 {source="DOID:13767", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D003003 {source="DOID:13767", source="MONDO:equivalentTo", source="EFO:0007210"} xref: Orphanet:658917 {source="MONDO:equivalentTo"} @@ -104831,6 +105620,7 @@ xref: ICD10CM:B38.4 {source="Orphanet:228123/btnt", source="Orphanet:228123"} xref: ICD10CM:B38.7 {source="Orphanet:228123/btnt", source="Orphanet:228123"} xref: ICD10CM:B38.8 {source="Orphanet:228123/btnt", source="Orphanet:228123"} xref: ICD10CM:B38.9 {source="Orphanet:228123/btnt", source="DOID:13450", source="Orphanet:228123"} +xref: icd11.foundation:132287989 {source="MONDO:equivalentTo"} xref: ICD9:114 {source="DOID:13450"} xref: ICD9:114.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:114.9 {source="DOID:13450"} @@ -104897,6 +105687,7 @@ xref: EFO:0007213 {source="MONDO:equivalentTo"} xref: GARD:19042 {source="Orphanet:83595"} xref: ICD10CM:A93.2 {source="Orphanet:83595/ntbt", source="Orphanet:83595", source="DOID:4885", source="MONDO:equivalentTo"} xref: icd11.foundation:951357413 {source="Orphanet:83595", source="MONDO:equivalentTo"} +xref: icd11.foundation:951357413 {source="MONDO:equivalentTo"} xref: ICD9:066.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10010022 {source="Orphanet:83595", source="Orphanet:83595/e"} xref: MESH:D003121 {source="EFO:0007213", source="Orphanet:83595", source="DOID:4885", source="MONDO:equivalentTo", source="Orphanet:83595/e"} @@ -104986,6 +105777,7 @@ xref: GARD:1481 {source="Orphanet:2140"} xref: ICD10CM:K44 {source="DOID:3827"} xref: ICD10CM:K44.9 {source="DOID:3827"} xref: ICD10CM:Q79.0 {source="Orphanet:2140/e", source="Orphanet:2140"} +xref: icd11.foundation:1414428936 {source="MONDO:equivalentTo"} xref: icd11.foundation:1414428936 {source="MONDO:equivalentTo", source="Orphanet:2140"} xref: MedDRA:10010439 {source="Orphanet:2140/e", source="Orphanet:2140"} xref: MESH:C538080 {source="Orphanet:2140/e", source="Orphanet:2140"} @@ -105027,6 +105819,7 @@ xref: DOID:9649 {source="EFO:0007217", source="MONDO:equivalentTo"} xref: EFO:0007217 {source="MONDO:equivalentTo"} xref: HP:0000639 {source="MONDO:otherHierarchy"} xref: ICD10CM:H55.01 {source="DOID:9649", source="MONDO:equivalentTo"} +xref: icd11.foundation:1626567380 {source="MONDO:equivalentTo"} xref: ICD9:379.51 {source="DOID:9649", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D020417 {source="DOID:9649", source="EFO:0007217", source="MONDO:equivalentTo"} xref: OMIMPS:310700 {source="MONDO:equivalentTo"} @@ -105068,6 +105861,7 @@ xref: GARD:22036 {source="Orphanet:499009"} xref: ICD10CM:A50 {source="DOID:9856", source="MONDO:equivalentTo"} xref: ICD10CM:A50.9 {source="DOID:9856"} xref: icd11.foundation:587996426 {source="MONDO:equivalentTo", source="Orphanet:499009"} +xref: icd11.foundation:587996426 {source="MONDO:equivalentTo"} xref: ICD9:090 {source="DOID:9856"} xref: ICD9:090.9 {source="DOID:9856", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D013590 {source="DOID:9856", source="MONDO:equivalentTo", source="EFO:0007219"} @@ -105106,6 +105900,7 @@ xref: EFO:0007220 {source="MONDO:equivalentTo"} xref: GARD:18708 {source="Orphanet:858"} xref: ICD10CM:P37.1 {source="MONDO:equivalentTo", source="Orphanet:858", source="Orphanet:858/e", source="DOID:13336"} xref: icd11.foundation:1194018225 {source="MONDO:equivalentTo", source="Orphanet:858"} +xref: icd11.foundation:1194018225 {source="MONDO:equivalentTo"} xref: ICD9:771.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10010652 {source="Orphanet:858", source="Orphanet:858/e"} xref: MESH:D014125 {source="MONDO:equivalentTo", source="Orphanet:858", source="Orphanet:858/e", source="EFO:0007220", source="DOID:13336"} @@ -105189,6 +105984,7 @@ synonym: "yaba" EXACT [DOID:8956] xref: DOID:8956 {source="EFO:0007225", source="MONDO:equivalentTo"} xref: EFO:0007225 {source="MONDO:equivalentTo"} xref: ICD10CM:B08.010 {source="DOID:8956", source="MONDO:equivalentTo"} +xref: icd11.foundation:1205745537 {source="MONDO:equivalentTo"} xref: ICD9:051.01 {source="DOID:8956"} xref: MESH:D015605 {source="EFO:0007225", source="DOID:8956", source="MONDO:equivalentTo"} xref: SCTID:154344005 {source="DOID:8956"} @@ -105288,6 +106084,7 @@ xref: ICD10CM:B45.3 {source="Orphanet:1546", source="Orphanet:1546/btnt"} xref: ICD10CM:B45.7 {source="Orphanet:1546", source="Orphanet:1546/btnt"} xref: ICD10CM:B45.8 {source="Orphanet:1546", source="Orphanet:1546/btnt"} xref: ICD10CM:B45.9 {source="DOID:12053", source="Orphanet:1546", source="Orphanet:1546/btnt"} +xref: icd11.foundation:390527954 {source="MONDO:equivalentTo"} xref: ICD9:117.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12053"} xref: MedDRA:10011490 {source="Orphanet:1546", source="Orphanet:1546/e"} xref: MESH:D003453 {source="EFO:0007229", source="MONDO:equivalentTo", source="DOID:12053", source="Orphanet:1546", source="Orphanet:1546/e"} @@ -105335,6 +106132,7 @@ xref: EFO:0007230 {source="MONDO:equivalentTo"} xref: GARD:9528 {source="Orphanet:210"} xref: ICD10CM:A07.3 {source="Orphanet:210/ntbt", source="Orphanet:210", source="MONDO:directSiblingOf"} xref: ICD10CM:A07.4 {source="MONDO:equivalentTo", source="DOID:12750"} +xref: icd11.foundation:833744511 {source="MONDO:equivalentTo"} xref: ICD9:007.5 {source="DOID:12750"} xref: MESH:D021866 {source="MONDO:equivalentTo", source="EFO:0007230", source="DOID:12750"} xref: NCIT:C128409 {source="MONDO:equivalentTo"} @@ -105398,6 +106196,7 @@ synonym: "disease due to Dicrocoeliidae" EXACT [DOID:1219] xref: DOID:1219 {source="MONDO:equivalentTo", source="EFO:0007234"} xref: EFO:0007234 {source="MONDO:equivalentTo"} xref: ICD10CM:B66.2 {source="DOID:1219"} +xref: icd11.foundation:1114361195 {source="MONDO:equivalentTo"} xref: ICD9:121.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D004011 {source="MONDO:equivalentTo", source="DOID:1219", source="EFO:0007234"} xref: SCTID:105668007 {source="MONDO:equivalentTo"} @@ -105517,6 +106316,7 @@ xref: DOID:10841 {source="MONDO:equivalentTo", source="EFO:0007242"} xref: EFO:0007242 {source="MONDO:equivalentTo"} xref: GARD:10821 {source="Orphanet:83594"} xref: ICD10CM:A83.2 {source="DOID:10841", source="Orphanet:83594", source="Orphanet:83594/ntbt", source="MONDO:equivalentTo"} +xref: icd11.foundation:682536148 {source="MONDO:equivalentTo"} xref: icd11.foundation:682536148 {source="Orphanet:83594", source="MONDO:equivalentTo"} xref: ICD9:062.2 {source="DOID:10841"} xref: MedDRA:10014587 {source="Orphanet:83594", source="Orphanet:83594/e"} @@ -105594,6 +106394,7 @@ xref: DOID:1496 {source="MONDO:equivalentTo", source="EFO:0007245"} xref: EFO:0007245 {source="MONDO:equivalentTo"} xref: ICD10CM:B67 {source="DOID:1496", source="MONDO:equivalentTo"} xref: ICD10CM:B67.90 {source="DOID:1496"} +xref: icd11.foundation:1456802165 {source="MONDO:equivalentTo"} xref: ICD9:122 {source="DOID:1496"} xref: ICD9:122.9 xref: MESH:D004443 {source="DOID:1496", source="MONDO:equivalentTo", source="EFO:0007245"} @@ -105619,6 +106420,7 @@ synonym: "infection by Echinochasmus" EXACT [DOID:1218] xref: DOID:1218 {source="EFO:0007246", source="MONDO:equivalentTo"} xref: EFO:0007246 {source="MONDO:equivalentTo"} xref: ICD10CM:B66.8 {source="DOID:1218"} +xref: icd11.foundation:342249036 {source="MONDO:equivalentTo"} xref: ICD9:121.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D004451 {source="EFO:0007246", source="MONDO:equivalentTo", source="DOID:1218"} xref: SCTID:36607007 {source="DOID:1218"} @@ -105773,6 +106575,7 @@ synonym: "threadworm infection" EXACT [DOID:7457] xref: DOID:7457 {source="MONDO:equivalentTo", source="EFO:0007254"} xref: EFO:0007254 {source="MONDO:equivalentTo"} xref: ICD10CM:B80 {source="DOID:7457", source="MONDO:equivalentTo"} +xref: icd11.foundation:580098307 {source="MONDO:equivalentTo"} xref: ICD9:127.4 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D010123 {source="DOID:7457", source="EFO:0007254"} xref: MESH:D017229 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} @@ -106145,6 +106948,8 @@ xref: DOID:6262 {source="MONDO:equivalentTo", source="EFO:0007276"} xref: EFO:0007276 {source="MONDO:equivalentTo"} xref: GARD:19081 {source="Orphanet:86902"} xref: ICD10CM:C96.4 {source="Orphanet:86902", source="DOID:6262", source="Orphanet:86902/ntbt"} +xref: icd11.foundation:149373156 {source="MONDO:equivalentTo"} +xref: icd11.foundation:15445528 {source="MONDO:equivalentTo"} xref: icd11.foundation:15445528 {source="MONDO:equivalentTo", source="Orphanet:86902"} xref: ICDO:9758/1 {source="NCIT:C9281"} xref: ICDO:9758/3 {source="NCIT:C9281"} @@ -106168,6 +106973,7 @@ name: foot and mouth disease def: "A viral infectious disease that results in infection in cattle and swine, has material basis in foot-and-mouth disease virus, which is transmitted by contaminated fomites, or transmitted by ingestion of food contaminated with infected meat or animal products. The infection results in formation of vesicles in the mouth, or on the feet and has symptom lameness." [EFO:0007277] xref: DOID:11261 {source="MONDO:obsolete", source="EFO:0007277"} xref: EFO:0007277 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1008730501 {source="MONDO:equivalentTo"} xref: MESH:D005536 {source="MONDO:equivalentTo", source="EFO:0007277"} xref: UMLS:C0016514 {source="MONDO:equivalentTo"} is_a: MONDO:0005583 {source="EFO:0007277", source="MESH:D005536"} ! non-human animal disease @@ -106217,6 +107023,7 @@ synonym: "myonecrosis" EXACT [DOID:9159] xref: DOID:9159 {source="EFO:0007279", source="MONDO:equivalentTo"} xref: EFO:0007279 {source="MONDO:equivalentTo"} xref: ICD10CM:A48.0 {source="MONDO:equivalentTo", source="DOID:9159"} +xref: icd11.foundation:1920227791 {source="MONDO:equivalentTo"} xref: ICD9:040.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9159"} xref: MESH:D005738 {source="EFO:0007279", source="MONDO:equivalentTo", source="DOID:9159"} xref: SCTID:186407003 {source="DOID:9159"} @@ -106358,6 +107165,7 @@ synonym: "Pityriasis linguae" EXACT [DOID:1455] xref: DOID:1455 {source="MONDO:equivalentTo", source="EFO:0007283"} xref: EFO:0007283 {source="MONDO:equivalentTo"} xref: ICD10CM:K14.1 {source="MONDO:equivalentTo", source="DOID:1455"} +xref: icd11.foundation:1460387786 {source="MONDO:equivalentTo"} xref: ICD9:529.1 {source="MONDO:equivalentTo", source="DOID:1455", source="MONDO:i2s"} xref: MESH:D005929 {source="DOID:1455", source="EFO:0007283"} xref: NCIT:C84588 {source="MONDO:equivalentTo", source="DOID:1455"} @@ -106374,6 +107182,7 @@ def: "Infection due to the fungus Geotrichum." [MESH:D005847] xref: DOID:2832 {source="MONDO:equivalentTo", source="EFO:0007284"} xref: EFO:0007284 {source="MONDO:equivalentTo"} xref: ICD10CM:B48.3 {source="MONDO:equivalentTo", source="DOID:2832"} +xref: icd11.foundation:1432903072 {source="MONDO:equivalentTo"} xref: ICD9:117.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D005847 {source="MONDO:equivalentTo", source="DOID:2832", source="EFO:0007284"} xref: SCTID:13969006 {source="MONDO:equivalentTo", source="DOID:2832"} @@ -106403,6 +107212,7 @@ xref: EFO:0007285 {source="MONDO:equivalentTo"} xref: GARD:8660 {source="Orphanet:221117"} xref: ICD10CM:F81.2 {source="Orphanet:221117", source="Orphanet:221117/ntbt"} xref: icd11.foundation:1121787098 {source="MONDO:equivalentTo", source="Orphanet:221117"} +xref: icd11.foundation:1121787098 {source="MONDO:equivalentTo"} xref: ICD9:784.69 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10048608 {source="Orphanet:221117", source="DOID:4969", source="Orphanet:221117/e"} xref: MESH:D005862 {source="MONDO:equivalentTo", source="Orphanet:221117", source="DOID:4969", source="EFO:0007285", source="Orphanet:221117/e"} @@ -106429,6 +107239,7 @@ synonym: "infection due to Pseudomonas mallei" EXACT [DOID:13444] xref: DOID:13444 {source="MONDO:equivalentTo", source="EFO:0007286"} xref: EFO:0007286 {source="MONDO:equivalentTo"} xref: ICD10CM:A24.0 {source="MONDO:equivalentTo", source="DOID:13444"} +xref: icd11.foundation:1563156715 {source="MONDO:equivalentTo"} xref: ICD9:024 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13444"} xref: MESH:D005896 {source="MONDO:equivalentTo", source="DOID:13444", source="EFO:0007286"} xref: NCIT:C34638 {source="MONDO:equivalentTo", source="DOID:13444"} @@ -106501,6 +107312,7 @@ synonym: "pudendal ulcer" EXACT [DOID:9113] xref: DOID:9113 {source="MONDO:equivalentTo", source="EFO:0007291"} xref: EFO:0007291 {source="MONDO:equivalentTo"} xref: ICD10CM:A58 {source="MONDO:equivalentTo", source="DOID:9113"} +xref: icd11.foundation:764124124 {source="MONDO:equivalentTo"} xref: ICD9:099.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9113"} xref: MESH:D006100 {source="MONDO:equivalentTo", source="EFO:0007291", source="DOID:9113"} xref: NCIT:C3065 {source="MONDO:equivalentTo", source="DOID:9113"} @@ -106922,6 +107734,7 @@ synonym: "Stye" EXACT [DOID:9909, NCIT:C118722] xref: DOID:9909 {source="EFO:0007315", source="MONDO:equivalentTo"} xref: EFO:0007315 {source="MONDO:equivalentTo"} xref: ICD10CM:H00.01 {source="DOID:9909"} +xref: icd11.foundation:1259721857 {source="MONDO:equivalentTo"} xref: MESH:D006726 {source="EFO:0007315", source="MONDO:equivalentTo", source="DOID:9909"} xref: NCIT:C118722 {source="MONDO:equivalentTo", source="DOID:9909"} xref: SCTID:1489008 {source="DOID:9909"} @@ -106976,6 +107789,7 @@ xref: DOID:10074 {source="EFO:0007317", source="MONDO:equivalentTo"} xref: EFO:0007317 {source="MONDO:equivalentTo"} xref: GARD:2787 {source="Orphanet:401"} xref: ICD10CM:B71.0 {source="Orphanet:401", source="MONDO:equivalentTo", source="Orphanet:401/e", source="DOID:10074"} +xref: icd11.foundation:2028864113 {source="MONDO:equivalentTo"} xref: icd11.foundation:2028864113 {source="Orphanet:401", source="MONDO:equivalentTo"} xref: ICD9:123.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10074"} xref: MedDRA:10020546 {source="Orphanet:401", source="Orphanet:401/e"} @@ -107207,6 +108021,7 @@ xref: EFO:0007326 {source="MONDO:equivalentTo"} xref: ICD10CM:B27 {source="DOID:8568"} xref: ICD10CM:B27.0 {source="DOID:8568"} xref: ICD10CM:B27.9 {source="DOID:8568"} +xref: icd11.foundation:760139952 {source="MONDO:equivalentTo"} xref: ICD9:075 {source="DOID:8568"} xref: MESH:D007244 {source="EFO:0007326", source="DOID:8568", source="MONDO:equivalentTo"} xref: NCIT:C34726 {source="DOID:8568", source="MONDO:equivalentTo"} @@ -107253,6 +108068,7 @@ xref: EFO:0007328 {source="MONDO:equivalentTo", source="MONDO:preferredExternal" xref: EFO:0007411 {source="MONDO:equivalentTo"} xref: ICD10CM:J09-J18 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:J11.1 {source="DOID:8469"} +xref: icd11.foundation:145723401 {source="MONDO:equivalentTo"} xref: ICD9:487 {source="DOID:8469", source="EFO:0001669"} xref: ICD9:487.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D007251 {source="DOID:8469", source="EFO:0007328", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -107289,6 +108105,8 @@ synonym: "interdigitating Dendritic cell sarcoma/tumor" EXACT [NCIT:C9282] xref: DOID:7848 {source="MONDO:equivalentTo", source="EFO:0007329"} xref: EFO:0007329 {source="MONDO:equivalentTo"} xref: ICD10CM:C96.4 {source="DOID:7848"} +xref: icd11.foundation:2024362257 {source="MONDO:equivalentTo"} +xref: icd11.foundation:214592620 {source="MONDO:equivalentTo"} xref: ICDO:9757/1 {source="NCIT:C9282"} xref: ICDO:9757/3 {source="NCIT:C9282"} xref: MESH:D054739 {source="MONDO:equivalentTo", source="EFO:0007329", source="DOID:7848"} @@ -107498,6 +108316,7 @@ xref: EFO:0007338 {source="MONDO:equivalentTo"} xref: GARD:19688 {source="Orphanet:99824"} xref: ICD10CM:A96.2 {source="DOID:9537", source="MONDO:equivalentTo", source="Orphanet:99824", source="Orphanet:99824/e"} xref: icd11.foundation:515020316 {source="MONDO:equivalentTo", source="Orphanet:99824"} +xref: icd11.foundation:515020316 {source="MONDO:equivalentTo"} xref: ICD9:078.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10023927 {source="Orphanet:99824", source="Orphanet:99824/e"} xref: MESH:D007835 {source="DOID:9537", source="EFO:0007338", source="MONDO:equivalentTo", source="Orphanet:99824", source="Orphanet:99824/e"} @@ -107526,6 +108345,7 @@ xref: ICD10CM:A50.4 {source="DOID:10039"} xref: ICD10CM:A50.40 {source="DOID:10039"} xref: ICD10CM:A50.5 {source="DOID:10039"} xref: ICD10CM:A50.59 {source="DOID:10039"} +xref: icd11.foundation:1685932952 {source="MONDO:equivalentTo"} xref: ICD9:090.4 {source="DOID:10039"} xref: ICD9:090.40 {source="DOID:10039"} xref: ICD9:090.5 {source="DOID:10039", source="MONDO:relatedTo", source="MONDO:i2s"} @@ -107574,6 +108394,7 @@ xref: EFO:0007342 {source="MONDO:equivalentTo"} xref: GARD:22419 {source="Orphanet:600832"} xref: GARD:6876 {source="Orphanet:549"} xref: ICD10CM:A48.1 {source="Orphanet:549", source="Orphanet:549/e"} +xref: icd11.foundation:390042715 {source="MONDO:equivalentTo"} xref: icd11.foundation:390042715 {source="Orphanet:600832", source="MONDO:equivalentTo"} xref: icd11.foundation:424434722 {source="MONDO:equivalentTo", source="Orphanet:549", source="https://orcid.org/0000-0001-5208-3432"} xref: MedDRA:10035718 {source="Orphanet:549", source="Orphanet:549/e"} @@ -107666,6 +108487,7 @@ xref: ICD10CM:A27 {source="DOID:2297", source="MONDO:equivalentTo"} xref: ICD10CM:A27.0 {source="DOID:2297", source="Orphanet:509/btnt", source="Orphanet:509"} xref: ICD10CM:A27.8 {source="Orphanet:509/btnt", source="Orphanet:509"} xref: ICD10CM:A27.9 {source="DOID:2297", source="Orphanet:509/btnt", source="Orphanet:509"} +xref: icd11.foundation:751399056 {source="MONDO:equivalentTo"} xref: icd11.foundation:751399056 {source="MONDO:equivalentTo", source="Orphanet:509"} xref: ICD9:100 {source="DOID:2297"} xref: ICD9:100.0 {source="DOID:2297"} @@ -107762,6 +108584,7 @@ xref: ICD10CM:A32.1 {source="Orphanet:533", source="Orphanet:533/btnt"} xref: ICD10CM:A32.7 {source="Orphanet:533", source="Orphanet:533/btnt"} xref: ICD10CM:A32.8 {source="Orphanet:533", source="Orphanet:533/btnt"} xref: ICD10CM:A32.9 {source="Orphanet:533", source="Orphanet:533/btnt", source="DOID:11573"} +xref: icd11.foundation:419706488 {source="MONDO:equivalentTo"} xref: icd11.foundation:419706488 {source="Orphanet:533", source="MONDO:equivalentTo"} xref: ICD9:027.0 {source="DOID:11573"} xref: MedDRA:10024641 {source="Orphanet:533", source="Orphanet:533/e"} @@ -107852,6 +108675,7 @@ synonym: "lymphatic vessel inflammation" EXACT [MONDO:patterns/inflammatory_dise xref: DOID:9317 {source="MONDO:equivalentTo", source="EFO:0007351"} xref: EFO:0007351 {source="MONDO:equivalentTo"} xref: ICD10CM:I89.1 {source="DOID:9317", source="MONDO:equivalentTo"} +xref: icd11.foundation:1548743622 {source="MONDO:equivalentTo"} xref: ICD9:457.2 {source="DOID:9317", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D008205 {source="DOID:9317", source="MONDO:equivalentTo", source="EFO:0007351"} xref: NCIT:C34790 {source="DOID:9317", source="MONDO:equivalentTo"} @@ -108082,6 +108906,7 @@ xref: DOID:1081 {source="EFO:0007357", source="MONDO:equivalentTo"} xref: EFO:0007357 {source="MONDO:equivalentTo"} xref: GARD:8216 {source="Orphanet:2459"} xref: ICD10CM:B74.4 {source="MONDO:equivalentTo", source="Orphanet:2459", source="DOID:1081", source="Orphanet:2459/e"} +xref: icd11.foundation:1504434405 {source="MONDO:equivalentTo"} xref: icd11.foundation:1504434405 {source="MONDO:equivalentTo", source="Orphanet:2459"} xref: MESH:D008368 {source="EFO:0007357", source="MONDO:equivalentTo", source="DOID:1081"} xref: NCIT:C84882 {source="MONDO:equivalentTo", source="DOID:1081"} @@ -108201,6 +109026,7 @@ synonym: "meibomian gland lipogranuloma" EXACT [DOID:9903] xref: DOID:9903 {source="MONDO:equivalentTo", source="EFO:0007363"} xref: EFO:0007363 {source="MONDO:equivalentTo"} xref: ICD10CM:H00.1 {source="MONDO:equivalentTo", source="DOID:9903"} +xref: icd11.foundation:777918741 {source="MONDO:equivalentTo"} xref: ICD9:373.2 {source="MONDO:equivalentTo", source="DOID:9903", source="MONDO:i2s"} xref: MESH:D017043 {source="MONDO:equivalentTo", source="DOID:9903", source="EFO:0007363"} xref: NCIT:C26717 {source="MONDO:equivalentTo", source="DOID:9903"} @@ -108254,6 +109080,7 @@ xref: EFO:0007366 {source="MONDO:equivalentTo"} xref: GARD:3655 {source="Orphanet:2552"} xref: ICD10CM:B60.8 {source="Orphanet:2552/ntbt", source="Orphanet:2552", source="DOID:4271"} xref: icd11.foundation:1021483422 {source="Orphanet:2552", source="MONDO:equivalentTo"} +xref: icd11.foundation:1021483422 {source="MONDO:equivalentTo"} xref: ICD9:117.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10053982 {source="Orphanet:2552", source="Orphanet:2552/e"} xref: MESH:D016881 {source="Orphanet:2552", source="MONDO:equivalentTo", source="Orphanet:2552/e", source="DOID:4271", source="EFO:0007366"} @@ -108300,6 +109127,7 @@ xref: DOID:9861 {source="EFO:0007368", source="MONDO:equivalentTo"} xref: EFO:0007368 {source="MONDO:equivalentTo"} xref: ICD10CM:A19 {source="MONDO:equivalentTo", source="DOID:9861"} xref: ICD10CM:A19.9 {source="DOID:9861"} +xref: icd11.foundation:861638547 {source="MONDO:equivalentTo"} xref: ICD9:018 {source="DOID:9861"} xref: ICD9:018.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:018.9 {source="DOID:9861"} @@ -108380,6 +109208,7 @@ xref: DOID:12889 {source="MONDO:equivalentTo", source="EFO:0007371"} xref: EFO:0007371 {source="MONDO:equivalentTo"} xref: GARD:3668 {source="Orphanet:98919"} xref: ICD10CM:G61.0 {source="DOID:12889", source="Orphanet:98919/ntbt", source="Orphanet:98919"} +xref: icd11.foundation:134795253 {source="MONDO:equivalentTo"} xref: MedDRA:10049567 {source="Orphanet:98919/e", source="Orphanet:98919"} xref: MESH:D019846 {source="DOID:12889", source="Orphanet:98919/e", source="MONDO:equivalentTo", source="EFO:0007371", source="Orphanet:98919"} xref: NCIT:C116958 {source="DOID:12889", source="MONDO:equivalentTo"} @@ -108407,6 +109236,7 @@ synonym: "valve stenoses, mitral" RELATED [MESH:D008946] synonym: "valve stenosis, mitral" RELATED [MESH:D008946] xref: DOID:1754 {source="MONDO:equivalentTo", source="EFO:0007372"} xref: EFO:0007372 {source="MONDO:equivalentTo"} +xref: icd11.foundation:2115139779 {source="MONDO:equivalentTo"} xref: MESH:D008946 {source="MONDO:equivalentTo", source="DOID:1754", source="EFO:0007372"} xref: NCIT:C50654 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:1754"} xref: SCTID:155277002 {source="DOID:1754"} @@ -108471,6 +109301,7 @@ xref: DOID:3492 {source="MONDO:equivalentTo", source="EFO:0007374"} xref: EFO:0007374 {source="MONDO:equivalentTo"} xref: GARD:7051 {source="Orphanet:809"} xref: ICD10CM:M35.1 {source="Orphanet:809/e", source="DOID:3492", source="Orphanet:809"} +xref: icd11.foundation:891652224 {source="MONDO:equivalentTo"} xref: icd11.foundation:891652224 {source="MONDO:equivalentTo", source="Orphanet:809"} xref: MedDRA:10027754 {source="Orphanet:809/e", source="Orphanet:809"} xref: MESH:D008947 {source="Orphanet:809/e", source="MONDO:equivalentTo", source="DOID:3492", source="Orphanet:809", source="EFO:0007374"} @@ -108495,6 +109326,7 @@ def: "A common, benign, usually self-limited viral infection of the skin and occ xref: DOID:8867 {source="MONDO:equivalentTo", source="EFO:0007375"} xref: EFO:0007375 {source="MONDO:equivalentTo"} xref: ICD10CM:B08.1 {source="DOID:8867", source="MONDO:equivalentTo"} +xref: icd11.foundation:82201615 {source="MONDO:equivalentTo"} xref: ICD9:078.0 {source="DOID:8867", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D008976 {source="DOID:8867", source="MONDO:equivalentTo", source="EFO:0007375"} xref: SCTID:154360009 {source="DOID:8867"} @@ -108567,6 +109399,7 @@ synonym: "New World cutaneous leishmaniasis" EXACT [DOID:9155] xref: DOID:9155 {source="EFO:0007379", source="MONDO:equivalentTo"} xref: EFO:0007379 {source="MONDO:equivalentTo"} xref: ICD10CM:B55.2 {source="MONDO:equivalentTo", source="DOID:9155"} +xref: icd11.foundation:1942095878 {source="MONDO:equivalentTo"} xref: ICD9:085.5 {source="DOID:9155"} xref: MESH:D007897 {source="EFO:0007379", source="MONDO:equivalentTo", source="DOID:9155"} xref: NCIT:C34769 {source="MONDO:equivalentTo"} @@ -108761,6 +109594,7 @@ def: "A disorder caused by an infection with hookworms of the genus Necator, whi xref: DOID:2790 {source="MONDO:equivalentTo", source="EFO:0007390"} xref: EFO:0007390 {source="MONDO:equivalentTo"} xref: ICD10CM:B76.1 {source="MONDO:equivalentTo", source="DOID:2790"} +xref: icd11.foundation:652000933 {source="MONDO:equivalentTo"} xref: ICD9:126.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D009332 {source="MONDO:equivalentTo", source="EFO:0007390", source="DOID:2790"} xref: NCIT:C34838 {source="MONDO:equivalentTo", source="DOID:2790"} @@ -108863,6 +109697,7 @@ subset: inferred_rare subset: rare xref: DOID:13722 {source="MONDO:equivalentTo", source="EFO:0007394"} xref: EFO:0007394 {source="MONDO:equivalentTo"} +xref: icd11.foundation:446216876 {source="MONDO:equivalentTo"} xref: MESH:D020818 {source="DOID:13722", source="MONDO:equivalentTo", source="EFO:0007394"} xref: UMLS:C0752191 {source="DOID:13722", source="MONDO:equivalentTo"} is_a: MONDO:0015254 {source="DOID:13722", source="MESH:D020818", source="MONDO:Redundant"} ! schistosomiasis @@ -108956,6 +109791,7 @@ synonym: "Oesophagostomum disease or disorder" EXACT [] synonym: "Oesophagostomum infectious disease" EXACT [] xref: DOID:3983 {source="EFO:0007400", source="MONDO:equivalentTo"} xref: EFO:0007400 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1664841973 {source="MONDO:equivalentTo"} xref: ICD9:127.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D009814 {source="EFO:0007400", source="DOID:3983", source="MONDO:equivalentTo"} xref: SCTID:22500005 {source="DOID:3983", source="MONDO:equivalentTo"} @@ -108979,6 +109815,7 @@ xref: EFO:0007401 {source="MONDO:equivalentTo"} xref: HP:0001562 {source="MONDO:otherHierarchy"} xref: ICD10CM:O41.0 {source="DOID:12215"} xref: ICD10CM:O41.00 {source="DOID:12215"} +xref: icd11.foundation:262953341 {source="MONDO:equivalentTo"} xref: ICD9:658.0 {source="DOID:12215"} xref: ICD9:658.00 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D016104 {source="EFO:0007401", source="DOID:12215", source="MONDO:equivalentTo"} @@ -109029,6 +109866,7 @@ synonym: "infection due to Opisthorchis (felineus)(viverrini)" RELATED [GARD:000 xref: DOID:13768 {source="EFO:0007404", source="MONDO:equivalentTo"} xref: EFO:0007404 {source="MONDO:equivalentTo"} xref: ICD10CM:B66.0 {source="DOID:13768", source="MONDO:equivalentTo"} +xref: icd11.foundation:1401769984 {source="MONDO:equivalentTo"} xref: ICD9:121.0 {source="DOID:13768", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D009889 {source="DOID:13768", source="EFO:0007404", source="MONDO:equivalentTo"} xref: SCTID:1059007 {source="DOID:13768", source="MONDO:equivalentTo"} @@ -109046,6 +109884,7 @@ xref: DOID:1210 {source="EFO:0007405", source="MONDO:equivalentTo"} xref: EFO:0007405 {source="MONDO:equivalentTo"} xref: ICD10CM:H46 {source="DOID:1210", source="MONDO:equivalentTo"} xref: ICD10CM:H46.9 {source="DOID:1210"} +xref: icd11.foundation:210935787 {source="MONDO:equivalentTo"} xref: ICD9:377.3 {source="DOID:1210"} xref: ICD9:377.30 {source="DOID:1210", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:377.39 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -109268,6 +110107,7 @@ xref: ICD10CM:B41.0 {source="Orphanet:73260/btnt", source="Orphanet:73260"} xref: ICD10CM:B41.7 {source="Orphanet:73260/btnt", source="Orphanet:73260"} xref: ICD10CM:B41.8 {source="Orphanet:73260/btnt", source="Orphanet:73260"} xref: ICD10CM:B41.9 {source="Orphanet:73260/btnt", source="DOID:12662", source="Orphanet:73260"} +xref: icd11.foundation:268777657 {source="MONDO:equivalentTo"} xref: ICD9:116.1 {source="DOID:12662"} xref: MedDRA:10061906 {source="Orphanet:73260/e", source="Orphanet:73260"} xref: MESH:D010229 {source="Orphanet:73260/e", source="MONDO:equivalentTo", source="EFO:0007417", source="DOID:12662", source="Orphanet:73260"} @@ -109301,6 +110141,7 @@ synonym: "pulmonary paragonimiasis" EXACT [DOID:10699] xref: DOID:10699 {source="EFO:0007418", source="MONDO:equivalentTo"} xref: EFO:0007418 {source="MONDO:equivalentTo"} xref: ICD10CM:B66.4 {source="DOID:10699", source="MONDO:equivalentTo"} +xref: icd11.foundation:1422824299 {source="MONDO:equivalentTo"} xref: ICD9:121.2 {source="DOID:10699", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D010237 {source="DOID:10699", source="EFO:0007418", source="MONDO:equivalentTo"} xref: NCIT:C84995 {source="DOID:10699", source="MONDO:equivalentTo"} @@ -109410,6 +110251,7 @@ synonym: "Pasteurella infectious disease" EXACT [DOID:11055] xref: DOID:11055 {source="EFO:0007424", source="MONDO:equivalentTo"} xref: EFO:0007424 {source="MONDO:equivalentTo"} xref: ICD10CM:A28.0 {source="MONDO:equivalentTo", source="DOID:11055"} +xref: icd11.foundation:304649065 {source="MONDO:equivalentTo"} xref: ICD9:027.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11055"} xref: MESH:D010326 {source="EFO:0007424", source="MONDO:equivalentTo", source="DOID:11055"} xref: SCTID:186328008 {source="DOID:11055"} @@ -109478,6 +110320,7 @@ synonym: "pericardium inflammation" EXACT [MONDO:patterns/inflammatory_disease_b xref: DOID:1787 {source="EFO:0007427", source="MONDO:equivalentTo"} xref: EFO:0007427 {source="MONDO:equivalentTo"} xref: HP:0001701 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:1296696944 {source="MONDO:equivalentTo"} xref: MESH:D010493 {source="EFO:0007427", source="MONDO:equivalentTo", source="DOID:1787"} xref: NCIT:C34915 {source="MONDO:equivalentTo", source="DOID:1787"} xref: Orphanet:58208 {source="MONDO:equivalentObsolete"} @@ -109497,6 +110340,7 @@ synonym: "nocturnal myoclonus" EXACT [DOID:9207] xref: DOID:9207 {source="MONDO:equivalentTo", source="EFO:0007428"} xref: EFO:0007428 {source="MONDO:equivalentTo"} xref: ICD10CM:G47.61 {source="DOID:9207", source="MONDO:equivalentTo"} +xref: icd11.foundation:1846518306 {source="MONDO:equivalentTo"} xref: ICD9:327.51 {source="DOID:9207", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D020189 {source="DOID:9207", source="EFO:0007428"} xref: SCTID:418763003 {source="DOID:9207", source="MONDO:equivalentTo"} @@ -109515,6 +110359,7 @@ synonym: "quinsy" EXACT [NCIT:C128322] xref: DOID:12765 {source="EFO:0007429", source="MONDO:obsolete"} xref: EFO:0007429 {source="MONDO:equivalentTo"} xref: ICD10CM:J36 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1782446047 {source="MONDO:equivalentTo"} xref: ICD9:475 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D000039 {source="EFO:0007429", source="MONDO:equivalentTo"} xref: NCIT:C128322 {source="MONDO:equivalentTo"} @@ -109689,6 +110534,7 @@ synonym: "tinea versicolor" RELATED [MESH:D014010] xref: DOID:9060 {source="MONDO:equivalentTo", source="EFO:0007439"} xref: EFO:0007439 {source="MONDO:equivalentTo"} xref: ICD10CM:B36.0 {source="DOID:9060", source="MONDO:equivalentTo"} +xref: icd11.foundation:67108853 {source="MONDO:equivalentTo"} xref: ICD9:111.0 {source="DOID:9060", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D014010 {source="DOID:9060", source="MONDO:equivalentTo", source="EFO:0007439"} xref: NCIT:C112833 {source="DOID:9060"} @@ -109714,6 +110560,7 @@ synonym: "placenta Percreta" RELATED [MESH:D010921] xref: DOID:4744 {source="MONDO:equivalentTo", source="EFO:0007440"} xref: EFO:0007440 {source="MONDO:equivalentTo"} xref: ICD10CM:O43.21 {source="DOID:4744"} +xref: icd11.foundation:298160226 {source="MONDO:equivalentTo"} xref: MESH:D010921 {source="MONDO:equivalentTo", source="DOID:4744", source="EFO:0007440"} xref: NCIT:C26856 {source="MONDO:equivalentTo", source="DOID:4744"} xref: SCTID:70129008 {source="MONDO:equivalentTo", source="DOID:4744"} @@ -110066,6 +110913,7 @@ xref: ICD10CM:C34.2 {source="Orphanet:64741/nd", source="Orphanet:64741"} xref: ICD10CM:C34.3 {source="Orphanet:64741/nd", source="Orphanet:64741"} xref: ICD10CM:C34.8 {source="Orphanet:64741/nd", source="Orphanet:64741"} xref: ICD10CM:C34.9 {source="Orphanet:64741/nd", source="Orphanet:64741"} +xref: icd11.foundation:1050293830 {source="MONDO:equivalentTo"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8972/3 {source="NCIT:C3732"} xref: MESH:D018202 {source="EFO:0007458", source="Orphanet:64741", source="DOID:4765", source="MONDO:equivalentTo", source="Orphanet:64741/e"} @@ -110237,6 +111085,7 @@ xref: DOID:14525 {source="EFO:0007467", source="MONDO:equivalentTo"} xref: EFO:0007467 {source="MONDO:equivalentTo"} xref: GARD:7570 {source="Orphanet:3096"} xref: ICD10CM:G93.7 {source="DOID:14525", source="Orphanet:3096/ntbt", source="Orphanet:3096"} +xref: icd11.foundation:649014905 {source="MONDO:equivalentTo"} xref: icd11.foundation:649014905 {source="MONDO:equivalentTo", source="Orphanet:3096"} xref: ICD9:331.81 {source="DOID:14525", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10039012 {source="Orphanet:3096/e", source="Orphanet:3096"} @@ -110289,6 +111138,7 @@ name: rhinoscleroma def: "A granulomatous disease caused by klebsiella rhinoscleromatis infection. Despite its name, this disease is not limited to the nose and nasopharynx but may affect any part of the respiratory tract, sometimes with extension to the lip and the skin." [MESH:D012226] xref: DOID:11336 {source="MONDO:equivalentTo", source="EFO:0007470"} xref: EFO:0007470 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1053615368 {source="MONDO:equivalentTo"} xref: ICD9:040.1 {source="DOID:11336", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D012226 {source="DOID:11336", source="MONDO:equivalentTo", source="EFO:0007470"} xref: SCTID:72409005 {source="DOID:11336", source="MONDO:equivalentTo"} @@ -110311,6 +111161,7 @@ synonym: "Rhinosporidium seeberi infectious disease" EXACT [] xref: DOID:2409 {source="MONDO:equivalentTo", source="EFO:0007471"} xref: EFO:0007471 {source="MONDO:equivalentTo"} xref: ICD10CM:B48.1 {source="MONDO:equivalentTo", source="DOID:2409"} +xref: icd11.foundation:1150206155 {source="MONDO:equivalentTo"} xref: ICD9:117.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2409"} xref: MESH:D012227 {source="MONDO:equivalentTo", source="EFO:0007471", source="DOID:2409"} xref: SCTID:18140003 {source="MONDO:equivalentTo", source="DOID:2409"} @@ -110391,6 +111242,7 @@ xref: DOID:8596 {source="EFO:0007477", source="MONDO:equivalentTo"} xref: EFO:0007477 {source="MONDO:equivalentTo"} xref: ICD10CM:A38 {source="MONDO:equivalentTo", source="DOID:8596"} xref: ICD10CM:A38.9 {source="DOID:8596"} +xref: icd11.foundation:107294155 {source="MONDO:equivalentTo"} xref: ICD9:034 {source="DOID:8596"} xref: ICD9:034.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8596"} xref: MESH:D012541 {source="EFO:0007477", source="MONDO:equivalentTo", source="DOID:8596"} @@ -110424,6 +111276,7 @@ synonym: "scirrhous adenocarcinoma (morphologic abnormality)" EXACT [DOID:4024] synonym: "scirrhous carcinoma" EXACT [NCIT:C2928] xref: DOID:4024 {source="EFO:0007478", source="MONDO:equivalentTo"} xref: EFO:0007478 {source="MONDO:equivalentTo"} +xref: icd11.foundation:683710004 {source="MONDO:equivalentTo"} xref: ICDO:8141/3 {source="NCIT:C2928"} xref: MESH:D002293 {source="DOID:4024", source="EFO:0007478", source="MONDO:equivalentTo"} xref: NCIT:C2928 {source="DOID:4024", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -110614,6 +111467,7 @@ synonym: "Spirometra infectious disease" EXACT [] xref: DOID:10080 {source="EFO:0007488", source="MONDO:equivalentTo"} xref: EFO:0007488 {source="MONDO:equivalentTo"} xref: ICD10CM:B70.1 {source="DOID:10080", source="MONDO:equivalentTo"} +xref: icd11.foundation:22873958 {source="MONDO:equivalentTo"} xref: ICD9:123.5 {source="DOID:10080", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D013031 {source="EFO:0007488", source="DOID:10080", source="MONDO:equivalentTo"} xref: NCIT:C35030 {source="DOID:10080", source="MONDO:equivalentTo"} @@ -110657,6 +111511,7 @@ xref: ICD10CM:M48.0 {source="DOID:6725"} xref: ICD10CM:M48.00 {source="DOID:6725"} xref: ICD10CM:M48.02 {source="DOID:6725"} xref: ICD10CM:M48.06 {source="DOID:6725"} +xref: icd11.foundation:1847895828 {source="MONDO:equivalentTo"} xref: ICD9:723.0 {source="DOID:6725"} xref: ICD9:724.00 {source="DOID:6725", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:724.09 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -110753,6 +111608,7 @@ xref: ICD10CM:B42.1 {source="Orphanet:826", source="Orphanet:826/btnt"} xref: ICD10CM:B42.7 {source="Orphanet:826", source="Orphanet:826/btnt"} xref: ICD10CM:B42.8 {source="Orphanet:826", source="Orphanet:826/btnt"} xref: ICD10CM:B42.9 {source="DOID:14484", source="Orphanet:826", source="Orphanet:826/btnt"} +xref: icd11.foundation:579570784 {source="MONDO:equivalentTo"} xref: ICD9:117.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14484"} xref: MedDRA:10041736 {source="Orphanet:826", source="Orphanet:826/e"} xref: MESH:D013174 {source="MONDO:equivalentTo", source="DOID:14484", source="Orphanet:826", source="EFO:0007494", source="Orphanet:826/e"} @@ -110900,6 +111756,7 @@ xref: ICD10CM:B78.0 {source="Orphanet:76", source="Orphanet:76/btnt"} xref: ICD10CM:B78.1 {source="Orphanet:76", source="Orphanet:76/btnt"} xref: ICD10CM:B78.7 {source="Orphanet:76", source="Orphanet:76/btnt"} xref: ICD10CM:B78.9 {source="Orphanet:76", source="DOID:10955", source="Orphanet:76/btnt"} +xref: icd11.foundation:2088326190 {source="MONDO:equivalentTo"} xref: icd11.foundation:2088326190 {source="Orphanet:76", source="MONDO:equivalentTo"} xref: ICD9:127.2 {source="DOID:10955"} xref: MedDRA:10042254 {source="Orphanet:76", source="Orphanet:76/e"} @@ -110929,6 +111786,7 @@ xref: EFO:0007503 {source="MONDO:equivalentTo"} xref: ICD10CM:H66 {source="DOID:11506"} xref: ICD10CM:H66.4 {source="DOID:11506"} xref: ICD10CM:H66.40 {source="DOID:11506"} +xref: icd11.foundation:1528565412 {source="MONDO:equivalentTo"} xref: ICD9:382 {source="DOID:11506"} xref: ICD9:382.4 {source="MONDO:equivalentTo", source="DOID:11506", source="MONDO:i2s"} xref: MESH:D010035 {source="EFO:0007503", source="MONDO:equivalentTo", source="DOID:11506"} @@ -110953,6 +111811,7 @@ synonym: "Treponema pallidum infectious disease" EXACT [] xref: DOID:4166 {source="EFO:0007504", source="MONDO:equivalentTo"} xref: EFO:0007504 {source="MONDO:equivalentTo"} xref: ICD10CM:A51.0 {source="DOID:4166"} +xref: icd11.foundation:455894495 {source="MONDO:equivalentTo"} xref: ICD9:097.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10062120 {source="EFO:0007504"} xref: MESH:D002601 {source="DOID:4166"} @@ -110984,6 +111843,7 @@ synonym: "tabes dorsalis - neurosyphilis" EXACT [DOID:10027] xref: DOID:10027 {source="MONDO:equivalentTo", source="EFO:0007505"} xref: EFO:0007505 {source="MONDO:equivalentTo"} xref: ICD10CM:A52.11 {source="DOID:10027", source="MONDO:equivalentTo"} +xref: icd11.foundation:1131342025 {source="MONDO:equivalentTo"} xref: ICD9:094.0 {source="DOID:10027", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D013606 {source="DOID:10027", source="MONDO:equivalentTo", source="EFO:0007505"} xref: NCIT:C35057 {source="DOID:10027", source="MONDO:equivalentTo"} @@ -111035,6 +111895,7 @@ xref: DOID:3103 {source="MONDO:equivalentTo", source="EFO:0007507"} xref: EFO:0007507 {source="MONDO:equivalentTo"} xref: GARD:7759 {source="Orphanet:97330"} xref: ICD10CM:G54.0 {source="DOID:3103", source="Orphanet:97330/ntbt", source="Orphanet:97330"} +xref: icd11.foundation:909280105 {source="MONDO:equivalentTo"} xref: MedDRA:10048627 {source="Orphanet:97330/e", source="Orphanet:97330"} xref: MESH:D013901 {source="DOID:3103", source="Orphanet:97330/e", source="MONDO:equivalentTo", source="EFO:0007507", source="Orphanet:97330"} xref: NCIT:C85188 {source="DOID:3103", source="MONDO:equivalentTo"} @@ -111211,6 +112072,7 @@ xref: EFO:0007516 {source="MONDO:equivalentTo"} xref: GARD:18793 {source="Orphanet:3343"} xref: ICD10CM:B83.0 {source="Orphanet:3343", source="Orphanet:3343/e", source="DOID:9790"} xref: icd11.foundation:1794729263 {source="Orphanet:3343", source="MONDO:equivalentTo"} +xref: icd11.foundation:1794729263 {source="MONDO:equivalentTo"} xref: ICD9:128.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10044269 {source="Orphanet:3343", source="Orphanet:3343/e"} xref: MESH:D007816 {source="EFO:0007516", source="DOID:9790"} @@ -111245,6 +112107,7 @@ xref: DOID:9965 {source="EFO:0007517", source="MONDO:equivalentTo"} xref: EFO:0007517 {source="MONDO:equivalentTo"} xref: ICD10CM:B58 {source="DOID:9965", source="MONDO:equivalentTo"} xref: ICD10CM:B58.9 {source="DOID:9965"} +xref: icd11.foundation:738999268 {source="MONDO:equivalentTo"} xref: ICD9:130 {source="DOID:9965"} xref: ICD9:130.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:130.9 {source="DOID:9965", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -111319,6 +112182,7 @@ xref: DOID:11101 {source="MONDO:equivalentTo", source="EFO:0007519"} xref: EFO:0007519 {source="MONDO:equivalentTo"} xref: GARD:18862 {source="Orphanet:64694"} xref: ICD10CM:A79.0 {source="Orphanet:64694/e", source="MONDO:equivalentTo", source="DOID:11101", source="Orphanet:64694"} +xref: icd11.foundation:1587737629 {source="MONDO:equivalentTo"} xref: icd11.foundation:1587737629 {source="MONDO:equivalentTo", source="Orphanet:64694"} xref: ICD9:083.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11101"} xref: MedDRA:10044582 {source="Orphanet:64694/e", source="Orphanet:64694"} @@ -111423,6 +112287,7 @@ synonym: "whipworm infection" RELATED [GARD:0010720] xref: DOID:1252 {source="EFO:0007524", source="MONDO:equivalentTo"} xref: EFO:0007524 {source="MONDO:equivalentTo"} xref: ICD10CM:B79 {source="DOID:1252", source="MONDO:equivalentTo"} +xref: icd11.foundation:422746556 {source="MONDO:equivalentTo"} xref: ICD9:127.3 {source="DOID:1252", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D014257 {source="DOID:1252", source="EFO:0007524", source="MONDO:equivalentTo"} xref: NCIT:C128399 {source="MONDO:equivalentTo"} @@ -111450,6 +112315,7 @@ synonym: "tricuspid stenosis" EXACT [DOID:4078] xref: DOID:4078 {source="EFO:0007525", source="MONDO:equivalentTo"} xref: EFO:0007525 {source="MONDO:equivalentTo"} xref: HP:0010446 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:442626161 {source="MONDO:equivalentTo"} xref: MESH:D014264 {source="DOID:4078", source="EFO:0007525", source="MONDO:equivalentTo"} xref: NCIT:C50783 {source="DOID:4078", source="MONDO:equivalentTo", source="MONDO:otherHierarchy"} xref: SCTID:155346002 {source="DOID:4078"} @@ -111509,6 +112375,7 @@ synonym: "Mycobacterium tuberculosis peritonitis" EXACT [] xref: DOID:9801 {source="MONDO:equivalentTo", source="EFO:0007529"} xref: EFO:0007529 {source="MONDO:equivalentTo"} xref: ICD10CM:A18.31 {source="DOID:9801", source="MONDO:equivalentTo"} +xref: icd11.foundation:925657864 {source="MONDO:equivalentTo"} xref: ICD9:014.0 {source="DOID:9801"} xref: ICD9:014.00 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:014.01 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -111625,6 +112492,7 @@ def: "Inflammation in the nasal cavity mucosa that results from the abnormal reg xref: DOID:4730 {source="EFO:0007533", source="MONDO:equivalentTo"} xref: EFO:0007533 {source="MONDO:equivalentTo"} xref: ICD10CM:J30.0 {source="DOID:4730", source="MONDO:equivalentTo"} +xref: icd11.foundation:1286636442 {source="MONDO:equivalentTo"} xref: MESH:D012223 {source="EFO:0007533", source="DOID:4730", source="MONDO:equivalentTo"} xref: NCIT:C34988 {source="DOID:4730", source="MONDO:equivalentTo"} xref: SCTID:155537009 {source="DOID:4730"} @@ -111649,6 +112517,7 @@ synonym: "Venezuelan equine fever" RELATED [DOID:9584, ICD9CM:066.2] xref: DOID:9584 {source="EFO:0007534", source="MONDO:equivalentTo"} xref: EFO:0007534 {source="MONDO:equivalentTo"} xref: ICD10CM:A92.2 {source="MONDO:equivalentTo", source="DOID:9584"} +xref: icd11.foundation:608978790 {source="MONDO:equivalentTo"} xref: ICD9:066.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9584"} xref: MESH:D004685 {source="EFO:0007534", source="MONDO:equivalentTo", source="DOID:9584"} xref: NCIT:C35121 {source="MONDO:equivalentTo", source="DOID:9584"} @@ -111702,6 +112571,7 @@ xref: EFO:0007536 {source="MONDO:equivalentTo"} xref: HP:0000076 {source="MONDO:otherHierarchy"} xref: ICD10CM:N13.7 {source="DOID:9620"} xref: ICD10CM:N13.70 {source="DOID:9620"} +xref: icd11.foundation:2142055506 {source="MONDO:equivalentTo"} xref: ICD9:593.7 {source="DOID:9620"} xref: MESH:D014718 {source="EFO:0007536", source="MONDO:equivalentTo", source="DOID:9620"} xref: NCIT:C84467 {source="MONDO:otherHierarchy", source="DOID:9620"} @@ -111813,6 +112683,7 @@ xref: DOID:1884 {source="MONDO:equivalentTo", source="EFO:0007540"} xref: EFO:0004196 {source="MONDO:equivalentTo"} xref: EFO:0007540 {source="MONDO:Homolog"} xref: ICD10CM:B15-B19 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} +xref: icd11.foundation:985510409 {source="MONDO:equivalentTo"} xref: ICD9:573.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D006524 {source="DOID:1884", source="MONDO:NonHumanEquivalent"} xref: MESH:D006525 {source="MONDO:equivalentTo", source="EFO:0004196"} @@ -111837,6 +112708,7 @@ synonym: "Viruses pneumonia" EXACT [] xref: DOID:10533 {source="MONDO:equivalentTo", source="EFO:0007541"} xref: EFO:0007541 {source="MONDO:equivalentTo"} xref: ICD10CM:J12.9 {source="DOID:10533"} +xref: icd11.foundation:1024154490 {source="MONDO:equivalentTo"} xref: ICD9:480 {source="DOID:10533"} xref: ICD9:480.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:480.9 {source="DOID:10533", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -111920,6 +112792,7 @@ xref: ICD10CM:A39.1 {source="MONDO:equivalentTo"} xref: ICD10EXP:A39.1+ {source="Orphanet:100067", source="Orphanet:100067/e"} xref: ICD10EXP:E35.1* {source="Orphanet:100067", source="Orphanet:100067/e"} xref: icd11.foundation:2072098125 {source="Orphanet:100067", source="MONDO:equivalentTo"} +xref: icd11.foundation:2072098125 {source="MONDO:equivalentTo"} xref: ICD9:036.3 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10047847 {source="Orphanet:100067", source="Orphanet:100067/e"} xref: MESH:D014884 {source="DOID:9931", source="EFO:0007544", source="Orphanet:100067", source="MONDO:equivalentTo", source="Orphanet:100067/e"} @@ -111985,6 +112858,7 @@ xref: DOID:10371 {source="EFO:0007548", source="MONDO:equivalentTo"} xref: EFO:0007548 {source="MONDO:equivalentTo"} xref: ICD10CM:A66 {source="MONDO:equivalentTo", source="DOID:10371"} xref: ICD10CM:A66.9 {source="DOID:10371"} +xref: icd11.foundation:840525023 {source="MONDO:equivalentTo"} xref: ICD9:102 {source="DOID:10371"} xref: ICD9:102.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:102.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10371"} @@ -112193,6 +113067,7 @@ def: "Chronic form of sinusitis." [MONDO:patterns/chronic] synonym: "chronic sinusitis" EXACT [] synonym: "sinusitis, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic] xref: EFO:1000024 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1836987572 {source="MONDO:equivalentTo"} xref: ICD9:473.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:473.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C35151 {source="MONDO:equivalentTo"} @@ -112214,6 +113089,7 @@ xref: DOID:1679 {source="EFO:1000025", source="MONDO:equivalentTo"} xref: EFO:1000025 {source="MONDO:equivalentTo"} xref: ICD10CM:N30 {source="DOID:1679"} xref: ICD10CM:N30.9 {source="DOID:1679"} +xref: icd11.foundation:1181120673 {source="MONDO:equivalentTo"} xref: ICD9:595 {source="EFO:1000025", source="DOID:1679"} xref: ICD9:595.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:595.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1679"} @@ -112244,6 +113120,7 @@ synonym: "DIPG" EXACT ABBREVIATION [GARD:0013075, ONCOTREE:DIPG, Orphanet:497188 synonym: "infiltrative brainstem glioma" RELATED [GARD:0013075] xref: EFO:1000026 {source="MONDO:equivalentTo"} xref: GARD:13075 {source="Orphanet:497188"} +xref: icd11.foundation:1771524425 {source="MONDO:equivalentTo"} xref: MESH:D000080443 {source="MONDO:equivalentTo"} xref: NCIT:C94764 {source="MONDO:equivalentTo", source="EFO:1000026"} xref: ONCOTREE:DIPG {source="MONDO:equivalentTo"} @@ -112365,6 +113242,7 @@ def: "It describes patients in whom a diagnosis of ulcerative colitis or Crohn's synonym: "colitis of indeterminate type" EXACT [NCIT:C27110] xref: EFO:1000034 {source="MONDO:equivalentTo"} xref: ICD10CM:K52.3 {source="MONDO:equivalentTo"} +xref: icd11.foundation:553916326 {source="MONDO:equivalentTo"} xref: ICD9:558.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C27110 {source="EFO:1000034", source="MONDO:equivalentTo"} xref: SCTID:235746007 {source="EFO:1000034", source="MONDO:equivalentTo"} @@ -112502,6 +113380,7 @@ xref: DOID:11664 {source="EFO:1000041", source="MONDO:equivalentTo"} xref: EFO:1000041 {source="MONDO:equivalentTo"} xref: ICD10CM:I12 {source="DOID:11664"} xref: ICD10CM:N26.9 {source="DOID:11664"} +xref: icd11.foundation:1878591797 {source="MONDO:equivalentTo"} xref: ICD9:587 {source="EFO:1000041", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11664"} xref: MESH:D009400 {source="EFO:1000041", source="MONDO:equivalentTo", source="DOID:11664"} xref: SCTID:194773000 {source="DOID:11664"} @@ -113101,6 +113980,7 @@ synonym: "mixed adenocarcinoma and squamous carcinoma" EXACT [DOID:4830, NCIT:C3 synonym: "mixed adenocarcinoma and squamous cell carcinoma" EXACT [NCIT:C3727] xref: DOID:4830 {source="MONDO:equivalentTo"} xref: EFO:1000073 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1793155313 {source="MONDO:equivalentTo"} xref: ICDO:8560/3 {source="NCIT:C3727"} xref: MESH:D018196 {source="DOID:4830", source="MONDO:equivalentTo"} xref: NCIT:C3727 {source="EFO:1000073", source="DOID:4830", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -113308,6 +114188,7 @@ id: MONDO:0006086 name: angiomyxoma def: "A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells, and vascular proliferation in a myxoid stroma." [NCIT:C3254] xref: EFO:1000087 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1810868419 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8841/0 {source="NCIT:C3254"} xref: ICDO:8841/1 {source="NCIT:C3254"} @@ -113592,6 +114473,7 @@ name: basaloid carcinoma def: "A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading." [NCIT:C4121] synonym: "basaloid carcinoma" EXACT [NCIT:C4121] xref: EFO:1000105 {source="MONDO:equivalentTo"} +xref: icd11.foundation:739641860 {source="MONDO:equivalentTo"} xref: ICDO:8123/3 {source="NCIT:C4121"} xref: NCIT:C4121 {source="MONDO:equivalentTo", source="EFO:1000105"} xref: UMLS:C1704216 {source="NCIT:C4121", source="MONDO:notFoundInDiseaseSubset"} @@ -113736,6 +114618,7 @@ synonym: "Hepatocholangiocellular adenoma" EXACT [NCIT:C2942] synonym: "Hepatocholangioma" EXACT [NCIT:C2942] xref: DOID:5381 {source="MONDO:equivalentTo"} xref: EFO:1000123 {source="MONDO:equivalentTo"} +xref: icd11.foundation:105618876 {source="MONDO:equivalentTo"} xref: ICDO:8160/0 {source="NCIT:C2942"} xref: MESH:D002759 {source="MONDO:equivalentTo", source="DOID:5381"} xref: NCIT:C2942 {source="MONDO:equivalentTo", source="EFO:1000123", source="DOID:5381", source="MONDO:exact-label-match"} @@ -114124,6 +115007,7 @@ synonym: "lipomatous medulloblastoma (formerly)" RELATED DEPRECATED [GARD:001064 xref: DOID:6458 {source="MONDO:equivalentTo"} xref: EFO:1000159 {source="MONDO:equivalentTo"} xref: GARD:10642 {source="Orphanet:251931"} +xref: icd11.foundation:950838670 {source="MONDO:equivalentTo"} xref: ICDO:0000/0 {source="NCIT:C6905"} xref: NCIT:C6905 {source="DOID:6458", source="MONDO:equivalentTo", source="EFO:1000159", source="MONDO:exact-label-match"} xref: ONCOTREE:CLNC {source="MONDO:equivalentTo"} @@ -114446,6 +115330,7 @@ synonym: "chondroid chordoma" EXACT [MONDO:0002893] synonym: "chondroid chordoma (morphologic abnormality)" EXACT [DOID:4152] xref: DOID:4152 {source="MONDO:equivalentTo"} xref: EFO:1000174 {source="MONDO:equivalentTo"} +xref: icd11.foundation:720664478 {source="MONDO:equivalentTo"} xref: ICDO:9371/3 {source="NCIT:C6902"} xref: NCIT:C6902 {source="EFO:1000174", source="MONDO:equivalentTo", source="DOID:4152"} xref: SCTID:128784007 {source="DOID:4152"} @@ -115214,6 +116099,7 @@ synonym: "tumor of endolymphatic sac" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of endolymphatic sac" EXACT OMO:0003005 [] xref: EFO:1000230 {source="MONDO:equivalentTo"} xref: HP:0030393 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:1516419502 {source="MONDO:equivalentTo"} xref: ICD9:212.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8260/1 {source="NCIT:C67560"} xref: NCIT:C67560 {source="EFO:1000230", source="MONDO:equivalentTo"} @@ -115235,6 +116121,7 @@ synonym: "endometrial clear cell adenocarcinoma" EXACT [MONDO:0003380, NCIT:C802 synonym: "endometrium clear cell adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:5299 {source="MONDO:equivalentTo"} xref: EFO:1000231 {source="MONDO:equivalentTo"} +xref: icd11.foundation:388735319 {source="MONDO:equivalentTo"} xref: NCIT:C8028 {source="DOID:5299", source="EFO:1000231", source="MONDO:equivalentTo"} xref: UMLS:C0279765 {source="DOID:5299", source="MONDO:equivalentTo", source="NCIT:C8028"} is_a: MONDO:0005004 {source="EFO:1000231", source="MONDO:Redundant", source="NCIT:C8028"} ! clear cell adenocarcinoma @@ -115257,6 +116144,7 @@ synonym: "uterine corpus endometrioid adenocarcinoma" EXACT [NCIT:C6287] synonym: "uterine corpus endometrioid carcinoma" EXACT [NCIT:C6287] synonym: "uterine endometrioid carcinoma" RELATED [ONCOTREE:UEC] xref: EFO:1000233 {source="MONDO:equivalentTo"} +xref: icd11.foundation:671511103 {source="MONDO:equivalentTo"} xref: NCIT:C6287 {source="MONDO:equivalentTo", source="EFO:1000233"} xref: ONCOTREE:UEC {source="MONDO:equivalentTo"} xref: UMLS:C1336905 {source="NCIT:C6287", source="MONDO:equivalentTo"} @@ -115312,6 +116200,7 @@ synonym: "uterine serous adenocarcinoma" BROAD [NCIT:C27838] synonym: "uterine serous carcinoma" BROAD [NCIT:C27838] synonym: "uterine serous papillary adenocarcinoma" EXACT [NCIT:C27838] xref: EFO:1000238 {source="MONDO:equivalentTo"} +xref: icd11.foundation:225222541 {source="MONDO:equivalentTo"} xref: NCIT:C27838 {source="MONDO:equivalentTo", source="EFO:1000238"} xref: UMLS:C0854924 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C27838"} is_a: MONDO:0005278 {source="EFO:1000238", source="MONDO:Redundant", source="NCIT:C27838"} ! serous adenocarcinoma @@ -115329,6 +116218,7 @@ synonym: "endometrium small cell carcinoma" EXACT [MONDO:design_pattern, MONDO:p synonym: "small cell carcinoma of endometrium" EXACT [MONDO:design_pattern] xref: DOID:7139 {source="MONDO:equivalentTo"} xref: EFO:1000239 {source="MONDO:equivalentTo"} +xref: icd11.foundation:845680139 {source="MONDO:equivalentTo"} xref: NCIT:C40155 {source="DOID:7139", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000239"} xref: UMLS:C1516858 {source="DOID:7139", source="MONDO:equivalentTo", source="NCIT:C40155"} is_a: MONDO:0000402 {source="MONDO:Redundant", source="NCIT:C40155"} ! small cell carcinoma @@ -115346,6 +116236,7 @@ synonym: "squamous cell carcinoma of endometrium" EXACT [DOID:5533, NCIT:C8719] synonym: "squamous cell carcinoma of the endometrium" EXACT [NCIT:C8719] xref: DOID:5533 {source="MONDO:equivalentTo"} xref: EFO:1000240 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1130568776 {source="MONDO:equivalentTo"} xref: NCIT:C8719 {source="DOID:5533", source="EFO:1000240", source="MONDO:equivalentTo"} xref: UMLS:C0854925 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C8719"} xref: UMLS:C1333396 {source="DOID:5533", source="MONDO:equivalentTo"} @@ -115361,6 +116252,7 @@ def: "A primary carcinoma of the endometrium characterized by the presence of ma synonym: "endometrial undifferentiated carcinoma" EXACT [NCIT:C40156] synonym: "undifferentiated endometrial carcinoma" EXACT [NCIT:C40156] xref: EFO:1000242 {source="MONDO:equivalentTo"} +xref: icd11.foundation:130578959 {source="MONDO:equivalentTo"} xref: NCIT:C40156 {source="EFO:1000242", source="MONDO:equivalentTo"} xref: UMLS:C1516865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MONDO:notFoundInDiseaseSubset", source="NCIT:C40156"} is_a: MONDO:0002447 {source="MONDO:Redundant", source="NCIT:C40156"} ! endometrial carcinoma @@ -115599,6 +116491,7 @@ synonym: "fibrous hamartoma" EXACT [NCIT:C3942] synonym: "fibrous hamartoma of infancy" EXACT [NCIT:C3942] synonym: "infantile fibrous hamartoma" EXACT [NCIT:C3942] xref: EFO:1000257 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1496992098 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3942 {source="MONDO:equivalentTo", source="EFO:1000257"} xref: SCTID:56364004 {source="MONDO:equivalentTo"} @@ -116245,6 +117138,7 @@ synonym: "hepatoid adenocarcinoma" EXACT [NCIT:C66950] synonym: "hepatoid carcinoma" EXACT [NCIT:C66950] xref: DOID:0060534 {source="MONDO:equivalentTo"} xref: EFO:1000293 {source="MONDO:equivalentTo"} +xref: icd11.foundation:507225556 {source="MONDO:equivalentTo"} xref: ICDO:8576/3 {source="NCIT:C66950"} xref: NCIT:C66950 {source="EFO:1000293", source="DOID:0060534", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1266090 {source="MONDO:equivalentTo", source="NCIT:C66950"} @@ -116281,6 +117175,7 @@ def: "A carcinoma with apocrine and less often eccrine differentiation, arising synonym: "clear cell eccrine carcinoma" EXACT [NCIT:C54664] synonym: "hidradenocarcinoma" EXACT [NCIT:C54664] xref: EFO:1000295 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1475491399 {source="MONDO:equivalentTo"} xref: ICDO:8402/3 {source="NCIT:C54664"} xref: NCIT:C54664 {source="EFO:1000295", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} is_a: MONDO:0005004 {source="EFO:1000295", source="NCIT:C54664"} ! clear cell adenocarcinoma @@ -116295,6 +117190,7 @@ subset: rare synonym: "high grade surface osteosarcoma" EXACT [NCIT:C53958] synonym: "high-grade surface osteosarcoma" RELATED [ONCOTREE:HGSOS] xref: EFO:1000296 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1922391140 {source="MONDO:equivalentTo"} xref: ICDO:9194/3 {source="NCIT:C53958"} xref: NCIT:C53958 {source="EFO:1000296", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:HGSOS {source="MONDO:equivalentTo"} @@ -116374,6 +117270,7 @@ synonym: "HP" EXACT ABBREVIATION [NCIT:C4083] synonym: "metaplastic polyp" EXACT [NCIT:C4083] synonym: "MP" EXACT ABBREVIATION [NCIT:C4083] xref: EFO:1000299 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1061764584 {source="MONDO:equivalentTo"} xref: NCIT:C4083 {source="MONDO:equivalentTo", source="EFO:1000299"} xref: UMLS:C0333983 {source="MONDO:equivalentTo", source="NCIT:C4083"} is_a: MONDO:0005079 {source="EFO:1000299", source="NCIT:C4083/inferred"} ! polyp @@ -116458,6 +117355,7 @@ subset: inferred_rare subset: rare synonym: "INTS" RELATED ABBREVIATION [ONCOTREE:INTS] xref: EFO:1000305 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1914835297 {source="MONDO:equivalentTo"} xref: NCIT:C53677 {source="MONDO:equivalentTo", source="EFO:1000305"} xref: ONCOTREE:INTS {source="MONDO:equivalentTo"} xref: UMLS:C1708550 {source="MONDO:equivalentTo", source="NCIT:C53677"} @@ -116747,6 +117645,7 @@ synonym: "low grade intramedullary osteosarcoma" EXACT [NCIT:C6474] synonym: "low-grade central osteosarcoma" RELATED [ONCOTREE:LGCOS] synonym: "low-grade intramedullary osteosarcoma" EXACT [NCIT:C6474] xref: EFO:1000327 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1954190884 {source="MONDO:equivalentTo"} xref: ICDO:9187/3 {source="NCIT:C6474"} xref: NCIT:C6474 {source="MONDO:equivalentTo", source="EFO:1000327"} xref: ONCOTREE:LGCOS {source="MONDO:equivalentTo"} @@ -116764,6 +117663,7 @@ subset: rare synonym: "low grade fibromyxoid sarcoma" EXACT [NCIT:C45202] synonym: "low-grade fibromyxoid sarcoma" RELATED [ONCOTREE:LGFMS] xref: EFO:1000328 {source="MONDO:equivalentTo"} +xref: icd11.foundation:941849376 {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C45202 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000328"} xref: ONCOTREE:LGFMS {source="MONDO:equivalentTo"} @@ -117001,6 +117901,7 @@ synonym: "skin lymphangiosarcoma" RELATED EXCLUDE [DOID:2689] synonym: "Stewart-Treves syndrome" EXACT [DOID:2689] xref: DOID:2689 {source="MONDO:equivalentTo"} xref: EFO:1000339 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1476686246 {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9170/3 {source="NCIT:C3205"} xref: MESH:C537491 {source="DOID:2689"} @@ -117427,6 +118328,7 @@ synonym: "metanephric adenoma" EXACT [NCIT:C27253] synonym: "metanephric adenoma (morphologic abnormality)" EXACT [DOID:6404] xref: DOID:6404 {source="MONDO:equivalentTo"} xref: EFO:1000373 {source="MONDO:equivalentTo"} +xref: icd11.foundation:903998247 {source="MONDO:equivalentTo"} xref: ICDO:8191/0 {source="NCIT:C27253"} xref: ICDO:8325/0 {source="NCIT:C27253"} xref: NCIT:C27253 {source="EFO:1000373", source="DOID:6404", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -117441,6 +118343,7 @@ id: MONDO:0006302 name: micropapillary serous carcinoma def: "An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio." [NCIT:P378] xref: EFO:1000377 {source="MONDO:equivalentTo"} +xref: icd11.foundation:344952172 {source="MONDO:equivalentTo"} xref: NCIT:C6882 {source="EFO:1000377", source="MONDO:equivalentTo"} is_a: MONDO:0004970 {source="EFO:1000377", source="NCIT:C6882"} ! adenocarcinoma @@ -117597,6 +118500,7 @@ synonym: "myofibroma" EXACT [DOID:4386, NCIT:C7052] synonym: "myofibroma (morphologic abnormality)" EXACT [DOID:4386] xref: DOID:4386 {source="MONDO:equivalentTo"} xref: EFO:1000389 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1911217913 {source="MONDO:equivalentTo"} xref: ICDO:8824/0 {source="NCIT:C7052"} xref: MESH:D047708 {source="DOID:4386", source="MONDO:equivalentTo"} xref: NCIT:C7052 {source="MONDO:equivalentTo", source="EFO:1000389", source="MONDO:exact-label-match"} @@ -117615,6 +118519,7 @@ name: nabothian cyst def: "A benign, mucus-filled cervical cyst that occurs when mucus-secreting columnar epithelial cells are covered with squamous epithelium." [NCIT:P378] comment: Editor note: check this xref: EFO:1000390 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1329172977 {source="MONDO:equivalentTo"} xref: NCIT:C34835 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="EFO:1000390"} xref: SCTID:24565001 {source="MONDO:equivalentTo"} xref: UMLS:C0027269 {source="MONDO:equivalentTo", source="NCIT:C34835"} @@ -117843,6 +118748,8 @@ synonym: "olfactory neuroepithelioma" EXACT [NCIT:C3789] synonym: "paranasal sinus olfactory neuroblastoma" EXACT [DOID:369, NCIT:C6016] xref: DOID:369 {source="MONDO:equivalentTo", source="EFO:1000407"} xref: EFO:1000407 {source="MONDO:equivalentTo"} +xref: icd11.foundation:2007774165 {source="MONDO:equivalentTo"} +xref: icd11.foundation:53002801 {source="MONDO:equivalentTo"} xref: ICDO:9522/3 {source="NCIT:C3789"} xref: ICDO:9523/3 {source="NCIT:C3789"} xref: MESH:D018304 {source="DOID:369", source="EFO:1000407"} @@ -118255,6 +119162,7 @@ def: "A rare, usually benign myoepithelial tumor characterized by the presence o synonym: "parachordoma" EXACT [NCIT:C6581] xref: DOID:2647 {source="MONDO:equivalentTo"} xref: EFO:1000452 {source="MONDO:equivalentTo"} +xref: icd11.foundation:298025660 {source="MONDO:equivalentTo"} xref: ICDO:9373/0 {source="NCIT:C6581"} xref: ICDO:9373/1 {source="NCIT:C6581"} xref: NCIT:C6581 {source="EFO:1000452", source="MONDO:equivalentTo", source="DOID:2647", source="MONDO:exact-label-match"} @@ -118661,6 +119569,7 @@ xref: DOID:0081280 {source="MONDO:equivalentTo"} xref: EFO:1000477 {source="MONDO:equivalentTo"} xref: GARD:20711 {source="Orphanet:251623"} xref: ICD10CM:C71.9 {source="Orphanet:251623", source="Orphanet:251623/ntbt"} +xref: icd11.foundation:1354083954 {source="MONDO:equivalentTo"} xref: ICD9:237.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9432/1 {source="NCIT:C94524"} xref: NCIT:C94524 {source="MONDO:equivalentTo", source="EFO:1000477"} @@ -118873,6 +119782,7 @@ xref: EFO:1000490 {source="MONDO:equivalentTo"} xref: GARD:20160 {source="Orphanet:178544"} xref: ICD10CM:C83.3 {source="Orphanet:178544/ntbt", source="Orphanet:178544"} xref: icd11.foundation:1418101362 {source="Orphanet:178544", source="MONDO:equivalentTo"} +xref: icd11.foundation:1418101362 {source="MONDO:equivalentTo"} xref: ICDO:9680/3 {source="NCIT:C45194"} xref: NCIT:C45194 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000490"} xref: Orphanet:178544 {source="MONDO:equivalentTo"} @@ -119441,6 +120351,7 @@ synonym: "sinus histiocytosis with massive lymphadenopathy" EXACT [Orphanet:1580 xref: EFO:1000528 {source="MONDO:equivalentTo"} xref: GARD:7588 {source="Orphanet:158014"} xref: ICD10CM:D76.3 {source="Orphanet:158014"} +xref: icd11.foundation:1908538383 {source="MONDO:equivalentTo"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10063397 {source="Orphanet:158014"} xref: MESH:D015618 {source="MONDO:equivalentTo"} @@ -119912,6 +120823,7 @@ synonym: "teratoma with malignant transformation" EXACT [NCIT:C4289] synonym: "TMT" RELATED ABBREVIATION [ONCOTREE:TMT] xref: DOID:0081246 {source="MONDO:equivalentTo"} xref: EFO:1000563 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1507806648 {source="MONDO:equivalentTo"} xref: ICDO:9084/3 {source="NCIT:C4289"} xref: NCIT:C4289 {source="MONDO:equivalentTo", source="EFO:1000563", source="MONDO:exact-label-match"} xref: ONCOTREE:TMT {source="MONDO:equivalentTo"} @@ -120957,6 +121869,7 @@ xref: EFO:1000632 {source="MONDO:equivalentTo"} xref: HP:0100021 {source="MONDO:otherHierarchy", source="EFO:1000632"} xref: ICD10CM:G80 {source="MONDO:equivalentTo", source="DOID:1969"} xref: ICD10CM:G80.9 {source="DOID:1969"} +xref: icd11.foundation:76906748 {source="MONDO:equivalentTo"} xref: ICD9:343.8 {source="MONDO:relatedTo", source="MONDO:i2s", source="DOID:1969"} xref: ICD9:343.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D002547 {source="MONDO:equivalentTo", source="DOID:1969"} @@ -121074,6 +121987,7 @@ synonym: "shock lung" EXACT [DOID:11394, GARD:0005698] synonym: "Stiff lung" RELATED [GARD:0005698] xref: EFO:1000637 {source="MONDO:equivalentTo"} xref: ICD10CM:J80 {source="MONDO:equivalentTo", source="DOID:11394", source="Orphanet:70578", source="Orphanet:70578/e"} +xref: icd11.foundation:1189702844 {source="MONDO:equivalentTo"} xref: MedDRA:10001052 {source="EFO:1000637"} xref: NCIT:C3353 {source="MONDO:equivalentTo", source="DOID:11394", source="EFO:1000637"} xref: SCTID:155627006 {source="DOID:11394"} @@ -121277,6 +122191,7 @@ xref: EFO:1000652 {source="MONDO:equivalentTo"} xref: HP:0001735 {source="EFO:1000652", source="MONDO:otherHierarchy"} xref: ICD10CM:K85 {source="DOID:2913"} xref: ICD10CM:K85.9 {source="DOID:2913"} +xref: icd11.foundation:698285441 {source="MONDO:equivalentTo"} xref: ICD9:577.0 {source="DOID:2913"} xref: NCIT:C95437 {source="MONDO:equivalentTo", source="DOID:2913"} xref: SCTID:155834006 {source="DOID:2913"} @@ -121460,6 +122375,7 @@ synonym: "primary diffuse atrophy" EXACT [DOID:0060344] xref: DOID:0060344 {source="MONDO:equivalentTo", source="EFO:1000665"} xref: EFO:1000665 {source="MONDO:equivalentTo"} xref: ICD10CM:L90.4 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1761234822 {source="MONDO:equivalentTo"} xref: ICD9:701.8 {source="MONDO:relatedTo", source="DOID:0060344", source="MONDO:i2s"} xref: SCTID:201079006 {source="DOID:0060344"} xref: SCTID:201088002 {source="DOID:0060344"} @@ -121478,6 +122394,7 @@ xref: DOID:3042 {source="MONDO:equivalentTo", source="EFO:1000668"} xref: EFO:1000668 {source="MONDO:equivalentTo"} xref: ICD10CM:L23 {source="MONDO:equivalentTo", source="DOID:3042"} xref: ICD10CM:L23.9 {source="DOID:3042"} +xref: icd11.foundation:2020673786 {source="MONDO:equivalentTo"} xref: ICD9:692.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D017449 {source="MONDO:equivalentTo", source="DOID:3042"} xref: NCIT:C26998 {source="MONDO:equivalentTo", source="DOID:3042"} @@ -121619,6 +122536,7 @@ synonym: "unspecified cholesteatoma (morphologic abnormality)" EXACT [DOID:10964 xref: DOID:10964 {source="MONDO:equivalentTo", source="EFO:1000678"} xref: EFO:1000678 {source="MONDO:equivalentTo"} xref: ICD10CM:H71 {source="DOID:10964", source="MONDO:equivalentTo"} +xref: icd11.foundation:2134365487 {source="MONDO:equivalentTo"} xref: ICD9:385.3 {source="DOID:10964"} xref: ICD9:385.32 {source="DOID:10964"} xref: ICD9:385.33 {source="DOID:10964", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -121643,6 +122561,7 @@ def: "A type of physical urticarias (or hives) that appears when a person is swe xref: DOID:14443 {source="MONDO:equivalentTo", source="EFO:1000679"} xref: EFO:1000679 {source="MONDO:equivalentTo"} xref: ICD10CM:L50.5 {source="MONDO:equivalentTo", source="DOID:14443"} +xref: icd11.foundation:855107748 {source="MONDO:equivalentTo"} xref: ICD9:708.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14443"} xref: SCTID:73098005 {source="MONDO:equivalentTo", source="DOID:14443"} xref: UMLS:C0152230 {source="MONDO:equivalentTo", source="DOID:14443"} @@ -121813,6 +122732,7 @@ synonym: "fifth disease" EXACT [DOID:8743] xref: DOID:8743 {source="EFO:1000693", source="MONDO:equivalentTo"} xref: EFO:1000693 {source="MONDO:equivalentTo"} xref: ICD10CM:B08.3 {source="DOID:8743"} +xref: icd11.foundation:352375140 {source="MONDO:equivalentTo"} xref: ICD9:057.0 {source="DOID:8743", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D016731 {source="DOID:8743", source="MONDO:equivalentTo"} xref: NCIT:C84695 {source="DOID:8743", source="MONDO:equivalentTo"} @@ -121839,6 +122759,7 @@ xref: DOID:0050185 {source="EFO:1000694", source="MONDO:equivalentTo"} xref: EFO:1000694 {source="MONDO:equivalentTo"} xref: ICD10CM:L49-L54 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:L51 {source="MONDO:equivalentTo"} +xref: icd11.foundation:364669853 {source="MONDO:equivalentTo"} xref: ICD9:695.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:695.10 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D004892 {source="MONDO:equivalentTo"} @@ -122040,6 +122961,7 @@ synonym: "Granulome annulare" EXACT [DOID:3777] xref: DOID:3777 {source="MONDO:equivalentTo", source="EFO:1000704"} xref: EFO:1000704 {source="MONDO:equivalentTo"} xref: ICD10CM:L92.0 {source="DOID:3777", source="MONDO:equivalentTo"} +xref: icd11.foundation:1925637202 {source="MONDO:equivalentTo"} xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016460 {source="DOID:3777", source="MONDO:equivalentTo"} xref: NCIT:C3470 {source="DOID:3777", source="MONDO:equivalentTo"} @@ -122163,6 +123085,7 @@ xref: DOID:2280 {source="MONDO:equivalentTo", source="EFO:1000710"} xref: DOID:2282 {source="EFO:1000710"} xref: EFO:1000710 {source="MONDO:equivalentTo"} xref: ICD10CM:L73.2 {source="MONDO:equivalentTo", source="DOID:2280"} +xref: icd11.foundation:1621794154 {source="MONDO:equivalentTo"} xref: MESH:D017497 {source="MONDO:equivalentTo", source="DOID:2280"} xref: Orphanet:387 {source="MONDO:equivalentObsolete"} xref: SCTID:156417004 {source="DOID:2280"} @@ -122236,6 +123159,7 @@ synonym: "inverted folicular keratosis" EXACT [DOID:6945] synonym: "inverted follicular keratosis" EXACT [DOID:6945, NCIT:C9007] xref: DOID:6945 {source="EFO:1000717", source="MONDO:equivalentTo"} xref: EFO:1000717 {source="MONDO:equivalentTo"} +xref: icd11.foundation:2109084329 {source="MONDO:equivalentTo"} xref: ICD9:264.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C9007 {source="DOID:6945", source="MONDO:equivalentTo"} xref: SCTID:15112009 {source="DOID:6945"} @@ -122308,6 +123232,7 @@ synonym: "kernicterus related to isoimmunization" EXACT [NCIT:C101270] xref: DOID:12043 {source="MONDO:equivalentTo", source="EFO:1000721"} xref: EFO:1000721 {source="MONDO:equivalentTo"} xref: ICD10CM:P57.0 {source="MONDO:equivalentTo", source="DOID:12043"} +xref: icd11.foundation:1111245443 {source="MONDO:equivalentTo"} xref: ICD9:773.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12043"} xref: NCIT:C101270 {source="MONDO:equivalentTo", source="DOID:12043"} xref: SCTID:157135006 {source="DOID:12043"} @@ -122362,6 +123287,7 @@ synonym: "Pinkus' disease" EXACT [DOID:8573] xref: DOID:8573 {source="MONDO:equivalentTo", source="EFO:1000725"} xref: EFO:1000725 {source="MONDO:equivalentTo"} xref: ICD10CM:L44.1 {source="MONDO:equivalentTo", source="DOID:8573"} +xref: icd11.foundation:525392264 {source="MONDO:equivalentTo"} xref: ICD9:697.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8573"} xref: MESH:D017513 {source="MONDO:equivalentTo", source="DOID:8573"} xref: SCTID:25147002 {source="MONDO:relatedTo", source="DOID:8573"} @@ -122381,6 +123307,7 @@ xref: DOID:9201 {source="MONDO:equivalentTo", source="EFO:1000726"} xref: EFO:1000726 {source="MONDO:equivalentTo"} xref: ICD10CM:L43 {source="MONDO:equivalentTo", source="DOID:9201"} xref: ICD10CM:L43.9 {source="DOID:9201"} +xref: icd11.foundation:1402978031 {source="MONDO:equivalentTo"} xref: ICD9:697.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9201"} xref: MESH:D008010 {source="MONDO:equivalentTo", source="DOID:9201"} xref: NCIT:C3189 {source="MONDO:equivalentTo", source="DOID:9201"} @@ -122513,6 +123440,7 @@ synonym: "prickly heat" EXACT [NCIT:C34820] xref: DOID:1382 {source="MONDO:equivalentTo", source="EFO:1000734"} xref: EFO:1000734 {source="MONDO:equivalentTo"} xref: ICD10CM:L74.3 {source="DOID:1382"} +xref: icd11.foundation:204420062 {source="MONDO:equivalentTo"} xref: MESH:D008883 {source="MONDO:equivalentTo", source="DOID:1382"} xref: NCIT:C34820 {source="MONDO:equivalentTo", source="DOID:1382"} xref: SCTID:201196009 {source="DOID:1382"} @@ -122534,6 +123462,7 @@ xref: DOID:11153 {source="MONDO:equivalentTo", source="EFO:1000735"} xref: EFO:1000735 {source="MONDO:equivalentTo"} xref: ICD10CM:L74.0 {source="DOID:11153"} xref: ICD10CM:L74.2 {source="DOID:11153"} +xref: icd11.foundation:1245016385 {source="MONDO:equivalentTo"} xref: ICD9:705.1 {source="DOID:11153"} xref: MESH:D008883 {source="DOID:11153"} xref: SCTID:156415007 {source="DOID:11153"} @@ -122580,6 +123509,7 @@ xref: DOID:3486 {source="EFO:1000738", source="MONDO:equivalentTo"} xref: EFO:1000738 {source="MONDO:equivalentTo"} xref: GARD:13040 {source="Orphanet:542592"} xref: ICD10CM:L92.1 {source="GARD:0013040"} +xref: icd11.foundation:655608138 {source="MONDO:equivalentTo"} xref: icd11.foundation:655608138 {source="MONDO:equivalentTo", source="Orphanet:542592"} xref: MESH:D009335 {source="DOID:3486", source="MONDO:equivalentTo"} xref: NCIT:C34840 {source="DOID:3486", source="MONDO:equivalentTo"} @@ -122727,6 +123657,7 @@ synonym: "subcutis" EXACT [NCIT:C33645] xref: DOID:1526 {source="MONDO:equivalentTo", source="EFO:1000746"} xref: EFO:1000746 {source="MONDO:equivalentTo"} xref: ICD10CM:M79.3 {source="DOID:1526"} +xref: icd11.foundation:1056888958 {source="MONDO:equivalentTo"} xref: ICD9:729.3 {source="DOID:1526"} xref: ICD9:729.30 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1526"} xref: ICD9:729.39 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -122800,6 +123731,7 @@ xref: DOID:9182 {source="EFO:1000749", source="MONDO:equivalentTo"} xref: EFO:1000749 {source="MONDO:equivalentTo"} xref: ICD10CM:L10 {source="DOID:9182", source="MONDO:equivalentTo"} xref: ICD10CM:L10.9 {source="DOID:9182"} +xref: icd11.foundation:191659986 {source="MONDO:equivalentTo"} xref: ICD9:694.4 {source="DOID:9182", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D010392 {source="DOID:9182", source="MONDO:equivalentTo"} xref: NCIT:C34909 {source="DOID:9182", source="MONDO:equivalentTo"} @@ -122923,6 +123855,7 @@ synonym: "Pityriasis rosea" EXACT [DOID:8892, NCIT:C26855] xref: DOID:8892 {source="MONDO:equivalentTo", source="EFO:1000756"} xref: EFO:1000756 {source="MONDO:equivalentTo"} xref: ICD10CM:L42 {source="MONDO:equivalentTo", source="DOID:8892"} +xref: icd11.foundation:919892859 {source="MONDO:equivalentTo"} xref: ICD9:696.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8892"} xref: MESH:D017515 {source="MONDO:equivalentTo", source="DOID:8892"} xref: NCIT:C26855 {source="MONDO:equivalentTo", source="DOID:8892"} @@ -122995,6 +123928,7 @@ xref: DOID:8881 {source="EFO:1000760", source="MONDO:equivalentTo"} xref: EFO:1000760 {source="MONDO:equivalentTo"} xref: ICD10CM:L71 {source="MONDO:equivalentTo", source="DOID:8881"} xref: ICD10CM:L71.9 {source="DOID:8881"} +xref: icd11.foundation:134161404 {source="MONDO:equivalentTo"} xref: ICD9:695.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8881"} xref: MESH:D012393 {source="MONDO:equivalentTo", source="DOID:8881"} xref: NCIT:C97136 {source="MONDO:equivalentTo", source="DOID:8881"} @@ -123242,6 +124176,7 @@ xref: DOID:8508 {source="EFO:1000771", source="MONDO:equivalentTo"} xref: EFO:1000771 {source="MONDO:equivalentTo"} xref: GARD:13606 {source="Orphanet:48377"} xref: ICD10CM:L13.1 {source="Orphanet:48377/e", source="DOID:8508", source="Orphanet:48377"} +xref: icd11.foundation:1952122675 {source="MONDO:equivalentTo"} xref: ICD9:694.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8508"} xref: MedDRA:10042342 {source="Orphanet:48377/e", source="Orphanet:48377"} xref: MESH:D012872 {source="MONDO:relatedTo", source="DOID:8508"} @@ -123431,6 +124366,7 @@ synonym: "overactive bladder (disease)" EXACT [https://orcid.org/0000-0002-6601- xref: DOID:0070355 {source="MONDO:equivalentTo"} xref: EFO:1000781 {source="MONDO:equivalentTo"} xref: HP:0000012 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:1118102209 {source="MONDO:equivalentTo"} xref: ICD9:596.51 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10020853 {source="EFO:1000781"} xref: MESH:D053201 {source="EFO:1000781", source="MONDO:equivalentTo"} @@ -123444,6 +124380,7 @@ name: altitude sickness def: "Multiple symptoms associated with reduced oxygen at high altitude." [MESH:D000532] xref: EFO:1000782 {source="MONDO:equivalentTo"} xref: ICD10CM:T70.2 {source="EFO:1000782"} +xref: icd11.foundation:987050905 {source="MONDO:equivalentTo"} xref: MESH:D000532 {source="EFO:1000782", source="MONDO:equivalentTo"} xref: Wikipedia:Altitude_sickness {source="EFO:1000782"} is_a: MONDO:0005087 {source="https://github.com/monarch-initiative/mondo/issues/1013"} ! respiratory system disorder @@ -123843,6 +124780,7 @@ synonym: "alcoholic neuropathy" EXACT [DOID:14183] xref: DOID:14183 {source="MONDO:equivalentTo", source="EFO:1000803"} xref: EFO:1000803 {source="MONDO:equivalentTo"} xref: ICD10CM:G62.1 {source="DOID:14183", source="MONDO:equivalentTo"} +xref: icd11.foundation:597341977 {source="MONDO:equivalentTo"} xref: ICD9:357.5 {source="DOID:14183", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D020269 {source="DOID:14183", source="MONDO:equivalentTo", source="EFO:1000803"} xref: NCIT:C26926 {source="DOID:14183", source="MONDO:equivalentTo"} @@ -123917,6 +124855,7 @@ synonym: "optic disk infarction leading to vision loss" RELATED [] xref: DOID:12010 {source="EFO:1000809", source="MONDO:equivalentTo"} xref: EFO:1000809 {source="MONDO:equivalentTo"} xref: ICD10CM:H47.01 {source="DOID:12010"} +xref: icd11.foundation:632323575 {source="MONDO:equivalentTo"} xref: ICD9:377.41 {source="DOID:12010"} xref: MedDRA:10068250 {source="EFO:1000809"} xref: MESH:D018917 {source="EFO:1000809", source="MONDO:equivalentTo", source="DOID:12010"} @@ -123966,6 +124905,7 @@ xref: ICD10CM:H20.2 {source="Orphanet:280886/btnt", source="Orphanet:280886"} xref: ICD10CM:H20.8 {source="Orphanet:280886/btnt", source="Orphanet:280886"} xref: ICD10CM:H20.9 {source="Orphanet:280886/btnt", source="Orphanet:280886"} xref: icd11.foundation:908233081 {source="MONDO:equivalentTo", source="Orphanet:280886"} +xref: icd11.foundation:908233081 {source="MONDO:equivalentTo"} xref: MedDRA:10002709 {source="Orphanet:280886/e", source="EFO:1000811", source="Orphanet:280886"} xref: MESH:D014606 {source="MONDO:equivalentTo", source="DOID:1407", source="EFO:1000811"} xref: NCIT:C35109 {source="MONDO:equivalentTo", source="DOID:1407", source="EFO:1000811", source="NCIT:C35109"} @@ -124000,6 +124940,7 @@ synonym: "myocardial infarctions, anterolateral" RELATED [MESH:D056988] synonym: "myocardial infarctions, anteroseptal" RELATED [MESH:D056988] xref: DOID:5845 {source="MONDO:equivalentTo", source="EFO:1000812"} xref: EFO:1000812 {source="MONDO:equivalentTo"} +xref: icd11.foundation:687792216 {source="MONDO:equivalentTo"} xref: MedDRA:10068109 {source="EFO:1000812"} xref: MESH:D056988 {source="DOID:5845", source="MONDO:equivalentTo", source="EFO:1000812"} xref: UMLS:C0262564 {source="DOID:5845", source="MONDO:equivalentTo"} @@ -124161,6 +125102,7 @@ synonym: "aseptic meningitis" EXACT [DOID:12157] xref: DOID:12157 {source="MONDO:equivalentTo", source="EFO:1000823"} xref: EFO:1000823 {source="MONDO:equivalentTo"} xref: ICD10CM:G03.0 {source="DOID:12157"} +xref: icd11.foundation:453360366 {source="MONDO:equivalentTo"} xref: MedDRA:10003458 {source="EFO:1000823"} xref: MESH:D008582 {source="MONDO:equivalentTo", source="DOID:12157", source="EFO:1000823"} xref: NCIT:C118299 {source="MONDO:equivalentTo", source="DOID:12157", source="EFO:1000823"} @@ -124298,6 +125240,7 @@ synonym: "thyroid gland atrophy" EXACT [NCIT:C26942] xref: DOID:2853 {source="EFO:1000827", source="MONDO:obsolete"} xref: EFO:1000827 {source="MONDO:equivalentTo"} xref: ICD10CM:E03.4 {source="EFO:1000827"} +xref: icd11.foundation:1827568994 {source="MONDO:equivalentTo"} xref: ICD9:246.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10043693 {source="EFO:1000827"} xref: MESH:D050033 {source="EFO:1000827"} @@ -124323,6 +125266,7 @@ synonym: "purulent conjunctivitis" EXACT [DOID:9700] xref: DOID:9700 {source="EFO:1000829", source="MONDO:equivalentTo"} xref: EFO:1000829 {source="MONDO:equivalentTo"} xref: ICD10CM:H10.0 {source="DOID:9700"} +xref: icd11.foundation:902481358 {source="MONDO:equivalentTo"} xref: ICD9:372.03 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10061784 {source="EFO:1000829"} xref: MESH:D003234 {source="DOID:9700", source="EFO:1000829", source="MONDO:equivalentTo"} @@ -124353,6 +125297,7 @@ synonym: "bacterial endocarditis (disease)" EXACT [https://orcid.org/0000-0002-6 xref: DOID:762 {source="EFO:1000830", source="MONDO:obsolete"} xref: EFO:1000830 {source="MONDO:equivalentTo"} xref: HP:0006689 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:1924438986 {source="MONDO:equivalentTo"} xref: MedDRA:10004019 {source="EFO:1000830"} xref: MESH:D004697 {source="MONDO:equivalentTo", source="EFO:1000830"} xref: NCIT:C128359 {source="MONDO:equivalentTo"} @@ -124377,6 +125322,7 @@ xref: DOID:9470 {source="MONDO:equivalentTo", source="EFO:1000831"} xref: EFO:1000831 {source="MONDO:equivalentTo"} xref: ICD10CM:G00 {source="DOID:9470"} xref: ICD10CM:G00.9 {source="DOID:9470"} +xref: icd11.foundation:684930313 {source="MONDO:equivalentTo"} xref: ICD9:320 {source="DOID:9470", source="EFO:1000831"} xref: ICD9:320.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:320.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -124506,6 +125452,7 @@ xref: DOID:13725 {source="EFO:1000837", source="MONDO:equivalentTo", source="MON xref: EFO:1000837 {source="MONDO:equivalentTo"} xref: ICD10CM:E51.1 {source="EFO:1000837", source="DOID:13725"} xref: ICD10CM:E51.11 {source="DOID:13725"} +xref: icd11.foundation:632832064 {source="MONDO:equivalentTo"} xref: ICD9:265.0 {source="DOID:13725", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10004482 {source="EFO:1000837"} xref: MESH:D001602 {source="EFO:1000837", source="DOID:13725", source="MONDO:equivalentTo"} @@ -124556,6 +125503,7 @@ synonym: "obstruction of bladder neck or vesicourethral orifice" EXACT [DOID:139 xref: DOID:13948 {source="MONDO:equivalentTo", source="EFO:1000840"} xref: EFO:1000840 {source="MONDO:equivalentTo"} xref: ICD10CM:N32.0 {source="MONDO:equivalentTo", source="DOID:13948"} +xref: icd11.foundation:441939472 {source="MONDO:equivalentTo"} xref: ICD9:596.0 {source="MONDO:equivalentTo", source="DOID:13948", source="MONDO:i2s"} xref: MedDRA:10005053 {source="EFO:1000840"} xref: MESH:D001748 {source="MONDO:equivalentTo", source="DOID:13948", source="EFO:1000840"} @@ -124732,6 +125680,7 @@ xref: EFO:1000850 {source="MONDO:equivalentTo"} xref: GARD:5974 {source="Orphanet:353253"} xref: ICD10CM:K14.6 {source="Orphanet:353253", source="Orphanet:353253/btnt"} xref: icd11.foundation:618998878 {source="Orphanet:353253", source="MONDO:equivalentTo"} +xref: icd11.foundation:618998878 {source="MONDO:equivalentTo"} xref: MedDRA:10068065 {source="EFO:1000850"} xref: MESH:D002054 {source="DOID:4331", source="EFO:1000850", source="MONDO:equivalentTo"} xref: NCIT:C62545 {source="DOID:4331", source="EFO:1000850", source="MONDO:equivalentTo"} @@ -124759,6 +125708,7 @@ synonym: "textile worker's lung" NARROW [https://orcid.org/0000-0001-5208-3432] xref: DOID:10323 {source="MONDO:equivalentTo", source="EFO:1000851"} xref: EFO:1000851 {source="MONDO:equivalentTo"} xref: ICD10CM:J66.0 {source="DOID:10323", source="MONDO:equivalentTo", source="EFO:1000851"} +xref: icd11.foundation:994284974 {source="MONDO:equivalentTo"} xref: ICD9:504 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10006822 {source="EFO:1000851"} xref: MESH:D002095 {source="DOID:10323", source="MONDO:equivalentTo", source="EFO:1000851"} @@ -124812,6 +125762,7 @@ synonym: "osmotic demyelination syndrome" EXACT [DOID:636] xref: DOID:636 {source="MONDO:equivalentTo", source="EFO:1000857"} xref: EFO:1000857 {source="MONDO:equivalentTo"} xref: ICD10CM:G37.2 {source="DOID:636", source="MONDO:equivalentTo", source="EFO:1000857"} +xref: icd11.foundation:558060012 {source="MONDO:equivalentTo"} xref: ICD9:341.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10007968 {source="EFO:1000857"} xref: MESH:D017590 {source="DOID:636", source="MONDO:equivalentTo", source="EFO:1000857"} @@ -124838,6 +125789,7 @@ synonym: "cerebral atherosclerosis" EXACT [DOID:12720, ICD9CM:437.0] xref: DOID:12720 {source="MONDO:equivalentTo", source="EFO:1000860"} xref: EFO:1000860 {source="MONDO:equivalentTo"} xref: ICD10CM:I67.2 {source="MONDO:equivalentTo", source="EFO:1000860", source="DOID:12720"} +xref: icd11.foundation:1710003414 {source="MONDO:equivalentTo"} xref: ICD9:437.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12720"} xref: MedDRA:1008095 {source="EFO:1000860"} xref: MESH:D002537 {source="MONDO:relatedTo", source="EFO:1000860", source="DOID:12720"} @@ -124962,6 +125914,7 @@ synonym: "pituitary chromophobe adenoma" EXACT [NCIT:C2857] synonym: "pituitary gland chromophobe adenoma" EXACT [NCIT:C2857] xref: DOID:3828 {source="MONDO:equivalentTo", source="EFO:1000867"} xref: EFO:1000867 {source="MONDO:equivalentTo"} +xref: icd11.foundation:74644355 {source="MONDO:equivalentTo"} xref: ICDO:8270/0 {source="NCIT:C2857"} xref: MESH:D000238 {source="MONDO:equivalentTo", source="EFO:1000867", source="DOID:3828"} xref: NCIT:C2857 {source="MONDO:equivalentTo", source="EFO:1000867", source="DOID:3828"} @@ -125147,6 +126100,7 @@ synonym: "constrictive pericarditis (disease)" EXACT [https://orcid.org/0000-000 xref: DOID:11481 {source="MONDO:equivalentTo", source="EFO:1000878"} xref: EFO:1000878 {source="MONDO:equivalentTo"} xref: HP:0002563 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:1722995229 {source="MONDO:equivalentTo"} xref: ICD9:423.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11481", source="EFO:1000878"} xref: MedDRA:10010783 {source="EFO:1000878"} xref: MESH:D010494 {source="MONDO:equivalentTo", source="DOID:11481", source="EFO:1000878"} @@ -125187,6 +126141,7 @@ xref: DOID:11382 {source="EFO:1000880", source="MONDO:equivalentTo"} xref: EFO:1000880 {source="MONDO:equivalentTo"} xref: ICD10CM:H16.4 {source="DOID:11382"} xref: ICD10CM:H16.40 {source="DOID:11382"} +xref: icd11.foundation:2077068570 {source="MONDO:equivalentTo"} xref: ICD9:370.6 {source="EFO:1000880", source="DOID:11382"} xref: ICD9:370.60 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11382"} xref: MedDRA:10011031 {source="EFO:1000880"} @@ -125671,6 +126626,7 @@ synonym: "solid-cystic hidradenoma" RELATED [MESH:D018250] synonym: "solid-cystic Hidradenomas" RELATED [MESH:D018250] xref: DOID:5442 {source="MONDO:equivalentTo", source="EFO:1000912"} xref: EFO:1000912 {source="MONDO:equivalentTo"} +xref: icd11.foundation:574927412 {source="MONDO:equivalentTo"} xref: MESH:D018250 {source="DOID:5442", source="MONDO:equivalentTo", source="EFO:1000912"} xref: NCIT:C27273 {source="MONDO:equivalentTo", source="ONCOTREE:PORO"} xref: NCIT:C7568 {source="DOID:5442", source="MONDO:relatedTo"} @@ -125708,6 +126664,7 @@ synonym: "empty sella syndrome" EXACT [DOID:3642] synonym: "empty sella turcica" RELATED [GARD:0006331] xref: DOID:3642 {source="EFO:1000914", source="MONDO:equivalentTo"} xref: EFO:1000914 {source="MONDO:equivalentTo"} +xref: icd11.foundation:49112094 {source="MONDO:equivalentTo"} xref: ICD9:253.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10014567 {source="EFO:1000914"} xref: MESH:D004652 {source="EFO:1000914", source="DOID:3642", source="MONDO:equivalentTo"} @@ -125726,6 +126683,7 @@ name: encephalomalacia def: "Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation." [NCIT:P378] xref: DOID:2034 {source="EFO:1000915", source="MONDO:equivalentTo"} xref: EFO:1000915 {source="MONDO:equivalentTo"} +xref: icd11.foundation:689481271 {source="MONDO:equivalentTo"} xref: MedDRA:10051818 {source="EFO:1000915"} xref: MESH:D004678 {source="EFO:1000915", source="DOID:2034", source="MONDO:equivalentTo"} xref: NCIT:C98920 {source="EFO:1000915", source="DOID:2034", source="MONDO:equivalentTo"} @@ -125849,6 +126807,7 @@ synonym: "endomyocardial sclerosis" EXACT [DOID:12932] synonym: "obscure African cardiomyopathy" EXACT [DOID:12932] xref: DOID:12932 {source="MONDO:equivalentTo", source="EFO:1000921"} xref: EFO:1000921 {source="MONDO:equivalentTo"} +xref: icd11.foundation:365224859 {source="MONDO:equivalentTo"} xref: ICD9:425.0 {source="DOID:12932"} xref: MedDRA:10014800 {source="EFO:1000921"} xref: MESH:D004719 {source="DOID:12932", source="MONDO:equivalentTo", source="EFO:1000921"} @@ -125892,6 +126851,7 @@ name: epilepsia partialis continua def: "A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. electroencephalography demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the cerebral cortex or from subcortical structures (e.g., brain stem; basal ganglia). This condition is associated with Russian Spring and Summer encephalitis (see encephalitis, tick borne); Rasmussen syndrome (see encephalitis); multiple sclerosis; diabetes mellitus; brain neoplasms; and cerebrovascular disorders. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)" [MESH:D017036] xref: DOID:11349 {source="MONDO:obsolete", source="EFO:1000924"} xref: EFO:1000924 {source="MONDO:equivalentTo"} +xref: icd11.foundation:669338526 {source="MONDO:equivalentTo"} xref: ICD9:345.7 {source="EFO:1000924"} xref: ICD9:345.70 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10015034 {source="EFO:1000924"} @@ -125908,6 +126868,7 @@ subset: rare synonym: "mixed epithelioid and spindle cell melanoma" EXACT [NCIT:C66756] xref: DOID:2413 {source="EFO:1000925", source="MONDO:obsolete"} xref: EFO:1000925 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1192627962 {source="MONDO:equivalentTo"} xref: ICDO:8770/3 {source="NCIT:C66756"} xref: MESH:D018332 {source="EFO:1000925", source="MONDO:equivalentTo"} xref: NCIT:C66756 {source="EFO:1000925", source="MONDO:equivalentTo"} @@ -126181,6 +127142,7 @@ synonym: "Fungi caused infectious meningitis" EXACT [MONDO:patterns/specific_inf synonym: "Fungi infectious meningitis" EXACT [] xref: DOID:11608 {source="MONDO:equivalentTo", source="EFO:1000942"} xref: EFO:1000942 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1137081791 {source="MONDO:equivalentTo"} xref: ICD9:117.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:321.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10017538 {source="EFO:1000942"} @@ -126262,6 +127224,7 @@ xref: DOID:11914 {source="EFO:1000948", source="MONDO:equivalentTo"} xref: EFO:1000948 {source="MONDO:equivalentTo"} xref: HP:0002578 {source="MONDO:otherHierarchy"} xref: ICD10CM:K31.84 {source="DOID:11914", source="MONDO:equivalentTo"} +xref: icd11.foundation:598423727 {source="MONDO:equivalentTo"} xref: ICD9:536.3 {source="DOID:11914"} xref: MedDRA:10018043 {source="EFO:1000948"} xref: MESH:D018589 {source="EFO:1000948", source="DOID:11914", source="MONDO:equivalentTo"} @@ -126304,6 +127267,7 @@ synonym: "tongue inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_sit xref: DOID:1456 {source="MONDO:equivalentTo", source="EFO:1000951"} xref: EFO:1000951 {source="MONDO:equivalentTo"} xref: ICD10CM:K14.0 {source="DOID:1456", source="MONDO:equivalentTo"} +xref: icd11.foundation:843084384 {source="MONDO:equivalentTo"} xref: ICD9:529.0 {source="DOID:1456", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1000951"} xref: MedDRA:10018386 {source="EFO:1000951"} xref: MESH:D005928 {source="DOID:1456", source="MONDO:equivalentTo", source="EFO:1000951"} @@ -126519,6 +127483,7 @@ synonym: "hepatic vein thrombosis" EXACT [DOID:11512] xref: DOID:11512 {source="MONDO:equivalentTo", source="EFO:1000966"} xref: EFO:1000966 {source="MONDO:equivalentTo"} xref: ICD10CM:I82.0 {source="DOID:11512", source="MONDO:relatedTo"} +xref: icd11.foundation:2131410813 {source="MONDO:equivalentTo"} xref: ICD9:453.0 {source="MONDO:relatedTo", source="EFO:1000966"} xref: MedDRA:10006537 {source="EFO:1000966"} xref: MedDRA:10019713 {source="EFO:1000966"} @@ -126543,6 +127508,8 @@ synonym: "hidrocystoma (morphologic abnormality)" EXACT [DOID:3893] synonym: "Hydrocystoma" EXACT [NCIT:C3760] xref: DOID:3893 {source="MONDO:equivalentTo", source="EFO:1000967"} xref: EFO:1000967 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1303709853 {source="MONDO:equivalentTo"} +xref: icd11.foundation:2040265542 {source="MONDO:equivalentTo"} xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8404/0 {source="NCIT:C3760"} xref: MedDRA:10059019 {source="EFO:1000967"} @@ -126708,6 +127675,7 @@ xref: DOID:6376 {source="MONDO:equivalentTo", source="EFO:1000975"} xref: EFO:1000975 {source="MONDO:equivalentTo"} xref: HP:0001971 {source="MONDO:otherHierarchy"} xref: ICD10CM:D73.1 {source="MONDO:equivalentTo", source="DOID:6376"} +xref: icd11.foundation:2093549625 {source="MONDO:equivalentTo"} xref: ICD9:289.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1000975", source="DOID:6376"} xref: MedDRA:10020769 {source="EFO:1000975"} xref: MESH:D006971 {source="MONDO:equivalentTo", source="EFO:1000975", source="DOID:6376"} @@ -126726,6 +127694,7 @@ def: "Encephalopathy resulting from hypertension." [NCIT:P378] xref: DOID:9427 {source="MONDO:equivalentTo", source="EFO:1000976"} xref: EFO:1000976 {source="MONDO:equivalentTo"} xref: ICD10CM:I67.4 {source="DOID:9427", source="MONDO:equivalentTo", source="EFO:1000976"} +xref: icd11.foundation:1934215896 {source="MONDO:equivalentTo"} xref: ICD9:437.2 {source="DOID:9427", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1000976"} xref: MedDRA:10020803 {source="EFO:1000976"} xref: MESH:D020343 {source="DOID:9427", source="MONDO:equivalentTo", source="EFO:1000976"} @@ -126747,6 +127716,7 @@ def: "Retinopathy due to hypertension." [NCIT:P378] xref: DOID:11561 {source="MONDO:equivalentTo", source="EFO:1000977"} xref: EFO:1000977 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.03 {source="DOID:11561"} +xref: icd11.foundation:218513628 {source="MONDO:equivalentTo"} xref: ICD9:362.11 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11561", source="EFO:1000977"} xref: MedDRA:10020839 {source="EFO:1000977"} xref: MESH:D058437 {source="MONDO:equivalentTo", source="DOID:11561", source="EFO:1000977"} @@ -126770,6 +127740,7 @@ synonym: "hypervitaminosis type A" EXACT [DOID:9972, EFO:1000978, MONDORULE:1] xref: DOID:9972 {source="MONDO:equivalentTo", source="EFO:1000978"} xref: EFO:1000978 {source="MONDO:equivalentTo"} xref: ICD10CM:E67.0 {source="MONDO:equivalentTo", source="DOID:9972", source="EFO:1000978"} +xref: icd11.foundation:1465667896 {source="MONDO:equivalentTo"} xref: ICD9:278.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9972", source="EFO:1000978"} xref: MedDRA:10020916 {source="EFO:1000978"} xref: MESH:D006986 {source="MONDO:equivalentTo", source="DOID:9972", source="EFO:1000978"} @@ -126796,6 +127767,7 @@ synonym: "tumour of hypothalamus" EXACT OMO:0003005 [] synonym: "tumour of the hypothalamus" EXACT OMO:0003005 [] xref: DOID:3644 {source="MONDO:equivalentTo", source="EFO:1000979"} xref: EFO:1000979 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1383549237 {source="MONDO:equivalentTo"} xref: MESH:D007029 {source="MONDO:equivalentTo", source="DOID:3644", source="EFO:1000979"} xref: NCIT:C3129 {source="MONDO:equivalentTo", source="DOID:3644", source="EFO:1000979"} xref: SCTID:254968009 {source="MONDO:equivalentTo", source="DOID:3644"} @@ -127060,6 +128032,7 @@ name: intracranial hypotension def: "Reduction of cerebrospinal fluid pressure characterized clinically by headache which is maximal in an upright posture and occasionally by an abducens nerve palsy (see abducens nerve diseases), neck stiffness, hearing loss (see deafness); nausea; and other symptoms. This condition may be spontaneous or secondary to spinal puncture; neurosurgical procedures; dehydration; uremia; trauma (see also craniocerebral trauma); and other processes. Chronic hypotension may be associated with subdural hematomas (see hematoma, subdural) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)" [MESH:D019585] xref: DOID:4723 {source="EFO:1000993", source="MONDO:equivalentTo"} xref: EFO:1000993 {source="MONDO:equivalentTo"} +xref: icd11.foundation:363695674 {source="MONDO:equivalentTo"} xref: ICD9:349.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10049977 {source="EFO:1000993"} xref: MESH:D019585 {source="DOID:4723", source="EFO:1000993", source="MONDO:equivalentTo"} @@ -127339,6 +128312,7 @@ xref: DOID:1921 {source="MONDO:equivalentTo", source="EFO:1001006"} xref: EFO:1001006 {source="MONDO:equivalentTo"} xref: ICD10CM:Q98.0 {source="DOID:1921"} xref: ICD10CM:Q98.4 {source="DOID:1921"} +xref: icd11.foundation:1937385304 {source="MONDO:equivalentTo"} xref: ICD9:758.7 {source="EFO:1001006", source="DOID:1921", source="MONDO:directSiblingOf"} xref: MedDRA:10023463 {source="EFO:1001006"} xref: MESH:D007713 {source="MONDO:equivalentTo", source="EFO:1001006", source="DOID:1921"} @@ -127387,6 +128361,7 @@ xref: GARD:7617 {source="Orphanet:454745"} xref: ICD10CM:A81.8 {source="Orphanet:454745", source="Orphanet:454745/ntbt"} xref: ICD10CM:A81.81 {source="DOID:648", source="MONDO:equivalentTo", source="EFO:1001008"} xref: icd11.foundation:553889510 {source="MONDO:equivalentTo", source="Orphanet:454745"} +xref: icd11.foundation:553889510 {source="MONDO:equivalentTo"} xref: ICD9:046.0 {source="DOID:648", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1001008"} xref: MedDRA:10023497 {source="EFO:1001008"} xref: MESH:D007729 {source="DOID:648", source="MONDO:equivalentTo", source="EFO:1001008"} @@ -127413,6 +128388,7 @@ synonym: "nutritional oedema with dyspigmentation of skin and/or hair" EXACT OMO xref: DOID:13579 {source="MONDO:equivalentTo", source="EFO:1001009"} xref: EFO:1001009 {source="MONDO:equivalentTo"} xref: ICD10CM:E40 {source="DOID:13579", source="MONDO:equivalentTo", source="EFO:1001009"} +xref: icd11.foundation:1656486805 {source="MONDO:equivalentTo"} xref: ICD9:260 {source="DOID:13579", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10023504 {source="EFO:1001009"} xref: MESH:D007732 {source="DOID:13579", source="MONDO:equivalentTo", source="EFO:1001009"} @@ -127436,6 +128412,7 @@ synonym: "Wallenberg's syndrome" EXACT [GARD:0009263, NCIT:C84807] xref: DOID:3522 {source="EFO:1001011", source="MONDO:equivalentTo"} xref: EFO:1001011 {source="MONDO:equivalentTo"} xref: ICD10CM:G46.3 {source="DOID:3522"} +xref: icd11.foundation:1606151456 {source="MONDO:equivalentTo"} xref: ICD9:437.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10024033 {source="EFO:1001011"} xref: MESH:D014854 {source="EFO:1001011", source="DOID:3522", source="MONDO:equivalentTo"} @@ -127721,6 +128698,7 @@ subset: inferred_rare subset: rare xref: DOID:5380 {source="EFO:1001023", source="MONDO:obsolete"} xref: EFO:1001023 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1292667822 {source="MONDO:equivalentTo"} xref: MedDRA:10025143 {source="EFO:1001023"} xref: MESH:D008177 {source="EFO:1001023", source="MONDO:equivalentTo"} xref: SCTID:10528009 {source="EFO:1001023", source="MONDO:equivalentTo"} @@ -127789,6 +128767,7 @@ synonym: "lymphangioleiomyoma" EXACT [NCIT:C3204] synonym: "lymphangiomyoma" EXACT [NCIT:C3204] xref: DOID:2642 {source="EFO:1001027", source="MONDO:obsolete"} xref: EFO:1001027 {source="MONDO:equivalentTo"} +xref: icd11.foundation:386709809 {source="MONDO:equivalentTo"} xref: ICDO:9174/0 {source="NCIT:C3204"} xref: MESH:D008203 {source="MONDO:equivalentTo", source="EFO:1001027"} xref: NCIT:C3204 {source="MONDO:equivalentTo", source="EFO:1001027"} @@ -128027,6 +129006,7 @@ subset: rare synonym: "mesenchymal chondrosarcoma" EXACT [NCIT:C3737] xref: DOID:4545 {source="EFO:1001041", source="MONDO:equivalentTo"} xref: EFO:1001041 {source="MONDO:equivalentTo"} +xref: icd11.foundation:572669867 {source="MONDO:equivalentTo"} xref: ICDO:9240/3 {source="NCIT:C3737"} xref: MedDRA:10027389 {source="EFO:1001041"} xref: MESH:D018211 {source="EFO:1001041", source="DOID:4545", source="MONDO:equivalentTo"} @@ -128171,6 +129151,8 @@ xref: GARD:12763 {source="Orphanet:86850"} xref: ICD10CM:C92.3 {source="Orphanet:86850", source="EFO:1001052", source="Orphanet:86850/ntbt", source="MONDO:equivalentTo", source="DOID:8683"} xref: ICD10CM:C92.30 {source="DOID:8683"} xref: icd11.foundation:1988933820 {source="Orphanet:86850", source="MONDO:equivalentTo"} +xref: icd11.foundation:1988933820 {source="MONDO:equivalentTo"} +xref: icd11.foundation:921720320 {source="MONDO:equivalentTo"} xref: ICD9:205.3 {source="EFO:1001052", source="DOID:8683"} xref: ICDO:9930/3 {source="NCIT:C3520"} xref: MedDRA:10028562 {source="EFO:1001052"} @@ -128216,6 +129198,7 @@ synonym: "myxosarcoma (morphologic abnormality)" EXACT [DOID:4136] synonym: "myxosarcoma, malignant" EXACT [NCIT:C3255] xref: DOID:4136 {source="EFO:1001056", source="MONDO:equivalentTo"} xref: EFO:1001056 {source="MONDO:equivalentTo"} +xref: icd11.foundation:778749756 {source="MONDO:equivalentTo"} xref: ICDO:8840/3 {source="NCIT:C3255"} xref: MESH:D009236 {source="DOID:4136", source="EFO:1001056", source="MONDO:equivalentTo"} xref: NCIT:C3255 {source="DOID:4136", source="EFO:1001056", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -128304,6 +129287,7 @@ subset: rare synonym: "neonatal myasthenia gravis" EXACT [DOID:14043, ICD9CM:775.2, MTH:NOCODE] xref: DOID:14043 {source="EFO:1001059", source="MONDO:equivalentTo"} xref: EFO:1001059 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1274860004 {source="MONDO:equivalentTo"} xref: ICD9:775.2 {source="DOID:14043", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10028963 {source="EFO:1001059"} xref: MESH:D020941 {source="DOID:14043", source="EFO:1001059", source="MONDO:equivalentTo"} @@ -128440,6 +129424,7 @@ def: "Abnormally high intraocular pressure." [NCIT:P378] xref: DOID:9282 {source="MONDO:equivalentTo", source="EFO:1001069"} xref: EFO:1001069 {source="MONDO:equivalentTo"} xref: ICD10CM:H40.05 {source="DOID:9282"} +xref: icd11.foundation:535283437 {source="MONDO:equivalentTo"} xref: ICD9:365.04 {source="MONDO:equivalentTo", source="DOID:9282", source="EFO:1001069", source="MONDO:i2s"} xref: MedDRA:10030043 {source="EFO:1001069"} xref: MESH:D009798 {source="MONDO:equivalentTo", source="DOID:9282", source="EFO:1001069"} @@ -128621,6 +129606,7 @@ synonym: "orbital cellulitis" EXACT [DOID:11234] xref: DOID:11234 {source="EFO:1001076", source="MONDO:equivalentTo"} xref: EFO:1001076 {source="MONDO:equivalentTo"} xref: ICD10CM:H05.01 {source="DOID:11234"} +xref: icd11.foundation:1330743591 {source="MONDO:equivalentTo"} xref: ICD9:376.01 {source="EFO:1001076", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11234"} xref: MedDRA:10031036 {source="EFO:1001076"} xref: MESH:D054517 {source="EFO:1001076", source="MONDO:equivalentTo", source="DOID:11234"} @@ -128720,6 +129706,7 @@ subset: inferred_rare subset: rare xref: DOID:13732 {source="MONDO:equivalentTo", source="EFO:1001081"} xref: EFO:1001081 {source="MONDO:equivalentTo"} +xref: icd11.foundation:349386559 {source="MONDO:equivalentTo"} xref: ICD9:360.02 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13732"} xref: MedDRA:10033683 {source="EFO:1001081"} xref: MESH:D010202 {source="MONDO:equivalentTo", source="EFO:1001081", source="DOID:13732"} @@ -128804,6 +129791,7 @@ def: "A condition in which the foreskin of an uncircumcised male is retracted an xref: DOID:5334 {source="EFO:1001086", source="MONDO:equivalentTo"} xref: EFO:1001086 {source="MONDO:equivalentTo"} xref: ICD10CM:N47.2 {source="DOID:5334", source="MONDO:equivalentTo"} +xref: icd11.foundation:452889019 {source="MONDO:equivalentTo"} xref: MedDRA:10033890 {source="EFO:1001086"} xref: MESH:D010263 {source="EFO:1001086", source="DOID:5334", source="MONDO:equivalentTo"} xref: NCIT:C34893 {source="EFO:1001086", source="DOID:5334", source="MONDO:equivalentTo"} @@ -128998,6 +129986,7 @@ name: pericoronitis def: "Inflammation of the gingiva surrounding the crown of a tooth." [MESH:D010497] xref: DOID:3671 {source="EFO:1001098", source="MONDO:equivalentTo"} xref: EFO:1001098 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1764886525 {source="MONDO:equivalentTo"} xref: MedDRA:10034504 {source="EFO:1001098"} xref: MESH:D010497 {source="DOID:3671", source="EFO:1001098", source="MONDO:equivalentTo"} xref: SCTID:22240003 {source="DOID:3671", source="EFO:1001098", source="MONDO:equivalentTo"} @@ -129078,6 +130067,7 @@ synonym: "tight frenulum" EXACT [DOID:2712] xref: DOID:2712 {source="MONDO:equivalentTo", source="EFO:1001104"} xref: EFO:1001104 {source="MONDO:equivalentTo"} xref: ICD10CM:N47.1 {source="MONDO:equivalentTo", source="DOID:2712"} +xref: icd11.foundation:184957512 {source="MONDO:equivalentTo"} xref: MedDRA:10034878 {source="EFO:1001104"} xref: MESH:D010688 {source="MONDO:equivalentTo", source="DOID:2712", source="EFO:1001104"} xref: NCIT:C26852 {source="MONDO:equivalentTo", source="DOID:2712", source="EFO:1001104"} @@ -129122,6 +130112,8 @@ synonym: "Infundibuloisthmicoma" EXACT [NCIT:C4468] synonym: "Pilar sheath acanthoma" EXACT [DOID:4322, NCIT:C4468] xref: DOID:4322 {source="MONDO:equivalentTo", source="EFO:1001107"} xref: EFO:1001107 {source="MONDO:equivalentTo"} +xref: icd11.foundation:100727368 {source="MONDO:equivalentTo"} +xref: icd11.foundation:281473034 {source="MONDO:equivalentTo"} xref: MESH:D049309 {source="DOID:4322", source="EFO:1001107"} xref: NCIT:C4468 {source="DOID:4322", source="MONDO:equivalentTo", source="EFO:1001107", source="MONDO:exact-label-match"} xref: SCTID:254693008 {source="DOID:4322", source="MONDO:equivalentTo", source="EFO:1001107"} @@ -129143,6 +130135,7 @@ xref: DOID:1129 {source="MONDO:equivalentTo", source="EFO:1001108"} xref: EFO:1001108 {source="MONDO:equivalentTo"} xref: GARD:19287 {source="Orphanet:95613"} xref: ICD10CM:E23.6 {source="Orphanet:95613", source="Orphanet:95613/ntbt"} +xref: icd11.foundation:1938573221 {source="MONDO:equivalentTo"} xref: ICD9:253.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10056447 {source="Orphanet:95613", source="EFO:1001108", source="Orphanet:95613/e"} xref: MESH:D010899 {source="MONDO:equivalentTo", source="Orphanet:95613", source="DOID:1129", source="EFO:1001108", source="Orphanet:95613/e"} @@ -129253,6 +130246,7 @@ def: "Abdominal symptoms after removal of the gallbladder. The common postoperat xref: DOID:9740 {source="MONDO:equivalentTo", source="EFO:1001117"} xref: EFO:1001117 {source="MONDO:equivalentTo"} xref: ICD10CM:K91.5 {source="MONDO:equivalentTo", source="EFO:1001117", source="DOID:9740"} +xref: icd11.foundation:157319976 {source="MONDO:equivalentTo"} xref: ICD9:576.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1001117", source="DOID:9740"} xref: MESH:D017562 {source="MONDO:equivalentTo", source="EFO:1001117", source="DOID:9740"} xref: SCTID:90782003 {source="MONDO:equivalentTo", source="EFO:1001117", source="DOID:9740"} @@ -129570,6 +130564,7 @@ synonym: "lymphocytic pseudotumor of lung" EXACT [DOID:3677] synonym: "sclerosing hemangiocytoma of lung" EXACT [DOID:3677] xref: DOID:3677 {source="MONDO:equivalentTo", source="EFO:1001135"} xref: EFO:1001135 {source="MONDO:equivalentTo"} +xref: icd11.foundation:215620908 {source="MONDO:equivalentTo"} xref: ICD9:518.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016726 {source="MONDO:equivalentTo", source="DOID:3677", source="EFO:1001135"} xref: SCTID:1648002 {source="MONDO:equivalentTo", source="DOID:3677"} @@ -129604,6 +130599,7 @@ name: pulmonary valve stenosis def: "The pathologic narrowing of the orifice of the pulmonary valve. This lesion restricts blood outflow from the right ventricle to the pulmonary artery. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete." [MESH:D011666] xref: DOID:6420 {source="MONDO:equivalentTo", source="EFO:1001138"} xref: EFO:1001138 {source="MONDO:equivalentTo"} +xref: icd11.foundation:611886666 {source="MONDO:equivalentTo"} xref: MedDRA:10037450 {source="EFO:1001138"} xref: MESH:D011666 {source="MONDO:equivalentTo", source="EFO:1001138", source="DOID:6420"} xref: SCTID:56786000 {source="DOID:6420"} @@ -129619,6 +130615,7 @@ synonym: "inflammation of dental pulp" EXACT [] xref: DOID:11121 {source="MONDO:equivalentTo", source="EFO:1001139"} xref: EFO:1001139 {source="MONDO:equivalentTo"} xref: ICD10CM:K04.0 {source="MONDO:equivalentTo", source="DOID:11121", source="EFO:1001139"} +xref: icd11.foundation:576344431 {source="MONDO:equivalentTo"} xref: ICD9:522.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11121", source="EFO:1001139"} xref: MedDRA:10037463 {source="EFO:1001139"} xref: MESH:D011671 {source="MONDO:equivalentTo", source="DOID:11121", source="EFO:1001139"} @@ -129853,6 +130850,7 @@ synonym: "retinal vasculitis" EXACT [DOID:11563, ICD9CM:362.18] xref: DOID:11563 {source="EFO:1001156", source="MONDO:equivalentTo"} xref: EFO:1001156 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.06 {source="DOID:11563"} +xref: icd11.foundation:1863208483 {source="MONDO:equivalentTo"} xref: ICD9:362.18 {source="EFO:1001156", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11563"} xref: MedDRA:10038905 {source="EFO:1001156"} xref: MESH:D031300 {source="EFO:1001156", source="MONDO:equivalentTo", source="DOID:11563"} @@ -129899,6 +130897,7 @@ xref: GARD:5695 {source="Orphanet:90050"} xref: ICD10CM:H35.1 {source="Orphanet:90050", source="EFO:1001158", source="Orphanet:90050/e", source="DOID:13025"} xref: ICD10CM:H35.10 {source="DOID:13025"} xref: ICD10CM:H35.17 {source="DOID:13025"} +xref: icd11.foundation:947283385 {source="MONDO:equivalentTo"} xref: icd11.foundation:947283385 {source="Orphanet:90050", source="MONDO:equivalentTo"} xref: ICD9:362.20 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13025"} xref: ICD9:362.21 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13025"} @@ -130140,6 +131139,7 @@ synonym: "secondary hyperparathyroidism NOS" NARROW [DOID:12466] xref: DOID:12466 {source="EFO:1001173", source="MONDO:equivalentTo"} xref: EFO:1001173 {source="MONDO:equivalentTo"} xref: HP:0000867 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:1442752937 {source="MONDO:equivalentTo"} xref: MedDRA:10020708 {source="EFO:1001173"} xref: MESH:D006962 {source="EFO:1001173", source="MONDO:equivalentTo", source="DOID:12466"} xref: NCIT:C113335 {source="EFO:1001173", source="MONDO:equivalentTo", source="DOID:12466"} @@ -130162,6 +131162,7 @@ synonym: "Marie Bamberger disease" EXACT [DOID:10393] xref: DOID:10393 {source="EFO:1001174", source="MONDO:equivalentTo"} xref: EFO:1001174 {source="MONDO:equivalentTo"} xref: ICD10CM:M89.4 {source="DOID:10393"} +xref: icd11.foundation:1325516156 {source="MONDO:equivalentTo"} xref: ICD9:731.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10393"} xref: MESH:D010005 {source="EFO:1001174", source="MONDO:equivalentTo", source="DOID:10393"} xref: SCTID:203357004 {source="MONDO:equivalentTo", source="DOID:10393"} @@ -130270,6 +131271,7 @@ synonym: "Stone of salivary gland or duct" EXACT [DOID:12905] xref: DOID:12905 {source="MONDO:equivalentTo", source="EFO:1001180"} xref: EFO:1001180 {source="MONDO:equivalentTo"} xref: ICD10CM:K11.5 {source="MONDO:equivalentTo", source="DOID:12905", source="EFO:1001180"} +xref: icd11.foundation:1984849248 {source="MONDO:equivalentTo"} xref: ICD9:527.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12905"} xref: MedDRA:10040631 {source="EFO:1001180"} xref: MESH:D015494 {source="MONDO:equivalentTo", source="DOID:12905", source="EFO:1001180"} @@ -130314,6 +131316,7 @@ synonym: "silo filler's disease" RELATED [DOID:4374] synonym: "silo-fillers' disease" EXACT [DOID:4374] xref: DOID:4374 {source="MONDO:equivalentTo", source="EFO:1001182"} xref: EFO:1001182 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1960063586 {source="MONDO:equivalentTo"} xref: MESH:D012832 {source="MONDO:equivalentTo", source="DOID:4374", source="EFO:1001182"} xref: SCTID:61233003 {source="MONDO:equivalentTo", source="DOID:4374"} xref: UMLS:C0037120 {source="MONDO:equivalentTo", source="DOID:4374"} @@ -130355,6 +131358,7 @@ synonym: "small cell sarcoma" EXACT [NCIT:C3746] synonym: "small cell sarcomas" EXACT [NCIT:C3746] xref: DOID:3098 {source="EFO:1001184", source="MONDO:equivalentTo"} xref: EFO:1001184 {source="MONDO:equivalentTo"} +xref: icd11.foundation:869059547 {source="MONDO:equivalentTo"} xref: ICDO:8803/3 {source="NCIT:C3746"} xref: MESH:D018228 {source="EFO:1001184", source="MONDO:equivalentTo", source="DOID:3098"} xref: NCIT:C3746 {source="EFO:1001184", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3098"} @@ -130424,6 +131428,8 @@ xref: DOID:4430 {source="EFO:1001187", source="MONDO:equivalentTo"} xref: EFO:1001187 {source="MONDO:equivalentTo"} xref: GARD:4900 {source="Orphanet:97283"} xref: ICD10CM:E16.8 {source="Orphanet:97283", source="Orphanet:97283/ntbt"} +xref: icd11.foundation:219879696 {source="MONDO:equivalentTo"} +xref: icd11.foundation:688119030 {source="MONDO:equivalentTo"} xref: ICD9:235.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8156/1 {source="NCIT:C3379"} xref: MedDRA:10041329 {source="Orphanet:97283/e", source="EFO:1001187", source="Orphanet:97283"} @@ -130447,6 +131453,7 @@ xref: EFO:1001189 {source="MONDO:equivalentTo"} xref: ICD10CM:N43.4 {source="DOID:11997", source="EFO:1001189", source="MONDO:equivalentTo"} xref: ICD10CM:N43.40 {source="DOID:11997"} xref: ICD10CM:N50.3 {source="DOID:11997"} +xref: icd11.foundation:1907004531 {source="MONDO:equivalentTo"} xref: ICD9:608.1 {source="DOID:11997", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10041490 {source="EFO:1001189"} xref: MESH:D013088 {source="DOID:11997", source="EFO:1001189", source="MONDO:equivalentTo"} @@ -130511,6 +131518,7 @@ synonym: "struma ovarii (morphologic abnormality)" EXACT [DOID:2640] synonym: "struma ovarii NOS (morphologic abnormality)" EXACT [DOID:2640] xref: DOID:2640 {source="MONDO:equivalentTo", source="EFO:1001192"} xref: EFO:1001192 {source="MONDO:equivalentTo"} +xref: icd11.foundation:185581438 {source="MONDO:equivalentTo"} xref: ICDO:9090/0 {source="NCIT:C7468"} xref: MESH:D013330 {source="DOID:2640", source="MONDO:equivalentTo", source="EFO:1001192"} xref: NCIT:C7468 {source="DOID:2640", source="MONDO:equivalentTo"} @@ -130532,6 +131540,7 @@ synonym: "Subacute bacterial endocarditis" EXACT [DOID:4562] synonym: "Subacute endocarditis, lenta" EXACT [DOID:4562] xref: DOID:4562 {source="MONDO:equivalentTo", source="EFO:1001193"} xref: EFO:1001193 {source="MONDO:equivalentTo"} +xref: icd11.foundation:933942548 {source="MONDO:equivalentTo"} xref: MedDRA:10042271 {source="EFO:1001193"} xref: MESH:D004698 {source="DOID:4562", source="MONDO:equivalentTo", source="EFO:1001193"} xref: NCIT:C34583 {source="DOID:4562", source="MONDO:equivalentTo", source="EFO:1001193"} @@ -130559,6 +131568,7 @@ synonym: "Subacute thyroiditis" EXACT [DOID:7165, NCIT:C35071] xref: DOID:7165 {source="MONDO:equivalentTo", source="EFO:1001194"} xref: EFO:1001194 {source="MONDO:equivalentTo"} xref: ICD10CM:E06.1 {source="MONDO:equivalentTo", source="DOID:7165"} +xref: icd11.foundation:1320394379 {source="MONDO:equivalentTo"} xref: ICD9:245.1 {source="DOID:7165"} xref: MedDRA:10042298 {source="EFO:1001194"} xref: MESH:D013968 {source="MONDO:equivalentTo", source="DOID:7165", source="EFO:1001194"} @@ -130586,6 +131596,7 @@ synonym: "subclavian steal phenomenon" EXACT [DOID:13002] synonym: "subclavian steal steno-occlusive disease" EXACT [DOID:13002] xref: DOID:13002 {source="EFO:1001195", source="MONDO:equivalentTo"} xref: EFO:1001195 {source="MONDO:equivalentTo"} +xref: icd11.foundation:2123391417 {source="MONDO:equivalentTo"} xref: ICD9:435.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13002"} xref: MedDRA:10042335 {source="EFO:1001195"} xref: MESH:D013349 {source="EFO:1001195", source="MONDO:equivalentTo", source="DOID:13002"} @@ -130711,6 +131722,7 @@ def: "Cardiovascular manifestations of syphilis, an infection of treponema palli xref: DOID:11582 {source="EFO:1001206", source="MONDO:obsolete"} xref: EFO:1001206 {source="MONDO:equivalentTo"} xref: ICD10CM:A52.02 {source="MONDO:equivalentTo", source="EFO:1001206"} +xref: icd11.foundation:921262131 {source="MONDO:equivalentTo"} xref: ICD9:093.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1001206"} xref: MedDRA:10042900 {source="EFO:1001206"} xref: MESH:D013589 {source="EFO:1001206"} @@ -130745,6 +131757,7 @@ xref: DOID:12526 {source="MONDO:equivalentTo", source="EFO:1001208"} xref: EFO:1001208 {source="MONDO:equivalentTo"} xref: ICD10CM:G57.5 {source="DOID:12526", source="MONDO:equivalentTo", source="EFO:1001208"} xref: ICD10CM:G57.50 {source="DOID:12526"} +xref: icd11.foundation:854657246 {source="MONDO:equivalentTo"} xref: ICD9:355.5 {source="DOID:12526", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10043121 {source="EFO:1001208"} xref: MESH:D013641 {source="DOID:12526", source="MONDO:equivalentTo", source="EFO:1001208"} @@ -130792,6 +131805,7 @@ synonym: "thyrotoxic crisis" EXACT [DOID:12837] xref: DOID:12837 {source="MONDO:equivalentTo", source="EFO:1001212"} xref: EFO:1001212 {source="MONDO:equivalentTo"} xref: HP:0011782 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:1215823328 {source="MONDO:equivalentTo"} xref: ICD9:242.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:242.91 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10043705 {source="EFO:1001212"} @@ -130923,6 +131937,7 @@ xref: DOID:5644 {source="MONDO:equivalentTo", source="EFO:1001218"} xref: EFO:1001218 {source="MONDO:equivalentTo"} xref: HP:0001704 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q22.8 {source="Orphanet:95458", source="Orphanet:95458/ntbt"} +xref: icd11.foundation:973833808 {source="MONDO:equivalentTo"} xref: MedDRA:10066862 {source="Orphanet:95458", source="Orphanet:95458/e"} xref: MESH:D014263 {source="DOID:5644", source="MONDO:equivalentTo", source="Orphanet:95458", source="Orphanet:95458/e", source="EFO:1001218"} xref: Orphanet:95458 {source="MONDO:equivalentObsolete"} @@ -131098,6 +132113,7 @@ synonym: "uveoparotid fever" EXACT [DOID:13404] xref: DOID:13404 {source="EFO:1001232", source="MONDO:equivalentTo"} xref: EFO:1001232 {source="MONDO:equivalentTo"} xref: ICD10CM:D86.89 {source="DOID:13404"} +xref: icd11.foundation:2079034902 {source="MONDO:equivalentTo"} xref: MESH:D014608 {source="DOID:13404", source="EFO:1001232", source="MONDO:equivalentTo"} xref: SCTID:31541009 {source="DOID:13404", source="MONDO:directSiblingOf"} xref: SCTID:4416007 {source="DOID:13404", source="EFO:1001232", source="MONDO:equivalentTo"} @@ -131118,6 +132134,7 @@ xref: DOID:5435 {source="EFO:1001233", source="MONDO:equivalentTo"} xref: EFO:1001233 {source="MONDO:equivalentTo"} xref: GARD:9550 {source="Orphanet:576370"} xref: ICD10CM:A81.01 {source="EFO:1001233", source="MONDO:equivalentTo"} +xref: icd11.foundation:378572696 {source="MONDO:equivalentTo"} xref: icd11.foundation:378572696 {source="MONDO:equivalentTo", source="Orphanet:576370"} xref: ICD9:046.11 {source="EFO:1001233", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10064199 {source="EFO:1001233"} @@ -131201,6 +132218,7 @@ synonym: "vitamin A deficiency (disease)" EXACT [https://orcid.org/0000-0002-660 xref: DOID:10257 {source="EFO:1001237", source="MONDO:obsolete"} xref: EFO:1001237 {source="MONDO:equivalentTo"} xref: HP:0004905 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:435342452 {source="MONDO:equivalentTo"} xref: ICD9:264 {source="EFO:1001237"} xref: ICD9:264.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:264.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -131244,6 +132262,7 @@ synonym: "mammalian vulva inflammation" EXACT [MONDO:patterns/inflammatory_disea xref: DOID:3901 {source="MONDO:equivalentTo", source="EFO:1001239"} xref: EFO:1001239 {source="MONDO:equivalentTo"} xref: ICD10CM:N76.2 {source="DOID:3901"} +xref: icd11.foundation:727252860 {source="MONDO:equivalentTo"} xref: MedDRA:10047780 {source="EFO:1001239"} xref: MESH:D014847 {source="MONDO:equivalentTo", source="EFO:1001239", source="DOID:3901"} xref: SCTID:155981006 {source="DOID:3901"} @@ -131291,6 +132310,7 @@ synonym: "Wernicke's encephalopathy" EXACT [DOID:2384] xref: DOID:2384 {source="EFO:1001241", source="MONDO:equivalentTo"} xref: EFO:1001241 {source="MONDO:equivalentTo"} xref: ICD10CM:E51.2 {source="DOID:2384", source="MONDO:equivalentTo"} +xref: icd11.foundation:1360335041 {source="MONDO:equivalentTo"} xref: ICD9:265.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D014899 {source="DOID:2384", source="EFO:1001241", source="MONDO:equivalentTo"} xref: Orphanet:97354 {source="MONDO:equivalentObsolete"} @@ -131424,6 +132444,7 @@ synonym: "rotator cuff tear" RELATED [] xref: EFO:1001250 {source="MONDO:equivalentTo"} xref: ICD10CM:M75.1 {source="MONDO:equivalentTo"} xref: ICD10WHO:M75.1 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1471943310 {source="MONDO:equivalentTo"} xref: ICD9:726.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:4106009 {source="MONDO:equivalentTo"} xref: UMLS:C0263912 {source="MONDO:equivalentTo"} @@ -131452,6 +132473,7 @@ xref: DOID:14702 {source="EFO:1001251", source="MONDO:equivalentTo"} xref: EFO:1001251 {source="MONDO:equivalentTo"} xref: GARD:10147 {source="Orphanet:107"} xref: ICD10CM:Q87.8 {source="Orphanet:107/attributed", source="Orphanet:107/ntbt", source="Orphanet:107"} +xref: icd11.foundation:504227287 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10071135 {source="Orphanet:107", source="Orphanet:107/e"} xref: MESH:D019280 {source="DOID:14702", source="EFO:1001251", source="Orphanet:107", source="MONDO:equivalentTo", source="Orphanet:107/e"} @@ -131508,6 +132530,7 @@ synonym: "aortic aneurysm, familial abdominal" EXACT [OMIMPS:100070] synonym: "hereditary abdominal aortic aneurysm" EXACT [MONDO:patterns/hereditary] xref: GARD:9181 {source="Orphanet:86"} xref: ICD10CM:I71.4 {source="Orphanet:86", source="Orphanet:86/attributed", source="Orphanet:86/ntbt"} +xref: icd11.foundation:556590106 {source="MONDO:equivalentTo"} xref: OMIMPS:100070 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:86 {source="MONDO:equivalentTo", source="OMIM:100070"} xref: SCTID:715364001 {source="MONDO:equivalentTo"} @@ -131542,6 +132565,7 @@ synonym: "triad syndrome" EXACT [Orphanet:2970] xref: DOID:0060889 {source="MONDO:equivalentTo"} xref: GARD:7479 {source="Orphanet:2970"} xref: ICD10CM:Q79.4 {source="Orphanet:2970/attributed", source="Orphanet:2970/ntbt", source="Orphanet:2970", source="DOID:0060889"} +xref: icd11.foundation:1393408621 {source="MONDO:equivalentTo"} xref: icd11.foundation:1393408621 {source="Orphanet:2970", source="MONDO:equivalentTo"} xref: ICD9:756.71 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10051025 {source="Orphanet:2970", source="Orphanet:2970/e"} @@ -131586,6 +132610,7 @@ synonym: "VIth nerve disorder" BROAD [DOID:10865, NCIT:C27593] synonym: "VIth nerve paralysis" EXACT [DOID:10865, NCIT:C27592] xref: DOID:10865 {source="MONDO:equivalentTo"} xref: ICD10CM:H49.2 {source="DOID:10865"} +xref: icd11.foundation:2004845959 {source="MONDO:equivalentTo"} xref: ICD9:378.54 {source="DOID:10865"} xref: MESH:D020434 {source="DOID:10865"} xref: NCIT:C27592 {source="DOID:10865", source="MONDO:equivalentTo"} @@ -131624,6 +132649,7 @@ synonym: "limb, scalp and skull defects" EXACT [Orphanet:974] xref: DOID:0060227 {source="MONDO:equivalentTo"} xref: GARD:5739 {source="Orphanet:974"} xref: ICD10CM:Q87.2 {source="Orphanet:974/attributed", source="Orphanet:974/ntbt", source="Orphanet:974"} +xref: icd11.foundation:745972142 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538225 {source="Orphanet:974", source="MONDO:equivalentTo", source="DOID:0060227", source="Orphanet:974/e"} xref: NORD:731 {source="MONDO:NORD"} @@ -131654,6 +132680,7 @@ xref: DOID:3138 {source="EFO:1000660", source="MONDO:equivalentTo"} xref: EFO:1000660 {source="MONDO:equivalentTo"} xref: HP:0000956 {source="MONDO:otherHierarchy"} xref: ICD10CM:L83 {source="MONDO:equivalentTo", source="DOID:3138"} +xref: icd11.foundation:71488193 {source="MONDO:equivalentTo"} xref: MESH:D000052 {source="MONDO:equivalentTo", source="DOID:3138"} xref: NCIT:C26687 {source="MONDO:equivalentTo", source="DOID:3138"} xref: Orphanet:924 {source="MONDO:equivalentObsolete", source="OMIM:100600"} @@ -131698,6 +132725,7 @@ synonym: "osteosclerosis congenita" EXACT EXCLUDE [DOID:4480] xref: DOID:4480 {source="MONDO:equivalentTo"} xref: GARD:8173 {source="Orphanet:15"} xref: ICD10CM:Q77.4 {source="MONDO:equivalentTo", source="Orphanet:15", source="Orphanet:15/specific", source="DOID:4480", source="Orphanet:15/e"} +xref: icd11.foundation:24224082 {source="MONDO:equivalentTo"} xref: icd11.foundation:24224082 {source="MONDO:equivalentTo", source="Orphanet:15"} xref: MedDRA:10000452 {source="Orphanet:15", source="Orphanet:15/e"} xref: MESH:D000130 {source="MONDO:equivalentTo", source="Orphanet:15", source="DOID:4480", source="Orphanet:15/e"} @@ -131766,6 +132794,7 @@ xref: GARD:7193 {source="Orphanet:637"} xref: ICD10CM:Q85.0 {source="Orphanet:637", source="Orphanet:637/attributed", source="Orphanet:637/ntbt"} xref: ICD10CM:Q85.02 {source="MONDO:equivalentTo"} xref: icd11.foundation:14808714 {source="MONDO:equivalentTo", source="Orphanet:637"} +xref: icd11.foundation:14808714 {source="MONDO:equivalentTo"} xref: ICD9:237.72 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10000523 {source="Orphanet:637", source="Orphanet:637/e"} xref: MedDRA:10029271 {source="Orphanet:637", source="Orphanet:637/e"} @@ -131832,6 +132861,7 @@ synonym: "type I Acrocephalosyndactyly" EXACT [NCIT:C99099] synonym: "Vogt Cephalodactyly" RELATED [OMIM:101200] xref: GARD:5833 {source="Orphanet:87"} xref: ICD10CM:Q87.0 {source="Orphanet:87", source="Orphanet:87/ntbt", source="Orphanet:87/inclusion"} +xref: icd11.foundation:1962779847 {source="MONDO:equivalentTo"} xref: icd11.foundation:1962779847 {source="Orphanet:87", source="MONDO:equivalentTo"} xref: MedDRA:10002943 {source="Orphanet:87", source="Orphanet:87/e"} xref: MESH:D000168 {source="Orphanet:87", source="MONDO:equivalentTo", source="Orphanet:87/e"} @@ -131884,6 +132914,7 @@ xref: DOID:14768 {source="MONDO:equivalentTo"} xref: EFO:0007029 {source="MONDO:equivalentTo"} xref: GARD:7598 {source="Orphanet:794"} xref: ICD10CM:Q87.0 {source="Orphanet:794/attributed", source="Orphanet:794/ntbt", source="Orphanet:794"} +xref: icd11.foundation:2109857109 {source="MONDO:equivalentTo"} xref: MESH:D000168 {source="DOID:14768", source="MONDO:directSiblingOf"} xref: NCIT:C75034 {source="DOID:14768", source="MONDO:equivalentTo"} xref: NORD:1686 {source="MONDO:NORD"} @@ -131928,6 +132959,7 @@ synonym: "type V Acrocephalosyndactyly" EXACT [NCIT:C99100] xref: DOID:14705 {source="MONDO:equivalentTo"} xref: GARD:7380 {source="Orphanet:710"} xref: ICD10CM:Q87.0 {source="Orphanet:710/attributed", source="Orphanet:710/ntbt", source="Orphanet:710"} +xref: icd11.foundation:1075159878 {source="MONDO:equivalentTo"} xref: icd11.foundation:1075159878 {source="Orphanet:710", source="MONDO:equivalentTo"} xref: MESH:C538582 {source="Orphanet:710", source="Orphanet:710/e"} xref: MESH:D000168 {source="DOID:14705", source="MONDO:directSiblingOf"} @@ -131991,6 +133023,7 @@ synonym: "Opitz-Caltabiano syndrome" EXACT [DOID:0060384, Orphanet:1786] xref: DOID:0060384 {source="MONDO:equivalentTo"} xref: GARD:494 {source="Orphanet:1786"} xref: ICD10CM:Q75.4 {source="Orphanet:1786", source="Orphanet:1786/attributed", source="Orphanet:1786/ntbt"} +xref: icd11.foundation:750680130 {source="MONDO:equivalentTo"} xref: MESH:C538182 {source="DOID:0060384", source="MONDO:equivalentTo", source="Orphanet:1786", source="Orphanet:1786/e"} xref: OMIM:101805 {source="DOID:0060384", source="MONDO:equivalentTo", source="Orphanet:1786", source="Orphanet:1786/e"} xref: Orphanet:1786 {source="DOID:0060384", source="OMIM:101805", source="MONDO:equivalentTo"} @@ -132212,6 +133245,7 @@ synonym: "Acromicric skeletal dysplasia" RELATED [GARD:0000007] xref: DOID:0111243 {source="MONDO:equivalentTo"} xref: GARD:7 {source="Orphanet:969"} xref: ICD10CM:Q77.8 {source="Orphanet:969", source="Orphanet:969/attributed", source="Orphanet:969/ntbt"} +xref: icd11.foundation:1006372687 {source="MONDO:equivalentTo"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535662 {source="MONDO:equivalentTo", source="Orphanet:969", source="Orphanet:969/e"} xref: NORD:725 {source="MONDO:NORD"} @@ -132307,6 +133341,7 @@ synonym: "ACRPV" RELATED ABBREVIATION [GARD:0000512, MONDO:Lexical, OMIM:102510] synonym: "F syndrome" EXACT [GARD:0000512, OMIM:102510, Orphanet:957] xref: GARD:512 {source="Orphanet:957"} xref: ICD10CM:Q74.8 {source="Orphanet:957", source="Orphanet:957/attributed", source="Orphanet:957/ntbt"} +xref: icd11.foundation:1013313909 {source="MONDO:equivalentTo"} xref: MESH:C566319 {source="MONDO:equivalentTo"} xref: OMIM:102510 {source="GARD:0000512", source="MONDO:equivalentTo", source="Orphanet:957", source="Orphanet:957/e"} xref: Orphanet:957 {source="GARD:0000512", source="MONDO:equivalentTo", source="OMIM:102510"} @@ -132330,6 +133365,7 @@ synonym: "acrorenal syndrome" EXACT [OMIM:102520] xref: DOID:0060347 {source="MONDO:equivalentTo"} xref: GARD:514 {source="Orphanet:971"} xref: ICD10CM:Q87.2 {source="Orphanet:971/attributed", source="Orphanet:971/ntbt", source="Orphanet:971"} +xref: icd11.foundation:1948375645 {source="MONDO:equivalentTo"} xref: MESH:C563159 {source="DOID:0060347", source="MONDO:equivalentTo"} xref: OMIM:102520 {source="Orphanet:971/e", source="DOID:0060347", source="MONDO:equivalentTo", source="Orphanet:971"} xref: Orphanet:971 {source="MONDO:equivalentTo", source="OMIM:102520"} @@ -132533,6 +133569,7 @@ synonym: "rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4 xref: DOID:0050762 {source="MONDO:equivalentTo"} xref: GARD:550 {source="Orphanet:46"} xref: ICD10CM:E79.8 {source="Orphanet:46/attributed", source="Orphanet:46/ntbt", source="Orphanet:46"} +xref: icd11.foundation:1725611919 {source="MONDO:equivalentTo"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538235 {source="Orphanet:46", source="MONDO:equivalentTo", source="Orphanet:46/e"} xref: OMIM:103050 {source="Orphanet:46", source="MONDO:equivalentTo", source="Orphanet:46/e"} @@ -132623,6 +133660,7 @@ synonym: "pigment anomaly-ectrodactyly-hypodontia syndrome" EXACT [Orphanet:978] xref: DOID:0050601 {source="MONDO:equivalentTo"} xref: GARD:384 {source="Orphanet:978"} xref: ICD10CM:Q87.2 {source="Orphanet:978", source="Orphanet:978/attributed", source="Orphanet:978/ntbt"} +xref: icd11.foundation:1445741645 {source="MONDO:equivalentTo"} xref: MESH:C538052 {source="MONDO:equivalentTo", source="Orphanet:978", source="Orphanet:978/e"} xref: OMIM:103285 {source="DOID:0050601", source="MONDO:equivalentTo", source="Orphanet:978", source="Orphanet:978/e"} xref: Orphanet:978 {source="OMIM:103285", source="MONDO:equivalentTo"} @@ -132695,6 +133733,7 @@ synonym: "spontaneous dactylolysis" RELATED [GARD:0009512] xref: DOID:11329 {source="MONDO:equivalentTo"} xref: HP:0031009 {source="MONDO:otherHierarchy"} xref: ICD10CM:L94.6 {source="DOID:11329", source="MONDO:equivalentTo"} +xref: icd11.foundation:1138885521 {source="MONDO:equivalentTo"} xref: ICD9:136.0 {source="DOID:11329", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D000387 {source="DOID:11329", source="MONDO:equivalentTo"} xref: NCIT:C84544 {source="DOID:11329", source="MONDO:equivalentTo"} @@ -132787,6 +133826,7 @@ synonym: "Pseudohypoparathyroidism, type IA" RELATED [MONDO:Lexical, OMIM:103580 xref: DOID:0080053 {source="MONDO:equivalentTo"} xref: GARD:7486 {source="Orphanet:79443"} xref: ICD10CM:E20.1 {source="Orphanet:79443/attributed", source="Orphanet:79443/ntbt", source="Orphanet:79443"} +xref: icd11.foundation:1513156369 {source="MONDO:equivalentTo"} xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537045 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: NCIT:C129721 {source="MONDO:equivalentTo"} @@ -132820,6 +133860,7 @@ synonym: "alcohol dependence, susceptibility to" RELATED [OMIM:103780, OMIM:gene synonym: "alcoholism" EXACT [DOID:0050741] xref: DOID:0050741 {source="MONDO:equivalentTo", source="EFO:0003829"} xref: EFO:0003829 {source="DOID:0050741", source="MONDO:equivalentTo"} +xref: icd11.foundation:1580466198 {source="MONDO:equivalentTo"} xref: ICD9:303.90 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:305.0 {source="EFO:0003829"} xref: MESH:D000437 {source="MONDO:relatedTo", source="EFO:0003829"} @@ -132930,6 +133971,7 @@ synonym: "PPKCA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:104100] xref: DOID:0111244 {source="MONDO:equivalentTo"} xref: GARD:604 {source="Orphanet:1010"} xref: ICD10CM:Q82.8 {source="Orphanet:1010", source="Orphanet:1010/attributed", source="Orphanet:1010/ntbt"} +xref: icd11.foundation:1745113656 {source="MONDO:equivalentTo"} xref: OMIM:104100 {source="Orphanet:1010", source="MONDO:equivalentTo", source="Orphanet:1010/e"} xref: Orphanet:1010 {source="OMIM:104100", source="MONDO:equivalentTo"} xref: SCTID:719518004 {source="MONDO:equivalentTo"} @@ -133764,6 +134806,7 @@ xref: GARD:5810 {source="Orphanet:72"} xref: ICD10CM:Q93.5 {source="Orphanet:72/ntbt", source="DOID:1932", source="Orphanet:72/inclusion", source="Orphanet:72"} xref: ICD10CM:Q93.51 {source="MONDO:equivalentTo", source="https://www.angelmanbiomarkers.org/special-announcement-angelman-specific-icd-10-code-q93-51-is-finally-here/"} xref: icd11.foundation:1106558408 {source="MONDO:equivalentTo", source="Orphanet:72"} +xref: icd11.foundation:1106558408 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10049004 {source="Orphanet:72/e", source="Orphanet:72"} xref: MESH:C531619 {source="MONDO:equivalentTo"} @@ -133799,6 +134842,7 @@ synonym: "Angel-shaped phalangoepiphyseal dysplasia" RELATED [MONDO:Lexical, OMI synonym: "ASPED" EXACT ABBREVIATION [MONDO:Lexical, OMIM:105835, Orphanet:63442] xref: GARD:671 {source="Orphanet:63442"} xref: ICD10CM:Q78.8 {source="Orphanet:63442", source="Orphanet:63442/attributed", source="Orphanet:63442/ntbt"} +xref: icd11.foundation:1095628863 {source="MONDO:equivalentTo"} xref: MedDRA:10066017 {source="Orphanet:63442", source="Orphanet:63442/e"} xref: MESH:C536361 {source="MONDO:equivalentTo"} xref: OMIM:105835 {source="Orphanet:63442", source="MONDO:equivalentTo", source="Orphanet:63442/e"} @@ -133841,6 +134885,7 @@ synonym: "hereditary neurocutaneous malformation" RELATED [Orphanet:1062] synonym: "spinal arterial Venous malformations with cutaneous hemangiomas" RELATED [OMIM:106070] xref: GARD:676 {source="Orphanet:1062"} xref: ICD10CM:D18.0 {source="Orphanet:1062/attributed", source="Orphanet:1062/ntbt", source="Orphanet:1062"} +xref: icd11.foundation:182579434 {source="MONDO:equivalentTo"} xref: MESH:C536364 {source="Orphanet:1062/e", source="Orphanet:1062"} xref: OMIM:106070 {source="Orphanet:1062/e", source="MONDO:equivalentTo", source="Orphanet:1062"} xref: Orphanet:1062 {source="MONDO:equivalentTo", source="OMIM:106070"} @@ -134033,6 +135078,7 @@ synonym: "FUSED to floor of mouth" EXACT [NCIT:C124538] synonym: "tongue-tie" EXACT [DOID:0060604] xref: DOID:0060604 {source="MONDO:equivalentTo"} xref: ICD10CM:Q38.1 {source="MONDO:equivalentTo", source="DOID:0060604"} +xref: icd11.foundation:1838543063 {source="MONDO:equivalentTo"} xref: ICD9:750.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:C562396 {source="MONDO:equivalentTo", source="DOID:0060604"} xref: MESH:D000072676 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -134110,6 +135156,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007128 name: annular erythema synonym: "annular erythema" EXACT [OMIM:106500] +xref: icd11.foundation:958930318 {source="MONDO:equivalentTo"} xref: MESH:C562461 {source="MONDO:equivalentTo"} xref: OMIM:106500 {source="MONDO:equivalentTo"} xref: SCTID:200920000 {source="MONDO:equivalentTo"} @@ -134316,6 +135363,7 @@ synonym: "anosmia, isolated congenital" RELATED [MONDO:Lexical, OMIM:107200] synonym: "congenital anosmia" RELATED [GARD:0009486] xref: GARD:9486 {source="Orphanet:88620"} xref: ICD10CM:Q07.8 {source="Orphanet:88620", source="Orphanet:88620/attributed", source="Orphanet:88620/ntbt"} +xref: icd11.foundation:1603572540 {source="MONDO:equivalentTo"} xref: MESH:C535983 {source="MONDO:equivalentTo"} xref: OMIM:107200 {source="Orphanet:88620", source="MONDO:equivalentTo", source="Orphanet:88620/e"} xref: Orphanet:88620 {source="OMIM:107200", source="MONDO:equivalentTo"} @@ -134407,6 +135455,7 @@ synonym: "Townes-Brocks-branchiootorenal-like syndrome" RELATED [OMIM:107480] xref: DOID:0050887 {source="MONDO:equivalentTo"} xref: GARD:7784 {source="Orphanet:857"} xref: ICD10CM:Q87.8 {source="Orphanet:857", source="Orphanet:857/attributed", source="Orphanet:857/ntbt"} +xref: icd11.foundation:66554749 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536974 {source="MONDO:equivalentTo", source="Orphanet:857", source="Orphanet:857/e"} xref: NCIT:C99085 {source="MONDO:equivalentTo"} @@ -134480,6 +135529,7 @@ xref: DOID:0080661 {source="MONDO:equivalentTo"} xref: GARD:5835 {source="Orphanet:1114"} xref: HP:0001057 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q84.8 {source="Orphanet:1114/attributed", source="Orphanet:1114/ntbt", source="Orphanet:1114"} +xref: icd11.foundation:350175828 {source="MONDO:equivalentTo"} xref: icd11.foundation:350175828 {source="Orphanet:1114", source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C98822 {source="MONDO:equivalentTo"} @@ -134582,6 +135632,7 @@ synonym: "corneal arcus" EXACT [DOID:11342, OMIM:107800] xref: DOID:11342 {source="EFO:1000818", source="MONDO:equivalentTo"} xref: EFO:1000818 {source="MONDO:equivalentTo"} xref: ICD10CM:H18.41 {source="DOID:11342"} +xref: icd11.foundation:2142011301 {source="MONDO:equivalentTo"} xref: MedDRA:10003082 {source="EFO:1000818"} xref: MESH:D001112 {source="EFO:1000818", source="MONDO:equivalentTo", source="DOID:11342"} xref: OMIM:107800 {source="MONDO:equivalentTo", source="DOID:11342"} @@ -134797,6 +135848,7 @@ synonym: "STL1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:108300] xref: DOID:0080676 {source="MONDO:equivalentTo"} xref: GARD:5018 {source="Orphanet:90653"} xref: ICD10CM:Q87.5 {source="Orphanet:90653", source="Orphanet:90653/attributed", source="Orphanet:90653/ntbt"} +xref: icd11.foundation:203625278 {source="MONDO:equivalentTo"} xref: MESH:C537492 {source="MONDO:equivalentTo", source="Orphanet:90653", source="Orphanet:90653/e"} xref: NCIT:C168733 {source="MONDO:equivalentTo"} xref: OMIM:108300 {source="MONDO:equivalentTo", source="Orphanet:90653", source="Orphanet:90653/e"} @@ -134960,6 +136012,7 @@ synonym: "spondylo-humero-femoral dysplasia" EXACT [Orphanet:1190] synonym: "spondylohumerofemoral hypoplasia" RELATED [OMIM:108720] xref: GARD:9287 {source="Orphanet:1190"} xref: ICD10CM:Q78.8 {source="Orphanet:1190", source="Orphanet:1190/attributed", source="Orphanet:1190/ntbt"} +xref: icd11.foundation:449799342 {source="MONDO:equivalentTo"} xref: MESH:C535396 {source="MONDO:equivalentTo", source="Orphanet:1190", source="Orphanet:1190/e"} xref: OMIM:108720 {source="MONDO:equivalentTo", source="Orphanet:1190", source="Orphanet:1190/e"} xref: Orphanet:1190 {source="OMIM:108720", source="MONDO:equivalentTo"} @@ -134988,6 +136041,7 @@ synonym: "atelosteogenesis, type 3" RELATED [OMIM:108721] synonym: "atelosteogenesis, type III" RELATED [MONDO:Lexical, OMIM:108721] xref: GARD:10608 {source="Orphanet:56305"} xref: ICD10CM:Q78.8 {source="Orphanet:56305", source="Orphanet:56305/attributed", source="Orphanet:56305/ntbt"} +xref: icd11.foundation:1997882528 {source="MONDO:equivalentTo"} xref: MESH:C579928 {source="MONDO:equivalentTo"} xref: OMIM:108721 {source="Orphanet:56305", source="MONDO:equivalentTo", source="Orphanet:56305/e"} xref: Orphanet:56305 {source="OMIM:108721", source="MONDO:equivalentTo"} @@ -135125,6 +136179,7 @@ synonym: "syndrome of short P-R interval, normal QRS complexes, and supraventric xref: DOID:13087 {source="MONDO:equivalentTo"} xref: GARD:16550 {source="Orphanet:844"} xref: ICD10CM:I45.6 {source="Orphanet:844/inclusion", source="Orphanet:844/ntbt", source="Orphanet:844", source="DOID:13087"} +xref: icd11.foundation:414532162 {source="MONDO:equivalentTo"} xref: ICD9:426.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13087"} xref: MedDRA:10024984 {source="Orphanet:844", source="Orphanet:844/e"} xref: MESH:D008151 {source="MONDO:equivalentTo", source="DOID:13087"} @@ -135163,6 +136218,7 @@ synonym: "Sveinsson chorioretinal atrophy" EXACT [Orphanet:86813] xref: DOID:0111228 {source="MONDO:equivalentTo"} xref: GARD:16757 {source="Orphanet:86813"} xref: ICD10CM:H31.2 {source="Orphanet:86813", source="Orphanet:86813/attributed", source="Orphanet:86813/ntbt"} +xref: icd11.foundation:896652469 {source="MONDO:equivalentTo"} xref: MESH:C566236 {source="MONDO:equivalentTo"} xref: OMIM:108985 {source="MONDO:equivalentTo", source="Orphanet:86813", source="Orphanet:86813/e"} xref: Orphanet:86813 {source="OMIM:108985", source="MONDO:equivalentTo"} @@ -135202,6 +136258,7 @@ synonym: "aural cephalosyndactyly" RELATED [GARD:0009218] synonym: "Auralcephalosyndactyly" RELATED [OMIM:109050] synonym: "aurocephalosyndactyly" EXACT [OMIM:109050] synonym: "Kurczynski-Casperson syndrome" RELATED [GARD:0009218] +xref: icd11.foundation:1849836237 {source="MONDO:equivalentTo"} xref: MESH:C566235 {source="MONDO:equivalentTo"} xref: OMIM:109050 {source="MONDO:equivalentTo"} xref: Orphanet:1219 {source="MONDO:equivalentObsolete", source="OMIM:109050"} @@ -135658,6 +136715,7 @@ synonym: "blepharochalasis-double lip syndrome" EXACT [Orphanet:1253] synonym: "Double upper lip, blepharochalasis and enlargement of the thyroid" RELATED [GARD:0000201] xref: GARD:201 {source="Orphanet:1253"} xref: ICD10CM:Q87.0 {source="Orphanet:1253", source="Orphanet:1253/attributed", source="Orphanet:1253/ntbt"} +xref: icd11.foundation:1063203220 {source="MONDO:equivalentTo"} xref: ICD9:246.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:374.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562742 {source="MONDO:equivalentTo"} @@ -135917,6 +136975,7 @@ synonym: "dwarfism with short, bowed, rigid limbs and characteristic facies" REL xref: DOID:0050680 {source="MONDO:equivalentTo"} xref: GARD:933 {source="Orphanet:1263"} xref: ICD10CM:Q87.1 {source="Orphanet:1263", source="Orphanet:1263/attributed", source="Orphanet:1263/ntbt"} +xref: icd11.foundation:423736259 {source="MONDO:equivalentTo"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536573 {source="Orphanet:1263", source="MONDO:equivalentTo", source="Orphanet:1263/e"} xref: OMIM:112310 {source="Orphanet:1263", source="MONDO:equivalentTo", source="Orphanet:1263/e", source="DOID:0050680"} @@ -135951,6 +137010,7 @@ synonym: "Weismann-Netter-Stuhl syndrome" EXACT [Orphanet:3344] synonym: "WNS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:112350] xref: GARD:5232 {source="Orphanet:3344"} xref: ICD10CM:Q77.8 {source="Orphanet:3344/attributed", source="Orphanet:3344/ntbt", source="Orphanet:3344"} +xref: icd11.foundation:180927608 {source="MONDO:equivalentTo"} xref: MESH:C537082 {source="Orphanet:3344", source="MONDO:equivalentTo", source="Orphanet:3344/e"} xref: NORD:1843 {source="MONDO:NORD"} xref: OMIM:112350 {source="Orphanet:3344", source="MONDO:equivalentTo", source="Orphanet:3344/e"} @@ -136043,6 +137103,7 @@ synonym: "Pitt Williams brachydactyly" RELATED [GARD:0000959] synonym: "Pitt-Williams brachydactyly" EXACT [DOID:0110963, OMIM:112440, Orphanet:93395] xref: DOID:0110963 {source="MONDO:equivalentTo"} xref: ICD10CM:Q73.8 {source="DOID:0110963", source="Orphanet:93395", source="Orphanet:93395/attributed", source="Orphanet:93395/ntbt"} +xref: icd11.foundation:94436217 {source="MONDO:equivalentTo"} xref: MESH:C537094 {source="MONDO:equivalentTo"} xref: OMIM:112440 {source="DOID:0110963", source="Orphanet:93395", source="MONDO:equivalentTo", source="Orphanet:93395/e"} xref: Orphanet:93395 {source="DOID:0110963", source="MONDO:equivalentObsolete", source="OMIM:112440"} @@ -136090,6 +137151,7 @@ synonym: "Farabee-type brachydactyly" RELATED [OMIM:112500] xref: DOID:0110964 {source="MONDO:equivalentTo"} xref: GARD:978 {source="Orphanet:93388"} xref: ICD10CM:Q73.8 {source="Orphanet:93388/attributed", source="Orphanet:93388/ntbt", source="Orphanet:93388"} +xref: icd11.foundation:568452529 {source="MONDO:equivalentTo"} xref: MESH:C537088 {source="Orphanet:93388", source="MONDO:equivalentTo", source="Orphanet:93388/e"} xref: OMIM:112500 {source="DOID:0110964", source="Orphanet:93388", source="MONDO:equivalentTo", source="Orphanet:93388/e"} xref: Orphanet:93388 {source="DOID:0110964", source="MONDO:equivalentTo", source="OMIM:112500"} @@ -136118,6 +137180,7 @@ synonym: "Mohr-Wriedt type brachydactyly" EXACT [DOID:0110965, OMIM:112600] xref: DOID:0110965 {source="MONDO:equivalentTo"} xref: GARD:979 {source="Orphanet:93396"} xref: ICD10CM:Q73.8 {source="DOID:0110965", source="Orphanet:93396/attributed", source="Orphanet:93396/ntbt", source="Orphanet:93396"} +xref: icd11.foundation:594491464 {source="MONDO:equivalentTo"} xref: MESH:C537089 {source="DOID:0110965", source="Orphanet:93396", source="MONDO:equivalentTo", source="Orphanet:93396/e"} xref: OMIM:112600 {source="DOID:0110965", source="Orphanet:93396", source="MONDO:equivalentTo", source="Orphanet:93396/e"} xref: Orphanet:93396 {source="DOID:0110965", source="MONDO:equivalentTo", source="OMIM:112600"} @@ -136140,6 +137203,7 @@ synonym: "brachydactyly-clinodactyly" EXACT [DOID:0110966, OMIM:112700, Orphanet synonym: "Brachymesophalangy 5" RELATED [OMIM:112700] synonym: "brachymesophalangy V" EXACT [DOID:0110966, Orphanet:93393] xref: DOID:0110966 {source="MONDO:equivalentTo"} +xref: icd11.foundation:153446585 {source="MONDO:equivalentTo"} xref: MESH:C537090 {source="MONDO:equivalentTo"} xref: OMIM:112700 {source="DOID:0110966", source="MONDO:equivalentTo"} xref: Orphanet:93393 {source="MONDO:equivalentObsolete", source="OMIM:112700"} @@ -136167,6 +137231,7 @@ synonym: "Temtamy type brachydactyly" EXACT [DOID:0110967, OMIM:112800] xref: DOID:0110967 {source="MONDO:equivalentTo"} xref: GARD:990 {source="Orphanet:93394"} xref: ICD10CM:Q73.8 {source="Orphanet:93394", source="DOID:0110967", source="Orphanet:93394/attributed", source="Orphanet:93394/ntbt"} +xref: icd11.foundation:10379198 {source="MONDO:equivalentTo"} xref: MESH:C537097 {source="MONDO:equivalentTo"} xref: OMIM:112800 {source="Orphanet:93394", source="DOID:0110967", source="MONDO:equivalentTo", source="Orphanet:93394/e"} xref: Orphanet:93394 {source="DOID:0110967", source="MONDO:equivalentTo", source="OMIM:112800"} @@ -136246,6 +137311,7 @@ synonym: "brachydactyly, type C" RELATED [MONDO:Lexical, OMIM:113100] xref: DOID:0110970 {source="MONDO:equivalentTo"} xref: GARD:986 {source="Orphanet:93384"} xref: ICD10CM:Q73.8 {source="Orphanet:93384", source="Orphanet:93384/attributed", source="Orphanet:93384/ntbt", source="DOID:0110970"} +xref: icd11.foundation:956707061 {source="MONDO:equivalentTo"} xref: MESH:C537093 {source="Orphanet:93384", source="MONDO:equivalentTo", source="Orphanet:93384/e", source="DOID:0110970"} xref: OMIM:113100 {source="Orphanet:93384", source="MONDO:equivalentTo", source="Orphanet:93384/e", source="DOID:0110970"} xref: Orphanet:93384 {source="OMIM:113100", source="MONDO:equivalentTo", source="DOID:0110970"} @@ -136266,6 +137332,7 @@ synonym: "BDD" EXACT ABBREVIATION [DOID:0110971, MONDO:Lexical, OMIM:113200] synonym: "brachydactyly, type D" RELATED [MONDO:Lexical, OMIM:113200] synonym: "stub thumb" RELATED [OMIM:113200] xref: DOID:0110971 {source="MONDO:equivalentTo"} +xref: icd11.foundation:642882691 {source="MONDO:equivalentTo"} xref: MESH:C562420 {source="MONDO:equivalentTo"} xref: OMIM:113200 {source="MONDO:equivalentTo", source="DOID:0110971"} xref: Orphanet:93385 {source="MONDO:equivalentObsolete", source="OMIM:113200"} @@ -136648,6 +137715,7 @@ synonym: "ichthyosis hystrix Brocq type" EXACT [Orphanet:312] xref: DOID:4603 {source="MONDO:equivalentTo"} xref: GARD:1039 {source="Orphanet:312"} xref: ICD10CM:Q80.3 {source="Orphanet:312", source="Orphanet:312/e", source="DOID:4603", source="Orphanet:312/specific"} +xref: icd11.foundation:1183730789 {source="MONDO:equivalentTo"} xref: MESH:D017488 {source="MONDO:equivalentTo", source="DOID:4603"} xref: NORD:1100 {source="MONDO:NORD"} xref: OMIMPS:113800 {source="MONDO:equivalentTo"} @@ -136945,6 +138013,7 @@ synonym: "minor streblomicrodactyly, familial" RELATED [GARD:0009448, MESH:C5368 synonym: "streblodactyly" RELATED [OMIM:114200] xref: GARD:9448 {source="Orphanet:295016"} xref: ICD10CM:Q68.1 {source="Orphanet:295016", source="Orphanet:295016/attributed", source="Orphanet:295016/ntbt"} +xref: icd11.foundation:1449348512 {source="MONDO:equivalentTo"} xref: ICD9:755.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536852 {source="MONDO:equivalentTo"} xref: MESH:C567780 {source="MONDO:equivalentTo"} @@ -136983,6 +138052,7 @@ synonym: "Cmpd1/Sra1" RELATED [OMIM:114290] xref: DOID:0050463 {source="MONDO:equivalentTo"} xref: GARD:10027 {source="Orphanet:140"} xref: ICD10CM:Q87.1 {source="Orphanet:140", source="Orphanet:140/attributed", source="Orphanet:140/ntbt"} +xref: icd11.foundation:913761638 {source="MONDO:equivalentTo"} xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D055036 {source="DOID:0050463", source="MONDO:equivalentTo", source="Orphanet:140", source="Orphanet:140/e"} xref: NCIT:C120205 {source="DOID:0050463"} @@ -137448,6 +138518,7 @@ subset: rare synonym: "collagenoma, familial cutaneous" RELATED [OMIM:115250] xref: GARD:9799 {source="Orphanet:53296"} xref: ICD10CM:L94.8 {source="Orphanet:53296/attributed", source="Orphanet:53296/ntbt", source="Orphanet:53296"} +xref: icd11.foundation:982220551 {source="MONDO:equivalentTo"} xref: MESH:C562925 {source="MONDO:equivalentTo"} xref: OMIM:115250 {source="Orphanet:53296/e", source="MONDO:equivalentTo", source="Orphanet:53296"} xref: Orphanet:53296 {source="MONDO:equivalentTo", source="OMIM:115250"} @@ -137543,6 +138614,7 @@ xref: DOID:12169 {source="MONDO:equivalentTo", source="EFO:0004143"} xref: EFO:0004143 {source="MONDO:equivalentTo"} xref: ICD10CM:G56.0 {source="MONDO:equivalentTo", source="DOID:12169"} xref: ICD10CM:G56.00 {source="DOID:12169"} +xref: icd11.foundation:1275186848 {source="MONDO:equivalentTo"} xref: ICD9:354.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0004143", source="DOID:12169"} xref: MESH:D002349 {source="MONDO:equivalentTo", source="EFO:0004143", source="DOID:12169"} xref: NCIT:C34450 {source="MONDO:equivalentTo", source="EFO:0004143", source="DOID:12169"} @@ -137577,6 +138649,7 @@ synonym: "Schmid-Fraccaro syndrome" RELATED [OMIM:115470] xref: DECIPHER:42 {source="MONDO:equivalentTo"} xref: GARD:26 {source="Orphanet:195"} xref: ICD10CM:Q92.8 {source="Orphanet:195", source="Orphanet:195/attributed", source="Orphanet:195/ntbt"} +xref: icd11.foundation:1813923633 {source="MONDO:equivalentTo"} xref: MESH:C535918 {source="MONDO:equivalentTo", source="Orphanet:195", source="Orphanet:195/e"} xref: NCIT:C75477 {source="MONDO:equivalentTo"} xref: NORD:899 {source="MONDO:NORD"} @@ -138145,6 +139218,7 @@ synonym: "spinocerebellar ataxia, 16Q22-linked" RELATED [OMIM:117210] xref: DOID:0050980 {source="MONDO:equivalentTo"} xref: GARD:9975 {source="Orphanet:217012"} xref: ICD10CM:G11.8 {source="Orphanet:217012", source="Orphanet:217012/attributed", source="Orphanet:217012/ntbt"} +xref: icd11.foundation:250956064 {source="MONDO:equivalentTo"} xref: MESH:C566146 {source="MONDO:equivalentTo"} xref: NCIT:C176901 {source="MONDO:equivalentTo"} xref: OMIM:117210 {source="DOID:0050980", source="Orphanet:217012/e", source="MONDO:equivalentTo", source="Orphanet:217012"} @@ -138179,6 +139253,7 @@ xref: DOID:0070030 {source="MONDO:equivalentTo"} xref: GARD:9169 {source="Orphanet:97346"} xref: ICD10EXP:E85.4+ {source="Orphanet:97346", source="Orphanet:97346/attributed", source="Orphanet:97346/ntbt"} xref: ICD10EXP:I68.0* {source="Orphanet:97346", source="Orphanet:97346/attributed", source="Orphanet:97346/ntbt"} +xref: icd11.foundation:54507082 {source="MONDO:equivalentTo"} xref: MESH:C538209 {source="Orphanet:97346", source="MONDO:equivalentTo", source="Orphanet:97346/e"} xref: OMIM:117300 {source="Orphanet:97346", source="MONDO:equivalentTo", source="Orphanet:97346/e", source="DOID:0070030"} xref: Orphanet:97346 {source="OMIM:117300", source="MONDO:equivalentTo"} @@ -138209,6 +139284,7 @@ synonym: "spinocerebellar ataxia type 29" EXACT [MONDORULE:2, OMIM:117360] xref: DOID:0050978 {source="MONDO:equivalentTo"} xref: GARD:10480 {source="Orphanet:208513"} xref: ICD10CM:G11.0 {source="Orphanet:208513/attributed", source="Orphanet:208513/ntbt", source="Orphanet:208513"} +xref: icd11.foundation:359640365 {source="MONDO:equivalentTo"} xref: MESH:C537206 {source="MONDO:equivalentTo"} xref: OMIM:117360 {source="Orphanet:208513/e", source="MONDO:equivalentTo", source="DOID:0050978", source="Orphanet:208513"} xref: Orphanet:208513 {source="MONDO:equivalentTo", source="OMIM:117360"} @@ -138262,6 +139338,7 @@ synonym: "rib Gap defects with micrognathia" RELATED [OMIM:117650] xref: DOID:0111248 {source="MONDO:equivalentTo"} xref: GARD:6026 {source="Orphanet:1393"} xref: ICD10CM:Q87.8 {source="Orphanet:1393/attributed", source="Orphanet:1393/ntbt", source="Orphanet:1393"} +xref: icd11.foundation:1475063064 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562538 {source="MONDO:equivalentTo"} xref: NORD:914 {source="MONDO:NORD"} @@ -138390,6 +139467,7 @@ synonym: "peroneal muscular atrophy" RELATED EXCLUDE [DOID:0110152] xref: DOID:0110152 {source="MONDO:equivalentTo"} xref: GARD:1246 {source="Orphanet:101082"} xref: ICD10CM:G60.0 {source="DOID:0110152", source="Orphanet:101082/attributed", source="Orphanet:101082/ntbt", source="Orphanet:101082"} +xref: icd11.foundation:1632280319 {source="MONDO:equivalentTo"} xref: NCIT:C118782 {source="MONDO:equivalentTo"} xref: OMIM:118200 {source="Orphanet:101082/e", source="MONDO:equivalentTo", source="DOID:0110152", source="Orphanet:101082"} xref: Orphanet:101082 {source="OMIM:118200", source="MONDO:equivalentTo", source="DOID:0110152"} @@ -138441,6 +139519,7 @@ synonym: "KIF1B Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, xref: DOID:0110154 {source="MONDO:equivalentTo"} xref: GARD:1248 {source="Orphanet:99946"} xref: ICD10CM:G60.0 {source="Orphanet:99946", source="DOID:0110154", source="Orphanet:99946/attributed", source="Orphanet:99946/ntbt"} +xref: icd11.foundation:2087067372 {source="MONDO:equivalentTo"} xref: MESH:C566138 {source="MONDO:equivalentTo"} xref: NCIT:C134952 {source="MONDO:equivalentTo"} xref: NCIT:C150609 {source="MONDO:equivalentTo"} @@ -138531,6 +139610,7 @@ synonym: "CMT1E" EXACT ABBREVIATION [DOID:0110153, Orphanet:90658] xref: DOID:0110153 {source="MONDO:equivalentTo"} xref: GARD:9190 {source="Orphanet:90658"} xref: ICD10CM:G60.0 {source="Orphanet:90658/attributed", source="Orphanet:90658/ntbt", source="DOID:0110153", source="Orphanet:90658"} +xref: icd11.foundation:1924906594 {source="MONDO:equivalentTo"} xref: MESH:C537986 {source="Orphanet:90658/e", source="MONDO:equivalentTo", source="Orphanet:90658"} xref: MESH:C538078 {source="Orphanet:90658/e", source="Orphanet:90658"} xref: OMIM:118300 {source="Orphanet:90658/e", source="MONDO:equivalentTo", source="DOID:0110153", source="Orphanet:90658"} @@ -138603,6 +139683,7 @@ xref: DOID:1856 {source="MONDO:equivalentTo"} xref: GARD:6036 {source="Orphanet:184"} xref: ICD10CM:M27.8 {source="DOID:1856"} xref: icd11.foundation:1729261719 {source="MONDO:equivalentTo", source="Orphanet:184"} +xref: icd11.foundation:1729261719 {source="MONDO:equivalentTo"} xref: ICD9:526.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10070535 {source="Orphanet:184", source="Orphanet:184/e"} xref: MESH:D002636 {source="MONDO:equivalentTo", source="Orphanet:184", source="DOID:1856", source="Orphanet:184/e"} @@ -138689,6 +139770,7 @@ synonym: "Watson-Miller syndrome" RELATED [GARD:0000804] xref: DOID:9245 {source="MONDO:equivalentTo"} xref: GARD:804 {source="Orphanet:52"} xref: ICD10CM:Q44.7 {source="Orphanet:52/ntbt", source="DOID:9245", source="Orphanet:52/inclusion", source="Orphanet:52"} +xref: icd11.foundation:1249656206 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10053870 {source="Orphanet:52/e", source="Orphanet:52"} xref: MESH:D016738 {source="Orphanet:52/e", source="MONDO:equivalentTo", source="DOID:9245", source="Orphanet:52"} @@ -138807,6 +139889,7 @@ synonym: "chondrodysplasia punctata, Mt type" RELATED [OMIM:118651] synonym: "chondrodysplasia punctata, tibia-metacarpal type" RELATED [OMIM:118651] xref: GARD:16715 {source="Orphanet:79346"} xref: ICD10CM:Q77.3 {source="Orphanet:79346/attributed", source="Orphanet:79346/ntbt", source="Orphanet:79346"} +xref: icd11.foundation:1513713461 {source="MONDO:equivalentTo"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562961 {source="MONDO:equivalentTo"} xref: OMIM:118651 {source="Orphanet:79346/e", source="MONDO:equivalentTo", source="Orphanet:79346"} @@ -138926,6 +140009,7 @@ synonym: "congenital pseudarthrosis of the clavicle" EXACT [Orphanet:66630] synonym: "congenital pseudoarthrosis of the clavicle" RELATED [Orphanet:66630] xref: GARD:16673 {source="Orphanet:66630"} xref: ICD10CM:Q74.0 {source="Orphanet:66630/ntbt", source="Orphanet:66630/inclusion", source="Orphanet:66630"} +xref: icd11.foundation:1844778103 {source="MONDO:equivalentTo"} xref: MESH:C562548 {source="MONDO:equivalentTo"} xref: OMIM:118980 {source="Orphanet:66630/e", source="MONDO:equivalentTo", source="Orphanet:66630"} xref: Orphanet:66630 {source="OMIM:118980", source="MONDO:equivalentTo"} @@ -139022,6 +140106,7 @@ synonym: "popliteal web syndrome" EXACT [Orphanet:1300] synonym: "PPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:119500] xref: GARD:3242 {source="Orphanet:1300"} xref: ICD10CM:Q87.2 {source="Orphanet:1300/attributed", source="Orphanet:1300/ntbt", source="Orphanet:1300"} +xref: icd11.foundation:2069589860 {source="MONDO:equivalentTo"} xref: OMIM:119500 {source="Orphanet:1300", source="MONDO:equivalentTo", source="Orphanet:1300/e"} xref: Orphanet:1300 {source="OMIM:119500", source="MONDO:equivalentTo"} xref: SCTID:718222000 {source="MONDO:equivalentTo"} @@ -139127,6 +140212,7 @@ xref: GARD:16907 {source="Orphanet:99772"} xref: GARD:18243 {source="OMIM:119570"} xref: ICD10CM:Q35.3 {source="DOID:0110214", source="Orphanet:99772/e", source="MONDO:equivalentTo", source="Orphanet:99772"} xref: icd11.foundation:797497023 {source="MONDO:equivalentTo", source="Orphanet:99772"} +xref: icd11.foundation:797497023 {source="MONDO:equivalentTo"} xref: MESH:C562950 {source="MONDO:equivalentTo"} xref: OMIM:119570 {source="DOID:0110214", source="MONDO:equivalentTo", source="Orphanet:99772/btnt", source="Orphanet:99772"} xref: Orphanet:99772 {source="DOID:0110214", source="MONDO:equivalentTo", source="OMIM:119570"} @@ -139165,6 +140251,7 @@ synonym: "lagophthalmia-cleft lip and palate syndrome" EXACT [Orphanet:1997] xref: DOID:0080344 {source="MONDO:equivalentTo"} xref: GARD:2071 {source="Orphanet:1997"} xref: ICD10CM:Q87.8 {source="Orphanet:1997", source="Orphanet:1997/attributed", source="Orphanet:1997/ntbt"} +xref: icd11.foundation:755252042 {source="MONDO:equivalentTo"} xref: MESH:C536188 {source="MONDO:equivalentTo"} xref: OMIMPS:119580 {source="MONDO:equivalentTo", source="DOID:0080344", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:1997 {source="MONDO:equivalentTo", source="GARD:0002071", source="OMIM:119580"} @@ -139467,6 +140554,7 @@ synonym: "hereditary macular coloboma (subtype)" RELATED [GARD:0001436] synonym: "macular coloboma" RELATED [GARD:0001436] xref: GARD:1436 {source="Orphanet:98945"} xref: ICD10CM:Q14.8 {source="Orphanet:98945", source="Orphanet:98945/attributed", source="Orphanet:98945/ntbt"} +xref: icd11.foundation:366058642 {source="MONDO:equivalentTo"} xref: icd11.foundation:366058642 {source="MONDO:equivalentTo", source="Orphanet:98945"} xref: OMIM:120300 {source="MONDO:equivalentTo", source="Orphanet:98945", source="Orphanet:98945/w"} xref: Orphanet:98945 {source="MONDO:equivalentTo", source="OMIM:120300"} @@ -139765,6 +140853,7 @@ synonym: "Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis" RELA xref: DOID:0111595 {source="MONDO:equivalentTo"} xref: GARD:5899 {source="Orphanet:115"} xref: ICD10CM:Q68.8 {source="Orphanet:115", source="Orphanet:115/attributed", source="Orphanet:115/ntbt"} +xref: icd11.foundation:1376425921 {source="MONDO:equivalentTo"} xref: icd11.foundation:1376425921 {source="Orphanet:115", source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536211 {source="Orphanet:115", source="MONDO:equivalentTo", source="Orphanet:115/e"} @@ -139910,6 +140999,7 @@ xref: DOID:13269 {source="MONDO:equivalentTo"} xref: GARD:6619 {source="Orphanet:79273"} xref: ICD10CM:E80.2 {source="Orphanet:79273", source="Orphanet:79273/attributed", source="Orphanet:79273/ntbt"} xref: ICD10CM:E80.29 {source="DOID:13269"} +xref: icd11.foundation:1365918274 {source="MONDO:equivalentTo"} xref: MedDRA:10019866 {source="Orphanet:79273", source="Orphanet:79273/e"} xref: MESH:D046349 {source="MONDO:equivalentTo", source="Orphanet:79273", source="DOID:13269", source="Orphanet:79273/e"} xref: NCIT:C84759 {source="MONDO:equivalentTo", source="DOID:13269"} @@ -140059,6 +141149,7 @@ synonym: "François-Neetens speckled corneal dystrophy" EXACT [Orphanet:98970] xref: DOID:0060448 {source="MONDO:equivalentTo"} xref: GARD:16879 {source="Orphanet:98970"} xref: ICD10CM:H18.5 {source="Orphanet:98970/attributed", source="Orphanet:98970/ntbt", source="Orphanet:98970"} +xref: icd11.foundation:607143324 {source="MONDO:equivalentTo"} xref: ICD9:371.56 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563256 {source="MONDO:equivalentTo", source="DOID:0060448"} xref: OMIM:121850 {source="Orphanet:98970/e", source="MONDO:equivalentTo", source="DOID:0060448", source="Orphanet:98970"} @@ -140222,6 +141313,7 @@ synonym: "recurrent hereditary corneal erosions" EXACT [Orphanet:293381] xref: DOID:0070337 {source="MONDO:equivalentTo"} xref: GARD:17338 {source="Orphanet:293381"} xref: ICD10CM:H18.5 {source="Orphanet:293381/attributed", source="Orphanet:293381/ntbt", source="Orphanet:293381"} +xref: icd11.foundation:1105690299 {source="MONDO:equivalentTo"} xref: MESH:C565155 {source="MONDO:equivalentTo"} xref: OMIM:122400 {source="Orphanet:293381", source="MONDO:equivalentTo", source="Orphanet:293381/e"} xref: Orphanet:293381 {source="MONDO:equivalentTo", source="OMIM:122400"} @@ -140276,6 +141368,7 @@ synonym: "CORNEODERMATOOSSEOUS syndrome" RELATED [OMIM:122440] synonym: "Stern Lubinsky Durrie syndrome" RELATED [GARD:0001531] xref: GARD:1531 {source="Orphanet:3194"} xref: ICD10CM:H18.5 {source="Orphanet:3194", source="Orphanet:3194/attributed", source="Orphanet:3194/ntbt"} +xref: icd11.foundation:1754695879 {source="MONDO:equivalentTo"} xref: MESH:C536444 {source="Orphanet:3194/e", source="Orphanet:3194"} xref: MESH:C537488 {source="Orphanet:3194/e", source="MONDO:equivalentTo", source="Orphanet:3194"} xref: OMIM:122440 {source="Orphanet:3194/e", source="MONDO:equivalentTo", source="Orphanet:3194"} @@ -140471,6 +141564,7 @@ subset: rare synonym: "coxoauricular syndrome" EXACT [OMIM:122780] xref: GARD:1558 {source="Orphanet:1508"} xref: ICD10CM:Q87.1 {source="Orphanet:1508/attributed", source="Orphanet:1508/ntbt", source="Orphanet:1508"} +xref: icd11.foundation:649449912 {source="MONDO:equivalentTo"} xref: MESH:C565148 {source="MONDO:equivalentTo"} xref: OMIM:122780 {source="Orphanet:1508/e", source="MONDO:equivalentTo", source="Orphanet:1508"} xref: Orphanet:1508 {source="OMIM:122780", source="MONDO:equivalentTo"} @@ -140515,6 +141609,7 @@ synonym: "Sommer-Young-Wee-Frye syndrome" EXACT [Orphanet:1529] xref: DOID:0111336 {source="MONDO:equivalentTo"} xref: GARD:1571 {source="Orphanet:1529"} xref: ICD10CM:Q87.0 {source="Orphanet:1529/attributed", source="Orphanet:1529/ntbt", source="Orphanet:1529"} +xref: icd11.foundation:1355682887 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536453 {source="Orphanet:1529/e", source="MONDO:equivalentTo", source="Orphanet:1529"} xref: OMIM:122880 {source="Orphanet:1529/e", source="MONDO:equivalentTo", source="Orphanet:1529"} @@ -140584,6 +141679,7 @@ subset: rare synonym: "craniorhiny" EXACT [OMIM:123050] xref: GARD:16984 {source="Orphanet:157832"} xref: ICD10CM:Q30.8 {source="Orphanet:157832", source="Orphanet:157832/ntbt"} +xref: icd11.foundation:853619848 {source="MONDO:equivalentTo"} xref: MESH:C565144 {source="MONDO:equivalentTo"} xref: OMIM:123050 {source="MONDO:equivalentTo", source="Orphanet:157832", source="Orphanet:157832/e"} xref: Orphanet:157832 {source="OMIM:123050", source="MONDO:equivalentTo"} @@ -140760,6 +141856,7 @@ xref: DECIPHER:2 {source="MONDO:equivalentTo"} xref: DOID:12580 {source="MONDO:equivalentTo"} xref: GARD:6213 {source="Orphanet:281"} xref: ICD10CM:Q93.4 {source="Orphanet:281/inclusion", source="DOID:12580", source="Orphanet:281", source="Orphanet:281/ntbt"} +xref: icd11.foundation:620584190 {source="MONDO:equivalentTo"} xref: ICD9:758.31 {source="DOID:12580", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10011385 {source="Orphanet:281", source="Orphanet:281/e"} @@ -140969,6 +142066,7 @@ synonym: "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome" RELATED [ xref: DOID:0050660 {source="MONDO:equivalentTo"} xref: GARD:332 {source="Orphanet:1555"} xref: ICD10CM:Q87.8 {source="Orphanet:1555", source="Orphanet:1555/attributed", source="Orphanet:1555/ntbt"} +xref: icd11.foundation:947865461 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C565129 {source="MONDO:equivalentTo"} xref: NCIT:C123813 {source="MONDO:equivalentTo"} @@ -141034,6 +142132,7 @@ synonym: "progressive massive osteolysis" EXACT [Orphanet:73] synonym: "vanishing bone disease" EXACT [Orphanet:73] xref: GARD:6542 {source="Orphanet:73"} xref: ICD10CM:M89.5 {source="Orphanet:73/attributed", source="Orphanet:73/ntbt", source="Orphanet:73"} +xref: icd11.foundation:1318015458 {source="MONDO:equivalentTo"} xref: ICD9:733.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10071283 {source="Orphanet:73/e", source="Orphanet:73"} xref: NORD:1200 {source="MONDO:NORD"} @@ -141094,6 +142193,7 @@ synonym: "nephropathia epidemica" RELATED [OMIM:124100] xref: DOID:3052 {source="MONDO:equivalentTo", source="EFO:0007164"} xref: EFO:0007164 {source="MONDO:equivalentTo"} xref: ICD10CM:N15.0 {source="MONDO:equivalentTo", source="DOID:3052"} +xref: icd11.foundation:18497836 {source="MONDO:equivalentTo"} xref: ICD9:583.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D001449 {source="MONDO:equivalentTo", source="EFO:0007164", source="DOID:3052"} xref: NCIT:C123025 {source="MONDO:equivalentTo"} @@ -141128,6 +142228,7 @@ xref: DOID:2734 {source="MONDO:equivalentTo"} xref: GARD:6243 {source="Orphanet:218"} xref: ICD10CM:E50.8 {source="DOID:2734"} xref: ICD10CM:Q82.8 {source="Orphanet:218/ntbt", source="Orphanet:218/inclusion", source="Orphanet:218"} +xref: icd11.foundation:643994486 {source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10023369 {source="Orphanet:218", source="Orphanet:218/e"} xref: MESH:D007644 {source="https://orcid.org/0000-0003-1967-3726", source="Orphanet:218", source="MONDO:equivalentTo", source="DOID:2734", source="Orphanet:218/e"} @@ -141368,6 +142469,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007430 name: dens evaginatus synonym: "dens evaginatus" EXACT [OMIM:125280] +xref: icd11.foundation:474468588 {source="MONDO:equivalentTo"} xref: OMIM:125280 {source="MONDO:equivalentTo"} xref: SCTID:63691004 {source="MONDO:equivalentTo"} xref: UMLS:C0266034 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:125280"} @@ -141627,6 +142729,7 @@ synonym: "opalescent dentin" RELATED [OMIM:125490] synonym: "opalescent teeth without osteogenesis imperfecta" RELATED [OMIM:125490] xref: GARD:12796 {source="Orphanet:166260"} xref: ICD10CM:K00.5 {source="Orphanet:166260/attributed", source="Orphanet:166260/ntbt", source="Orphanet:166260"} +xref: icd11.foundation:314718507 {source="MONDO:equivalentTo"} xref: OMIM:125490 {source="Orphanet:166260/e", source="MONDO:equivalentTo", source="Orphanet:166260"} xref: Orphanet:166260 {source="MONDO:equivalentTo", source="OMIM:125490"} xref: UMLS:C0205730 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -141654,6 +142757,7 @@ synonym: "dentinogenesis imperfecta, Shields type III" EXACT [OMIM:125500] synonym: "DGI-III" EXACT [OMIM:125500] xref: GARD:10144 {source="Orphanet:166265"} xref: ICD10CM:K00.5 {source="Orphanet:166265/attributed", source="Orphanet:166265/ntbt", source="Orphanet:166265"} +xref: icd11.foundation:518257495 {source="MONDO:equivalentTo"} xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538216 {source="MONDO:equivalentTo"} xref: NORD:1043 {source="MONDO:NORD"} @@ -141736,6 +142840,7 @@ synonym: "dermatosis papulosa nigra (morphologic abnormality)" EXACT [DOID:4400] xref: DOID:4400 {source="MONDO:equivalentTo", source="EFO:1000686"} xref: EFO:1000686 {source="MONDO:equivalentTo"} xref: ICD10CM:L82 {source="DOID:4400", source="MONDO:directSiblingOf"} +xref: icd11.foundation:168986957 {source="MONDO:equivalentTo"} xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562379 {source="DOID:4400", source="MONDO:equivalentTo"} xref: NCIT:C2984 {source="DOID:4400", source="MONDO:equivalentTo"} @@ -141874,6 +142979,7 @@ xref: DOID:12388 {source="MONDO:equivalentTo"} xref: GARD:16629 {source="Orphanet:30925"} xref: GARD:18602 {source="OMIM:125700"} xref: ICD10CM:E23.2 {source="Orphanet:30925/e", source="Orphanet:30925/specific", source="Orphanet:30925"} +xref: icd11.foundation:97299603 {source="MONDO:equivalentTo"} xref: MESH:D020790 {source="DOID:12388"} xref: NCIT:C84933 {source="MONDO:equivalentTo", source="DOID:12388"} xref: OMIM:125700 {source="Orphanet:30925/e", source="MONDO:equivalentTo", source="Orphanet:30925", source="DOID:12388"} @@ -142621,6 +143727,7 @@ synonym: "hereditary benign corneal intraepithelial dyskeratosis" EXACT [Orphane synonym: "Witkop-Von Sallmann disease" EXACT [NCIT:C3940] xref: GARD:17524 {source="Orphanet:352657"} xref: ICD10CM:Q82.8 {source="Orphanet:352657/attributed", source="Orphanet:352657/ntbt", source="Orphanet:352657"} +xref: icd11.foundation:2059594980 {source="MONDO:equivalentTo"} xref: MESH:C562551 {source="MONDO:equivalentTo"} xref: NCIT:C3940 {source="MONDO:equivalentTo"} xref: OMIM:127600 {source="Orphanet:352657/e", source="MONDO:equivalentTo", source="Orphanet:352657"} @@ -142702,6 +143809,7 @@ synonym: "dysplasia epiphysealis hemimelica" EXACT [OMIM:127800] synonym: "Trevor disease" EXACT [OMIM:127800, Orphanet:1822] xref: GARD:2019 {source="Orphanet:1822"} xref: ICD10CM:Q74.8 {source="Orphanet:1822", source="Orphanet:1822/attributed", source="Orphanet:1822/ntbt"} +xref: icd11.foundation:1995096940 {source="MONDO:equivalentTo"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537997 {source="MONDO:equivalentTo", source="Orphanet:1822", source="Orphanet:1822/e"} xref: NORD:1072 {source="MONDO:NORD"} @@ -142730,6 +143838,7 @@ synonym: "Maroteaux-Le Merrer-Bensahel syndrome" EXACT [Orphanet:2767] synonym: "osteochondromatosis, dominant carpotarsal" RELATED [OMIM:127820] xref: GARD:1128 {source="Orphanet:2767"} xref: ICD10CM:D16.9 {source="Orphanet:2767", source="Orphanet:2767/attributed", source="Orphanet:2767/ntbt"} +xref: icd11.foundation:1406756925 {source="MONDO:equivalentTo"} xref: MESH:C565076 {source="MONDO:equivalentTo"} xref: OMIM:127820 {source="MONDO:equivalentTo", source="Orphanet:2767", source="Orphanet:2767/e"} xref: Orphanet:2767 {source="MONDO:equivalentTo", source="OMIM:127820"} @@ -143057,6 +144166,7 @@ synonym: "ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, xref: DOID:0080725 {source="MONDO:equivalentTo"} xref: GARD:2336 {source="Orphanet:1658"} xref: ICD10CM:Q82.8 {source="Orphanet:1658/attributed", source="Orphanet:1658/ntbt", source="Orphanet:1658"} +xref: icd11.foundation:1298640608 {source="MONDO:equivalentTo"} xref: MESH:C537659 {source="MONDO:equivalentTo"} xref: OMIM:129200 {source="Orphanet:1658/e", source="MONDO:equivalentTo", source="Orphanet:1658"} xref: Orphanet:1235 {source="OMIM:129200"} @@ -143089,6 +144199,7 @@ synonym: "Rapp-Hodgkin ectodermal dysplasia syndrome" RELATED [GARD:0005690] synonym: "Rapp-Hodgkin syndrome" EXACT [MONDO:Lexical, OMIM:129400] synonym: "RHS" RELATED ABBREVIATION [MESH:C535289, MONDO:Lexical, OMIM:129400] xref: DOID:0060330 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1455333054 {source="MONDO:equivalentTo"} xref: MESH:C535289 {source="MONDO:equivalentTo"} xref: OMIM:129400 {source="DOID:0060330", source="MONDO:equivalentTo", source="MEDIC:C535289"} xref: Orphanet:1991 {source="OMIM:129400", source="MONDO:relatedTo"} @@ -143244,6 +144355,7 @@ synonym: "ectopia pupillae" EXACT [MONDO:ambiguous, OMIM:129750] synonym: "ectopia pupillae (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "familial ectopic pupil" RELATED [GARD:0008490] xref: HP:0009918 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:70138444 {source="MONDO:equivalentTo"} xref: MESH:C536185 {source="MONDO:equivalentTo"} xref: OMIM:129750 {source="MONDO:equivalentTo"} xref: SCTID:193523008 {source="MONDO:equivalentTo"} @@ -143569,6 +144681,7 @@ synonym: "periodontal EDS" RELATED [GARD:0012474] synonym: "periodontal Ehlers-Danlos syndrome" RELATED [GARD:0012474] xref: GARD:12474 {source="Orphanet:75392"} xref: ICD10CM:Q79.6 {source="Orphanet:75392/attributed", source="Orphanet:75392/ntbt", source="Orphanet:75392"} +xref: icd11.foundation:893527307 {source="MONDO:equivalentTo"} xref: MESH:C562626 {source="MONDO:equivalentTo"} xref: Orphanet:75392 {source="OMIM:130080", source="MONDO:equivalentTo"} xref: SCTID:50869007 {source="MONDO:equivalentTo"} @@ -143603,6 +144716,7 @@ synonym: "eps" RELATED [MONDO:Lexical, OMIM:130100] synonym: "Miescher elastoma" RELATED [OMIM:130100] xref: GARD:10103 {source="Orphanet:79148"} xref: ICD10CM:L87.2 {source="MONDO:equivalentTo", source="Orphanet:79148/ntbt", source="Orphanet:79148"} +xref: icd11.foundation:1430012917 {source="MONDO:equivalentTo"} xref: MedDRA:10014338 {source="Orphanet:79148/e", source="Orphanet:79148"} xref: MESH:C536202 {source="Orphanet:79148/e", source="MONDO:equivalentTo", source="Orphanet:79148"} xref: OMIM:130100 {source="Orphanet:79148/e", source="MONDO:equivalentTo", source="Orphanet:79148"} @@ -143687,6 +144801,7 @@ synonym: "Wiedemann-Beckwith syndrome (WBS)" RELATED [GARD:0003343] xref: DOID:5572 {source="MONDO:equivalentTo"} xref: GARD:3343 {source="Orphanet:116"} xref: ICD10CM:Q87.3 {source="Orphanet:116/ntbt", source="Orphanet:116", source="Orphanet:116/inclusion", source="DOID:5572"} +xref: icd11.foundation:803086260 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10050344 {source="Orphanet:116", source="Orphanet:116/e"} xref: MESH:D001506 {source="Orphanet:116", source="MONDO:equivalentTo", source="Orphanet:116/e", source="DOID:5572"} @@ -143733,6 +144848,7 @@ synonym: "infantile lobar hyperinflation" EXACT [Orphanet:1928] xref: GARD:2104 {source="Orphanet:1928"} xref: ICD10CM:Q33.8 {source="Orphanet:1928", source="Orphanet:1928/attributed", source="Orphanet:1928/ntbt"} xref: icd11.foundation:685349915 {source="Orphanet:1928", source="MONDO:equivalentTo"} +xref: icd11.foundation:685349915 {source="MONDO:equivalentTo"} xref: MedDRA:10010456 {source="Orphanet:1928", source="Orphanet:1928/e"} xref: MESH:C535735 {source="Orphanet:1928", source="MONDO:equivalentTo", source="Orphanet:1928/e"} xref: NCIT:C98895 {source="MONDO:equivalentTo"} @@ -143865,6 +144981,7 @@ xref: DOID:10017 {source="MONDO:equivalentTo"} xref: GARD:3829 {source="Orphanet:652"} xref: ICD10CM:D44.8 {source="Orphanet:652/attributed", source="Orphanet:652/ntbt", source="Orphanet:652"} xref: ICD10CM:E31.21 {source="DOID:10017"} +xref: icd11.foundation:1638765741 {source="MONDO:equivalentTo"} xref: ICD9:237.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:258.01 {source="DOID:10017", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10028190 {source="Orphanet:652/e", source="Orphanet:652"} @@ -144336,6 +145453,7 @@ synonym: "BOE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:132090] synonym: "epilepsy, benign occipital" RELATED [MONDO:Lexical, OMIM:132090] xref: GARD:2170 {source="Orphanet:25968"} xref: ICD10CM:G40.0 {source="Orphanet:25968/attributed", source="Orphanet:25968/ntbt", source="Orphanet:25968"} +xref: icd11.foundation:49954675 {source="MONDO:equivalentTo"} xref: OMIM:132090 {source="Orphanet:25968", source="MONDO:equivalentTo", source="Orphanet:25968/e"} xref: Orphanet:25968 {source="MONDO:equivalentTo", source="OMIM:132090"} xref: UMLS:C1851549 {source="Orphanet:25968", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:25968/e", source="OMIM:132090"} @@ -144401,6 +145519,7 @@ synonym: "Polyepiphyseal dysplasia type 1" EXACT [Orphanet:93308] xref: DOID:0070303 {source="MONDO:equivalentTo"} xref: GARD:2180 {source="Orphanet:93308"} xref: ICD10CM:Q77.3 {source="MONDO:relatedTo", source="Orphanet:93308/attributed", source="Orphanet:93308/ntbt", source="Orphanet:93308"} +xref: icd11.foundation:2130489957 {source="MONDO:equivalentTo"} xref: MESH:C535501 {source="Orphanet:93308/e", source="Orphanet:93308"} xref: OMIM:132400 {source="Orphanet:93308/e", source="MONDO:equivalentTo", source="GARD:0002180", source="Orphanet:93308"} xref: Orphanet:93308 {source="MONDO:equivalentTo", source="OMIM:132400"} @@ -144431,6 +145550,7 @@ synonym: "multiple epiphyseal dysplasia-myopia-deafness syndrome" EXACT [Orphane xref: DOID:0111348 {source="MONDO:equivalentTo"} xref: GARD:17012 {source="Orphanet:166011"} xref: ICD10CM:Q77.3 {source="Orphanet:166011", source="MONDO:relatedTo", source="Orphanet:166011/attributed", source="Orphanet:166011/ntbt"} +xref: icd11.foundation:1115252418 {source="MONDO:equivalentTo"} xref: MESH:C565046 {source="MONDO:equivalentTo"} xref: OMIM:132450 {source="Orphanet:166011", source="MONDO:equivalentTo", source="Orphanet:166011/e", source="MEDIC:C565046"} xref: Orphanet:166011 {source="MONDO:equivalentTo", source="OMIM:132450"} @@ -144471,6 +145591,7 @@ xref: EFO:0009082 {source="MONDO:equivalentTo"} xref: GARD:9452 {source="Orphanet:91414"} xref: ICD10CM:C44.3 {source="Orphanet:91414", source="Orphanet:91414/btnt"} xref: ICD10CM:C44.6 {source="Orphanet:91414", source="Orphanet:91414/btnt"} +xref: icd11.foundation:378820295 {source="MONDO:equivalentTo"} xref: ICDO:8110/0 {source="NCIT:C7368"} xref: MedDRA:10035040 {source="Orphanet:91414/e", source="Orphanet:91414"} xref: MESH:D018296 {source="Orphanet:91414/e", source="MONDO:equivalentTo", source="Orphanet:91414", source="DOID:5374"} @@ -145119,6 +146240,7 @@ synonym: "hemifacial hyperplasia" RELATED [OMIM:133900] synonym: "hemifacial hypertrophy" EXACT [OMIM:133900] xref: GARD:16971 {source="Orphanet:141145"} xref: ICD10CM:Q67.4 {source="Orphanet:141145/inclusion", source="Orphanet:141145", source="Orphanet:141145/ntbt"} +xref: icd11.foundation:2090544963 {source="MONDO:equivalentTo"} xref: OMIM:133900 {source="MONDO:equivalentTo", source="Orphanet:141145", source="Orphanet:141145/e"} xref: Orphanet:141145 {source="MONDO:equivalentTo", source="OMIM:133900"} xref: UMLS:C1399354 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:141145", source="OMIM:133900"} @@ -145356,6 +146478,7 @@ synonym: "FFS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:134780, Orphanet:1988] synonym: "FHUFS" EXACT ABBREVIATION [Orphanet:1988] xref: GARD:61 {source="Orphanet:1988"} xref: ICD10CM:Q87.8 {source="Orphanet:1988/attributed", source="Orphanet:1988/ntbt", source="Orphanet:1988"} +xref: icd11.foundation:505576809 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537916 {source="Orphanet:1988/e", source="MONDO:equivalentTo", source="Orphanet:1988"} xref: NORD:1136 {source="MONDO:NORD"} @@ -145401,6 +146524,7 @@ xref: GARD:6445 {source="Orphanet:337"} xref: ICD10CM:M61.1 {source="Orphanet:337", source="DOID:13374", source="Orphanet:337/e", source="Orphanet:337/specific"} xref: ICD10CM:M61.10 {source="DOID:13374"} xref: icd11.foundation:2102976705 {source="Orphanet:337", source="MONDO:equivalentTo"} +xref: icd11.foundation:2102976705 {source="MONDO:equivalentTo"} xref: ICD9:728.11 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13374"} xref: MedDRA:10068715 {source="Orphanet:337", source="Orphanet:337/e"} xref: MESH:D009221 {source="Orphanet:337", source="MONDO:relatedTo", source="DOID:13374", source="Orphanet:337/e"} @@ -145604,6 +146728,7 @@ synonym: "Tukel syndrome" NARROW [DOID:0080143] xref: DOID:0080143 {source="MONDO:equivalentTo"} xref: GARD:12590 {source="Orphanet:45358"} xref: ICD10CM:H49.8 {source="Orphanet:45358", source="Orphanet:45358/attributed", source="Orphanet:45358/ntbt"} +xref: icd11.foundation:887449084 {source="MONDO:equivalentTo"} xref: ICD9:728.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NORD:997 {source="MONDO:NORD"} xref: OMIMPS:135700 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} @@ -145641,6 +146766,7 @@ synonym: "tetramelic mirror-Image polydactyly" RELATED [OMIM:135750] xref: DOID:0111350 {source="MONDO:equivalentTo"} xref: GARD:155 {source="Orphanet:2378"} xref: ICD10CM:Q87.2 {source="Orphanet:2378/attributed", source="Orphanet:2378/ntbt", source="Orphanet:2378"} +xref: icd11.foundation:671594481 {source="MONDO:equivalentTo"} xref: MESH:C535689 {source="Orphanet:2378", source="MONDO:equivalentTo", source="Orphanet:2378/e"} xref: OMIM:135750 {source="Orphanet:2378", source="MONDO:equivalentTo", source="Orphanet:2378/e"} xref: Orphanet:2378 {source="MONDO:equivalentTo", source="OMIM:135750"} @@ -145801,6 +146927,7 @@ synonym: "short stature with delayed bone age, expressive language delay, a tria xref: DOID:0111358 {source="MONDO:equivalentTo"} xref: GARD:6455 {source="Orphanet:2044"} xref: ICD10CM:Q87.8 {source="Orphanet:2044", source="Orphanet:2044/attributed", source="Orphanet:2044/ntbt"} +xref: icd11.foundation:2101730645 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537062 {source="Orphanet:2044", source="MONDO:equivalentTo", source="Orphanet:2044/e"} xref: NCIT:C175241 {source="MONDO:equivalentTo"} @@ -145988,6 +147115,7 @@ synonym: "retinal pigment epithelial dystrophy, central" RELATED [OMIM:136550] xref: DOID:0070439 {source="MONDO:equivalentTo"} xref: GARD:9179 {source="Orphanet:75327"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:75327", source="Orphanet:75327/attributed", source="Orphanet:75327/ntbt"} +xref: icd11.foundation:1931008217 {source="MONDO:equivalentTo"} xref: MESH:C537835 {source="MONDO:equivalentTo", source="Orphanet:75327", source="Orphanet:75327/e"} xref: OMIM:136550 {source="MONDO:equivalentTo", source="Orphanet:75327", source="Orphanet:75327/e"} xref: Orphanet:75327 {source="OMIM:136550", source="MONDO:equivalentTo"} @@ -146072,6 +147200,7 @@ synonym: "Frasier syndrome, autosomal dominant, somatic mutation" EXACT [OMIM:13 xref: DOID:0050438 {source="MONDO:equivalentTo"} xref: GARD:2375 {source="Orphanet:347"} xref: ICD10CM:N04.1 {source="Orphanet:347/attributed", source="Orphanet:347/ntbt", source="Orphanet:347"} +xref: icd11.foundation:1659542949 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D052159 {source="Orphanet:347", source="MONDO:equivalentTo", source="DOID:0050438", source="Orphanet:347/e"} xref: NCIT:C122805 {source="MONDO:equivalentTo", source="DOID:0050438"} @@ -146170,6 +147299,7 @@ xref: DOID:11105 {source="MONDO:equivalentTo"} xref: GARD:13809 {source="Orphanet:227796"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:227796/attributed", source="Orphanet:227796/ntbt", source="Orphanet:227796"} xref: ICD10CM:H35.52 {source="DOID:11105"} +xref: icd11.foundation:1981512475 {source="MONDO:equivalentTo"} xref: ICD9:362.74 {source="DOID:11105", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:362.76 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:C562733 {source="DOID:11105", source="MONDO:equivalentTo"} @@ -146205,6 +147335,7 @@ xref: DOID:0090114 {source="MONDO:equivalentTo"} xref: GARD:10511 {source="OMIM:136900"} xref: GARD:16480 {source="Orphanet:59181"} xref: ICD10CM:H35.5 {source="Orphanet:59181/attributed", source="Orphanet:59181/ntbt", source="Orphanet:59181"} +xref: icd11.foundation:796458172 {source="MONDO:equivalentTo"} xref: MESH:C564992 {source="MONDO:equivalentTo"} xref: OMIM:136900 {source="Orphanet:59181", source="MONDO:equivalentTo", source="DOID:0090114", source="Orphanet:59181/e"} xref: Orphanet:59181 {source="MONDO:equivalentTo", source="OMIM:136900"} @@ -146313,6 +147444,7 @@ synonym: "NMAN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:137200] xref: DOID:0050526 {source="MONDO:equivalentTo"} xref: GARD:12353 {source="Orphanet:324442"} xref: ICD10CM:G60.0 {source="Orphanet:324442/attributed", source="Orphanet:324442/ntbt", source="Orphanet:324442"} +xref: icd11.foundation:1738677442 {source="MONDO:equivalentTo"} xref: OMIM:137200 {source="Orphanet:324442/e", source="MONDO:equivalentTo", source="DOID:0050526", source="Orphanet:324442"} xref: Orphanet:324442 {source="OMIM:137200", source="MONDO:equivalentTo"} xref: SCTID:711406009 {source="MONDO:equivalentTo"} @@ -146437,6 +147569,7 @@ subset: rare synonym: "gastrocutaneous syndrome" EXACT [OMIM:137270] synonym: "peptic Ulcer/hiatal hernia, multiple lentigines/cafe-Au-lait Spots, hypertelorism, myopia" RELATED [OMIM:137270] xref: GARD:2438 {source="Orphanet:2069"} +xref: icd11.foundation:1431211717 {source="MONDO:equivalentTo"} xref: MESH:C535651 {source="Orphanet:2069", source="MONDO:equivalentTo", source="Orphanet:2069/e"} xref: OMIM:137270 {source="Orphanet:2069", source="MONDO:equivalentTo", source="Orphanet:2069/e"} xref: Orphanet:2069 {source="MONDO:equivalentTo", source="OMIM:137270"} @@ -146498,6 +147631,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: prototype_pattern subset: rare synonym: "genochondromatosis" EXACT [OMIM:137360] +xref: icd11.foundation:1222756922 {source="MONDO:equivalentTo"} xref: MESH:C563215 {source="MONDO:equivalentTo"} xref: OMIM:137360 {source="MONDO:equivalentTo"} xref: Orphanet:85197 {source="OMIM:137360"} @@ -146546,6 +147680,7 @@ synonym: "scrotal tongue" EXACT [DOID:11514, OMIM:137400] synonym: "tongue, fissured" EXACT [DOID:11514] xref: DOID:11514 {source="MONDO:equivalentTo"} xref: ICD10CM:K14.5 {source="DOID:11514", source="MONDO:equivalentTo"} +xref: icd11.foundation:699700094 {source="MONDO:equivalentTo"} xref: ICD9:529.5 {source="DOID:11514", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:750.13 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D014063 {source="DOID:11514", source="MONDO:equivalentTo"} @@ -146584,6 +147719,7 @@ xref: GARD:7690 {source="Orphanet:356"} xref: ICD10CM:A81.8 {source="Orphanet:356", source="Orphanet:356/attributed", source="Orphanet:356/ntbt"} xref: ICD10CM:A81.82 {source="MONDO:equivalentTo", source="DOID:4249"} xref: icd11.foundation:406818835 {source="Orphanet:356", source="MONDO:equivalentTo"} +xref: icd11.foundation:406818835 {source="MONDO:equivalentTo"} xref: ICD9:046.71 {source="DOID:4249"} xref: MedDRA:10072075 {source="Orphanet:356", source="Orphanet:356/e"} xref: MESH:C535800 {source="MONDO:equivalentTo"} @@ -146674,6 +147810,7 @@ synonym: "Tourette's syndrome" EXACT [NCIT:C35078] xref: DOID:11119 {source="MONDO:equivalentTo"} xref: EFO:0004895 {source="DOID:11119", source="MONDO:equivalentTo"} xref: ICD10CM:F95.2 {source="DOID:11119"} +xref: icd11.foundation:119340957 {source="MONDO:equivalentTo"} xref: ICD9:307.23 {source="DOID:11119"} xref: MESH:D005879 {source="EFO:0004895", source="DOID:11119", source="MONDO:equivalentTo"} xref: NCIT:C35078 {source="EFO:0004895", source="DOID:11119", source="MONDO:equivalentTo"} @@ -146830,6 +147967,7 @@ xref: EFO:1000553 {source="MONDO:equivalentTo"} xref: EFO:1001197 {source="MONDO:equivalentTo"} xref: GARD:10070 {source="Orphanet:251639"} xref: ICD10CM:D43.2 {source="Orphanet:251639", source="Orphanet:251639/ntbt"} +xref: icd11.foundation:1580118719 {source="MONDO:equivalentTo"} xref: ICDO:9383/1 {source="NCIT:C3795"} xref: MESH:D018315 {source="EFO:1001197", source="MONDO:equivalentTo", source="DOID:4843"} xref: NCIT:C3795 {source="EFO:1000553", source="MONDO:equivalentTo", source="DOID:4843"} @@ -146939,6 +148077,7 @@ synonym: "glomerulopathy with giant fibrillar deposits" RELATED [GARD:0009268, M synonym: "lobular glomerulopathy, familial" RELATED [MESH:C536826] xref: GARD:15019 {source="Orphanet:84090"} xref: ICD10CM:N07.6 {source="Orphanet:84090", source="Orphanet:84090/attributed", source="Orphanet:84090/ntbt"} +xref: icd11.foundation:1877494378 {source="MONDO:equivalentTo"} xref: icd11.foundation:1877494378 {source="MONDO:equivalentTo", source="Orphanet:84090"} xref: MESH:C536826 {source="MONDO:equivalentTo"} xref: MESH:C562900 {source="MONDO:equivalentTo"} @@ -146976,6 +148115,7 @@ synonym: "VMGLOM" EXACT ABBREVIATION [Orphanet:83454] xref: DOID:7996 {source="MONDO:equivalentTo"} xref: GARD:16728 {source="Orphanet:83454"} xref: ICD10CM:Q27.8 {source="Orphanet:83454/attributed", source="Orphanet:83454/ntbt", source="Orphanet:83454"} +xref: icd11.foundation:2095305475 {source="MONDO:equivalentTo"} xref: MedDRA:10018381 {source="Orphanet:83454", source="Orphanet:83454/e"} xref: MESH:C536827 {source="Orphanet:83454", source="MONDO:equivalentTo", source="Orphanet:83454/e"} xref: NCIT:C5350 {source="DOID:7996", source="MONDO:equivalentTo"} @@ -146993,6 +148133,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007673 name: Glucoglycinuria synonym: "Glucoglycinuria" EXACT [OMIM:138070] +xref: icd11.foundation:2034546543 {source="MONDO:equivalentTo"} xref: MESH:C562670 {source="MONDO:equivalentTo"} xref: OMIM:138070 {source="MONDO:equivalentTo"} xref: UMLS:C0268536 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:138070"} @@ -147165,6 +148306,7 @@ synonym: "Grant syndrome" EXACT [OMIM:138930] synonym: "persistent wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae and campomelia" RELATED [GARD:0002559] xref: GARD:2559 {source="Orphanet:2097"} xref: ICD10CM:Q87.5 {source="Orphanet:2097/attributed", source="Orphanet:2097/ntbt", source="Orphanet:2097"} +xref: icd11.foundation:1320218486 {source="MONDO:equivalentTo"} xref: MESH:C537293 {source="Orphanet:2097/e", source="MONDO:equivalentTo", source="Orphanet:2097"} xref: OMIM:138930 {source="Orphanet:2097/e", source="MONDO:equivalentTo", source="Orphanet:2097"} xref: Orphanet:2097 {source="MONDO:equivalentTo", source="OMIM:138930"} @@ -147187,6 +148329,7 @@ replaced_by: MONDO:0010600 id: MONDO:0007685 name: granulosis rubra nasi synonym: "granulosis rubra nasi" EXACT [OMIM:139000] +xref: icd11.foundation:1871134805 {source="MONDO:equivalentTo"} xref: ICD9:705.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562483 {source="MONDO:equivalentTo"} xref: OMIM:139000 {source="MONDO:equivalentTo"} @@ -147214,6 +148357,7 @@ synonym: "platelet-type bleeding disorder 4" EXACT [DOID:0111044] xref: DOID:0111044 {source="MONDO:equivalentTo"} xref: GARD:2562 {source="Orphanet:721"} xref: ICD10CM:D69.1 {source="Orphanet:721/ntbt", source="Orphanet:721", source="DOID:0111044", source="Orphanet:721/inclusion"} +xref: icd11.foundation:1818085572 {source="MONDO:equivalentTo"} xref: MESH:D055652 {source="Orphanet:721", source="MONDO:equivalentTo", source="Orphanet:721/e", source="DOID:0111044"} xref: NCIT:C84741 {source="MONDO:equivalentTo"} xref: OMIM:139090 {source="Orphanet:721", source="MONDO:equivalentTo", source="Orphanet:721/e", source="DOID:0111044"} @@ -147305,6 +148449,7 @@ synonym: "increased aromatase activity" EXACT [DOID:0090122] xref: DOID:0090122 {source="MONDO:equivalentTo"} xref: GARD:12494 {source="Orphanet:178345"} xref: ICD10CM:E30.1 {source="Orphanet:178345/attributed", source="Orphanet:178345/ntbt", source="DOID:0090122", source="Orphanet:178345"} +xref: icd11.foundation:191989744 {source="MONDO:equivalentTo"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C000591739 {source="MONDO:equivalentTo"} xref: OMIM:139300 {source="DOID:0090122", source="Orphanet:178345", source="MONDO:equivalentTo", source="Orphanet:178345/e"} @@ -147528,6 +148673,7 @@ synonym: "thyroiditis, Hashimoto" RELATED [MESH:D050031] xref: DOID:7188 {source="MONDO:equivalentTo", source="EFO:0003779"} xref: EFO:0003779 {source="MONDO:equivalentTo"} xref: ICD10CM:E06.3 {source="MONDO:equivalentTo", source="DOID:7188"} +xref: icd11.foundation:972507934 {source="MONDO:equivalentTo"} xref: ICD9:245.2 {source="EFO:0003779"} xref: MESH:D013967 {source="DOID:7188"} xref: MESH:D050031 {source="MONDO:equivalentTo", source="EFO:0003779"} @@ -147563,6 +148709,7 @@ synonym: "hawkinsinuria" EXACT CLINGEN_LABEL [OMIM:140350] xref: DOID:0111362 {source="MONDO:equivalentTo"} xref: GARD:5668 {source="Orphanet:2118"} xref: ICD10CM:E70.2 {source="Orphanet:2118", source="Orphanet:2118/attributed", source="Orphanet:2118/ntbt"} +xref: icd11.foundation:786595759 {source="MONDO:equivalentTo"} xref: MESH:C535845 {source="MONDO:equivalentTo", source="Orphanet:2118", source="Orphanet:2118/e"} xref: OMIM:140350 {source="MONDO:equivalentTo", source="Orphanet:2118", source="Orphanet:2118/e"} xref: Orphanet:2118 {source="MONDO:equivalentTo", source="OMIM:140350"} @@ -147612,6 +148759,7 @@ synonym: "heart-limb syndrome type 3" EXACT [Orphanet:1342] synonym: "upper limb malformations and congenital cardiac anomalies" RELATED [GARD:0002614] xref: GARD:2614 {source="Orphanet:1342"} xref: ICD10CM:Q87.2 {source="Orphanet:1342/attributed", source="Orphanet:1342/ntbt", source="Orphanet:1342"} +xref: icd11.foundation:1878745129 {source="MONDO:equivalentTo"} xref: MESH:C535853 {source="MONDO:equivalentTo"} xref: OMIM:140450 {source="Orphanet:1342", source="MONDO:equivalentTo", source="Orphanet:1342/e"} xref: Orphanet:1342 {source="MONDO:equivalentTo", source="OMIM:140450"} @@ -147725,6 +148873,7 @@ synonym: "thrombocytopenia-hemangioma syndrome" EXACT [GARD:0000070, NCIT:C3821] synonym: "thrombopenia-hemangioma syndrome" EXACT [NCIT:C3821] xref: GARD:70 {source="Orphanet:2330"} xref: ICD10CM:D18.0 {source="Orphanet:2330", source="Orphanet:2330/ntbt"} +xref: icd11.foundation:2059601885 {source="MONDO:equivalentTo"} xref: ICD9:287.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10058423 {source="Orphanet:2330", source="Orphanet:2330/e"} xref: MESH:D059885 {source="MONDO:equivalentTo"} @@ -147859,6 +149008,7 @@ synonym: "hemifacial spasm, familial" RELATED [OMIM:141405] xref: GARD:17137 {source="Orphanet:221083"} xref: ICD10CM:G51.3 {source="Orphanet:221083/e", source="MONDO:equivalentTo", source="Orphanet:221083"} xref: icd11.foundation:353312397 {source="MONDO:equivalentTo", source="Orphanet:221083", source="https://orcid.org/0000-0002-4142-7153"} +xref: icd11.foundation:64352031 {source="MONDO:equivalentTo"} xref: MESH:C564198 {source="MONDO:equivalentTo"} xref: OMIM:141405 {source="Orphanet:221083/e", source="MONDO:equivalentTo", source="Orphanet:221083"} xref: Orphanet:221083 {source="OMIM:141405", source="MONDO:equivalentTo"} @@ -148101,6 +149251,7 @@ subset: rare synonym: "histiocytosis, progressive mucinous" RELATED [OMIM:142630] xref: GARD:16989 {source="Orphanet:158025"} xref: ICD10CM:D76.3 {source="Orphanet:158025", source="Orphanet:158025/ntbt"} +xref: icd11.foundation:284196883 {source="MONDO:equivalentTo"} xref: MESH:C564186 {source="MONDO:equivalentTo"} xref: OMIM:142630 {source="Orphanet:158025", source="MONDO:equivalentTo", source="Orphanet:158025/e"} xref: Orphanet:158025 {source="MONDO:equivalentTo", source="OMIM:142630"} @@ -148465,6 +149616,7 @@ xref: DOID:12858 {source="MONDO:equivalentTo"} xref: GARD:6677 {source="Orphanet:399"} xref: ICD10CM:G10 {source="Orphanet:399/specific", source="DOID:12858", source="Orphanet:399/e", source="Orphanet:399"} xref: ICD10CM:G10-G14 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} +xref: icd11.foundation:2132180242 {source="MONDO:equivalentTo"} xref: icd11.foundation:2132180242 {source="MONDO:equivalentTo", source="Orphanet:399"} xref: ICD9:333.4 {source="DOID:12858", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10070668 {source="Orphanet:399/e", source="Orphanet:399"} @@ -148511,6 +149663,7 @@ synonym: "WGN1" RELATED ABBREVIATION [GARD:0007871] synonym: "WGVRP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:143200] xref: GARD:7871 {source="Orphanet:898"} xref: ICD10CM:H35.5 {source="Orphanet:898", source="MONDO:relatedTo", source="Orphanet:898/attributed", source="Orphanet:898/ntbt"} +xref: icd11.foundation:780893571 {source="MONDO:equivalentTo"} xref: MedDRA:10063383 {source="Orphanet:898", source="Orphanet:898/e"} xref: MESH:C536075 {source="Orphanet:898", source="MONDO:equivalentTo", source="Orphanet:898/e"} xref: OMIM:143200 {source="Orphanet:898", source="MONDO:equivalentTo", source="Orphanet:898/e"} @@ -148530,6 +149683,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:2190"} subset: orphanet_rare {source="Orphanet:2190"} subset: rare xref: ICD10CM:Q62.0 {source="MONDO:equivalentTo", source="Orphanet:2190/specific", source="Orphanet:2190", source="Orphanet:2190/e"} +xref: icd11.foundation:808343797 {source="MONDO:equivalentTo"} xref: ICD9:753.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10050975 {source="Orphanet:2190", source="Orphanet:2190/e"} xref: NCIT:C102979 {source="MONDO:equivalentTo"} @@ -148622,6 +149776,7 @@ synonym: "hyperbilirubinemia, Gilbert type" RELATED [OMIM:143500] xref: DOID:2739 {source="EFO:0005556", source="MONDO:equivalentTo"} xref: EFO:0005556 {source="MONDO:equivalentTo"} xref: ICD10CM:E80.4 {source="MONDO:equivalentTo", source="DOID:2739"} +xref: icd11.foundation:1947520963 {source="MONDO:equivalentTo"} xref: MESH:D005878 {source="EFO:0005556", source="MONDO:equivalentTo", source="DOID:2739"} xref: NCIT:C84729 {source="EFO:0005556", source="MONDO:equivalentTo", source="DOID:2739"} xref: OMIM:143500 {source="EFO:0005556", source="MONDO:equivalentTo", source="DOID:2739"} @@ -149079,6 +150234,7 @@ synonym: "Worth's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MOND xref: DOID:0080037 {source="MONDO:equivalentTo"} xref: GARD:390 {source="Orphanet:2790"} xref: ICD10CM:Q78.2 {source="Orphanet:2790/attributed", source="Orphanet:2790/ntbt", source="Orphanet:2790"} +xref: icd11.foundation:1038854228 {source="MONDO:equivalentTo"} xref: OMIM:144750 {source="Orphanet:2790/e", source="MONDO:equivalentTo", source="Orphanet:2790"} xref: OMIM:607636 {source="MONDO:equivalentObsolete", source="DOID:0080037"} xref: Orphanet:2790 {source="MONDO:equivalentTo", source="OMIM:144750"} @@ -149281,6 +150437,7 @@ synonym: "PHA2A" EXACT ABBREVIATION [MONDO:Lexical, OMIM:145260, Orphanet:88938] synonym: "pseudohypoaldosteronism, type IIA" RELATED [MONDO:Lexical, OMIM:145260] xref: GARD:16775 {source="Orphanet:88938"} xref: ICD10CM:I15.1 {source="Orphanet:88938/attributed", source="Orphanet:88938/ntbt", source="Orphanet:88938"} +xref: icd11.foundation:646091849 {source="MONDO:equivalentTo"} xref: OMIM:145260 {source="Orphanet:88938/e", source="MONDO:equivalentTo", source="Orphanet:88938"} xref: Orphanet:757 {source="OMIM:145260"} xref: Orphanet:88938 {source="OMIM:145260", source="MONDO:equivalentTo"} @@ -149307,6 +150464,7 @@ synonym: "HRX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:145290] synonym: "hyperreflexia" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:145290] synonym: "hyperreflexia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0001347 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:514864448 {source="MONDO:equivalentTo"} xref: MESH:D012021 {source="MONDO:equivalentTo"} xref: OMIM:145290 {source="MONDO:equivalentTo"} xref: UMLS:C0151889 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:145290"} @@ -149517,6 +150675,7 @@ synonym: "PRTH" EXACT ABBREVIATION [MONDO:Lexical, OMIM:145650, PMID:8475937] synonym: "thyroid hormone resistance, selective pituitary" RELATED [MONDO:Lexical, OMIM:145650] xref: DOID:0111374 {source="MONDO:equivalentTo"} xref: ICD10CM:E05.8 {source="Orphanet:165994", source="Orphanet:165994/attributed", source="Orphanet:165994/ntbt"} +xref: icd11.foundation:482664523 {source="MONDO:equivalentTo"} xref: MESH:C564154 {source="MONDO:equivalentTo"} xref: OMIM:145650 {source="MONDO:equivalentTo", source="Orphanet:165994", source="Orphanet:165994/e"} xref: Orphanet:165994 {source="MONDO:equivalentObsolete", source="OMIM:145650"} @@ -149734,6 +150893,7 @@ xref: DOID:0080041 {source="MONDO:equivalentTo"} xref: GARD:6724 {source="Orphanet:429"} xref: ICD10CM:Q77.4 {source="Orphanet:429/inclusion", source="Orphanet:429", source="MONDO:directSiblingOf", source="Orphanet:429/ntbt"} xref: icd11.foundation:1930265486 {source="MONDO:equivalentTo", source="Orphanet:429"} +xref: icd11.foundation:1930265486 {source="MONDO:equivalentTo"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10020967 {source="Orphanet:429", source="Orphanet:429/e"} xref: MESH:C562937 {source="MONDO:equivalentTo"} @@ -149997,6 +151157,7 @@ xref: EFO:1001050 {source="MONDO:equivalentTo"} xref: GARD:7079 {source="Orphanet:102"} xref: ICD10CM:G90.3 {source="Orphanet:102/e", source="Orphanet:102"} xref: icd11.foundation:1890931931 {source="MONDO:equivalentTo", source="Orphanet:102"} +xref: icd11.foundation:1890931931 {source="MONDO:equivalentTo"} xref: MedDRA:10064060 {source="Orphanet:102/e", source="Orphanet:102"} xref: MESH:D012791 {source="DOID:4752"} xref: MESH:D019578 {source="DOID:4752", source="Orphanet:102/e", source="MONDO:equivalentTo", source="Orphanet:102"} @@ -150034,6 +151195,7 @@ synonym: "PHS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:146510] xref: DOID:9248 {source="MONDO:equivalentTo"} xref: GARD:7305 {source="Orphanet:672"} xref: ICD10CM:D33.0 {source="Orphanet:672/attributed", source="Orphanet:672/ntbt", source="Orphanet:672"} +xref: icd11.foundation:1845613381 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D054975 {source="DOID:9248", source="Orphanet:672/e", source="MONDO:equivalentTo", source="Orphanet:672"} xref: NCIT:C84987 {source="DOID:9248", source="MONDO:equivalentTo"} @@ -150246,6 +151408,7 @@ synonym: "superficial epidermolytic ichthyosis" EXACT [DOID:0060877, PMID:206434 xref: DOID:0060877 {source="MONDO:equivalentTo"} xref: GARD:2966 {source="Orphanet:455"} xref: ICD10CM:Q80.8 {source="Orphanet:455", source="Orphanet:455/attributed", source="Orphanet:455/ntbt", source="DOID:0060877"} +xref: icd11.foundation:842172475 {source="MONDO:equivalentTo"} xref: MESH:D053560 {source="Orphanet:455", source="MONDO:equivalentTo", source="Orphanet:455/e", source="DOID:0060877"} xref: NCIT:C84777 {source="MONDO:equivalentTo"} xref: OMIM:146800 {source="Orphanet:455", source="MONDO:equivalentTo", source="Orphanet:455/e", source="DOID:0060877"} @@ -150406,6 +151569,7 @@ synonym: "solitary MEDIAN maxillary central incisor" RELATED [MONDO:Lexical, OMI synonym: "solitary median maxillary central incisor syndrome" EXACT [OMIM:147250] xref: GARD:4877 {source="OMIM:147250"} xref: ICD10CM:K00.2 {source="Orphanet:2286", source="Orphanet:2286/attributed", source="Orphanet:2286/ntbt"} +xref: icd11.foundation:1834868112 {source="MONDO:equivalentTo"} xref: MESH:C537342 {source="Orphanet:2286", source="MONDO:equivalentTo", source="Orphanet:2286/e"} xref: OMIM:147250 {source="Orphanet:2286", source="MONDO:equivalentTo", source="Orphanet:2286/e"} xref: Orphanet:2162 {source="OMIM:147250"} @@ -150432,6 +151596,7 @@ synonym: "Double tooth" RELATED [GARD:0002419] synonym: "incisors, FUSED mandibular" RELATED [OMIM:147251] xref: GARD:2419 {source="Orphanet:2287"} xref: ICD10CM:K00.2 {source="Orphanet:2287", source="Orphanet:2287/attributed", source="Orphanet:2287/ntbt"} +xref: icd11.foundation:1109888650 {source="MONDO:equivalentTo"} xref: MESH:C535997 {source="Orphanet:2287", source="Orphanet:2287/e"} xref: OMIM:147251 {source="Orphanet:2287", source="MONDO:equivalentTo", source="Orphanet:2287/e"} xref: Orphanet:2287 {source="OMIM:147251", source="MONDO:equivalentTo"} @@ -150626,6 +151791,7 @@ synonym: "INSULINOMATOSIS and diabetes mellitus" RELATED [OMIM:147630] synonym: "Insulinomatosis and diabetes mellitus" RELATED [OMIM:147630] synonym: "islet cell adenomatosis" EXACT [OMIM:147630] synonym: "nesidioblastosis" RELATED [NCIT:C4375] +xref: icd11.foundation:207719078 {source="MONDO:equivalentTo"} xref: MESH:C563258 {source="MONDO:equivalentTo"} xref: NCIT:C4375 {source="MONDO:equivalentTo"} xref: OMIM:147630 {source="MONDO:equivalentTo"} @@ -150705,6 +151871,7 @@ synonym: "Johnson neuroectodermal syndrome" EXACT [OMIM:147770] synonym: "Johnson-McMillin syndrome" EXACT [OMIM:147770, Orphanet:2316] xref: GARD:378 {source="Orphanet:2316"} xref: ICD10CM:Q87.8 {source="Orphanet:2316", source="Orphanet:2316/attributed", source="Orphanet:2316/ntbt"} +xref: icd11.foundation:1480597785 {source="MONDO:equivalentTo"} xref: MESH:C535882 {source="MONDO:equivalentTo", source="Orphanet:2316", source="Orphanet:2316/e"} xref: OMIM:147770 {source="MONDO:equivalentTo", source="Orphanet:2316", source="Orphanet:2316/e"} xref: Orphanet:2316 {source="OMIM:147770", source="MONDO:equivalentTo"} @@ -150741,6 +151908,7 @@ synonym: "telomeric deletion 11q" EXACT [Orphanet:2308] xref: DOID:0111723 {source="MONDO:equivalentTo"} xref: GARD:307 {source="Orphanet:2308"} xref: ICD10CM:Q93.5 {source="Orphanet:2308", source="Orphanet:2308/attributed", source="Orphanet:2308/ntbt"} +xref: icd11.foundation:27788176 {source="MONDO:equivalentTo"} xref: MESH:D054868 {source="Orphanet:2308/e", source="Orphanet:2308"} xref: NCIT:C75457 {source="MONDO:equivalentTo"} xref: OMIM:147791 {source="Orphanet:2308/e", source="MONDO:equivalentTo", source="Orphanet:2308"} @@ -150813,6 +151981,7 @@ synonym: "SPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:147891, Orphanet:1509] xref: DOID:0111382 {source="MONDO:equivalentTo"} xref: GARD:3030 {source="Orphanet:1509"} xref: ICD10CM:Q74.1 {source="Orphanet:1509/attributed", source="Orphanet:1509/ntbt", source="Orphanet:1509"} +xref: icd11.foundation:794154672 {source="MONDO:equivalentTo"} xref: MESH:C535540 {source="MONDO:equivalentTo"} xref: OMIM:147891 {source="Orphanet:1509/e", source="MONDO:equivalentTo", source="Orphanet:1509"} xref: Orphanet:1509 {source="OMIM:147891", source="MONDO:equivalentTo"} @@ -150940,6 +152109,7 @@ synonym: "short stature-facial and skeletal anomalies-intellectual disability-ma xref: DOID:14780 {source="MONDO:equivalentTo"} xref: GARD:82 {source="Orphanet:2332"} xref: ICD10CM:Q87.8 {source="Orphanet:2332/attributed", source="Orphanet:2332/ntbt", source="Orphanet:2332"} +xref: icd11.foundation:465550090 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537015 {source="Orphanet:2332", source="DOID:14780", source="MONDO:equivalentTo", source="Orphanet:2332/e"} xref: NORD:1322 {source="MONDO:NORD"} @@ -150980,6 +152150,7 @@ synonym: "keratitis, hereditary" RELATED [OMIM:148190] xref: DOID:0111383 {source="MONDO:equivalentTo"} xref: GARD:3089 {source="Orphanet:2334"} xref: ICD10CM:H16.8 {source="Orphanet:2334/attributed", source="Orphanet:2334/ntbt", source="Orphanet:2334"} +xref: icd11.foundation:682617640 {source="MONDO:equivalentTo"} xref: MESH:C537022 {source="Orphanet:2334", source="MONDO:equivalentTo", source="Orphanet:2334/e"} xref: OMIM:148190 {source="Orphanet:2334", source="MONDO:equivalentTo", source="Orphanet:2334/e"} xref: Orphanet:2334 {source="MONDO:equivalentTo", source="OMIM:148190"} @@ -151122,6 +152293,7 @@ synonym: "Oudtshoorn disease" EXACT [Orphanet:50943] synonym: "Oudtshoorn skin" RELATED [GARD:0008275] synonym: "Oudtshoorn skin disease" RELATED [OMIM:148370] xref: GARD:8275 {source="Orphanet:50943"} +xref: icd11.foundation:1491245207 {source="MONDO:equivalentTo"} xref: ICD9:695.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536155 {source="MONDO:equivalentTo", source="Orphanet:50943", source="Orphanet:50943/e"} xref: NORD:1286 {source="MONDO:NORD"} @@ -151329,6 +152501,7 @@ synonym: "WS3" EXACT ABBREVIATION [DOID:0110949, MONDO:Lexical, OMIM:148820, Orp xref: DOID:0110949 {source="MONDO:equivalentTo"} xref: GARD:5523 {source="Orphanet:896"} xref: ICD10CM:E70.3 {source="Orphanet:896", source="MONDO:relatedTo", source="Orphanet:896/attributed", source="Orphanet:896/ntbt", source="DOID:0110949"} +xref: icd11.foundation:847608197 {source="MONDO:equivalentTo"} xref: OMIM:148820 {source="Orphanet:896", source="MONDO:equivalentTo", source="Orphanet:896/e", source="DOID:0110949"} xref: Orphanet:3440 {source="OMIM:148820"} xref: Orphanet:896 {source="MONDO:equivalentTo", source="DOID:0110949", source="OMIM:148820"} @@ -151359,6 +152532,7 @@ xref: EFO:1001354 {source="MONDO:equivalentTo"} xref: GARD:3117 {source="Orphanet:33543"} xref: ICD10CM:G47.8 {source="Orphanet:33543", source="Orphanet:33543/ntbt"} xref: icd11.foundation:1180849398 {source="Orphanet:33543", source="MONDO:equivalentTo"} +xref: icd11.foundation:1180849398 {source="MONDO:equivalentTo"} xref: MedDRA:10053712 {source="Orphanet:33543", source="Orphanet:33543/e"} xref: MESH:D017593 {source="Orphanet:33543", source="MONDO:equivalentTo", source="Orphanet:33543/e"} xref: NCIT:C84800 {source="MONDO:equivalentTo"} @@ -151434,6 +152608,7 @@ id: MONDO:0007865 name: knuckle pads synonym: "knuckle pads" EXACT [OMIM:149100] xref: ICD10CM:M72.1 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1824875472 {source="MONDO:equivalentTo"} xref: ICD9:728.79 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:149100 {source="MONDO:equivalentTo"} xref: SCTID:16687001 {source="MONDO:equivalentTo"} @@ -151682,6 +152857,7 @@ synonym: "LRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:150250] xref: DOID:14764 {source="MONDO:equivalentTo"} xref: GARD:6860 {source="Orphanet:503"} xref: ICD10CM:Q74.8 {source="Orphanet:503/inclusion", source="Orphanet:503/ntbt", source="Orphanet:503"} +xref: icd11.foundation:607849551 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C580241 {source="MONDO:equivalentTo"} xref: NORD:1349 {source="MONDO:NORD"} @@ -151717,6 +152893,7 @@ synonym: "vocal cord dysfunction familial" RELATED [GARD:0005509] synonym: "vocal cord dysfunction, familial" RELATED [OMIM:150260] xref: GARD:5509 {source="Orphanet:2808"} xref: ICD10CM:J38.0 {source="Orphanet:2808", source="Orphanet:2808/attributed", source="Orphanet:2808/ntbt"} +xref: icd11.foundation:965049946 {source="MONDO:equivalentTo"} xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:150260 {source="Orphanet:2808", source="MONDO:equivalentTo", source="Orphanet:2808/e"} xref: Orphanet:2808 {source="MONDO:equivalentTo", source="OMIM:150260"} @@ -151752,6 +152929,7 @@ synonym: "laryngomalacia congenital" RELATED [GARD:0006865] xref: DOID:0080833 {source="MONDO:equivalentTo"} xref: GARD:6865 {source="Orphanet:2373"} xref: ICD10CM:Q31.5 {source="Orphanet:2373/specific", source="Orphanet:2373/e", source="MONDO:equivalentTo", source="Orphanet:2373"} +xref: icd11.foundation:64182721 {source="MONDO:equivalentTo"} xref: icd11.foundation:64182721 {source="MONDO:equivalentTo", source="Orphanet:2373"} xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10060786 {source="Orphanet:2373/e", source="Orphanet:2373"} @@ -151810,6 +152988,7 @@ synonym: "subglottic bar, congenital heart disease and low stature" RELATED [GAR synonym: "subglottic web" RELATED [OMIM:150360] xref: GARD:16596 {source="Orphanet:2374"} xref: ICD10CM:Q31.0 {source="Orphanet:2374", source="Orphanet:2374/e", source="Orphanet:2374/specific"} +xref: icd11.foundation:1641764672 {source="MONDO:equivalentTo"} xref: MedDRA:10023871 {source="Orphanet:2374", source="Orphanet:2374/e"} xref: MESH:C537676 {source="MONDO:equivalentTo"} xref: MESH:C563636 {source="MONDO:equivalentTo"} @@ -152079,6 +153258,7 @@ synonym: "Reed syndrome" EXACT [Orphanet:523] synonym: "Reed's syndrome" RELATED [GARD:0010096] xref: GARD:10096 {source="Orphanet:523"} xref: ICD10CM:C64 {source="Orphanet:523/attributed", source="Orphanet:523/ntbt", source="Orphanet:523"} +xref: icd11.foundation:754002573 {source="MONDO:equivalentTo"} xref: MESH:C535516 {source="MONDO:equivalentTo"} xref: NCIT:C51302 {source="MONDO:equivalentTo"} xref: NORD:1231 {source="MONDO:NORD"} @@ -152155,6 +153335,7 @@ synonym: "multiple congenital anomalies, mental retardation and progressive skel xref: DOID:0111507 {source="MONDO:equivalentTo"} xref: GARD:3223 {source="Orphanet:2658"} xref: ICD10CM:Q87.1 {source="Orphanet:2658", source="Orphanet:2658/attributed", source="Orphanet:2658/ntbt"} +xref: icd11.foundation:1509425242 {source="MONDO:equivalentTo"} xref: MESH:C537115 {source="MONDO:equivalentTo", source="Orphanet:2658", source="Orphanet:2658/e"} xref: OMIM:151050 {source="MONDO:equivalentTo", source="Orphanet:2658", source="Orphanet:2658/e"} xref: Orphanet:2658 {source="OMIM:151050", source="MONDO:equivalentTo"} @@ -152273,6 +153454,7 @@ synonym: "thanatophoric dysplasia, Torrance variant" RELATED [OMIM:151210] xref: DOID:0111508 {source="MONDO:equivalentTo"} xref: GARD:4382 {source="Orphanet:85166"} xref: ICD10CM:Q77.8 {source="Orphanet:85166", source="Orphanet:85166/attributed", source="Orphanet:85166/ntbt"} +xref: icd11.foundation:263213426 {source="MONDO:equivalentTo"} xref: MESH:C563627 {source="MONDO:equivalentTo"} xref: OMIM:151210 {source="Orphanet:85166", source="MONDO:equivalentTo", source="Orphanet:85166/e"} xref: Orphanet:85166 {source="MONDO:equivalentTo", source="OMIM:151210"} @@ -152508,6 +153690,7 @@ synonym: "reverse partial lipodystrophy" EXACT [DOID:0070202] xref: DOID:0070202 {source="MONDO:equivalentTo"} xref: GARD:3126 {source="Orphanet:2348"} xref: ICD10CM:E88.1 {source="Orphanet:2348", source="Orphanet:2348/attributed", source="Orphanet:2348/ntbt"} +xref: icd11.foundation:2068585355 {source="MONDO:equivalentTo"} xref: OMIM:151660 {source="MONDO:equivalentTo", source="Orphanet:2348", source="DOID:0070202", source="Orphanet:2348/e"} xref: Orphanet:2348 {source="MONDO:equivalentTo", source="DOID:0070202", source="OMIM:151660"} xref: SCTID:715439000 {source="MONDO:equivalentTo"} @@ -152680,6 +153863,7 @@ xref: ICD10CM:M32.0 {source="Orphanet:536"} xref: ICD10CM:M32.1 {source="Orphanet:536"} xref: ICD10CM:M32.8 {source="Orphanet:536"} xref: ICD10CM:M32.9 {source="Orphanet:536", source="DOID:9074"} +xref: icd11.foundation:749596428 {source="MONDO:equivalentTo"} xref: icd11.foundation:749596428 {source="Orphanet:536", source="MONDO:equivalentTo"} xref: ICD9:710.0 {source="DOID:9074", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0002690"} xref: MESH:D008180 {source="Orphanet:536", source="DOID:9074", source="MONDO:equivalentTo", source="EFO:0002690"} @@ -152718,6 +153902,7 @@ synonym: "Waldmann disease" EXACT [Orphanet:90362] synonym: "Waldmann's disease" RELATED [GARD:0007873] xref: GARD:7873 {source="Orphanet:90362"} xref: ICD10CM:I89.0 {source="Orphanet:90362/attributed", source="Orphanet:90362/ntbt", source="Orphanet:90362"} +xref: icd11.foundation:52162548 {source="MONDO:equivalentTo"} xref: ICD9:457.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536567 {source="Orphanet:90362", source="Orphanet:90362/e"} xref: NORD:1609 {source="MONDO:NORD"} @@ -152888,6 +154073,7 @@ xref: EFO:1001452 {source="MONDO:equivalentTo"} xref: GARD:184 {source="Orphanet:662"} xref: ICD10CM:L60.5 {source="MONDO:equivalentTo", source="Orphanet:662/ntbt", source="DOID:0050468", source="Orphanet:662"} xref: icd11.foundation:47812081 {source="MONDO:equivalentTo", source="Orphanet:662"} +xref: icd11.foundation:47812081 {source="MONDO:equivalentTo"} xref: ICD9:703.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:757.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10048244 {source="Orphanet:662/e", source="Orphanet:662"} @@ -152980,6 +154166,7 @@ synonym: "Ruvalcaba-Myhre-Smith syndrome" RELATED [OMIM:153480] xref: DOID:0050657 {source="MONDO:equivalentTo"} xref: GARD:5887 {source="Orphanet:109"} xref: ICD10CM:Q87.8 {source="Orphanet:109", source="Orphanet:109/attributed", source="Orphanet:109/ntbt"} +xref: icd11.foundation:357383447 {source="MONDO:equivalentTo"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3939 {source="MONDO:equivalentTo"} xref: NORD:1684 {source="MONDO:NORD"} @@ -153074,6 +154261,7 @@ subset: rare synonym: "macroglossia" RELATED [OMIM:153630] xref: GARD:16599 {source="Orphanet:2430"} xref: ICD10CM:Q38.2 {source="Orphanet:2430", source="Orphanet:2430/attributed", source="Orphanet:2430/ntbt"} +xref: icd11.foundation:423141418 {source="MONDO:equivalentTo"} xref: icd11.foundation:423141418 {source="Orphanet:2430", source="MONDO:equivalentTo"} xref: ICD9:750.15 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:C531735 {source="Orphanet:2430", source="MONDO:equivalentTo", source="Orphanet:2430/e"} @@ -153224,6 +154412,7 @@ synonym: "Mcdca" RELATED [OMIM:153870] synonym: "retinitis pigmentosa 91" EXACT [OMIM:153870, OMIM:genemap2] xref: GARD:9887 {source="Orphanet:251287"} xref: ICD10CM:H35.5 {source="Orphanet:251287/attributed", source="Orphanet:251287/ntbt", source="MONDO:relatedTo", source="Orphanet:251287"} +xref: icd11.foundation:1839503243 {source="MONDO:equivalentTo"} xref: MESH:C537833 {source="MONDO:equivalentTo"} xref: OMIM:153870 {source="Orphanet:251287", source="MONDO:equivalentTo", source="Orphanet:251287/e"} xref: Orphanet:251287 {source="MONDO:equivalentTo", source="OMIM:153870"} @@ -153555,6 +154744,7 @@ xref: GARD:16535 {source="Orphanet:558"} xref: GARD:6975 {source="Orphanet:284963"} xref: ICD10CM:Q87.4 {source="Orphanet:558", source="Orphanet:284963/attributed", source="Orphanet:284963/ntbt", source="Orphanet:558/specific", source="Orphanet:284963", source="Orphanet:558/e", source="DOID:14323"} xref: ICD10CM:Q87.40 {source="DOID:14323"} +xref: icd11.foundation:236564145 {source="MONDO:equivalentTo"} xref: icd11.foundation:236564145 {source="Orphanet:558", source="MONDO:equivalentTo"} xref: ICD9:759.82 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14323"} xref: MedDRA:10026829 {source="Orphanet:558", source="Orphanet:558/e"} @@ -153613,6 +154803,7 @@ synonym: "MRSHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:154780] xref: DOID:0111510 {source="MONDO:equivalentTo"} xref: GARD:6984 {source="Orphanet:560"} xref: ICD10CM:Q87.0 {source="Orphanet:560", source="Orphanet:560/attributed", source="Orphanet:560/ntbt"} +xref: icd11.foundation:1401051186 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536025 {source="Orphanet:560/e", source="MONDO:equivalentTo", source="Orphanet:560"} xref: NCIT:C128115 {source="MONDO:equivalentTo"} @@ -153651,6 +154842,7 @@ xref: ICD10CM:C96.2 {source="Orphanet:98292", source="Orphanet:98292/btnt"} xref: ICD10CM:D47.0 {source="Orphanet:98292", source="Orphanet:98292/btnt"} xref: ICD10CM:Q82.2 {source="DOID:350", source="Orphanet:98292", source="Orphanet:98292/btnt"} xref: ICD10WHO:Q82.2 {source="MONDO:equivalentTo"} +xref: icd11.foundation:691643472 {source="MONDO:equivalentTo"} xref: icd11.foundation:691643472 {source="MONDO:equivalentTo", source="Orphanet:98292"} xref: MedDRA:10026891 {source="Orphanet:98292", source="Orphanet:98292/e"} xref: MESH:D008415 {source="MONDO:equivalentTo", source="DOID:350", source="Orphanet:98292", source="Orphanet:98292/e"} @@ -153737,6 +154929,7 @@ synonym: "persistent vitelline duct" EXACT [DOID:9487] xref: DOID:9487 {source="MONDO:equivalentTo", source="EFO:1001036"} xref: EFO:1001036 {source="MONDO:equivalentTo"} xref: ICD10CM:Q43.0 {source="EFO:1001036", source="DOID:9487"} +xref: icd11.foundation:216192536 {source="MONDO:equivalentTo"} xref: ICD9:751.0 {source="MONDO:equivalentTo", source="EFO:1001036", source="MONDO:i2s", source="DOID:9487"} xref: MedDRA:10027055 {source="EFO:1001036"} xref: MESH:D008467 {source="MONDO:equivalentTo", source="EFO:1001036", source="DOID:9487"} @@ -153770,6 +154963,7 @@ synonym: "median cleft of upper lip with polyps of facial skin and nasal mucosa" synonym: "Pai syndrome" EXACT [GARD:0003439, OMIM:155145] xref: GARD:3439 {source="Orphanet:1993"} xref: ICD10CM:Q87.8 {source="Orphanet:1993/attributed", source="Orphanet:1993/ntbt", source="Orphanet:1993"} +xref: icd11.foundation:1236130516 {source="MONDO:equivalentTo"} xref: MESH:C536135 {source="MONDO:equivalentTo"} xref: OMIM:155145 {source="Orphanet:1993", source="MONDO:equivalentTo", source="GARD:0003439", source="Orphanet:1993/e"} xref: Orphanet:1993 {source="MONDO:equivalentTo", source="GARD:0003439", source="OMIM:155145"} @@ -154106,6 +155300,7 @@ synonym: "melorheostosis, isolated, somatic mosaic" EXACT [OMIM:155950, OMIM:gen xref: DOID:4253 {source="MONDO:equivalentTo"} xref: GARD:9474 {source="Orphanet:2485"} xref: ICD10CM:M85.8 {source="Orphanet:2485", source="Orphanet:2485/index", source="Orphanet:2485/ntbt"} +xref: icd11.foundation:312433776 {source="MONDO:equivalentTo"} xref: ICD9:756.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10050284 {source="Orphanet:2485", source="Orphanet:2485/e"} xref: MESH:D008557 {source="Orphanet:2485", source="MONDO:equivalentTo", source="Orphanet:2485/e", source="DOID:4253"} @@ -154136,6 +155331,7 @@ synonym: "Gonzales-del Angel syndrome" EXACT [Orphanet:3034] synonym: "membranous cranial ossification, delayed" RELATED [OMIM:155980] xref: GARD:1727 {source="Orphanet:3034"} xref: ICD10CM:Q75.8 {source="Orphanet:3034", source="Orphanet:3034/attributed", source="Orphanet:3034/ntbt"} +xref: icd11.foundation:766852360 {source="MONDO:equivalentTo"} xref: MESH:C563592 {source="MONDO:equivalentTo"} xref: OMIM:155980 {source="Orphanet:3034", source="MONDO:equivalentTo", source="Orphanet:3034/e"} xref: Orphanet:3034 {source="MONDO:equivalentTo", source="OMIM:155980"} @@ -154159,6 +155355,7 @@ xref: DOID:9849 {source="EFO:0006862", source="MONDO:equivalentTo"} xref: EFO:0006862 {source="MONDO:equivalentTo"} xref: ICD10CM:H81.0 {source="DOID:9849"} xref: ICD10CM:H81.09 {source="DOID:9849"} +xref: icd11.foundation:683932278 {source="MONDO:equivalentTo"} xref: ICD9:386.0 {source="DOID:9849"} xref: ICD9:386.00 {source="DOID:9849", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D008575 {source="EFO:0006862", source="DOID:9849", source="MONDO:equivalentTo"} @@ -154292,6 +155489,7 @@ synonym: "METCDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:156250] xref: DOID:0111512 {source="MONDO:equivalentTo"} xref: GARD:3560 {source="Orphanet:2499"} xref: ICD10CM:Q78.4 {source="Orphanet:2499/attributed", source="Orphanet:2499/ntbt", source="Orphanet:2499"} +xref: icd11.foundation:1342578560 {source="MONDO:equivalentTo"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562938 {source="MONDO:equivalentTo"} xref: OMIM:156250 {source="Orphanet:2499", source="MONDO:equivalentTo", source="Orphanet:2499/e"} @@ -154352,6 +155550,7 @@ synonym: "murk Jansen type metaphyseal chondrodysplasia" EXACT [DOID:0080020, GA xref: DOID:0080020 {source="MONDO:equivalentTo"} xref: GARD:79 {source="Orphanet:33067"} xref: ICD10CM:Q78.5 {source="Orphanet:33067/attributed", source="Orphanet:33067/ntbt", source="Orphanet:33067"} +xref: icd11.foundation:1652660420 {source="MONDO:equivalentTo"} xref: MESH:C537564 {source="Orphanet:33067/e", source="MONDO:equivalentTo", source="Orphanet:33067"} xref: NCIT:C131868 {source="MONDO:equivalentTo"} xref: NORD:1307 {source="MONDO:NORD"} @@ -154487,6 +155686,7 @@ synonym: "Kniest dysplasia" EXACT [OMIM:156550] xref: DOID:0080045 {source="MONDO:equivalentTo"} xref: GARD:6841 {source="Orphanet:485"} xref: ICD10CM:Q77.7 {source="Orphanet:485/attributed", source="Orphanet:485/ntbt", source="Orphanet:485"} +xref: icd11.foundation:2088691719 {source="MONDO:equivalentTo"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537207 {source="Orphanet:485/e", source="MONDO:equivalentTo", source="Orphanet:485"} xref: NCIT:C125594 {source="MONDO:equivalentTo"} @@ -154525,6 +155725,7 @@ synonym: "microcephaly, autosomal dominant" RELATED [OMIM:156580] xref: DOID:14725 {source="MONDO:equivalentTo"} xref: GARD:3605 {source="Orphanet:2514"} xref: ICD10CM:Q02 {source="Orphanet:2514", source="Orphanet:2514/attributed", source="Orphanet:2514/ntbt"} +xref: icd11.foundation:774437947 {source="MONDO:equivalentTo"} xref: MESH:C537323 {source="DOID:14725", source="MONDO:equivalentTo", source="Orphanet:2514", source="Orphanet:2514/e"} xref: OMIM:156580 {source="DOID:14725", source="MONDO:equivalentTo", source="Orphanet:2514", source="Orphanet:2514/e"} xref: Orphanet:2514 {source="OMIM:156580", source="MONDO:equivalentTo"} @@ -155015,6 +156216,7 @@ synonym: "nodose hair" RELATED [GARD:0000093] xref: DOID:0050472 {source="MONDO:equivalentTo"} xref: GARD:93 {source="Orphanet:573"} xref: ICD10CM:Q84.1 {source="Orphanet:573/ntbt", source="Orphanet:573/inclusion", source="Orphanet:573", source="DOID:0050472"} +xref: icd11.foundation:415074833 {source="MONDO:equivalentTo"} xref: MESH:D056734 {source="Orphanet:573/e", source="MONDO:equivalentTo", source="Orphanet:573", source="DOID:0050472"} xref: NCIT:C84894 {source="MONDO:equivalentTo", source="DOID:0050472"} xref: NORD:1454 {source="MONDO:NORD"} @@ -155123,6 +156325,7 @@ synonym: "travel sickness" EXACT [DOID:2951, NCIT:C34824] xref: DOID:2951 {source="MONDO:equivalentTo"} xref: EFO:0006928 {source="MONDO:equivalentTo"} xref: ICD10CM:T75.3 {source="MONDO:equivalentTo", source="DOID:2951"} +xref: icd11.foundation:1078108554 {source="MONDO:equivalentTo"} xref: ICD9:994.6 {source="DOID:2951"} xref: MESH:D009041 {source="MONDO:equivalentTo", source="DOID:2951"} xref: NCIT:C34824 {source="MONDO:otherHierarchy", source="DOID:2951"} @@ -155179,6 +156382,7 @@ synonym: "HMD" EXACT ABBREVIATION [OMIM:158310] synonym: "mucoepithelial dysplasia, hereditary" EXACT [OMIM:158310] synonym: "Urban-Schosser-Spohn syndrome" EXACT [Orphanet:1839] xref: GARD:5427 {source="Orphanet:1839"} +xref: icd11.foundation:1167609602 {source="MONDO:equivalentTo"} xref: ICD9:478.79 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536476 {source="MONDO:equivalentTo"} xref: OMIM:158310 {source="Orphanet:1839/e", source="MONDO:equivalentTo", source="Orphanet:1839"} @@ -155206,6 +156410,7 @@ synonym: "multiple keratoacanthoma, Muir-Torre type" EXACT [Orphanet:587] xref: DOID:0050465 {source="MONDO:equivalentTo"} xref: GARD:6821 {source="Orphanet:587"} xref: ICD10CM:L72.8 {source="Orphanet:587", source="Orphanet:587/attributed", source="Orphanet:587/ntbt"} +xref: icd11.foundation:229304403 {source="MONDO:equivalentTo"} xref: MedDRA:10063042 {source="Orphanet:587", source="Orphanet:587/e"} xref: MESH:D055653 {source="Orphanet:587", source="DOID:0050465", source="MONDO:equivalentTo", source="Orphanet:587/e"} xref: NCIT:C84905 {source="DOID:0050465", source="MONDO:equivalentTo"} @@ -155458,6 +156663,7 @@ synonym: "BTHLM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:158810] xref: DOID:0050663 {source="MONDO:equivalentTo"} xref: GARD:873 {source="Orphanet:610"} xref: ICD10CM:G71.0 {source="Orphanet:610", source="Orphanet:610/attributed", source="Orphanet:610/ntbt"} +xref: icd11.foundation:72734329 {source="MONDO:equivalentTo"} xref: MESH:C535436 {source="Orphanet:610", source="MONDO:equivalentTo", source="Orphanet:610/e"} xref: NCIT:C126688 {source="MONDO:equivalentTo"} xref: OMIMPS:158810 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} @@ -155829,6 +157035,7 @@ subset: rare synonym: "myoglobinuria, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:160010] xref: GARD:16917 {source="Orphanet:99846"} xref: ICD10CM:R82.1 {source="Orphanet:99846", source="Orphanet:99846/attributed", source="Orphanet:99846/ntbt"} +xref: icd11.foundation:149859272 {source="MONDO:equivalentTo"} xref: MESH:C563546 {source="MONDO:equivalentTo"} xref: OMIM:160010 {source="MONDO:equivalentTo", source="Orphanet:99846", source="Orphanet:99846/e"} xref: Orphanet:99846 {source="MONDO:equivalentTo", source="OMIM:160010"} @@ -156046,6 +157253,7 @@ xref: DOID:14203 {source="MONDO:equivalentTo", source="EFO:0000557"} xref: EFO:0000557 {source="MONDO:equivalentTo"} xref: GARD:6805 {source="Orphanet:93672"} xref: ICD10CM:M33.0 {source="Orphanet:93672", source="Orphanet:93672/e"} +xref: icd11.foundation:1428089375 {source="MONDO:equivalentTo"} xref: icd11.foundation:1428089375 {source="Orphanet:93672", source="MONDO:equivalentTo"} xref: MedDRA:10008521 {source="Orphanet:93672", source="Orphanet:93672/e"} xref: MESH:C000598745 {source="MONDO:equivalentObsolete"} @@ -156118,6 +157326,7 @@ xref: DOID:11722 {source="MONDO:equivalentTo"} xref: GARD:8310 {source="Orphanet:273"} xref: ICD10CM:G71.1 {source="Orphanet:273/inclusion", source="Orphanet:273/ntbt", source="Orphanet:273"} xref: ICD10CM:G71.11 {source="DOID:11722"} +xref: icd11.foundation:557405480 {source="MONDO:equivalentTo"} xref: ICD9:359.21 {source="DOID:11722"} xref: MESH:C538008 {source="Orphanet:273/e", source="Orphanet:273"} xref: MESH:D009223 {source="DOID:11722"} @@ -156179,6 +157388,7 @@ synonym: "myotonic myopathy with cylindrical spirals" RELATED [OMIM:160990] xref: DOID:0080103 {source="MONDO:equivalentTo"} xref: GARD:11906 {source="Orphanet:171886"} xref: ICD10CM:G71.2 {source="Orphanet:171886/attributed", source="Orphanet:171886/ntbt", source="Orphanet:171886"} +xref: icd11.foundation:1555346098 {source="MONDO:equivalentTo"} xref: MESH:C563535 {source="MONDO:equivalentTo"} xref: OMIM:160990 {source="DOID:0080103", source="MONDO:equivalentTo"} xref: Orphanet:171886 {source="MONDO:equivalentTo"} @@ -156207,6 +157417,7 @@ synonym: "reticular skin changes, dental anomalies, decreased function of sweat xref: DOID:0111528 {source="MONDO:equivalentTo"} xref: GARD:3912 {source="Orphanet:69087"} xref: ICD10CM:Q82.4 {source="Orphanet:69087", source="Orphanet:69087/attributed", source="Orphanet:69087/ntbt"} +xref: icd11.foundation:352035640 {source="MONDO:equivalentTo"} xref: MESH:C538331 {source="MONDO:equivalentTo"} xref: OMIM:161000 {source="MONDO:equivalentTo", source="Orphanet:69087", source="Orphanet:69087/e"} xref: Orphanet:69087 {source="MONDO:equivalentTo", source="OMIM:161000"} @@ -156297,6 +157508,7 @@ xref: DOID:9467 {source="MONDO:equivalentTo"} xref: GARD:7160 {source="Orphanet:2614"} xref: ICD10CM:Q87.2 {source="Orphanet:2614/inclusion", source="Orphanet:2614", source="Orphanet:2614/ntbt", source="DOID:9467"} xref: icd11.foundation:1121867410 {source="MONDO:equivalentTo", source="Orphanet:2614"} +xref: icd11.foundation:1121867410 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10063431 {source="Orphanet:2614", source="Orphanet:2614/e"} xref: MESH:D009261 {source="MONDO:equivalentTo", source="Orphanet:2614", source="DOID:9467", source="Orphanet:2614/e"} @@ -156490,6 +157702,7 @@ synonym: "renal failure, progressive, with hypertension" RELATED [MONDO:Lexical, synonym: "RFH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:161900] xref: GARD:16772 {source="Orphanet:88659"} xref: ICD10CM:I15.1 {source="Orphanet:88659", source="Orphanet:88659/attributed", source="Orphanet:88659/ntbt"} +xref: icd11.foundation:1997246041 {source="MONDO:equivalentTo"} xref: ICD9:583.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562889 {source="MONDO:equivalentTo"} xref: OMIM:161900 {source="MONDO:equivalentTo", source="Orphanet:88659", source="Orphanet:88659/e"} @@ -156787,6 +158000,7 @@ xref: DOID:10016 {source="MONDO:equivalentTo"} xref: GARD:10225 {source="Orphanet:247709"} xref: ICD10CM:D44.8 {source="Orphanet:247709/attributed", source="Orphanet:247709/ntbt", source="Orphanet:247709"} xref: ICD10CM:E31.23 {source="DOID:10016"} +xref: icd11.foundation:1754393919 {source="MONDO:equivalentTo"} xref: ICD9:237.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:258.03 {source="DOID:10016", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10056420 {source="Orphanet:247709/e", source="Orphanet:247709"} @@ -156924,6 +158138,7 @@ xref: DECIPHER:31 {source="MONDO:equivalentTo"} xref: DOID:0060843 {source="MONDO:equivalentTo"} xref: GARD:5221 {source="Orphanet:640"} xref: ICD10CM:G60.0 {source="Orphanet:640/attributed", source="Orphanet:640/ntbt", source="DOID:0060843", source="Orphanet:640"} +xref: icd11.foundation:2126843932 {source="MONDO:equivalentTo"} xref: MedDRA:10069382 {source="Orphanet:640/e", source="Orphanet:640"} xref: MESH:C536965 {source="MONDO:equivalentTo"} xref: OMIM:162500 {source="Orphanet:640/e", source="MONDO:equivalentTo", source="DOID:0060843", source="Orphanet:640"} @@ -157215,6 +158430,7 @@ synonym: "Nievergelt syndrome" EXACT [OMIM:163400, Orphanet:2633] synonym: "radioulnar synostosis and a typical rhomboid shape of the tibia and fibula" RELATED [GARD:0003554] xref: GARD:3554 {source="Orphanet:2633"} xref: ICD10CM:Q78.8 {source="Orphanet:2633", source="Orphanet:2633/attributed", source="Orphanet:2633/ntbt"} +xref: icd11.foundation:2034257092 {source="MONDO:equivalentTo"} xref: MESH:C536120 {source="MONDO:equivalentTo"} xref: OMIM:163400 {source="MONDO:equivalentTo", source="Orphanet:2633", source="Orphanet:2633/e"} xref: Orphanet:2633 {source="MONDO:equivalentTo", source="OMIM:163400"} @@ -157549,6 +158765,7 @@ synonym: "OCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:164230] xref: DOID:10933 {source="MONDO:equivalentTo", source="EFO:0004242"} xref: EFO:0004242 {source="MONDO:equivalentTo"} xref: ICD10CM:F42 {source="DOID:10933", source="MONDO:equivalentTo"} +xref: icd11.foundation:1582741816 {source="MONDO:equivalentTo"} xref: ICD9:300.3 {source="DOID:10933", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D009771 {source="DOID:10933", source="MONDO:equivalentTo", source="EFO:0004242"} xref: NCIT:C88411 {source="DOID:10933", source="MONDO:equivalentTo"} @@ -157630,6 +158847,7 @@ synonym: "OPMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:164300, Orphanet:270] xref: DOID:11719 {source="MONDO:equivalentTo"} xref: GARD:7245 {source="Orphanet:270"} xref: ICD10CM:G71.0 {source="Orphanet:270/inclusion", source="Orphanet:270", source="DOID:11719", source="Orphanet:270/ntbt"} +xref: icd11.foundation:1354386293 {source="MONDO:equivalentTo"} xref: MedDRA:10052181 {source="Orphanet:270", source="Orphanet:270/e"} xref: MESH:D039141 {source="MONDO:equivalentTo", source="Orphanet:270", source="DOID:11719", source="Orphanet:270/e"} xref: NORD:1523 {source="MONDO:NORD"} @@ -157701,6 +158919,7 @@ synonym: "spinocerebellar atrophy 1" RELATED [OMIM:164400] xref: DOID:0050954 {source="MONDO:equivalentTo"} xref: GARD:4071 {source="Orphanet:98755"} xref: ICD10CM:G11.8 {source="Orphanet:98755/attributed", source="Orphanet:98755/ntbt", source="Orphanet:98755"} +xref: icd11.foundation:2071487961 {source="MONDO:equivalentTo"} xref: NCIT:C129982 {source="MONDO:equivalentTo"} xref: OMIM:164400 {source="Orphanet:98755", source="MONDO:equivalentTo", source="DOID:0050954", source="Orphanet:98755/e"} xref: Orphanet:98755 {source="MONDO:equivalentTo", source="OMIM:164400"} @@ -157753,6 +158972,7 @@ synonym: "omodysplasia, autosomal dominant" EXACT [MONDO:patterns/autosomal_domi xref: DOID:0080845 {source="MONDO:equivalentTo"} xref: GARD:3643 {source="Orphanet:93328"} xref: ICD10CM:Q78.8 {source="Orphanet:93328", source="Orphanet:93328/attributed", source="Orphanet:93328/ntbt"} +xref: icd11.foundation:1237796148 {source="MONDO:equivalentTo"} xref: MESH:C567664 {source="MONDO:equivalentTo"} xref: OMIM:164745 {source="Orphanet:93328/e", source="MONDO:equivalentTo", source="Orphanet:93328"} xref: Orphanet:2733 {source="OMIM:164745"} @@ -157828,6 +159048,7 @@ synonym: "ophthalmomandibulomelic dysplasia" EXACT [OMIM:164900] synonym: "Pillay syndrome" EXACT [Orphanet:2741] xref: GARD:4365 {source="Orphanet:2741"} xref: ICD10CM:Q87.8 {source="Orphanet:2741/attributed", source="Orphanet:2741/ntbt", source="Orphanet:2741"} +xref: icd11.foundation:869046719 {source="MONDO:equivalentTo"} xref: MESH:C563501 {source="MONDO:equivalentTo"} xref: OMIM:164900 {source="Orphanet:2741", source="MONDO:equivalentTo", source="Orphanet:2741/e"} xref: Orphanet:2741 {source="OMIM:164900", source="MONDO:equivalentTo"} @@ -158003,6 +159224,7 @@ xref: DOID:0111531 {source="MONDO:equivalentTo"} xref: GARD:8419 {source="Orphanet:137902"} xref: ICD10CM:H47.0 {source="Orphanet:137902", source="Orphanet:137902/attributed", source="Orphanet:137902/ntbt"} xref: icd11.foundation:609162974 {source="Orphanet:637061", source="MONDO:equivalentTo"} +xref: icd11.foundation:609162974 {source="MONDO:equivalentTo"} xref: NORD:1528 {source="MONDO:NORD"} xref: OMIM:165550 {source="MONDO:equivalentTo", source="Orphanet:137902", source="Orphanet:137902/e"} xref: Orphanet:137902 {source="MONDO:equivalentObsolete", source="OMIM:165550"} @@ -158142,6 +159364,7 @@ synonym: "Thiemann epiphyseal disease" RELATED [OMIM:165700] synonym: "Thiemann's disease" RELATED [GARD:0004131] xref: GARD:4131 {source="Orphanet:3314"} xref: ICD10CM:M93.2 {source="Orphanet:3314/attributed", source="Orphanet:3314/ntbt", source="Orphanet:3314"} +xref: icd11.foundation:67016273 {source="MONDO:equivalentTo"} xref: ICD9:716.84 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537144 {source="MONDO:equivalentTo"} xref: OMIM:165700 {source="Orphanet:3314", source="MONDO:equivalentTo", source="Orphanet:3314/e"} @@ -158260,6 +159483,7 @@ synonym: "Van der Hoeve syndrome" EXACT [Orphanet:216796] xref: DOID:0110334 {source="MONDO:equivalentTo"} xref: GARD:8694 {source="Orphanet:216796"} xref: ICD10CM:Q78.0 {source="Orphanet:216796/attributed", source="Orphanet:216796/ntbt", source="DOID:0110334", source="Orphanet:216796"} +xref: icd11.foundation:1897905410 {source="MONDO:equivalentTo"} xref: NCIT:C99003 {source="MONDO:equivalentTo"} xref: OMIM:166200 {source="Orphanet:216796/e", source="MONDO:equivalentTo", source="DOID:0110334", source="Orphanet:216796"} xref: Orphanet:216796 {source="MONDO:equivalentTo", source="OMIM:166200", source="DOID:0110334"} @@ -158297,6 +159521,7 @@ synonym: "Vrolik type of osteogenesis imperfecta" EXACT [DOID:0110341, OMIM:1662 xref: DOID:0110341 {source="MONDO:equivalentTo"} xref: GARD:10142 {source="Orphanet:216804"} xref: ICD10CM:Q78.0 {source="Orphanet:216804", source="DOID:0110341", source="Orphanet:216804/attributed", source="Orphanet:216804/ntbt"} +xref: icd11.foundation:2024049157 {source="MONDO:equivalentTo"} xref: MESH:C536042 {source="MONDO:equivalentTo"} xref: NCIT:C99001 {source="MONDO:equivalentTo"} xref: OMIM:166210 {source="MONDO:equivalentTo", source="Orphanet:216804", source="DOID:0110341", source="Orphanet:216804/e"} @@ -158330,6 +159555,7 @@ synonym: "osteogenesis imperfecta, type IV" RELATED [OMIM:166220] xref: DOID:0110340 {source="MONDO:equivalentTo"} xref: GARD:8696 {source="Orphanet:216820"} xref: ICD10CM:Q78.0 {source="Orphanet:216820", source="Orphanet:216820/attributed", source="Orphanet:216820/ntbt", source="DOID:0110340"} +xref: icd11.foundation:829297901 {source="MONDO:equivalentTo"} xref: MESH:C536045 {source="Orphanet:216820", source="MONDO:equivalentTo", source="Orphanet:216820/e"} xref: NCIT:C98576 {source="MONDO:equivalentTo"} xref: OMIM:166220 {source="Orphanet:216820", source="MONDO:equivalentTo", source="Orphanet:216820/e", source="DOID:0110340"} @@ -158402,6 +159628,7 @@ synonym: "osteogenesis imperfecta Levin type" RELATED [GARD:0008698] synonym: "osteogenesis imperfecta with unusual skeletal lesions" RELATED [OMIM:166260] xref: DOID:0111533 {source="MONDO:equivalentTo"} xref: GARD:8698 {source="Orphanet:53697"} +xref: icd11.foundation:1984860886 {source="MONDO:equivalentTo"} xref: MESH:C536039 {source="MONDO:equivalentTo"} xref: OMIM:166260 {source="Orphanet:53697", source="MONDO:equivalentTo", source="Orphanet:53697/e"} xref: Orphanet:53697 {source="OMIM:166260", source="MONDO:equivalentTo"} @@ -158463,6 +159690,7 @@ xref: DOID:0111535 {source="MONDO:equivalentTo"} xref: GARD:109 {source="Orphanet:2762"} xref: ICD10CM:M61.5 {source="Orphanet:2762", source="Orphanet:2762/attributed", source="Orphanet:2762/ntbt"} xref: icd11.foundation:1107209347 {source="Orphanet:2762", source="MONDO:equivalentTo"} +xref: icd11.foundation:1107209347 {source="MONDO:equivalentTo"} xref: MedDRA:10048902 {source="Orphanet:2762", source="Orphanet:2762/e"} xref: MESH:C562735 {source="MONDO:equivalentTo"} xref: NORD:1618 {source="MONDO:NORD"} @@ -158503,6 +159731,7 @@ synonym: "axial osteosclerosis" EXACT [OMIM:166450, Orphanet:2777] synonym: "osteomesopyknosis" EXACT [OMIM:166450] xref: GARD:391 {source="Orphanet:2777"} xref: ICD10CM:Q78.2 {source="Orphanet:2777", source="Orphanet:2777/attributed", source="Orphanet:2777/ntbt"} +xref: icd11.foundation:455371627 {source="MONDO:equivalentTo"} xref: MESH:C537792 {source="MONDO:equivalentTo"} xref: OMIM:166450 {source="MONDO:equivalentTo", source="Orphanet:2777", source="Orphanet:2777/e"} xref: Orphanet:2777 {source="OMIM:166450", source="MONDO:equivalentTo"} @@ -158573,6 +159802,7 @@ synonym: "osteopoikilosis, isolated" RELATED [OMIM:166700] xref: DOID:0111536 {source="MONDO:equivalentTo"} xref: GARD:1044 {source="Orphanet:1306"} xref: ICD10CM:Q78.8 {source="Orphanet:1306/attributed", source="Orphanet:1306/ntbt", source="Orphanet:1306"} +xref: icd11.foundation:1556522143 {source="MONDO:equivalentTo"} xref: MESH:C537415 {source="Orphanet:1306/e", source="MONDO:equivalentTo", source="Orphanet:1306"} xref: OMIM:166700 {source="Orphanet:1306/e", source="MONDO:equivalentTo", source="Orphanet:1306"} xref: Orphanet:1306 {source="MONDO:equivalentTo", source="OMIM:166700"} @@ -158622,6 +159852,7 @@ subset: rare synonym: "bone mineral density quantitative trait locus" RELATED [OMIM:166710] synonym: "osteoporosis, postmenopausal" RELATED [OMIM:166710] xref: EFO:0003854 {source="MONDO:equivalentTo"} +xref: icd11.foundation:123797893 {source="MONDO:equivalentTo"} xref: MESH:D015663 {source="EFO:0003854", source="MONDO:equivalentTo"} xref: SCTID:102447009 {source="EFO:0003854", source="MONDO:equivalentTo"} xref: UMLS:C0029456 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:166710"} @@ -158751,6 +159982,7 @@ synonym: "sao" EXACT [Orphanet:98868] synonym: "stomatocytic elliptocytosis" EXACT [Orphanet:98868] xref: GARD:16867 {source="Orphanet:98868"} xref: ICD10CM:D58.1 {source="Orphanet:98868", source="Orphanet:98868/attributed", source="Orphanet:98868/ntbt"} +xref: icd11.foundation:835618545 {source="MONDO:equivalentTo"} xref: ICD9:282.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: OMIM:166900 {source="MONDO:equivalentTo", source="Orphanet:98868", source="Orphanet:98868/e"} xref: Orphanet:288 {source="OMIM:166900"} @@ -158787,6 +160019,7 @@ synonym: "ovarian dermoid cyst" EXACT [DOID:5117, NCIT:C3856] synonym: "ovary dermoid cyst" EXACT [MONDO:patterns/location] synonym: "teratoma, ovarian" RELATED [OMIM:166950] xref: DOID:5117 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1067463359 {source="MONDO:equivalentTo"} xref: MESH:C562731 {source="DOID:5117", source="MONDO:equivalentTo"} xref: NCIT:C3856 {source="DOID:5117", source="MONDO:equivalentTo"} xref: OMIM:166950 {source="DOID:5117", source="MONDO:equivalentTo"} @@ -158819,6 +160052,7 @@ xref: GARD:21375 {source="Orphanet:314473"} xref: HP:0010618 {source="MONDO:otherHierarchy"} xref: ICD10CM:D27 {source="Orphanet:314473/ntbt", source="Orphanet:314473"} xref: icd11.foundation:871413134 {source="MONDO:equivalentTo", source="Orphanet:314473"} +xref: icd11.foundation:871413134 {source="MONDO:equivalentTo"} xref: MedDRA:10064257 {source="Orphanet:314473/e", source="Orphanet:314473"} xref: MESH:C562391 {source="MONDO:equivalentTo"} xref: NCIT:C3498 {source="MONDO:equivalentTo"} @@ -159015,6 +160249,7 @@ synonym: "pacman dysplasia" EXACT [OMIM:167220] synonym: "Pacman syndrome" RELATED [GARD:0004189] xref: GARD:4189 {source="Orphanet:1952"} xref: ICD10CM:Q77.8 {source="Orphanet:1952", source="Orphanet:1952/attributed", source="Orphanet:1952/ntbt"} +xref: icd11.foundation:519938437 {source="MONDO:equivalentTo"} xref: MESH:C538095 {source="MONDO:equivalentTo", source="Orphanet:1952", source="Orphanet:1952/e"} xref: OMIM:167220 {source="MONDO:equivalentTo", source="Orphanet:1952", source="Orphanet:1952/e"} xref: Orphanet:1952 {source="OMIM:167220", source="MONDO:equivalentTo"} @@ -159120,6 +160355,7 @@ synonym: "rectal pain, familial" RELATED [OMIM:167400] synonym: "submandibular, ocular, and rectal pain with flushing" RELATED [GARD:0012854] xref: DOID:0111537 {source="MONDO:equivalentTo"} xref: GARD:12854 {source="Orphanet:46348"} +xref: icd11.foundation:9604457 {source="MONDO:equivalentTo"} xref: ICD9:349.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563475 {source="MONDO:equivalentTo"} xref: NCIT:C125385 {source="MONDO:equivalentTo"} @@ -159146,6 +160382,7 @@ synonym: "velopharyngeal insufficiency" RELATED [OMIM:167500] xref: GARD:5470 {source="Orphanet:2291"} xref: ICD10CM:J39.2 {source="Orphanet:2291/attributed", source="Orphanet:2291/ntbt", source="Orphanet:2291"} xref: icd11.foundation:158386351 {source="MONDO:equivalentTo", source="Orphanet:2291"} +xref: icd11.foundation:158386351 {source="MONDO:equivalentTo"} xref: MESH:D014681 {source="MONDO:equivalentTo"} xref: OMIM:167500 {source="Orphanet:2291/e", source="MONDO:equivalentTo", source="Orphanet:2291"} xref: Orphanet:2291 {source="MONDO:equivalentTo", source="OMIM:167500"} @@ -159202,6 +160439,7 @@ synonym: "pancreas, annular" RELATED [OMIM:167750] xref: DOID:0060850 {source="MONDO:equivalentTo"} xref: GARD:705 {source="Orphanet:675"} xref: ICD10CM:Q45.1 {source="Orphanet:675", source="Orphanet:675/attributed", source="Orphanet:675/ntbt", source="DOID:0060850", source="MONDO:equivalentTo"} +xref: icd11.foundation:1311285827 {source="MONDO:equivalentTo"} xref: icd11.foundation:1311285827 {source="Orphanet:675", source="MONDO:equivalentTo"} xref: MedDRA:10071757 {source="Orphanet:675", source="Orphanet:675/e"} xref: MESH:C536376 {source="Orphanet:675", source="DOID:0060850", source="MONDO:equivalentTo", source="Orphanet:675/e"} @@ -159261,6 +160499,7 @@ synonym: "PCTT" RELATED ABBREVIATION [MESH:C537262, MONDO:Lexical, OMIM:167800] xref: GARD:6632 {source="Orphanet:676"} xref: ICD10CM:K86.1 {source="Orphanet:676", source="Orphanet:676/attributed", source="Orphanet:676/ntbt"} xref: icd11.foundation:1287702961 {source="Orphanet:676", source="MONDO:equivalentTo"} +xref: icd11.foundation:1287702961 {source="MONDO:equivalentTo"} xref: ICD9:577.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537262 {source="MONDO:equivalentTo"} xref: NCIT:C95436 {source="MONDO:equivalentTo"} @@ -159478,6 +160717,7 @@ synonym: "Parastremmatic dysplasia" RELATED [GARD:0004222] xref: DOID:0111539 {source="MONDO:equivalentTo"} xref: GARD:4222 {source="Orphanet:2646"} xref: ICD10CM:Q87.1 {source="Orphanet:2646", source="Orphanet:2646/attributed", source="Orphanet:2646/ntbt"} +xref: icd11.foundation:431936114 {source="MONDO:equivalentTo"} xref: MESH:C537172 {source="MONDO:equivalentTo", source="Orphanet:2646", source="Orphanet:2646/e"} xref: OMIM:168400 {source="MONDO:equivalentTo", source="Orphanet:2646", source="Orphanet:2646/e"} xref: Orphanet:2646 {source="MONDO:equivalentTo", source="OMIM:168400"} @@ -159620,6 +160860,7 @@ synonym: "parkinsonism with alveolar hypoventilation and mental depression" EXAC synonym: "Perry syndrome" EXACT [OMIM:168605] xref: DOID:0060486 {source="MONDO:equivalentTo"} xref: GARD:10453 {source="Orphanet:178509"} +xref: icd11.foundation:1441227658 {source="MONDO:equivalentTo"} xref: ICD9:348.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C566822 {source="DOID:0060486", source="MONDO:equivalentTo"} xref: OMIM:168605 {source="DOID:0060486", source="Orphanet:178509/e", source="MONDO:equivalentTo", source="Orphanet:178509"} @@ -159724,6 +160965,7 @@ synonym: "patella, chondromalacia OF" RELATED [OMIM:168900] synonym: "softening of articular cartilage of patella" EXACT [DOID:13357] xref: DOID:13357 {source="MONDO:equivalentTo"} xref: ICD10CM:M22.4 {source="MONDO:equivalentTo", source="Orphanet:1428", source="Orphanet:1428/attributed", source="Orphanet:1428/ntbt", source="DOID:13357"} +xref: icd11.foundation:1589625540 {source="MONDO:equivalentTo"} xref: ICD9:717.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13357"} xref: MESH:D046789 {source="MONDO:equivalentTo", source="DOID:13357"} xref: OMIM:168900 {source="Orphanet:1428/e", source="MONDO:equivalentTo", source="Orphanet:1428", source="DOID:13357"} @@ -159846,6 +161088,7 @@ synonym: "funnel chest" RELATED [OMIM:169300] synonym: "pectus excavatum" EXACT [MONDO:ambiguous, OMIM:169300] synonym: "pectus excavatum (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0000767 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:9248522 {source="MONDO:equivalentTo"} xref: ICD9:754.81 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D005660 {source="MONDO:equivalentTo"} xref: OMIM:169300 {source="MONDO:equivalentTo"} @@ -159867,6 +161110,7 @@ synonym: "Pelger-Huet nuclear anomaly" RELATED [GARD:0009148] synonym: "PHA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:169400] xref: DOID:9631 {source="MONDO:equivalentTo", source="EFO:1001093"} xref: EFO:1001093 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1210390183 {source="MONDO:equivalentTo"} xref: MedDRA:10029377 {source="EFO:1001093"} xref: MESH:D010381 {source="MONDO:equivalentTo", source="EFO:1001093", source="DOID:9631"} xref: NCIT:C85002 {source="MONDO:equivalentTo", source="EFO:1001093", source="DOID:9631"} @@ -159969,6 +161213,7 @@ synonym: "pemphigus, benign familial" EXACT [DOID:0050429, OMIM:169600] xref: DOID:0050429 {source="MONDO:equivalentTo"} xref: GARD:6559 {source="Orphanet:2841"} xref: ICD10CM:Q82.8 {source="Orphanet:2841/ntbt", source="Orphanet:2841/inclusion", source="Orphanet:2841", source="DOID:0050429"} +xref: icd11.foundation:818400628 {source="MONDO:equivalentTo"} xref: MESH:D016506 {source="MONDO:equivalentTo", source="DOID:0050429"} xref: NCIT:C82865 {source="MONDO:equivalentTo", source="DOID:0050429"} xref: NORD:1211 {source="MONDO:NORD"} @@ -160000,6 +161245,7 @@ xref: GARD:4270 {source="OMIM:169610"} xref: GARD:7355 {source="Orphanet:704"} xref: ICD10CM:L10.0 {source="DOID:0060851", source="MONDO:equivalentTo", source="Orphanet:704", source="Orphanet:704/e"} xref: icd11.foundation:278358681 {source="MONDO:equivalentTo", source="Orphanet:704"} +xref: icd11.foundation:278358681 {source="MONDO:equivalentTo"} xref: MedDRA:10052802 {source="Orphanet:704", source="Orphanet:704/e"} xref: MESH:C536645 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: NCIT:C34910 {source="MONDO:equivalentTo", source="EFO:0004719"} @@ -160039,6 +161285,7 @@ synonym: "prolidase deficiency" EXACT CLINGEN_LABEL [OMIM:170100] xref: DOID:0111540 {source="MONDO:equivalentTo"} xref: GARD:7473 {source="Orphanet:742"} xref: ICD10CM:E72.8 {source="Orphanet:742", source="Orphanet:742/attributed", source="Orphanet:742/ntbt"} +xref: icd11.foundation:1416203271 {source="MONDO:equivalentTo"} xref: icd11.foundation:1416203271 {source="Orphanet:742", source="MONDO:equivalentTo"} xref: MESH:D056732 {source="Orphanet:742", source="MONDO:equivalentTo", source="Orphanet:742/e"} xref: NCIT:C85029 {source="MONDO:equivalentTo"} @@ -160413,6 +161660,7 @@ xref: DOID:0050430 {source="MONDO:equivalentTo"} xref: GARD:4881 {source="Orphanet:247698"} xref: ICD10CM:D44.8 {source="Orphanet:247698/attributed", source="Orphanet:247698/ntbt", source="Orphanet:247698"} xref: ICD10CM:E31.22 {source="DOID:0050430"} +xref: icd11.foundation:1689268035 {source="MONDO:equivalentTo"} xref: ICD9:258.02 {source="DOID:0050430"} xref: MESH:D018813 {source="DOID:0050430", source="Orphanet:247698", source="MONDO:equivalentTo", source="Orphanet:247698/e"} xref: NCIT:C3226 {source="DOID:0050430", source="MONDO:equivalentTo"} @@ -160585,6 +161833,7 @@ xref: DOID:3263 {source="MONDO:equivalentTo"} xref: GARD:4344 {source="Orphanet:2884"} xref: ICD10CM:E70.3 {source="Orphanet:2884/ntbt", source="MONDO:relatedTo", source="Orphanet:2884", source="Orphanet:2884/index"} xref: ICD10CM:E70.39 {source="DOID:3263"} +xref: icd11.foundation:2089421143 {source="MONDO:equivalentTo"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016116 {source="Orphanet:2884", source="MONDO:equivalentTo", source="Orphanet:2884/e", source="DOID:3263"} xref: NCIT:C85009 {source="MONDO:equivalentTo", source="DOID:3263"} @@ -160640,6 +161889,7 @@ synonym: "PPRCA" EXACT ABBREVIATION [Orphanet:251295] xref: DOID:0111541 {source="MONDO:equivalentTo"} xref: GARD:17208 {source="Orphanet:251295"} xref: ICD10CM:H35.5 {source="Orphanet:251295/attributed", source="Orphanet:251295/ntbt", source="Orphanet:251295", source="MONDO:directSiblingOf"} +xref: icd11.foundation:1278139412 {source="MONDO:equivalentTo"} xref: MESH:C566801 {source="MONDO:equivalentTo"} xref: OMIM:172870 {source="Orphanet:251295", source="MONDO:equivalentTo", source="Orphanet:251295/e"} xref: Orphanet:251295 {source="MONDO:equivalentTo", source="OMIM:172870"} @@ -160850,6 +162100,7 @@ synonym: "spontaneous pneumothorax" RELATED [GARD:0004997] xref: DOID:0080218 {source="MONDO:equivalentTo"} xref: GARD:4997 {source="Orphanet:2903"} xref: ICD10CM:J93.1 {source="Orphanet:2903/attributed", source="Orphanet:2903/ntbt", source="Orphanet:2903"} +xref: icd11.foundation:319022944 {source="MONDO:equivalentTo"} xref: MESH:C566795 {source="MONDO:equivalentTo"} xref: OMIM:173600 {source="Orphanet:2903/e", source="MONDO:equivalentTo", source="DOID:0080218", source="Orphanet:2903"} xref: Orphanet:2903 {source="OMIM:173600", source="MONDO:equivalentTo"} @@ -160882,6 +162133,7 @@ synonym: "poikiloderma, hereditary acrokeratotic" RELATED [OMIM:173650] xref: DOID:0060472 {source="MONDO:equivalentTo"} xref: GARD:4391 {source="Orphanet:2908"} xref: ICD10CM:Q81.8 {source="Orphanet:2908", source="Orphanet:2908/attributed", source="Orphanet:2908/ntbt"} +xref: icd11.foundation:726317303 {source="MONDO:equivalentTo"} xref: MESH:C536321 {source="Orphanet:2908", source="DOID:0060472", source="MONDO:equivalentTo", source="Orphanet:2908/e"} xref: OMIM:173650 {source="MONDO:equivalentTo"} xref: Orphanet:2908 {source="MONDO:equivalentTo"} @@ -160902,6 +162154,7 @@ subset: rare synonym: "poikiloderma, hereditary sclerosing" RELATED [OMIM:173700] xref: GARD:17136 {source="Orphanet:221039"} xref: ICD10CM:Q82.8 {source="Orphanet:221039", source="Orphanet:221039/attributed", source="Orphanet:221039/ntbt"} +xref: icd11.foundation:1538273632 {source="MONDO:equivalentTo"} xref: MESH:C562824 {source="MONDO:equivalentTo"} xref: OMIM:173700 {source="MONDO:equivalentTo", source="Orphanet:221039", source="Orphanet:221039/e"} xref: Orphanet:221039 {source="OMIM:173700", source="MONDO:equivalentTo"} @@ -160930,6 +162183,7 @@ xref: DOID:12961 {source="MONDO:equivalentTo"} xref: GARD:7412 {source="Orphanet:2911"} xref: ICD10CM:Q79.8 {source="Orphanet:2911/inclusion", source="Orphanet:2911", source="Orphanet:2911/ntbt", source="DOID:12961"} xref: icd11.foundation:1364451323 {source="MONDO:equivalentTo", source="Orphanet:2911"} +xref: icd11.foundation:1364451323 {source="MONDO:equivalentTo"} xref: ICD9:756.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10036007 {source="Orphanet:2911", source="Orphanet:2911/e"} xref: MESH:D011045 {source="MONDO:equivalentTo", source="Orphanet:2911", source="Orphanet:2911/e", source="DOID:12961"} @@ -161198,6 +162452,7 @@ synonym: "triphalangeal thumb-polydactyly syndrome" RELATED [OMIM:174500] synonym: "triphalangeal thumb-polysyndactyly syndrome" RELATED [OMIM:174500] xref: GARD:5289 {source="Orphanet:93336"} xref: ICD10CM:Q69.1 {source="Orphanet:93336", source="Orphanet:93336/attributed", source="Orphanet:93336/ntbt"} +xref: icd11.foundation:728781925 {source="MONDO:equivalentTo"} xref: OMIM:174500 {source="MONDO:equivalentTo", source="Orphanet:93336", source="Orphanet:93336/ntbt"} xref: Orphanet:2950 {source="MONDO:relatedTo", source="OMIM:174500"} xref: Orphanet:93336 {source="MONDO:equivalentTo", source="OMIM:174500"} @@ -161226,6 +162481,7 @@ synonym: "PPD3" EXACT ABBREVIATION [Orphanet:93337] synonym: "preaxial polydactyly type 3" EXACT [Orphanet:93337] xref: GARD:2256 {source="Orphanet:93337"} xref: ICD10CM:Q69.0 {source="Orphanet:93337", source="Orphanet:93337/attributed", source="Orphanet:93337/ntbt"} +xref: icd11.foundation:982050714 {source="MONDO:equivalentTo"} xref: MESH:C566784 {source="MONDO:equivalentTo"} xref: OMIM:174600 {source="MONDO:equivalentTo", source="Orphanet:93337", source="Orphanet:93337/e"} xref: Orphanet:93337 {source="MONDO:equivalentTo", source="OMIM:174600"} @@ -161295,6 +162551,7 @@ synonym: "juvenile Spring eruption of ears" RELATED [OMIM:174770] synonym: "polymorphic Light eruption, hereditary" RELATED [OMIM:174770] xref: GARD:17510 {source="Orphanet:330061"} xref: ICD10CM:L56.4 {source="Orphanet:330061/ntbt", source="Orphanet:330061"} +xref: icd11.foundation:1528164728 {source="MONDO:equivalentTo"} xref: MESH:C566780 {source="MONDO:equivalentTo"} xref: OMIM:174770 {source="Orphanet:330061/e", source="MONDO:equivalentTo", source="Orphanet:330061"} xref: Orphanet:330061 {source="MONDO:equivalentTo"} @@ -161316,6 +162573,7 @@ synonym: "PFD" EXACT ABBREVIATION [OMIM:174800] synonym: "polyostotic fibrous dysplasia of bone" EXACT [NCIT:C34610] xref: GARD:4213 {source="Orphanet:93276"} xref: ICD10CM:Q78.1 {source="Orphanet:93276", source="Orphanet:93276/attributed", source="Orphanet:93276/ntbt", source="MONDO:equivalentTo"} +xref: icd11.foundation:771587091 {source="MONDO:equivalentTo"} xref: ICD9:756.54 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10036120 {source="Orphanet:93276", source="Orphanet:93276/e"} xref: MESH:D005359 {source="Orphanet:93276", source="MONDO:equivalentTo", source="Orphanet:93276/e", source="https://orcid.org/0000-0002-6601-2165"} @@ -161348,6 +162606,7 @@ synonym: "polyostotic osteolytic dysplasia, hereditary expansile" RELATED [OMIM: xref: DOID:0111542 {source="MONDO:equivalentTo"} xref: GARD:9168 {source="Orphanet:85195"} xref: ICD10CM:M89.5 {source="Orphanet:85195/attributed", source="Orphanet:85195/ntbt", source="Orphanet:85195"} +xref: icd11.foundation:1161028858 {source="MONDO:equivalentTo"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536335 {source="Orphanet:85195/e", source="MONDO:equivalentTo", source="Orphanet:85195"} xref: OMIM:174810 {source="Orphanet:85195/e", source="MONDO:equivalentTo", source="Orphanet:85195"} @@ -161471,6 +162730,7 @@ xref: DOID:3852 {source="MONDO:equivalentTo"} xref: GARD:7378 {source="Orphanet:2869"} xref: ICD10CM:Q85.8 {source="DOID:3852", source="Orphanet:2869/inclusion", source="Orphanet:2869", source="Orphanet:2869/ntbt"} xref: icd11.foundation:969253189 {source="MONDO:equivalentTo", source="Orphanet:2869"} +xref: icd11.foundation:969253189 {source="MONDO:equivalentTo"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10034764 {source="Orphanet:2869/e", source="Orphanet:2869"} xref: MESH:D010580 {source="Orphanet:2869/e", source="DOID:3852", source="MONDO:equivalentTo", source="Orphanet:2869"} @@ -161535,6 +162795,7 @@ xref: DOID:6225 {source="MONDO:equivalentTo"} xref: GARD:4427 {source="Orphanet:2930"} xref: ICD10CM:D12.6 {source="Orphanet:2930", source="Orphanet:2930/ntbt"} xref: icd11.foundation:79007466 {source="MONDO:equivalentTo", source="Orphanet:2930"} +xref: icd11.foundation:79007466 {source="MONDO:equivalentTo"} xref: MedDRA:10062907 {source="Orphanet:2930", source="Orphanet:2930/e"} xref: MESH:D044483 {source="MONDO:equivalentTo"} xref: NCIT:C7035 {source="DOID:6225", source="MONDO:equivalentTo"} @@ -161589,6 +162850,7 @@ synonym: "crossed polydactyly" EXACT [Orphanet:2935] synonym: "polysyndactyly, crossed" RELATED [OMIM:175690] xref: GARD:1617 {source="Orphanet:2935"} xref: ICD10CM:Q70.4 {source="Orphanet:2935", source="Orphanet:2935/attributed", source="Orphanet:2935/ntbt"} +xref: icd11.foundation:1884305247 {source="MONDO:equivalentTo"} xref: MESH:C566773 {source="MONDO:equivalentTo"} xref: OMIM:175690 {source="Orphanet:2935/e", source="MONDO:equivalentTo", source="Orphanet:2935"} xref: Orphanet:2935 {source="OMIM:175690", source="MONDO:equivalentTo"} @@ -161615,6 +162877,7 @@ synonym: "polysyndactyly with peculiars skull shape" EXACT [DOID:14761] xref: DOID:14761 {source="MONDO:equivalentTo"} xref: GARD:6550 {source="Orphanet:380"} xref: ICD10CM:Q87.0 {source="Orphanet:380", source="Orphanet:380/attributed", source="Orphanet:380/ntbt"} +xref: icd11.foundation:606500237 {source="MONDO:equivalentTo"} xref: MedDRA:10053878 {source="Orphanet:380", source="Orphanet:380/e"} xref: MESH:C537300 {source="MONDO:equivalentTo", source="Orphanet:380", source="DOID:14761", source="Orphanet:380/e"} xref: NCIT:C35255 {source="MONDO:equivalentTo", source="DOID:14761"} @@ -161818,6 +163081,7 @@ synonym: "uroporphyrinogen synthase deficiency" RELATED [OMIM:176000] xref: DOID:3890 {source="MONDO:equivalentTo"} xref: GARD:5732 {source="Orphanet:79276"} xref: ICD10CM:E80.2 {source="Orphanet:79276", source="Orphanet:79276/attributed", source="Orphanet:79276/ntbt"} +xref: icd11.foundation:1565229118 {source="MONDO:equivalentTo"} xref: MESH:D017118 {source="Orphanet:79276/e", source="MONDO:equivalentTo", source="Orphanet:79276", source="DOID:3890"} xref: NCIT:C84536 {source="MONDO:equivalentTo", source="DOID:3890"} xref: NORD:729 {source="MONDO:NORD"} @@ -161853,6 +163117,7 @@ synonym: "porphyria cutanea tarda, type 1" RELATED [OMIM:176090] synonym: "porphyria cutanea tarda, type I" RELATED [OMIM:176090] xref: GARD:17749 {source="Orphanet:443057"} xref: ICD10CM:E80.1 {source="Orphanet:443057", source="Orphanet:443057/attributed", source="Orphanet:443057/ntbt"} +xref: icd11.foundation:1813031784 {source="MONDO:equivalentTo"} xref: MESH:C566768 {source="MONDO:equivalentTo"} xref: OMIM:176090 {source="Orphanet:443057", source="MONDO:equivalentTo", source="Orphanet:443057/e"} xref: Orphanet:101330 {source="OMIM:176090"} @@ -161887,6 +163152,7 @@ synonym: "Urod deficiency" RELATED [OMIM:176100] synonym: "uroporphyrinogen decarboxylase deficiency" RELATED [OMIM:176100] xref: GARD:17750 {source="Orphanet:443062"} xref: ICD10CM:E80.1 {source="Orphanet:443062", source="Orphanet:443062/attributed", source="Orphanet:443062/ntbt"} +xref: icd11.foundation:1318287619 {source="MONDO:equivalentTo"} xref: OMIM:176100 {source="Orphanet:443062/e", source="MONDO:equivalentTo", source="Orphanet:443062"} xref: Orphanet:101330 {source="OMIM:176100"} xref: Orphanet:443062 {source="MONDO:equivalentTo"} @@ -161926,6 +163192,7 @@ xref: DOID:4346 {source="MONDO:equivalentTo"} xref: GARD:7848 {source="Orphanet:79473"} xref: ICD10CM:E80.2 {source="Orphanet:79473/attributed", source="Orphanet:79473/ntbt", source="Orphanet:79473"} xref: icd11.foundation:1227474618 {source="MONDO:equivalentTo", source="Orphanet:79473"} +xref: icd11.foundation:1227474618 {source="MONDO:equivalentTo"} xref: MESH:D046350 {source="DOID:4346", source="MONDO:equivalentTo"} xref: NCIT:C85219 {source="DOID:4346", source="MONDO:equivalentTo"} xref: NORD:1821 {source="MONDO:NORD"} @@ -161997,6 +163264,7 @@ synonym: "Willi-Prader syndrome" EXACT [Orphanet:739] xref: DOID:11983 {source="MONDO:equivalentTo"} xref: GARD:5575 {source="Orphanet:739"} xref: ICD10CM:Q87.1 {source="Orphanet:739/inclusion", source="Orphanet:739", source="Orphanet:739/ntbt", source="DOID:11983"} +xref: icd11.foundation:393773440 {source="MONDO:equivalentTo"} xref: icd11.foundation:393773440 {source="MONDO:equivalentTo", source="Orphanet:739"} xref: ICD9:759.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11983"} xref: MedDRA:10036476 {source="Orphanet:739", source="Orphanet:739/e"} @@ -162142,6 +163410,7 @@ synonym: "Scra1" RELATED [OMIM:176450] xref: DOID:0111546 {source="MONDO:equivalentTo"} xref: GARD:1626 {source="Orphanet:1552"} xref: ICD10CM:Q87.8 {source="Orphanet:1552", source="Orphanet:1552/attributed", source="Orphanet:1552/ntbt"} +xref: icd11.foundation:1532133816 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536221 {source="Orphanet:1552", source="MONDO:equivalentTo", source="Orphanet:1552/e"} xref: OMIM:176450 {source="Orphanet:1552", source="MONDO:equivalentTo", source="Orphanet:1552/e"} @@ -162187,6 +163456,7 @@ xref: DOID:0070029 {source="MONDO:equivalentTo"} xref: GARD:8344 {source="Orphanet:97345"} xref: ICD10EXP:E85.4+ {source="Orphanet:97345/attributed", source="Orphanet:97345/ntbt", source="Orphanet:97345"} xref: ICD10EXP:I68.0* {source="Orphanet:97345/attributed", source="Orphanet:97345/ntbt", source="Orphanet:97345"} +xref: icd11.foundation:1037669378 {source="MONDO:equivalentTo"} xref: MESH:C538208 {source="Orphanet:97345", source="MONDO:equivalentTo", source="Orphanet:97345/e"} xref: OMIM:176500 {source="Orphanet:97345", source="MONDO:equivalentTo", source="DOID:0070029", source="Orphanet:97345/e", source="GARD:0008344"} xref: Orphanet:97345 {source="MONDO:equivalentTo", source="GARD:0008344", source="OMIM:176500"} @@ -162463,6 +163733,7 @@ synonym: "Wiedemann's syndrome" EXACT [DOID:13482] xref: DOID:13482 {source="MONDO:equivalentTo"} xref: GARD:7475 {source="Orphanet:744"} xref: ICD10CM:Q87.3 {source="Orphanet:744", source="Orphanet:744/attributed", source="Orphanet:744/ntbt"} +xref: icd11.foundation:760267333 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016715 {source="Orphanet:744", source="DOID:13482", source="MONDO:equivalentTo", source="Orphanet:744/e"} xref: NCIT:C85032 {source="DOID:13482", source="MONDO:equivalentTo"} @@ -162550,6 +163821,7 @@ synonym: "spondyloepiphyseal dysplasia, Pseudoachondroplastic" RELATED [OMIM:177 xref: DOID:0080047 {source="MONDO:equivalentTo"} xref: GARD:4540 {source="Orphanet:750"} xref: ICD10CM:Q77.8 {source="Orphanet:750/attributed", source="Orphanet:750/ntbt", source="Orphanet:750"} +xref: icd11.foundation:1192649257 {source="MONDO:equivalentTo"} xref: icd11.foundation:1192649257 {source="MONDO:equivalentTo", source="Orphanet:750"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535819 {source="Orphanet:750/e", source="MONDO:equivalentTo", source="Orphanet:750"} @@ -162713,6 +163985,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9145/autosom id: MONDO:0008330 name: pseudomonilethrix synonym: "pseudomonilethrix" EXACT [OMIM:177750] +xref: icd11.foundation:207127044 {source="MONDO:equivalentTo"} xref: MESH:C562988 {source="MONDO:equivalentTo"} xref: OMIM:177750 {source="MONDO:equivalentTo"} xref: SCTID:254229006 {source="MONDO:equivalentTo"} @@ -163510,6 +164783,7 @@ synonym: "reticular pigment anomaly of flexures" EXACT [DOID:0060256, Orphanet:7 xref: DOID:0060256 {source="MONDO:equivalentTo"} xref: GARD:9775 {source="Orphanet:79145"} xref: ICD10CM:L81.8 {source="Orphanet:79145/attributed", source="Orphanet:79145/ntbt", source="Orphanet:79145"} +xref: icd11.foundation:15123132 {source="MONDO:equivalentTo"} xref: MedDRA:10068651 {source="Orphanet:79145/e", source="Orphanet:79145"} xref: MESH:C562924 {source="DOID:0060256", source="MONDO:equivalentTo"} xref: Orphanet:79145 {source="DOID:0060256", source="MONDO:equivalentTo", source="OMIM:179850"} @@ -163717,6 +164991,7 @@ xref: DOID:768 {source="MONDO:equivalentTo"} xref: GARD:7563 {source="Orphanet:790"} xref: ICD10CM:C69.2 {source="Orphanet:790/e", source="Orphanet:790/specific", source="Orphanet:790"} xref: icd11.foundation:1855353671 {source="MONDO:equivalentTo", source="Orphanet:790"} +xref: icd11.foundation:1855353671 {source="MONDO:equivalentTo"} xref: ICDO:9510/3 {source="NCIT:C7541"} xref: MedDRA:10038916 {source="Orphanet:790/e", source="Orphanet:790"} xref: MESH:D012175 {source="Orphanet:790/e", source="DOID:768", source="MONDO:equivalentTo", source="Orphanet:790"} @@ -163796,6 +165071,7 @@ xref: DOID:7148 {source="MONDO:equivalentTo", source="EFO:0000685"} xref: EFO:0000685 {source="DOID:7148", source="MONDO:equivalentTo"} xref: HP:0001370 {source="MONDO:otherHierarchy", source="https://orcid.org/0000-0001-9859-8589"} xref: ICD10CM:M06.9 {source="DOID:7148"} +xref: icd11.foundation:576319925 {source="MONDO:equivalentTo"} xref: ICD9:714.0 {source="DOID:7148", source="MONDO:equivalentTo", source="EFO:0000685", source="MONDO:i2s"} xref: MESH:D001172 {source="DOID:7148", source="MONDO:equivalentTo", source="EFO:0000685"} xref: NCIT:C27206 {source="DOID:7148"} @@ -163889,6 +165165,7 @@ synonym: "Ring dermoid syndrome" EXACT [Orphanet:91481] xref: DOID:0111548 {source="MONDO:equivalentTo"} xref: GARD:9696 {source="Orphanet:91481"} xref: ICD10CM:D31.1 {source="Orphanet:91481", source="Orphanet:91481/ntbt"} +xref: icd11.foundation:271430543 {source="MONDO:equivalentTo"} xref: MESH:C535684 {source="Orphanet:91481", source="MONDO:equivalentTo", source="Orphanet:91481/e"} xref: OMIM:180550 {source="Orphanet:91481", source="MONDO:equivalentTo", source="Orphanet:91481/e"} xref: Orphanet:91481 {source="MONDO:equivalentTo", source="OMIM:180550"} @@ -163933,6 +165210,7 @@ synonym: "Robinow syndrome, autosomal dominant" EXACT [MONDO:design_pattern, MON synonym: "Robinow syndrome, autosomal dominant type" EXACT [MONDORULE:1] xref: GARD:16620 {source="Orphanet:3107"} xref: ICD10CM:Q87.1 {source="Orphanet:3107", source="DOID:0060766", source="Orphanet:3107/attributed", source="Orphanet:3107/ntbt"} +xref: icd11.foundation:807338758 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:3107 {source="OMIM:180700", source="MONDO:equivalentTo", source="DOID:0060766"} xref: Orphanet:97360 {source="OMIM:180700", source="DOID:0060766"} @@ -163978,6 +165256,7 @@ synonym: "acrocephalosyndactyly, Robinow-Sorauf type" RELATED [OMIM:180750] synonym: "craniosynostosis-bifid hallux syndrome" RELATED [OMIM:180750] synonym: "Robinow-Sorauf syndrome" EXACT [OMIM:180750] xref: GARD:4730 {source="OMIM:180750"} +xref: icd11.foundation:1272297510 {source="MONDO:equivalentTo"} xref: MESH:C537183 {source="MONDO:equivalentTo"} xref: OMIM:180750 {source="MONDO:equivalentTo"} xref: Orphanet:3106 {source="OMIM:180750", source="MONDO:equivalentObsolete"} @@ -164009,6 +165288,7 @@ synonym: "Roussy-levy syndrome" EXACT [OMIM:180800] synonym: "Roussy-Lévy syndrome" EXACT [Orphanet:3115] xref: GARD:4741 {source="Orphanet:3115"} xref: ICD10CM:G60.0 {source="Orphanet:3115/attributed", source="Orphanet:3115/ntbt", source="Orphanet:3115"} +xref: icd11.foundation:1790389383 {source="MONDO:equivalentTo"} xref: ICD9:334.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NORD:1679 {source="MONDO:NORD"} xref: OMIM:180800 {source="Orphanet:3115", source="MONDO:equivalentTo", source="Orphanet:3115/e"} @@ -164075,6 +165355,7 @@ synonym: "SRS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:180860] xref: DOID:14681 {source="MONDO:equivalentTo"} xref: GARD:4870 {source="Orphanet:813"} xref: ICD10CM:Q87.1 {source="Orphanet:813/inclusion", source="DOID:14681", source="Orphanet:813", source="Orphanet:813/ntbt"} +xref: icd11.foundation:735297495 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10062282 {source="Orphanet:813", source="Orphanet:813/e"} xref: MESH:D056730 {source="DOID:14681", source="MONDO:equivalentTo", source="Orphanet:813", source="Orphanet:813/e"} @@ -164131,6 +165412,7 @@ synonym: "gingival hypertrophy-corneal dystrophy" EXACT [Orphanet:2709] synonym: "Rutherfurd syndrome" EXACT [OMIM:180900, Orphanet:2709] xref: GARD:212 {source="Orphanet:2709"} xref: ICD10CM:Q87.8 {source="Orphanet:2709", source="Orphanet:2709/attributed", source="Orphanet:2709/ntbt"} +xref: icd11.foundation:183543626 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537732 {source="Orphanet:2709", source="MONDO:equivalentTo", source="Orphanet:2709/e"} xref: OMIM:180900 {source="Orphanet:2709", source="GARD:0000212", source="MONDO:equivalentTo", source="Orphanet:2709/e"} @@ -164241,6 +165523,7 @@ xref: DOID:452 {source="MONDO:equivalentTo"} xref: EFO:1000384 {source="MONDO:equivalentTo"} xref: GARD:17789 {source="Orphanet:454821"} xref: ICD10CM:D11.0 {source="MONDO:relatedTo", source="Orphanet:454821", source="Orphanet:454821/ntbt"} +xref: icd11.foundation:1856218901 {source="MONDO:equivalentTo"} xref: ICDO:8940/0 {source="NCIT:C8602"} xref: MESH:D008949 {source="MONDO:equivalentTo", source="DOID:452"} xref: NCIT:C35691 {source="DOID:452"} @@ -164325,6 +165608,7 @@ synonym: "SENS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:181270] xref: DOID:0111550 {source="MONDO:equivalentTo"} xref: GARD:159 {source="Orphanet:2036"} xref: ICD10CM:Q87.8 {source="Orphanet:2036", source="Orphanet:2036/attributed", source="Orphanet:2036/ntbt"} +xref: icd11.foundation:88843032 {source="MONDO:equivalentTo"} xref: MESH:C536623 {source="Orphanet:2036", source="MONDO:equivalentTo", source="Orphanet:2036/e"} xref: OMIM:181270 {source="Orphanet:2036", source="MONDO:equivalentTo", source="GARD:0000159", source="Orphanet:2036/e"} xref: Orphanet:2036 {source="MONDO:equivalentTo", source="GARD:0000159", source="OMIM:181270"} @@ -164526,6 +165810,7 @@ synonym: "ums" EXACT [MONDO:Lexical, OMIM:181450, Orphanet:3138] xref: DOID:0060614 {source="MONDO:equivalentTo"} xref: GARD:118 {source="Orphanet:3138"} xref: ICD10CM:Q71.8 {source="Orphanet:3138/attributed", source="Orphanet:3138/ntbt", source="Orphanet:3138", source="DOID:0060614"} +xref: icd11.foundation:1508836700 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536937 {source="Orphanet:3138", source="MONDO:equivalentTo", source="Orphanet:3138/e", source="DOID:0060614"} xref: NORD:1695 {source="MONDO:NORD"} @@ -164924,6 +166209,7 @@ synonym: "syndrome of widened medullary cavities of the metacarpals and phalange synonym: "widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness" RELATED [GARD:0000122] xref: GARD:122 {source="Orphanet:85191"} xref: ICD10CM:Q78.8 {source="Orphanet:85191", source="Orphanet:85191/attributed", source="Orphanet:85191/ntbt"} +xref: icd11.foundation:1084593684 {source="MONDO:equivalentTo"} xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537343 {source="MONDO:equivalentTo"} xref: NORD:1718 {source="MONDO:NORD"} @@ -165047,6 +166333,7 @@ xref: DECIPHER:8 {source="MONDO:equivalentTo"} xref: DOID:0060768 {source="MONDO:equivalentTo"} xref: GARD:8197 {source="Orphanet:819"} xref: ICD10CM:Q93.5 {source="Orphanet:819/attributed", source="Orphanet:819/ntbt", source="DOID:0060768", source="Orphanet:819"} +xref: icd11.foundation:989025532 {source="MONDO:equivalentTo"} xref: ICD9:758.33 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D058496 {source="Orphanet:819/e", source="MONDO:equivalentTo", source="Orphanet:819"} xref: NCIT:C75469 {source="MONDO:equivalentTo"} @@ -165098,6 +166385,7 @@ xref: DOID:13096 {source="EFO:1001186", source="MONDO:equivalentTo"} xref: EFO:1001186 {source="MONDO:equivalentTo"} xref: GARD:7664 {source="Orphanet:820"} xref: ICD10CM:I77.8 {source="Orphanet:820/attributed", source="Orphanet:820/ntbt", source="Orphanet:820"} +xref: icd11.foundation:1474816492 {source="MONDO:equivalentTo"} xref: icd11.foundation:1474816492 {source="Orphanet:820", source="MONDO:equivalentTo"} xref: MedDRA:10053841 {source="Orphanet:820", source="Orphanet:820/e"} xref: MESH:D018860 {source="EFO:1001186", source="Orphanet:820", source="MONDO:equivalentTo", source="DOID:13096", source="Orphanet:820/e"} @@ -165377,6 +166665,7 @@ synonym: "spinal myelomeningocele" EXACT [NCIT:C101214] xref: DOID:0080016 {source="MONDO:equivalentTo", source="EFO:0003105"} xref: EFO:0003105 {source="MONDO:equivalentTo"} xref: HP:0002414 {source="MONDO:otherHierarchy", source="EFO:0003105"} +xref: icd11.foundation:2036217905 {source="MONDO:equivalentTo"} xref: ICD9:741 {source="EFO:0003105"} xref: MESH:D016135 {source="MONDO:equivalentTo"} xref: NCIT:C101214 {source="MONDO:equivalentTo", source="EFO:0003105"} @@ -165401,6 +166690,7 @@ subset: rare synonym: "arachnoiditis, spinal" EXACT [NCIT:C50749] synonym: "spinal arachnoiditis" EXACT [OMIM:182950] xref: GARD:15113 {source="OMIM:182950"} +xref: icd11.foundation:1074591848 {source="MONDO:equivalentTo"} xref: MESH:C531624 {source="MONDO:equivalentTo"} xref: NCIT:C50749 {source="MONDO:equivalentTo"} xref: OMIM:182950 {source="MONDO:equivalentTo"} @@ -165534,6 +166824,7 @@ synonym: "spinocerebellar ataxia type 6" EXACT [MONDORULE:1, OMIM:183086] xref: DOID:0050956 {source="MONDO:equivalentTo"} xref: GARD:10351 {source="Orphanet:98758"} xref: ICD10CM:G11.2 {source="Orphanet:98758", source="Orphanet:98758/attributed", source="Orphanet:98758/ntbt"} +xref: icd11.foundation:1056119281 {source="MONDO:equivalentTo"} xref: NCIT:C142838 {source="MONDO:equivalentTo"} xref: OMIM:183086 {source="MONDO:equivalentTo", source="Orphanet:98758", source="DOID:0050956", source="Orphanet:98758/e"} xref: Orphanet:98758 {source="MONDO:equivalentTo", source="OMIM:183086"} @@ -165583,6 +166874,7 @@ xref: DOID:0050955 {source="MONDO:equivalentTo", source="MONDO:preferredExternal xref: DOID:0060204 {source="MONDO:equivalentTo"} xref: GARD:4072 {source="Orphanet:98756"} xref: ICD10CM:G11.2 {source="Orphanet:98756/attributed", source="Orphanet:98756/ntbt", source="Orphanet:98756"} +xref: icd11.foundation:1232187870 {source="MONDO:equivalentTo"} xref: NCIT:C148315 {source="MONDO:equivalentTo"} xref: OMIM:183090 {source="Orphanet:98756", source="MONDO:equivalentTo", source="DOID:0050955", source="Orphanet:98756/e"} xref: Orphanet:98756 {source="OMIM:183090", source="MONDO:equivalentTo"} @@ -165863,6 +167155,7 @@ synonym: "spondyloepiphyseal dysplasia, myopia, and sensorineural deafness" RELA synonym: "spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome" EXACT [Orphanet:163668] xref: GARD:16996 {source="Orphanet:163668"} xref: ICD10CM:Q77.7 {source="Orphanet:163668/attributed", source="Orphanet:163668/ntbt", source="Orphanet:163668"} +xref: icd11.foundation:800575171 {source="MONDO:equivalentTo"} xref: MESH:C566659 {source="MONDO:equivalentTo"} xref: OMIM:184000 {source="Orphanet:163668/e", source="MONDO:equivalentTo", source="Orphanet:163668"} xref: Orphanet:163668 {source="MONDO:equivalentTo", source="OMIM:184000"} @@ -165932,6 +167225,7 @@ xref: EFO:0007493 {source="MONDO:equivalentTo"} xref: HP:0003302 {source="MONDO:otherHierarchy"} xref: ICD10CM:M43.1 {source="DOID:6682"} xref: ICD10CM:M43.10 {source="DOID:6682"} +xref: icd11.foundation:1075039772 {source="MONDO:equivalentTo"} xref: MESH:D013168 {source="MONDO:equivalentTo", source="EFO:0007493", source="DOID:6682"} xref: NCIT:C35033 {source="MONDO:equivalentTo", source="DOID:6682"} xref: OMIM:184200 {source="MONDO:equivalentTo", source="DOID:6682"} @@ -166013,6 +167307,7 @@ synonym: "spondylometaphyseal dysplasia, Kozlowski type" EXACT CLINGEN_LABEL [MO xref: DOID:0111554 {source="MONDO:equivalentTo"} xref: GARD:3047 {source="Orphanet:93314"} xref: ICD10CM:Q77.8 {source="Orphanet:93314", source="Orphanet:93314/attributed", source="Orphanet:93314/ntbt"} +xref: icd11.foundation:360868302 {source="MONDO:equivalentTo"} xref: MESH:C535797 {source="MONDO:equivalentTo", source="Orphanet:93314", source="Orphanet:93314/e"} xref: OMIM:184252 {source="MONDO:equivalentTo", source="Orphanet:93314", source="Orphanet:93314/e"} xref: Orphanet:93314 {source="MONDO:equivalentTo", source="OMIM:184252"} @@ -166043,6 +167338,7 @@ synonym: "spondylometaphyseal dysplasia, Schmidt type" EXACT [OMIM:184253] xref: DOID:0112296 {source="MONDO:equivalentTo"} xref: GARD:504 {source="Orphanet:93316"} xref: ICD10CM:Q77.8 {source="Orphanet:93316/attributed", source="Orphanet:93316/ntbt", source="Orphanet:93316"} +xref: icd11.foundation:1092012084 {source="MONDO:equivalentTo"} xref: MESH:C535794 {source="MONDO:equivalentTo"} xref: OMIM:184253 {source="Orphanet:93316/e", source="MONDO:equivalentTo", source="Orphanet:93316"} xref: Orphanet:93316 {source="MONDO:equivalentTo", source="OMIM:184253"} @@ -166071,6 +167367,7 @@ synonym: "Sutcliffe type of spondylometaphyseal dysplasia" RELATED [GARD:0004991 xref: DOID:0112297 {source="MONDO:equivalentTo"} xref: GARD:4991 {source="Orphanet:93315"} xref: ICD10CM:Q77.8 {source="Orphanet:93315", source="Orphanet:93315/attributed", source="Orphanet:93315/ntbt"} +xref: icd11.foundation:1295452752 {source="MONDO:equivalentTo"} xref: MESH:C535793 {source="MONDO:equivalentTo", source="Orphanet:93315", source="Orphanet:93315/e"} xref: OMIM:184255 {source="MONDO:equivalentTo", source="Orphanet:93315", source="Orphanet:93315/e"} xref: Orphanet:93315 {source="MONDO:equivalentTo", source="OMIM:184255"} @@ -166119,6 +167416,7 @@ synonym: "Sprengel's shoulder" RELATED [GARD:0007693] xref: GARD:7693 {source="Orphanet:3181"} xref: HP:0000912 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q74.0 {source="Orphanet:3181", source="Orphanet:3181/ntbt"} +xref: icd11.foundation:2144522441 {source="MONDO:equivalentTo"} xref: icd11.foundation:2144522441 {source="MONDO:equivalentTo", source="Orphanet:3181"} xref: MedDRA:10010455 {source="Orphanet:3181", source="Orphanet:3181/e"} xref: MESH:C535802 {source="MONDO:equivalentTo", source="Orphanet:3181", source="Orphanet:3181/e"} @@ -166157,6 +167455,7 @@ synonym: "stapes ankylosis with BROAD thumb and toes" RELATED [OMIM:184460] synonym: "Teunissen-Cremers syndrome" EXACT [OMIM:184460, Orphanet:140917] xref: GARD:12631 {source="Orphanet:140917"} xref: ICD10CM:Q87.8 {source="Orphanet:140917/attributed", source="Orphanet:140917/ntbt", source="Orphanet:140917"} +xref: icd11.foundation:387089262 {source="MONDO:equivalentTo"} xref: OMIM:184460 {source="Orphanet:140917", source="MONDO:equivalentTo", source="Orphanet:140917/e"} xref: Orphanet:140917 {source="MONDO:equivalentTo", source="OMIM:184460"} xref: SCTID:719305006 {source="MONDO:equivalentTo"} @@ -166234,6 +167533,7 @@ synonym: "Stein-Leventhal syndrome" EXACT [DOID:11612, NCIT:C26862, OMIM:184700, xref: DOID:11612 {source="EFO:0000660", source="MONDO:equivalentTo"} xref: EFO:0000660 {source="DOID:11612", source="MONDO:equivalentTo"} xref: ICD10CM:E28.2 {source="DOID:11612"} +xref: icd11.foundation:1213633323 {source="MONDO:equivalentTo"} xref: ICD9:256.4 {source="EFO:0000660", source="DOID:11612", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D011085 {source="EFO:0000660", source="DOID:11612", source="MONDO:equivalentTo"} xref: NCIT:C26862 {source="EFO:0000660", source="DOID:11612", source="MONDO:equivalentTo"} @@ -166409,6 +167709,7 @@ synonym: "stiff skin syndrome" EXACT [MONDO:Lexical, OMIM:184900] xref: DOID:0111561 {source="MONDO:equivalentTo"} xref: GARD:5025 {source="Orphanet:2833"} xref: ICD10CM:L98.8 {source="Orphanet:2833", source="Orphanet:2833/attributed", source="Orphanet:2833/ntbt"} +xref: icd11.foundation:642409035 {source="MONDO:equivalentTo"} xref: MESH:C566112 {source="MONDO:equivalentTo"} xref: NCIT:C118636 {source="MONDO:equivalentTo"} xref: OMIM:184900 {source="MONDO:equivalentTo", source="Orphanet:2833", source="Orphanet:2833/e"} @@ -166439,6 +167740,7 @@ synonym: "stomatocytosis I" RELATED [GARD:0004183] xref: DOID:0111562 {source="MONDO:equivalentTo"} xref: GARD:4183 {source="Orphanet:3203"} xref: ICD10CM:D58.8 {source="Orphanet:3203/attributed", source="Orphanet:3203/ntbt", source="Orphanet:3203"} +xref: icd11.foundation:595647587 {source="MONDO:equivalentTo"} xref: MESH:C566111 {source="MONDO:equivalentTo"} xref: OMIM:185000 {source="Orphanet:3203", source="MONDO:equivalentTo", source="Orphanet:3203/e"} xref: Orphanet:3203 {source="MONDO:equivalentTo", source="OMIM:185000"} @@ -166625,6 +167927,7 @@ synonym: "SWS type III - isolated leptomeningeal angiomas" RELATED [GARD:0007706 xref: DOID:0111563 {source="MONDO:equivalentTo"} xref: GARD:7706 {source="Orphanet:3205"} xref: ICD10CM:Q85.8 {source="Orphanet:3205/inclusion", source="Orphanet:3205", source="Orphanet:3205/ntbt"} +xref: icd11.foundation:1173035836 {source="MONDO:equivalentTo"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10042265 {source="Orphanet:3205", source="Orphanet:3205/e"} xref: MedDRA:10057653 {source="Orphanet:3205", source="Orphanet:3205/e"} @@ -166677,6 +167980,7 @@ synonym: "Worster Drought syndrome" RELATED [GARD:0005598] synonym: "Worster-Drought syndrome" EXACT [OMIM:185480] xref: GARD:5598 {source="Orphanet:3465"} xref: ICD10CM:G80.8 {source="Orphanet:3465/ntbt", source="Orphanet:3465"} +xref: icd11.foundation:1834138618 {source="MONDO:equivalentTo"} xref: icd11.foundation:1834138618 {source="Orphanet:3465", source="MONDO:equivalentTo"} xref: MESH:C536747 {source="Orphanet:3465", source="MONDO:equivalentTo", source="Orphanet:3465/e"} xref: OMIM:185480 {source="Orphanet:3465", source="MONDO:equivalentTo", source="Orphanet:3465/e"} @@ -166784,6 +168088,7 @@ synonym: "symphalangism, distal" RELATED [OMIM:185700] xref: GARD:5074 {source="Orphanet:3248"} xref: HP:0100263 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q70.9 {source="Orphanet:3248/attributed", source="Orphanet:3248/ntbt", source="Orphanet:3248"} +xref: icd11.foundation:1737945585 {source="MONDO:equivalentTo"} xref: MESH:C566099 {source="MONDO:equivalentTo"} xref: OMIM:185700 {source="Orphanet:3248", source="MONDO:equivalentTo", source="Orphanet:3248/e"} xref: Orphanet:3248 {source="OMIM:185700", source="MONDO:equivalentTo"} @@ -166841,6 +168146,7 @@ xref: DOID:0050788 {source="MONDO:equivalentTo"} xref: GARD:8182 {source="Orphanet:3250"} xref: HP:0100264 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q70.9 {source="Orphanet:3250/attributed", source="Orphanet:3250/ntbt", source="Orphanet:3250"} +xref: icd11.foundation:49802338 {source="MONDO:equivalentTo"} xref: MESH:C536223 {source="Orphanet:3250/e", source="MONDO:equivalentTo", source="Orphanet:3250"} xref: OMIMPS:185800 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:3250 {source="OMIM:185800", source="MONDO:equivalentTo"} @@ -166874,6 +168180,7 @@ xref: ICD10CM:Q70.0 {source="Orphanet:93402", source="Orphanet:93402/nd", source xref: ICD10CM:Q70.1 {source="Orphanet:93402", source="Orphanet:93402/nd", source="Orphanet:93402/attributed"} xref: ICD10CM:Q70.2 {source="Orphanet:93402", source="Orphanet:93402/nd", source="Orphanet:93402/attributed"} xref: ICD10CM:Q70.3 {source="Orphanet:93402", source="Orphanet:93402/nd", source="Orphanet:93402/attributed"} +xref: icd11.foundation:1841508645 {source="MONDO:equivalentTo"} xref: OMIM:185900 {source="MONDO:equivalentTo", source="Orphanet:93402", source="Orphanet:93402/e"} xref: Orphanet:1527 {source="MONDO:relatedTo", source="OMIM:185900"} xref: Orphanet:93402 {source="OMIM:185900", source="MONDO:equivalentTo"} @@ -166913,6 +168220,7 @@ synonym: "synpolydactyly, Vordingborg type" EXACT [Orphanet:295195] xref: GARD:17358 {source="Orphanet:295195"} xref: ICD10CM:Q70.0 {source="Orphanet:295195", source="Orphanet:295195/nd", source="Orphanet:295195/attributed"} xref: ICD10CM:Q70.2 {source="Orphanet:295195", source="Orphanet:295195/nd", source="Orphanet:295195/attributed"} +xref: icd11.foundation:1701170393 {source="MONDO:equivalentTo"} xref: OMIM:186000 {source="Orphanet:295195", source="MONDO:equivalentTo", source="Orphanet:295195/e"} xref: Orphanet:295195 {source="MONDO:equivalentTo", source="OMIM:186000"} xref: Orphanet:93403 {source="OMIM:186000"} @@ -166950,6 +168258,7 @@ synonym: "syndactyly, type III" RELATED [OMIM:186100] xref: DOID:0111817 {source="MONDO:equivalentTo"} xref: GARD:5088 {source="Orphanet:93404"} xref: ICD10CM:Q70.1 {source="Orphanet:93404/attributed", source="Orphanet:93404/ntbt", source="Orphanet:93404"} +xref: icd11.foundation:144846004 {source="MONDO:equivalentTo"} xref: MESH:C538154 {source="Orphanet:93404/e", source="MONDO:equivalentTo", source="Orphanet:93404"} xref: OMIM:186100 {source="Orphanet:93404/e", source="MONDO:equivalentTo", source="Orphanet:93404"} xref: Orphanet:93404 {source="MONDO:equivalentTo", source="OMIM:186100"} @@ -166984,6 +168293,7 @@ synonym: "syndactyly, type IV" RELATED [MONDO:Lexical, OMIM:186200] xref: DOID:0111818 {source="MONDO:equivalentTo"} xref: GARD:4434 {source="Orphanet:93405"} xref: ICD10CM:Q70.4 {source="Orphanet:93405", source="Orphanet:93405/attributed", source="Orphanet:93405/ntbt"} +xref: icd11.foundation:75755208 {source="MONDO:equivalentTo"} xref: MESH:C566092 {source="MONDO:equivalentTo"} xref: OMIM:186200 {source="Orphanet:93405/e", source="MONDO:equivalentTo", source="Orphanet:93405"} xref: Orphanet:93405 {source="MONDO:equivalentTo", source="OMIM:186200"} @@ -167017,6 +168327,7 @@ xref: DOID:0111819 {source="MONDO:equivalentTo"} xref: GARD:5089 {source="Orphanet:93406"} xref: ICD10CM:Q70.0 {source="Orphanet:93406/nd", source="Orphanet:93406/attributed", source="Orphanet:93406"} xref: ICD10CM:Q70.2 {source="Orphanet:93406/nd", source="Orphanet:93406/attributed", source="Orphanet:93406"} +xref: icd11.foundation:283224140 {source="MONDO:equivalentTo"} xref: MESH:C538155 {source="Orphanet:93406/e", source="MONDO:equivalentTo", source="Orphanet:93406"} xref: OMIM:186300 {source="Orphanet:93406/e", source="MONDO:equivalentTo", source="Orphanet:93406"} xref: Orphanet:93406 {source="MONDO:equivalentTo", source="OMIM:186300"} @@ -167151,6 +168462,7 @@ xref: DOID:0050789 {source="MONDO:equivalentTo"} xref: EFO:0008965 {source="MONDO:equivalentTo"} xref: GARD:9225 {source="Orphanet:1412"} xref: ICD10CM:Q74.8 {source="Orphanet:1412", source="Orphanet:1412/attributed", source="Orphanet:1412/ntbt"} +xref: icd11.foundation:1118132902 {source="MONDO:equivalentTo"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536943 {source="Orphanet:1412", source="Orphanet:1412/e"} xref: OMIM:186570 {source="MONDO:equivalentTo", source="Orphanet:1412", source="DOID:0050789", source="Orphanet:1412/e"} @@ -167204,6 +168516,7 @@ synonym: "synovitis granulomatous with uveitis and cranial neuropathies" RELATED synonym: "synovitis, granulomatous, with uveitis and cranial neuropathies" RELATED [OMIM:186580] xref: DOID:0050678 {source="MONDO:equivalentTo"} xref: GARD:304 {source="Orphanet:90340"} +xref: icd11.foundation:382488319 {source="MONDO:equivalentTo"} xref: ICD9:692.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:714.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10071755 {source="Orphanet:90340", source="Orphanet:90340/e"} @@ -167403,6 +168716,7 @@ subset: rare synonym: "telecanthus" EXACT [OMIM:187350] xref: GARD:19505 {source="Orphanet:98575"} xref: ICD10CM:Q10.3 {source="Orphanet:98575", source="Orphanet:98575/attributed", source="Orphanet:98575/ntbt"} +xref: icd11.foundation:210416501 {source="MONDO:equivalentTo"} xref: MESH:C562941 {source="MONDO:equivalentTo"} xref: OMIM:187350 {source="MONDO:equivalentTo"} xref: Orphanet:98575 {source="MONDO:equivalentTo"} @@ -167538,6 +168852,7 @@ xref: DOID:6419 {source="MONDO:equivalentTo"} xref: GARD:2245 {source="Orphanet:3303"} xref: ICD10CM:Q21.3 {source="Orphanet:3303", source="MONDO:equivalentTo", source="DOID:6419", source="Orphanet:3303/e"} xref: icd11.foundation:90973426 {source="Orphanet:3303", source="MONDO:equivalentTo"} +xref: icd11.foundation:90973426 {source="MONDO:equivalentTo"} xref: ICD9:745.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:6419"} xref: MedDRA:10016193 {source="Orphanet:3303", source="Orphanet:3303/e"} xref: MESH:D013771 {source="Orphanet:3303", source="MONDO:equivalentTo", source="DOID:6419", source="Orphanet:3303/e"} @@ -167722,6 +169037,7 @@ synonym: "TLPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:187760] xref: GARD:15116 {source="OMIM:187760"} xref: GARD:5184 {source="Orphanet:3317"} xref: ICD10CM:Q77.2 {source="Orphanet:3317", source="Orphanet:3317/attributed", source="Orphanet:3317/ntbt"} +xref: icd11.foundation:337990406 {source="MONDO:equivalentTo"} xref: MESH:C536517 {source="MONDO:equivalentTo", source="Orphanet:3317", source="Orphanet:3317/e"} xref: OMIM:187760 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:3317", source="Orphanet:3317/btnt"} xref: OMIM:187770 {source="MONDO:equivalentTo", source="Orphanet:3317", source="Orphanet:3317/e"} @@ -167871,6 +169187,7 @@ synonym: "thrombocytopenia, Paris-TROUSSEAU type" RELATED [MONDO:Lexical, OMIM:1 synonym: "thrombocytopenia, Paris-Trousseau type, Isolated cases" EXACT [OMIM:188025, OMIM:genemap2] xref: GARD:4224 {source="Orphanet:851"} xref: ICD10CM:D69.4 {source="Orphanet:851", source="Orphanet:851/attributed", source="Orphanet:851/ntbt"} +xref: icd11.foundation:1441183910 {source="MONDO:equivalentTo"} xref: MESH:C538617 {source="Orphanet:851", source="Orphanet:851/e"} xref: OMIM:188025 {source="Orphanet:851", source="MONDO:equivalentTo", source="Orphanet:851/e"} xref: Orphanet:851 {source="MONDO:equivalentTo", source="OMIM:188025"} @@ -168332,6 +169649,7 @@ xref: EFO:0003768 {source="DOID:0050742", source="MONDO:equivalentTo"} xref: ICD10CM:F17 {source="DOID:0050742", source="MONDO:equivalentTo"} xref: ICD10CM:F17.2 {source="DOID:0050742"} xref: ICD10CM:F17.20 {source="DOID:0050742"} +xref: icd11.foundation:1699574100 {source="MONDO:equivalentTo"} xref: ICD9:305.1 {source="EFO:0003768"} xref: MESH:D012907 {source="EFO:0003768"} xref: MESH:D014029 {source="DOID:0050742", source="MONDO:equivalentTo", source="EFO:0003768"} @@ -168504,6 +169822,7 @@ xref: EFO:0007297 {source="MONDO:equivalentTo"} xref: GARD:8528 {source="Orphanet:244242"} xref: ICD10CM:O14.2 {source="Orphanet:244242", source="Orphanet:244242/e", source="DOID:13133"} xref: icd11.foundation:1748922908 {source="Orphanet:244242", source="MONDO:equivalentTo"} +xref: icd11.foundation:1748922908 {source="MONDO:equivalentTo"} xref: MedDRA:10049058 {source="Orphanet:244242", source="Orphanet:244242/e"} xref: MESH:D017359 {source="Orphanet:244242", source="MONDO:equivalentTo", source="Orphanet:244242/e", source="DOID:13133", source="EFO:0007297"} xref: NCIT:C84750 {source="MONDO:equivalentTo", source="DOID:13133"} @@ -168568,6 +169887,7 @@ synonym: "tracheobronchopathia osteoplastica" RELATED [GARD:0005235] synonym: "tracheopathia osteoplastica" EXACT [OMIM:189961, Orphanet:3348] xref: GARD:5235 {source="Orphanet:3348"} xref: ICD10CM:J98.0 {source="Orphanet:3348", source="Orphanet:3348/ntbt"} +xref: icd11.foundation:1797446244 {source="MONDO:equivalentTo"} xref: icd11.foundation:1797446244 {source="MONDO:equivalentTo", source="Orphanet:3348"} xref: MESH:C536977 {source="MONDO:equivalentTo"} xref: OMIM:189961 {source="MONDO:equivalentTo", source="Orphanet:3348", source="Orphanet:3348/e"} @@ -168683,6 +170003,7 @@ synonym: "trichodontoosseous syndrome" EXACT [OMIM:190320, OMIM:genemap2] xref: DOID:0111565 {source="MONDO:equivalentTo"} xref: GARD:7799 {source="Orphanet:3352"} xref: ICD10CM:Q82.4 {source="Orphanet:3352/attributed", source="Orphanet:3352/ntbt", source="Orphanet:3352"} +xref: icd11.foundation:131993435 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536549 {source="Orphanet:3352/e", source="MONDO:equivalentTo", source="Orphanet:3352"} xref: NORD:1786 {source="MONDO:NORD"} @@ -168858,6 +170179,7 @@ xref: EFO:1001219 {source="MONDO:equivalentTo"} xref: GARD:7805 {source="Orphanet:221091"} xref: ICD10CM:G50.0 {source="MONDO:equivalentTo", source="DOID:12098", source="Orphanet:221091", source="EFO:1001219", source="Orphanet:221091/e"} xref: icd11.foundation:1803581281 {source="MONDO:equivalentTo", source="Orphanet:221091"} +xref: icd11.foundation:1803581281 {source="MONDO:equivalentTo"} xref: ICD9:350.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12098"} xref: MedDRA:10044652 {source="Orphanet:221091", source="EFO:1001219", source="Orphanet:221091/e"} xref: MESH:D014277 {source="MONDO:equivalentTo", source="DOID:12098", source="Orphanet:221091", source="EFO:1001219", source="Orphanet:221091/e"} @@ -169249,6 +170571,7 @@ synonym: "Reinhardt-Pfeiffer syndrome" EXACT [Orphanet:2634] synonym: "ulna and fibula, hypoplasia OF" RELATED [OMIM:191400] xref: GARD:3555 {source="Orphanet:2634"} xref: ICD10CM:Q78.8 {source="Orphanet:2634", source="Orphanet:2634/attributed", source="Orphanet:2634/ntbt"} +xref: icd11.foundation:1393171517 {source="MONDO:equivalentTo"} xref: MESH:C537349 {source="MONDO:equivalentTo", source="Orphanet:2634", source="Orphanet:2634/e"} xref: OMIM:191400 {source="MONDO:equivalentTo", source="Orphanet:2634", source="Orphanet:2634/e"} xref: Orphanet:2634 {source="OMIM:191400", source="MONDO:equivalentTo"} @@ -169277,6 +170600,7 @@ synonym: "Rosenberg-Lohr syndrome" EXACT [Orphanet:1837] synonym: "ulna metaphyseal dysplasia syndrome" EXACT [OMIM:191420] xref: GARD:4740 {source="Orphanet:1837"} xref: ICD10CM:Q78.5 {source="Orphanet:1837/attributed", source="Orphanet:1837/ntbt", source="Orphanet:1837"} +xref: icd11.foundation:1343160916 {source="MONDO:equivalentTo"} xref: MESH:C536935 {source="Orphanet:1837/e", source="MONDO:equivalentTo", source="Orphanet:1837"} xref: OMIM:191420 {source="Orphanet:1837/e", source="MONDO:equivalentTo", source="Orphanet:1837"} xref: Orphanet:1837 {source="OMIM:191420", source="MONDO:equivalentTo"} @@ -169305,6 +170629,7 @@ synonym: "ulnar hypoplasia" RELATED [OMIM:191440] synonym: "upper limb mesomelic dysplasia" EXACT [OMIM:191440] xref: GARD:2408 {source="Orphanet:2497"} xref: ICD10CM:Q78.8 {source="Orphanet:2497/attributed", source="Orphanet:2497/ntbt", source="Orphanet:2497"} +xref: icd11.foundation:2013121778 {source="MONDO:equivalentTo"} xref: MESH:C538069 {source="MONDO:equivalentTo"} xref: OMIM:191440 {source="Orphanet:2497", source="MONDO:equivalentTo", source="Orphanet:2497/e"} xref: Orphanet:2497 {source="MONDO:equivalentTo", source="OMIM:191440"} @@ -169331,6 +170656,7 @@ synonym: "uncombable hair syndrome" EXACT [OMIM:191480] synonym: "unmanageable hair syndrome" RELATED [GARD:0005404] xref: GARD:5404 {source="Orphanet:1410"} xref: ICD10CM:Q84.1 {source="Orphanet:1410/attributed", source="Orphanet:1410/ntbt", source="Orphanet:1410"} +xref: icd11.foundation:244892708 {source="MONDO:equivalentTo"} xref: MESH:C536939 {source="Orphanet:1410", source="MONDO:equivalentTo", source="Orphanet:1410/e"} xref: Orphanet:1410 {source="MONDO:equivalentTo", source="OMIM:191480"} xref: SCTID:254230001 {source="MONDO:equivalentTo"} @@ -169353,6 +170679,7 @@ synonym: "uncombable hair, retinal pigmentary dystrophy, dental anomalies, and b synonym: "uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome" EXACT [Orphanet:1264] xref: GARD:938 {source="Orphanet:1264"} xref: ICD10CM:Q82.4 {source="Orphanet:1264", source="Orphanet:1264/attributed", source="Orphanet:1264/ntbt"} +xref: icd11.foundation:200680230 {source="MONDO:equivalentTo"} xref: MESH:C536576 {source="MONDO:equivalentTo"} xref: OMIM:191482 {source="Orphanet:1264", source="MONDO:equivalentTo", source="Orphanet:1264/e"} xref: Orphanet:1264 {source="MONDO:equivalentTo", source="OMIM:191482"} @@ -169384,6 +170711,7 @@ synonym: "Perthes-like hip disease, enchondromata, and Ecchondromata" RELATED [O synonym: "Upington disease" EXACT [OMIM:191520] xref: GARD:5421 {source="Orphanet:3408"} xref: ICD10CM:M91.8 {source="Orphanet:3408", source="Orphanet:3408/attributed", source="Orphanet:3408/ntbt"} +xref: icd11.foundation:1846351406 {source="MONDO:equivalentTo"} xref: MESH:C536472 {source="Orphanet:3408/e", source="MONDO:equivalentTo", source="Orphanet:3408"} xref: OMIM:191520 {source="Orphanet:3408/e", source="MONDO:equivalentTo", source="Orphanet:3408"} xref: Orphanet:3408 {source="OMIM:191520", source="MONDO:equivalentTo"} @@ -169459,6 +170787,7 @@ synonym: "ureterocele (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:4022 {source="MONDO:equivalentTo", source="EFO:1001227"} xref: EFO:1001227 {source="MONDO:equivalentTo"} xref: HP:0000070 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:408801251 {source="MONDO:equivalentTo"} xref: ICD9:593.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10056433 {source="EFO:1001227"} xref: MESH:D014518 {source="MONDO:equivalentTo", source="EFO:1001227", source="DOID:4022"} @@ -169536,6 +170865,7 @@ synonym: "urticaria-deafness-amyloidosis syndrome" RELATED [OMIM:191900] xref: DOID:0050854 {source="MONDO:equivalentTo"} xref: GARD:8472 {source="Orphanet:575"} xref: ICD10CM:E85.0 {source="Orphanet:575/attributed", source="Orphanet:575/ntbt", source="Orphanet:575"} +xref: icd11.foundation:1983358487 {source="MONDO:equivalentTo"} xref: ICD9:708.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10064569 {source="Orphanet:575/e", source="Orphanet:575"} xref: NCIT:C119054 {source="MONDO:equivalentTo"} @@ -169951,6 +171281,7 @@ synonym: "vertical talus, congenital" RELATED [GARD:0005488, MONDO:Lexical, OMIM xref: DOID:0111568 {source="MONDO:equivalentTo"} xref: GARD:5488 {source="Orphanet:178382"} xref: ICD10CM:Q66.8 {source="Orphanet:178382/ntbt", source="Orphanet:178382/inclusion", source="Orphanet:178382"} +xref: icd11.foundation:1525079646 {source="MONDO:equivalentTo"} xref: icd11.foundation:1525079646 {source="MONDO:equivalentTo", source="Orphanet:178382"} xref: ICD9:755.67 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10066242 {source="Orphanet:178382/e", source="Orphanet:178382"} @@ -170113,6 +171444,7 @@ subset: rare xref: DOID:12306 {source="MONDO:equivalentTo", source="EFO:0004208"} xref: EFO:0004208 {source="DOID:12306", source="MONDO:equivalentTo"} xref: ICD10CM:L80 {source="DOID:12306", source="MONDO:equivalentTo"} +xref: icd11.foundation:1894744640 {source="MONDO:equivalentTo"} xref: ICD9:709.01 {source="DOID:12306", source="EFO:0004208"} xref: MESH:D014820 {source="DOID:12306", source="MONDO:equivalentTo", source="EFO:0004208"} xref: NCIT:C26915 {source="DOID:12306", source="MONDO:equivalentTo", source="EFO:0004208"} @@ -170146,6 +171478,7 @@ synonym: "VRCP autosomal dominant" RELATED [GARD:0005507] xref: DOID:0111569 {source="MONDO:equivalentTo"} xref: GARD:5507 {source="Orphanet:3086"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:3086/attributed", source="Orphanet:3086/ntbt", source="Orphanet:3086"} +xref: icd11.foundation:96951767 {source="MONDO:equivalentTo"} xref: MESH:C536352 {source="Orphanet:3086/e", source="MONDO:equivalentTo", source="Orphanet:3086"} xref: OMIM:193220 {source="Orphanet:3086/e", source="MONDO:equivalentTo", source="Orphanet:3086"} xref: Orphanet:263347 {source="OMIM:193220"} @@ -170177,6 +171510,7 @@ synonym: "vitreoretinal degeneration, snowflake type" RELATED [GARD:0009706, MON xref: DOID:0111570 {source="MONDO:equivalentTo"} xref: GARD:9706 {source="Orphanet:91496"} xref: ICD10CM:H35.5 {source="Orphanet:91496/attributed", source="Orphanet:91496/ntbt", source="MONDO:relatedTo", source="Orphanet:91496"} +xref: icd11.foundation:282570444 {source="MONDO:equivalentTo"} xref: MESH:C536677 {source="Orphanet:91496", source="MONDO:equivalentTo", source="Orphanet:91496/e"} xref: OMIM:193230 {source="Orphanet:91496", source="MONDO:equivalentTo", source="Orphanet:91496/e"} xref: Orphanet:91496 {source="MONDO:equivalentTo", source="OMIM:193230"} @@ -170256,6 +171590,7 @@ synonym: "Von Hippel-Lindau syndrome, Modifiers of" RELATED [OMIM:193300] xref: DOID:14175 {source="MONDO:equivalentTo"} xref: GARD:7855 {source="Orphanet:892"} xref: ICD10CM:Q85.8 {source="DOID:14175", source="Orphanet:892/ntbt", source="Orphanet:892/inclusion", source="Orphanet:892"} +xref: icd11.foundation:1985408165 {source="MONDO:equivalentTo"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10047716 {source="Orphanet:892/e", source="Orphanet:892"} xref: MESH:D006623 {source="Orphanet:892/e", source="DOID:14175", source="MONDO:equivalentTo", source="Orphanet:892"} @@ -170342,6 +171677,7 @@ synonym: "WS1" EXACT ABBREVIATION [DOID:0110948, MONDO:Lexical, OMIM:193500, Orp xref: DOID:0110948 {source="MONDO:equivalentTo"} xref: GARD:5519 {source="Orphanet:894"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:894/attributed", source="Orphanet:894/ntbt", source="DOID:0110948", source="Orphanet:894"} +xref: icd11.foundation:547536187 {source="MONDO:equivalentTo"} xref: NCIT:C75008 {source="MONDO:equivalentTo"} xref: OMIM:193500 {source="Orphanet:894/e", source="MONDO:equivalentTo", source="DOID:0110948", source="Orphanet:894"} xref: Orphanet:3440 {source="OMIM:193500"} @@ -170391,6 +171727,7 @@ synonym: "pulmonic stenosis with cafe-Au-lait Spots" RELATED [OMIM:193520] synonym: "Watson syndrome" EXACT [MONDO:Lexical, OMIM:193520] synonym: "WTSN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:193520] xref: DOID:0070483 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1674178232 {source="MONDO:equivalentTo"} xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:193520 {source="MONDO:equivalentTo"} xref: Orphanet:3444 {source="MONDO:equivalentObsolete", source="OMIM:193520"} @@ -170419,6 +171756,7 @@ synonym: "Weyers acrofacial dysostosis" EXACT [MONDO:Lexical, OMIM:193530, Orpha xref: DOID:0111571 {source="MONDO:equivalentTo"} xref: GARD:497 {source="Orphanet:952"} xref: ICD10CM:Q75.4 {source="Orphanet:952/attributed", source="Orphanet:952/ntbt", source="Orphanet:952"} +xref: icd11.foundation:547338814 {source="MONDO:equivalentTo"} xref: ICD9:520.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536695 {source="Orphanet:952", source="MONDO:equivalentTo", source="Orphanet:952/e"} xref: OMIM:193530 {source="Orphanet:952", source="MONDO:equivalentTo", source="Orphanet:952/e"} @@ -170469,6 +171807,7 @@ xref: DOID:0111604 {source="MONDO:equivalentTo", source="MONDO:preferredExternal xref: DOID:0111605 {source="MONDO:equivalentTo"} xref: GARD:6466 {source="Orphanet:2053"} xref: ICD10CM:Q87.0 {source="DOID:0111604", source="Orphanet:2053/attributed", source="Orphanet:2053/ntbt", source="Orphanet:2053"} +xref: icd11.foundation:1314169421 {source="MONDO:equivalentTo"} xref: MESH:C535483 {source="DOID:0111604", source="Orphanet:2053/e", source="MONDO:equivalentTo", source="Orphanet:2053"} xref: NCIT:C98931 {source="DOID:0111604", source="MONDO:equivalentTo"} xref: NORD:1161 {source="MONDO:NORD"} @@ -170678,6 +172017,7 @@ xref: DECIPHER:35 {source="MONDO:equivalentTo"} xref: DOID:14515 {source="MONDO:equivalentTo"} xref: GARD:5528 {source="Orphanet:893"} xref: ICD10CM:Q87.8 {source="Orphanet:893/attributed", source="Orphanet:893/ntbt", source="Orphanet:893"} +xref: icd11.foundation:1858307812 {source="MONDO:equivalentTo"} xref: MESH:C538295 {source="Orphanet:893/e", source="Orphanet:893"} xref: MESH:D017624 {source="DOID:14515", source="Orphanet:893/e", source="MONDO:equivalentTo", source="Orphanet:893"} xref: NCIT:C3718 {source="DOID:14515", source="MONDO:equivalentTo"} @@ -170729,6 +172069,7 @@ synonym: "Wilms tumour and pseudohermaphroditism" EXACT OMO:0003005 [] xref: DOID:3764 {source="MONDO:equivalentTo"} xref: GARD:5576 {source="Orphanet:220"} xref: ICD10CM:N04.1 {source="Orphanet:220/attributed", source="Orphanet:220/ntbt", source="Orphanet:220"} +xref: icd11.foundation:904981302 {source="MONDO:equivalentTo"} xref: ICD9:189.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10070179 {source="Orphanet:220/e", source="Orphanet:220"} xref: MESH:D030321 {source="Orphanet:220/e", source="DOID:3764", source="MONDO:equivalentTo", source="Orphanet:220"} @@ -170799,6 +172140,7 @@ xref: DECIPHER:1 {source="MONDO:equivalentTo"} xref: DOID:0050460 {source="MONDO:equivalentTo"} xref: GARD:7896 {source="Orphanet:280"} xref: ICD10CM:Q93.3 {source="Orphanet:280/inclusion", source="Orphanet:280", source="MONDO:directSiblingOf", source="Orphanet:280/ntbt", source="DOID:0050460"} +xref: icd11.foundation:1337401724 {source="MONDO:equivalentTo"} xref: MedDRA:10050361 {source="Orphanet:280", source="Orphanet:280/e"} xref: MESH:C536740 {source="Orphanet:280", source="Orphanet:280/e"} xref: MESH:D054877 {source="MONDO:equivalentTo", source="Orphanet:280", source="Orphanet:280/e", source="DOID:0050460"} @@ -170845,6 +172187,7 @@ xref: DOID:384 {source="MONDO:equivalentTo"} xref: EFO:1001450 {source="MONDO:equivalentTo"} xref: HP:0001716 {source="MONDO:otherHierarchy"} xref: ICD10CM:I45.6 {source="DOID:384"} +xref: icd11.foundation:1091030330 {source="MONDO:equivalentTo"} xref: ICD9:426.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:384"} xref: MESH:D014927 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="DOID:384"} xref: NCIT:C35132 {source="MONDO:equivalentTo", source="DOID:384"} @@ -170929,6 +172272,7 @@ synonym: "WT limb-blood syndrome" EXACT [OMIM:194350] synonym: "WTsyndrome" RELATED [GARD:0000039] xref: GARD:39 {source="Orphanet:3466"} xref: ICD10CM:D61.0 {source="Orphanet:3466", source="Orphanet:3466/attributed", source="Orphanet:3466/ntbt"} +xref: icd11.foundation:1407849410 {source="MONDO:equivalentTo"} xref: MESH:C536751 {source="Orphanet:3466", source="MONDO:equivalentTo", source="Orphanet:3466/e"} xref: OMIM:194350 {source="Orphanet:3466", source="MONDO:equivalentTo", source="Orphanet:3466/e"} xref: Orphanet:3466 {source="MONDO:equivalentTo", source="OMIM:194350"} @@ -171181,6 +172525,7 @@ synonym: "lack of reflex relaxation of lower oesophageal sphincter" EXACT [DOID: xref: DOID:9164 {source="MONDO:equivalentTo"} xref: HP:0002571 {source="MONDO:otherHierarchy"} xref: ICD10CM:K22.0 {source="DOID:9164"} +xref: icd11.foundation:636464846 {source="MONDO:equivalentTo"} xref: ICD9:530.0 {source="DOID:9164"} xref: MESH:D004931 {source="DOID:9164"} xref: NCIT:C84699 {source="MONDO:otherHierarchy", source="DOID:9164"} @@ -171384,6 +172729,7 @@ synonym: "SLSD with SCID" RELATED [GARD:0002988] synonym: "Slsd with SCID" RELATED [OMIM:200900] xref: GARD:2988 {source="Orphanet:935"} xref: ICD10CM:D82.2 {source="Orphanet:935", source="Orphanet:935/specific", source="Orphanet:935/e"} +xref: icd11.foundation:469016488 {source="MONDO:equivalentTo"} xref: MESH:C536020 {source="Orphanet:935", source="Orphanet:935/e"} xref: MESH:C565984 {source="MONDO:equivalentTo"} xref: OMIM:200900 {source="GARD:0000463", source="MONDO:equivalentTo", source="Orphanet:935", source="GARD:0002988", source="Orphanet:935/e"} @@ -171431,6 +172777,7 @@ synonym: "pyramidal molar-glaucoma-upper abnormal lip syndrome" EXACT [Orphanet: synonym: "pyramidal molars, glaucoma, abnormal upper lip" RELATED [GARD:0000469] xref: GARD:469 {source="Orphanet:2561"} xref: ICD10CM:K00.2 {source="Orphanet:2561", source="Orphanet:2561/attributed", source="Orphanet:2561/ntbt"} +xref: icd11.foundation:1946127088 {source="MONDO:equivalentTo"} xref: MESH:C538170 {source="Orphanet:2561", source="MONDO:equivalentTo", source="Orphanet:2561/e"} xref: OMIM:200970 {source="Orphanet:2561", source="MONDO:equivalentTo", source="Orphanet:2561/e"} xref: Orphanet:2561 {source="MONDO:equivalentTo", source="OMIM:200970"} @@ -171458,6 +172805,7 @@ synonym: "split hand/split foot-mandibular hypoplasia syndrome" EXACT [Orphanet: synonym: "split-hand and split-foot with mandibular hypoplasia" RELATED [OMIM:200980] xref: GARD:480 {source="Orphanet:958"} xref: ICD10CM:Q87.8 {source="Orphanet:958", source="Orphanet:958/attributed", source="Orphanet:958/ntbt"} +xref: icd11.foundation:879242648 {source="MONDO:equivalentTo"} xref: MESH:C535665 {source="MONDO:equivalentTo", source="Orphanet:958", source="Orphanet:958/e"} xref: OMIM:200980 {source="MONDO:equivalentTo", source="Orphanet:958", source="Orphanet:958/e"} xref: Orphanet:958 {source="MONDO:equivalentTo", source="OMIM:200980"} @@ -171489,6 +172837,7 @@ synonym: "Schinzel syndrome 1" EXACT [DOID:9250, MTH:NOCODE] xref: DOID:9250 {source="MONDO:equivalentTo"} xref: GARD:5721 {source="Orphanet:36"} xref: ICD10CM:Q04.0 {source="Orphanet:36/attributed", source="Orphanet:36/ntbt", source="Orphanet:36"} +xref: icd11.foundation:1286493807 {source="MONDO:equivalentTo"} xref: MESH:D055673 {source="DOID:9250", source="MONDO:equivalentTo"} xref: NCIT:C84531 {source="DOID:9250", source="MONDO:equivalentTo"} xref: OMIM:200990 {source="Orphanet:36", source="DOID:9250", source="MONDO:equivalentTo", source="Orphanet:36/e"} @@ -171524,6 +172873,7 @@ synonym: "acrocephalopolydactylous dysplasia" EXACT [OMIM:200995, Orphanet:22105 synonym: "Elejalde syndrome" EXACT [OMIM:200995, Orphanet:221054] xref: GARD:2096 {source="Orphanet:221054"} xref: ICD10CM:Q87.0 {source="Orphanet:221054", source="Orphanet:221054/attributed", source="Orphanet:221054/ntbt"} +xref: icd11.foundation:1177551296 {source="MONDO:equivalentTo"} xref: MESH:C573722 {source="MONDO:equivalentTo"} xref: OMIM:200995 {source="Orphanet:221054", source="MONDO:equivalentTo", source="Orphanet:221054/e"} xref: Orphanet:221054 {source="MONDO:equivalentTo", source="OMIM:200995"} @@ -171638,6 +172988,7 @@ xref: DOID:0050605 {source="MONDO:equivalentTo"} xref: GARD:5723 {source="Orphanet:37"} xref: ICD10CM:E83.2 {source="Orphanet:37/inclusion", source="Orphanet:37", source="Orphanet:37/ntbt"} xref: icd11.foundation:1813939482 {source="MONDO:equivalentTo", source="Orphanet:37"} +xref: icd11.foundation:1813939482 {source="MONDO:equivalentTo"} xref: ICD9:686.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538178 {source="MONDO:equivalentTo"} xref: NCIT:C128802 {source="MONDO:equivalentTo"} @@ -171709,6 +173060,7 @@ synonym: "Richieri-Costa-Colletto syndrome" EXACT [DOID:0060226, Orphanet:1784] xref: DOID:0060226 {source="MONDO:equivalentTo"} xref: GARD:484 {source="Orphanet:1784"} xref: ICD10CM:Q75.1 {source="Orphanet:1784/attributed", source="Orphanet:1784/ntbt", source="Orphanet:1784"} +xref: icd11.foundation:700995487 {source="MONDO:equivalentTo"} xref: MESH:C538186 {source="DOID:0060226"} xref: Orphanet:1784 {source="DOID:0060226", source="MONDO:equivalentTo", source="OMIM:201180"} xref: SCTID:720408003 {source="MONDO:equivalentTo"} @@ -171732,6 +173084,7 @@ synonym: "Gottron syndrome" EXACT [Orphanet:2500] synonym: "Metageria" RELATED [OMIM:201200] xref: GARD:6543 {source="Orphanet:2500"} xref: ICD10CM:L90.8 {source="Orphanet:2500/attributed", source="Orphanet:2500/ntbt", source="Orphanet:2500"} +xref: icd11.foundation:1607996977 {source="MONDO:equivalentTo"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538187 {source="Orphanet:2500", source="MONDO:equivalentTo", source="Orphanet:2500/e"} xref: NORD:1202 {source="MONDO:NORD"} @@ -171874,6 +173227,7 @@ xref: DOID:0080153 {source="MONDO:equivalentTo"} xref: GARD:540 {source="Orphanet:42"} xref: ICD10CM:E71.3 {source="Orphanet:42", source="Orphanet:42/attributed", source="Orphanet:42/ntbt"} xref: ICD10CM:E71.311 {source="MONDO:equivalentTo"} +xref: icd11.foundation:627734797 {source="MONDO:equivalentTo"} xref: ICD9:277.85 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536038 {source="Orphanet:42", source="MONDO:equivalentTo", source="Orphanet:42/e"} xref: NCIT:C84538 {source="MONDO:equivalentTo"} @@ -171918,6 +173272,7 @@ xref: DOID:0080154 {source="MONDO:equivalentTo"} xref: GARD:4822 {source="Orphanet:26792"} xref: ICD10CM:E71.3 {source="Orphanet:26792", source="Orphanet:26792/attributed", source="Orphanet:26792/ntbt"} xref: ICD10CM:E71.312 {source="MONDO:equivalentTo"} +xref: icd11.foundation:180018315 {source="MONDO:equivalentTo"} xref: MESH:C537596 {source="MONDO:equivalentTo", source="Orphanet:26792", source="Orphanet:26792/e"} xref: NCIT:C84539 {source="MONDO:equivalentTo"} xref: NORD:1709 {source="MONDO:NORD"} @@ -171954,6 +173309,7 @@ xref: DOID:0080155 {source="MONDO:equivalentTo"} xref: GARD:5508 {source="Orphanet:26793"} xref: ICD10CM:E71.3 {source="Orphanet:26793", source="Orphanet:26793/attributed", source="Orphanet:26793/ntbt"} xref: ICD10CM:E71.310 {source="MONDO:equivalentTo"} +xref: icd11.foundation:907810567 {source="MONDO:equivalentTo"} xref: NCIT:C98647 {source="MONDO:equivalentTo"} xref: NORD:1827 {source="MONDO:NORD"} xref: OMIM:201475 {source="DOID:0080155", source="MONDO:equivalentTo", source="Orphanet:26793", source="Orphanet:26793/e"} @@ -172063,6 +173419,7 @@ synonym: "HSD3B deficiency" RELATED [GARD:0009152] synonym: "type II 3-beta-hydroxysteroid dehydrogenase deficiency" RELATED [GARD:0009152] xref: GARD:9152 {source="Orphanet:90791"} xref: ICD10CM:E25.0 {source="Orphanet:90791/attributed", source="Orphanet:90791/ntbt", source="Orphanet:90791"} +xref: icd11.foundation:929626064 {source="MONDO:equivalentTo"} xref: MESH:C538236 {source="MONDO:equivalentTo"} xref: NCIT:C131088 {source="MONDO:equivalentTo"} xref: OMIM:201810 {source="Orphanet:90791", source="MONDO:equivalentTo", source="Orphanet:90791/e"} @@ -172145,6 +173502,7 @@ synonym: "P450C11B1 deficiency" RELATED [OMIM:202010] synonym: "steroid 11-Beta-Hydroxylase deficiency" RELATED [OMIM:202010] xref: GARD:5658 {source="Orphanet:90795"} xref: ICD10CM:E25.0 {source="Orphanet:90795", source="Orphanet:90795/attributed", source="Orphanet:90795/ntbt"} +xref: icd11.foundation:791376680 {source="MONDO:equivalentTo"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10000002 {source="Orphanet:90795", source="Orphanet:90795/e"} xref: MESH:C535978 {source="MONDO:equivalentTo", source="Orphanet:90795", source="Orphanet:90795/e"} @@ -172183,6 +173541,7 @@ synonym: "combined 17-hydroxylase/17,20-lyase deficiency" EXACT [Orphanet:90793] synonym: "congenital adrenal hyperplasia type 5" RELATED [GARD:0001469] xref: GARD:1469 {source="Orphanet:90793"} xref: ICD10CM:E25.0 {source="Orphanet:90793", source="Orphanet:90793/attributed", source="Orphanet:90793/ntbt"} +xref: icd11.foundation:587903316 {source="MONDO:equivalentTo"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:202110 {source="MONDO:equivalentTo", source="Orphanet:90793", source="Orphanet:90793/e"} xref: Orphanet:418 {source="OMIM:202110"} @@ -172254,6 +173613,7 @@ synonym: "glucocorticoid deficiency" BROAD [MONDO:Lexical, MONDORULE:1, OMIM:202 xref: DOID:0080620 {source="MONDO:equivalentTo"} xref: GARD:2498 {source="Orphanet:361"} xref: ICD10CM:E27.1 {source="Orphanet:361/attributed", source="Orphanet:361/ntbt", source="Orphanet:361"} +xref: icd11.foundation:861297039 {source="MONDO:equivalentTo"} xref: MESH:C565974 {source="MONDO:equivalentTo"} xref: NCIT:C120446 {source="MONDO:equivalentTo"} xref: OMIMPS:202200 {source="MONDO:equivalentTo"} @@ -172541,6 +173901,7 @@ synonym: "tyrosinase-negative oculocutaneous albinism" EXACT [Orphanet:79431] xref: DOID:0070094 {source="MONDO:equivalentTo"} xref: GARD:16721 {source="Orphanet:79431"} xref: ICD10CM:E70.3 {source="Orphanet:79431/attributed", source="Orphanet:79431/ntbt", source="Orphanet:79431"} +xref: icd11.foundation:1168847652 {source="MONDO:equivalentTo"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C168731 {source="MONDO:equivalentTo"} xref: OMIM:203100 {source="Orphanet:79431/e", source="MONDO:equivalentTo", source="DOID:0070094", source="Orphanet:79431"} @@ -172582,6 +173943,7 @@ synonym: "tyrosinase-positive oculocutaneous albinism" RELATED [GARD:0004038] xref: DOID:0070096 {source="MONDO:equivalentTo"} xref: GARD:4038 {source="Orphanet:79432"} xref: ICD10CM:E70.3 {source="Orphanet:79432/attributed", source="Orphanet:79432/ntbt", source="Orphanet:79432"} +xref: icd11.foundation:2019316252 {source="MONDO:equivalentTo"} xref: MESH:C537730 {source="Orphanet:79432/e", source="MONDO:equivalentTo", source="Orphanet:79432"} xref: OMIM:203200 {source="Orphanet:79432/e", source="MONDO:equivalentTo", source="Orphanet:79432", source="DOID:0070096"} xref: Orphanet:79432 {source="OMIM:203200", source="MONDO:equivalentTo"} @@ -172618,6 +173980,7 @@ synonym: "xanthous oculocutaneous albinism" EXACT [Orphanet:79433] xref: DOID:0070097 {source="MONDO:equivalentTo"} xref: GARD:4039 {source="Orphanet:79433"} xref: ICD10CM:E70.3 {source="Orphanet:79433/attributed", source="Orphanet:79433/ntbt", source="Orphanet:79433"} +xref: icd11.foundation:1565320806 {source="MONDO:equivalentTo"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537189 {source="Orphanet:79433/e", source="Orphanet:79433"} xref: MESH:C537731 {source="Orphanet:79433/e", source="MONDO:equivalentTo", source="Orphanet:79433"} @@ -172676,6 +174039,7 @@ synonym: "PHP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:203330] synonym: "pseudohypoparathyroidism, type II" RELATED [MONDO:Lexical, OMIM:203330] xref: GARD:10682 {source="Orphanet:94090"} xref: ICD10CM:E20.1 {source="Orphanet:94090", source="Orphanet:94090/attributed", source="Orphanet:94090/ntbt"} +xref: icd11.foundation:1650158822 {source="MONDO:equivalentTo"} xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C548077 {source="MONDO:equivalentTo", source="Orphanet:94090", source="Orphanet:94090/e"} xref: OMIM:203330 {source="MONDO:equivalentTo", source="Orphanet:94090", source="Orphanet:94090/e"} @@ -172768,6 +174132,7 @@ synonym: "megalencephaly in infancy accompanied by progressive spasticity and de xref: DOID:4252 {source="MONDO:equivalentTo"} xref: GARD:5774 {source="Orphanet:58"} xref: ICD10CM:E75.2 {source="Orphanet:58/attributed", source="Orphanet:58/ntbt", source="Orphanet:58"} +xref: icd11.foundation:2023359698 {source="MONDO:equivalentTo"} xref: icd11.foundation:2023359698 {source="Orphanet:58", source="MONDO:equivalentTo"} xref: MESH:D038261 {source="Orphanet:58", source="MONDO:equivalentTo", source="Orphanet:58/e", source="DOID:4252"} xref: NCIT:C84545 {source="MONDO:equivalentTo", source="DOID:4252"} @@ -172806,6 +174171,7 @@ xref: DOID:9270 {source="MONDO:equivalentTo"} xref: GARD:5775 {source="Orphanet:56"} xref: ICD10CM:E70.2 {source="Orphanet:56/inclusion", source="Orphanet:56", source="Orphanet:56/ntbt"} xref: ICD10CM:E70.29 {source="DOID:9270"} +xref: icd11.foundation:1761652827 {source="MONDO:equivalentTo"} xref: icd11.foundation:1761652827 {source="Orphanet:56", source="MONDO:equivalentTo"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10001689 {source="Orphanet:56", source="Orphanet:56/e"} @@ -173575,6 +174941,7 @@ synonym: "subepithelial amyloidosis of the cornea" EXACT [DOID:0060449, Orphanet xref: DOID:0060449 {source="MONDO:equivalentTo"} xref: GARD:9647 {source="Orphanet:98957"} xref: ICD10CM:H18.5 {source="Orphanet:98957", source="Orphanet:98957/attributed", source="Orphanet:98957/ntbt"} +xref: icd11.foundation:1062815669 {source="MONDO:equivalentTo"} xref: MESH:C535480 {source="MONDO:equivalentTo", source="Orphanet:98957", source="DOID:0060449", source="Orphanet:98957/e"} xref: NCIT:C142805 {source="MONDO:equivalentTo"} xref: OMIM:204870 {source="GARD:0009647", source="MONDO:equivalentTo", source="Orphanet:98957", source="DOID:0060449", source="Orphanet:98957/e"} @@ -174007,6 +175374,7 @@ synonym: "total anodontia of permanent and deciduous teeth" EXACT [DOID:13714] xref: DOID:13714 {source="MONDO:equivalentTo"} xref: GARD:5818 {source="Orphanet:99797"} xref: ICD10CM:K00.0 {source="Orphanet:99797", source="DOID:13714", source="MONDO:equivalentTo", source="Orphanet:99797/e", source="Orphanet:99797/specific"} +xref: icd11.foundation:413433873 {source="MONDO:equivalentTo"} xref: icd11.foundation:413433873 {source="Orphanet:99797", source="MONDO:equivalentTo"} xref: ICD9:520.0 {source="DOID:13714"} xref: MedDRA:10002583 {source="Orphanet:99797", source="Orphanet:99797/e"} @@ -174169,6 +175537,7 @@ xref: DOID:0050462 {source="MONDO:equivalentTo"} xref: DOID:0081289 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:5826 {source="Orphanet:83"} xref: ICD10CM:Q87.0 {source="Orphanet:83/attributed", source="Orphanet:83/ntbt", source="Orphanet:83"} +xref: icd11.foundation:2027710139 {source="MONDO:equivalentTo"} xref: MESH:C537780 {source="Orphanet:83/e", source="Orphanet:83"} xref: MESH:D054882 {source="DOID:0050462"} xref: NORD:792 {source="MONDO:NORD"} @@ -174304,6 +175673,7 @@ synonym: "hyperlipoproteinemia, type IB" EXACT [GARD:0000759, https://orcid.org/ xref: DOID:0111418 {source="MONDO:equivalentTo"} xref: GARD:759 {source="Orphanet:309020"} xref: ICD10CM:E78.3 {source="Orphanet:309020/attributed", source="Orphanet:309020/ntbt", source="Orphanet:309020"} +xref: icd11.foundation:877401371 {source="MONDO:equivalentTo"} xref: OMIM:207750 {source="Orphanet:309020", source="MONDO:equivalentTo", source="Orphanet:309020/e"} xref: Orphanet:309020 {source="OMIM:207750", source="MONDO:equivalentTo"} xref: Orphanet:411 {source="OMIM:207750"} @@ -174332,6 +175702,7 @@ synonym: "XK-aprosencephaly" EXACT [Orphanet:3469] synonym: "XK-aprosencephaly syndrome" RELATED [GARD:0000424] xref: GARD:424 {source="Orphanet:3469"} xref: ICD10CM:Q04.3 {source="Orphanet:3469", source="Orphanet:3469/ntbt"} +xref: icd11.foundation:1805259428 {source="MONDO:equivalentTo"} xref: MESH:C536767 {source="MONDO:equivalentTo", source="Orphanet:3469", source="Orphanet:3469/e"} xref: OMIM:207770 {source="MONDO:equivalentTo", source="Orphanet:3469", source="Orphanet:3469/e"} xref: Orphanet:3469 {source="MONDO:equivalentTo", source="OMIM:207770"} @@ -174356,6 +175727,7 @@ synonym: "acrorenal Field defect, ectodermal dysplasia, and lipoatrophic diabete synonym: "AREDYLD" RELATED ABBREVIATION [OMIM:207780] xref: GARD:8509 {source="Orphanet:1133"} xref: ICD10CM:Q87.8 {source="Orphanet:1133/attributed", source="Orphanet:1133/ntbt", source="Orphanet:1133"} +xref: icd11.foundation:2007371732 {source="MONDO:equivalentTo"} xref: ICD9:753.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537427 {source="Orphanet:1133", source="MONDO:equivalentTo", source="Orphanet:1133/e"} xref: OMIM:207780 {source="Orphanet:1133", source="MONDO:equivalentTo", source="Orphanet:1133/e"} @@ -174450,6 +175822,7 @@ synonym: "urea cycle disorder, arginino succinase type" RELATED [GARD:0005843] xref: DOID:14755 {source="MONDO:equivalentTo"} xref: GARD:5843 {source="Orphanet:23"} xref: ICD10CM:E72.2 {source="Orphanet:23/inclusion", source="Orphanet:23", source="Orphanet:23/ntbt"} +xref: icd11.foundation:439383288 {source="MONDO:equivalentTo"} xref: icd11.foundation:439383288 {source="Orphanet:23", source="MONDO:equivalentTo"} xref: MedDRA:10058299 {source="Orphanet:23", source="Orphanet:23/e"} xref: MESH:D056807 {source="Orphanet:23", source="MONDO:equivalentTo", source="Orphanet:23/e", source="DOID:14755"} @@ -174540,6 +175913,7 @@ xref: DOID:0050645 {source="MONDO:equivalentTo"} xref: GARD:774 {source="Orphanet:3342"} xref: ICD10CM:I77.1 {source="Orphanet:3342", source="Orphanet:3342/attributed", source="Orphanet:3342/ntbt"} xref: ICD10CM:Q87.82 {source="MONDO:equivalentTo"} +xref: icd11.foundation:371764699 {source="MONDO:equivalentTo"} xref: MESH:C565942 {source="MONDO:equivalentTo"} xref: NORD:803 {source="MONDO:NORD"} xref: OMIM:208050 {source="Orphanet:3342", source="DOID:0050645", source="MONDO:equivalentTo", source="Orphanet:3342/e"} @@ -174727,6 +176101,7 @@ synonym: "spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome" E xref: DOID:0090004 {source="MONDO:equivalentTo"} xref: GARD:9184 {source="Orphanet:1159"} xref: ICD10CM:Q77.7 {source="Orphanet:1159", source="DOID:0090004", source="Orphanet:1159/attributed", source="Orphanet:1159/ntbt"} +xref: icd11.foundation:280808713 {source="MONDO:equivalentTo"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535387 {source="MONDO:equivalentTo", source="Orphanet:1159", source="Orphanet:1159/e"} xref: OMIM:208230 {source="MONDO:equivalentTo", source="Orphanet:1159", source="DOID:0090004", source="Orphanet:1159/e"} @@ -174793,6 +176168,7 @@ synonym: "ascites, chylous" RELATED [OMIM:208300] synonym: "congenital chylous ascites" RELATED [GARD:0001359] xref: GARD:1359 {source="Orphanet:1160"} xref: ICD10CM:I89.8 {source="Orphanet:1160/ntbt", source="Orphanet:1160"} +xref: icd11.foundation:768846885 {source="MONDO:equivalentTo"} xref: icd11.foundation:768846885 {source="MONDO:equivalentTo", source="Orphanet:1160"} xref: ICD9:457.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10003446 {source="Orphanet:1160/e", source="Orphanet:1160"} @@ -174827,6 +176203,7 @@ synonym: "glycosylasparaginase deficiency" EXACT [DOID:0050461, OMIM:208400] xref: DOID:0050461 {source="MONDO:equivalentTo"} xref: GARD:5854 {source="Orphanet:93"} xref: ICD10CM:E77.1 {source="Orphanet:93/attributed", source="Orphanet:93/ntbt", source="Orphanet:93", source="DOID:0050461"} +xref: icd11.foundation:2143470200 {source="MONDO:equivalentTo"} xref: MedDRA:10068220 {source="Orphanet:93/e", source="Orphanet:93"} xref: MESH:C538402 {source="Orphanet:93/e", source="Orphanet:93"} xref: MESH:D054880 {source="Orphanet:93/e", source="MONDO:equivalentTo", source="Orphanet:93", source="DOID:0050461"} @@ -174994,6 +176371,7 @@ synonym: "Reardon Wilson Cavanagh syndrome" RELATED [GARD:0004644] synonym: "Reardon-Baraitser syndrome" EXACT [Orphanet:1188] xref: GARD:4644 {source="Orphanet:1188"} xref: ICD10CM:G11.1 {source="Orphanet:1188/attributed", source="Orphanet:1188/ntbt", source="Orphanet:1188"} +xref: icd11.foundation:2133046984 {source="MONDO:equivalentTo"} xref: MESH:C535295 {source="MONDO:equivalentTo"} xref: OMIM:208850 {source="Orphanet:1188", source="MONDO:equivalentTo", source="Orphanet:1188/e"} xref: Orphanet:1188 {source="OMIM:208850", source="MONDO:equivalentTo"} @@ -175220,6 +176598,7 @@ synonym: "A-V dissociation" RELATED [OMIM:209600] synonym: "atrioventricular dissociation" EXACT [MONDO:ambiguous, OMIM:209600] synonym: "atrioventricular dissociation (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0011709 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:268503599 {source="MONDO:equivalentTo"} xref: ICD9:426.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D006327 {source="MONDO:equivalentTo"} xref: OMIM:209600 {source="MONDO:equivalentTo"} @@ -175315,6 +176694,7 @@ synonym: "hypertrichosis-atrophic skin-ectropion-macrostomia syndrome" EXACT [Or xref: DOID:0060549 {source="MONDO:equivalentTo"} xref: GARD:819 {source="Orphanet:1231"} xref: ICD10CM:Q87.0 {source="Orphanet:1231", source="Orphanet:1231/attributed", source="Orphanet:1231/ntbt"} +xref: icd11.foundation:37248895 {source="MONDO:equivalentTo"} xref: MESH:C537908 {source="Orphanet:1231", source="MONDO:equivalentTo", source="Orphanet:1231/e", source="DOID:0060549"} xref: NORD:875 {source="MONDO:NORD"} xref: OMIM:209885 {source="GARD:0000819", source="Orphanet:1231", source="MONDO:equivalentTo", source="Orphanet:1231/e", source="DOID:0060549"} @@ -175770,6 +177150,7 @@ synonym: "non-syndromic biliary atresia" EXACT [Orphanet:30391] xref: DOID:13608 {source="MONDO:equivalentTo"} xref: GARD:12010 {source="Orphanet:30391"} xref: ICD10CM:Q44.2 {source="Orphanet:30391/e", source="DOID:13608", source="Orphanet:30391"} +xref: icd11.foundation:645741117 {source="MONDO:equivalentTo"} xref: icd11.foundation:645741117 {source="MONDO:equivalentTo", source="Orphanet:30391"} xref: ICD9:751.61 {source="DOID:13608", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10003650 {source="Orphanet:30391/e", source="Orphanet:30391"} @@ -176021,6 +177402,7 @@ synonym: "microcephaly, growth restriction, and increased sister chromatid excha xref: DOID:2717 {source="MONDO:equivalentTo"} xref: GARD:915 {source="Orphanet:125"} xref: ICD10CM:Q82.2 {source="Orphanet:125", source="Orphanet:125/index", source="Orphanet:125/ntbt", source="MONDO:directSiblingOf"} +xref: icd11.foundation:1838213890 {source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D001816 {source="Orphanet:125", source="MONDO:equivalentTo", source="Orphanet:125/e", source="DOID:2717"} xref: NCIT:C2903 {source="MONDO:equivalentTo", source="DOID:2717"} @@ -176058,6 +177440,7 @@ synonym: "familial hypercalcemia-nephrocalcinosis-indicanuria syndrome" EXACT [O synonym: "hypercalcemia, familial, with nephrocalcinosis and indicanuria" RELATED [OMIM:211000] xref: GARD:5939 {source="Orphanet:94086"} xref: ICD10CM:E70.8 {source="Orphanet:94086/ntbt", source="Orphanet:94086/inclusion", source="Orphanet:94086"} +xref: icd11.foundation:292681007 {source="MONDO:equivalentTo"} xref: MESH:C536239 {source="Orphanet:94086/e", source="MONDO:equivalentTo", source="Orphanet:94086"} xref: NORD:864 {source="MONDO:NORD"} xref: OMIM:211000 {source="Orphanet:94086/e", source="MONDO:equivalentTo", source="Orphanet:94086"} @@ -176114,6 +177497,7 @@ synonym: "BWCNS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:211180] xref: DOID:0050684 {source="MONDO:equivalentTo"} xref: GARD:5950 {source="Orphanet:1270"} xref: ICD10CM:Q87.8 {source="Orphanet:1270/attributed", source="Orphanet:1270/ntbt", source="Orphanet:1270"} +xref: icd11.foundation:1713786719 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537081 {source="Orphanet:1270/e", source="MONDO:equivalentTo", source="Orphanet:1270"} xref: NORD:869 {source="MONDO:NORD"} @@ -176156,6 +177540,7 @@ synonym: "bowing, congenital, with short bones" RELATED [OMIM:211350] synonym: "congenital bowing with short bones" RELATED [GARD:0010149] synonym: "kyphomelic dysplasia" EXACT [OMIM:211350] xref: GARD:10149 {source="Orphanet:1801"} +xref: icd11.foundation:268821879 {source="MONDO:equivalentTo"} xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538128 {source="Orphanet:1801/e", source="MONDO:equivalentTo", source="Orphanet:1801"} xref: OMIM:211350 {source="Orphanet:1801/e", source="MONDO:equivalentTo", source="Orphanet:1801"} @@ -176181,6 +177566,7 @@ xref: ICD10CM:Q68.3 {source="Orphanet:2292/specific", source="Orphanet:2292", so xref: ICD10CM:Q68.4 {source="Orphanet:2292/specific", source="Orphanet:2292", source="Orphanet:2292/btnt"} xref: ICD10CM:Q68.5 {source="Orphanet:2292/specific", source="Orphanet:2292", source="Orphanet:2292/btnt"} xref: ICD10CM:Q68.8 {source="Orphanet:2292/specific", source="Orphanet:2292", source="Orphanet:2292/btnt"} +xref: icd11.foundation:1261565213 {source="MONDO:equivalentTo"} xref: MedDRA:10054064 {source="Orphanet:2292/e", source="Orphanet:2292"} xref: OMIM:211355 {source="Orphanet:2292/e", source="MONDO:equivalentTo", source="Orphanet:2292"} xref: Orphanet:2292 {source="MONDO:equivalentTo", source="OMIM:211355"} @@ -176272,6 +177658,7 @@ synonym: "brittle hair syndrome, Sabinas type" EXACT [Orphanet:3123] synonym: "Sabinas brittle hair syndrome" EXACT [OMIM:211390] synonym: "Sabinas syndrome" RELATED [GARD:0000313] xref: DOID:0111874 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1722502589 {source="MONDO:equivalentTo"} xref: MESH:C536320 {source="MONDO:equivalentTo"} xref: OMIM:211390 {source="MONDO:equivalentTo"} xref: Orphanet:3123 {source="MONDO:equivalentObsolete", source="OMIM:211390"} @@ -176313,6 +177700,7 @@ synonym: "tracheobronchomalacia" RELATED [GARD:0007791] synonym: "Williams-Campbell syndrome" EXACT [OMIM:211450] xref: GARD:21731 {source="Orphanet:411501"} xref: ICD10CM:Q33.4 {source="Orphanet:411501/ntbt", source="Orphanet:411501"} +xref: icd11.foundation:766574679 {source="MONDO:equivalentTo"} xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:211450 {source="MONDO:equivalentTo"} xref: Orphanet:411501 {source="MONDO:equivalentTo"} @@ -176345,6 +177733,7 @@ xref: DOID:12918 {source="EFO:1001211", source="MONDO:equivalentTo"} xref: EFO:1001211 {source="MONDO:equivalentTo"} xref: GARD:5969 {source="Orphanet:36258"} xref: ICD10CM:I73.1 {source="EFO:1001211", source="Orphanet:36258/e", source="DOID:12918", source="Orphanet:36258"} +xref: icd11.foundation:1000683110 {source="MONDO:equivalentTo"} xref: icd11.foundation:1000683110 {source="MONDO:equivalentTo", source="Orphanet:36258"} xref: ICD9:443.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12918"} xref: MedDRA:10043540 {source="EFO:1001211"} @@ -176376,6 +177765,7 @@ synonym: "progressive bulbar atrophy" RELATED [GARD:0010928] xref: DOID:681 {source="EFO:0003783", source="MONDO:equivalentTo"} xref: EFO:0003783 {source="MONDO:equivalentTo"} xref: ICD10CM:G12.22 {source="MONDO:equivalentTo", source="DOID:681"} +xref: icd11.foundation:1143049440 {source="MONDO:equivalentTo"} xref: ICD9:335.22 {source="EFO:0003783", source="DOID:681"} xref: MESH:D010244 {source="EFO:0003783", source="MONDO:equivalentTo", source="DOID:681"} xref: NCIT:C85026 {source="EFO:0003783", source="MONDO:equivalentTo", source="DOID:681"} @@ -176453,6 +177843,7 @@ synonym: "severe ATP8B1 deficiency" RELATED [GARD:0009802] xref: DOID:0070226 {source="MONDO:equivalentTo"} xref: GARD:9802 {source="Orphanet:79306"} xref: ICD10CM:K76.8 {source="Orphanet:79306", source="Orphanet:79306/attributed", source="Orphanet:79306/ntbt"} +xref: icd11.foundation:1414850183 {source="MONDO:equivalentTo"} xref: MESH:C535933 {source="Orphanet:79306", source="Orphanet:79306/e"} xref: OMIM:211600 {source="Orphanet:79306", source="GARD:0009802", source="MONDO:equivalentTo", source="Orphanet:79306/e"} xref: Orphanet:172 {source="OMIM:211600"} @@ -176482,6 +177873,7 @@ synonym: "trigonocephaly syndrome" RELATED [OMIM:211750] xref: DOID:0111581 {source="MONDO:equivalentTo"} xref: GARD:5978 {source="Orphanet:1308"} xref: ICD10CM:Q87.8 {source="Orphanet:1308/attributed", source="Orphanet:1308/ntbt", source="Orphanet:1308"} +xref: icd11.foundation:1482041278 {source="MONDO:equivalentTo"} xref: MESH:C537418 {source="MONDO:equivalentTo"} xref: NORD:882 {source="MONDO:NORD"} xref: OMIM:211750 {source="Orphanet:1308/e", source="MONDO:equivalentTo", source="Orphanet:1308"} @@ -176564,6 +177956,7 @@ synonym: "cervical lymphocele with bowed long bones" RELATED [OMIM:211890] synonym: "Cumming syndrome" RELATED [OMIM:211890] xref: GARD:1061 {source="Orphanet:1318"} xref: ICD10CM:Q87.8 {source="Orphanet:1318", source="Orphanet:1318/attributed", source="Orphanet:1318/ntbt"} +xref: icd11.foundation:152223075 {source="MONDO:equivalentTo"} xref: MESH:C537966 {source="Orphanet:1318/e", source="MONDO:equivalentTo", source="Orphanet:1318"} xref: OMIM:211890 {source="Orphanet:1318/e", source="MONDO:equivalentTo", source="Orphanet:1318"} xref: Orphanet:1318 {source="OMIM:211890", source="MONDO:equivalentTo"} @@ -177081,6 +178474,7 @@ synonym: "carnitine-acylcarnitine translocase deficiency" EXACT CLINGEN_LABEL [M xref: DOID:0111585 {source="MONDO:equivalentTo"} xref: GARD:1123 {source="Orphanet:159"} xref: ICD10CM:E71.3 {source="Orphanet:159", source="Orphanet:159/attributed", source="Orphanet:159/ntbt"} +xref: icd11.foundation:677949122 {source="MONDO:equivalentTo"} xref: MESH:C562812 {source="MONDO:equivalentTo"} xref: NCIT:C133086 {source="MONDO:equivalentTo"} xref: OMIM:212138 {source="Orphanet:159", source="MONDO:equivalentTo", source="Orphanet:159/e"} @@ -177237,6 +178631,7 @@ xref: DOID:0111245 {source="MONDO:equivalentTo"} xref: GARD:1139 {source="Orphanet:1366"} xref: ICD10CM:Q82.8 {source="Orphanet:1366/attributed", source="Orphanet:1366/ntbt", source="Orphanet:1366"} xref: ICD10CM:Q84.0 {source="Orphanet:1366/attributed", source="Orphanet:1366/ntbt", source="Orphanet:1366"} +xref: icd11.foundation:1733151457 {source="MONDO:equivalentTo"} xref: MESH:C535336 {source="Orphanet:1366", source="MONDO:equivalentTo", source="Orphanet:1366/e"} xref: OMIM:212360 {source="Orphanet:1366", source="MONDO:equivalentTo", source="Orphanet:1366/e"} xref: Orphanet:1366 {source="OMIM:212360", source="MONDO:equivalentTo"} @@ -177770,6 +179165,7 @@ xref: DOID:0060230 {source="MONDO:equivalentTo"} xref: GARD:6406 {source="Orphanet:1980"} xref: HP:0002135 {source="DOID:0060230", source="MONDO:otherHierarchy"} xref: ICD10CM:G23.8 {source="Orphanet:1980/ntbt", source="Orphanet:1980", source="Orphanet:1980/inclusion"} +xref: icd11.foundation:1081370436 {source="MONDO:equivalentTo"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:348.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10059626 {source="Orphanet:1980", source="Orphanet:1980/e"} @@ -177802,6 +179198,7 @@ synonym: "sterol 27-hydroxylase deficiency" EXACT [Orphanet:909] xref: DOID:4810 {source="MONDO:equivalentTo"} xref: GARD:5622 {source="Orphanet:909"} xref: ICD10CM:E75.5 {source="Orphanet:909/ntbt", source="Orphanet:909/inclusion", source="Orphanet:909"} +xref: icd11.foundation:1556875179 {source="MONDO:equivalentTo"} xref: MESH:D019294 {source="Orphanet:909/e", source="MONDO:equivalentTo", source="DOID:4810", source="Orphanet:909"} xref: NCIT:C84628 {source="MONDO:equivalentTo", source="DOID:4810"} xref: NORD:915 {source="MONDO:NORD"} @@ -178053,6 +179450,7 @@ synonym: "GDAP1 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, xref: DOID:0110185 {source="MONDO:equivalentTo"} xref: GARD:1252 {source="Orphanet:99948"} xref: ICD10CM:G60.0 {source="DOID:0110185", source="Orphanet:99948", source="Orphanet:99948/attributed", source="Orphanet:99948/ntbt"} +xref: icd11.foundation:1476665103 {source="MONDO:equivalentTo"} xref: MESH:C535419 {source="MONDO:equivalentTo", source="Orphanet:99948", source="Orphanet:99948/e"} xref: OMIM:214400 {source="MONDO:equivalentTo", source="DOID:0110185", source="Orphanet:99948", source="Orphanet:99948/e"} xref: Orphanet:99948 {source="MONDO:equivalentTo", source="OMIM:214400", source="DOID:0110185"} @@ -178091,6 +179489,7 @@ synonym: "pigmentary dilution of the skin and hair, the presence of large clumps xref: DOID:0060832 {source="MONDO:equivalentTo"} xref: GARD:2566 {source="Orphanet:79476"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="DOID:0060832", source="Orphanet:79476/attributed", source="Orphanet:79476/ntbt", source="Orphanet:79476"} +xref: icd11.foundation:875700770 {source="MONDO:equivalentTo"} xref: MESH:C537301 {source="Orphanet:79476/e", source="MONDO:equivalentTo", source="DOID:0060832", source="Orphanet:79476"} xref: OMIM:214450 {source="Orphanet:79476/e", source="MONDO:equivalentTo", source="DOID:0060832", source="Orphanet:79476"} xref: Orphanet:381 {source="OMIM:214450"} @@ -178219,6 +179618,7 @@ xref: DOID:0050834 {source="MONDO:equivalentTo"} xref: GARD:29 {source="Orphanet:138"} xref: ICD10CM:Q87.8 {source="Orphanet:138/attributed", source="Orphanet:138/ntbt", source="Orphanet:138"} xref: ICD10CM:Q89.8 {source="DOID:0050834"} +xref: icd11.foundation:52086532 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10064063 {source="Orphanet:138", source="Orphanet:138/e"} xref: MESH:D058747 {source="Orphanet:138", source="MONDO:equivalentTo", source="DOID:0050834", source="Orphanet:138/e"} @@ -178411,6 +179811,7 @@ synonym: "rhizomelic chondrodysplasia punctata, type 1" EXACT [MONDO:Lexical, OM xref: DOID:0110851 {source="MONDO:equivalentTo"} xref: GARD:6049 {source="Orphanet:309789"} xref: ICD10CM:Q77.3 {source="Orphanet:309789/attributed", source="Orphanet:309789/ntbt", source="DOID:0110851", source="Orphanet:309789"} +xref: icd11.foundation:44503513 {source="MONDO:equivalentTo"} xref: OMIM:215100 {source="Orphanet:309789/e", source="MONDO:equivalentTo", source="DOID:0110851", source="Orphanet:309789"} xref: Orphanet:177 {source="OMIM:215100"} xref: Orphanet:309789 {source="OMIM:215100", source="MONDO:equivalentTo", source="DOID:0110851"} @@ -178438,6 +179839,7 @@ synonym: "chondrodysplasia punctata syndrome" RELATED [OMIM:215105] synonym: "Toriello-Higgins-Miller syndrome" EXACT [Orphanet:79347] xref: GARD:16716 {source="Orphanet:79347"} xref: ICD10CM:Q77.3 {source="Orphanet:79347", source="Orphanet:79347/attributed", source="Orphanet:79347/ntbt"} +xref: icd11.foundation:1167798993 {source="MONDO:equivalentTo"} xref: MESH:C565853 {source="MONDO:equivalentTo"} xref: OMIM:215105 {source="Orphanet:79347", source="MONDO:equivalentTo", source="Orphanet:79347/e"} xref: Orphanet:79347 {source="MONDO:equivalentTo", source="OMIM:215105"} @@ -178471,6 +179873,7 @@ synonym: "skeletal dysplasia, Greenberg type" EXACT [Orphanet:1426] xref: DOID:0111588 {source="MONDO:equivalentTo"} xref: GARD:8754 {source="Orphanet:1426"} xref: ICD10CM:Q77.3 {source="Orphanet:1426", source="Orphanet:1426/attributed", source="Orphanet:1426/ntbt"} +xref: icd11.foundation:1858458540 {source="MONDO:equivalentTo"} xref: MESH:C535858 {source="MONDO:equivalentTo"} xref: MESH:C537299 {source="Orphanet:1426", source="Orphanet:1426/e"} xref: OMIM:215140 {source="MONDO:equivalentTo", source="Orphanet:1426", source="Orphanet:1426/e"} @@ -178507,6 +179910,7 @@ synonym: "otospondylomegaepiphyseal dysplasia" EXACT CLINGEN_LABEL [MONDO:Lexica xref: DOID:0080026 {source="MONDO:equivalentTo"} xref: GARD:4130 {source="Orphanet:1427"} xref: ICD10CM:Q77.7 {source="Orphanet:1427/attributed", source="Orphanet:1427/ntbt", source="Orphanet:1427"} +xref: icd11.foundation:1885284987 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIMPS:184840 {source="MONDO:equivalentTo"} xref: Orphanet:1427 {source="MONDO:equivalentTo", source="OMIM:215150"} @@ -178592,6 +179996,7 @@ synonym: "susceptibility to chordoma" RELATED [OMIM:215400] xref: DOID:3302 {source="MONDO:equivalentTo"} xref: GARD:1303 {source="Orphanet:178"} xref: HP:0010762 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:898231522 {source="MONDO:equivalentTo"} xref: ICDO:9370/3 {source="NCIT:C2947"} xref: MedDRA:10008747 {source="Orphanet:178/e", source="Orphanet:178"} xref: MESH:D002817 {source="DOID:3302", source="Orphanet:178/e", source="MONDO:equivalentTo", source="Orphanet:178"} @@ -178698,6 +180103,7 @@ synonym: "choroidal dystrophy central areolar" RELATED [GARD:0010049] synonym: "choroidal dystrophy, central areolar, 1" RELATED [MONDO:Lexical, OMIM:215500] xref: GARD:10049 {source="Orphanet:75377"} xref: ICD10CM:H31.2 {source="Orphanet:75377", source="Orphanet:75377/ntbt", source="Orphanet:75377/inclusion"} +xref: icd11.foundation:2018537024 {source="MONDO:equivalentTo"} xref: ICD9:363.54 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:C535358 {source="Orphanet:75377", source="Orphanet:75377/e", source="MONDO:directSiblingOf"} xref: OMIMPS:215500 {source="MONDO:equivalentTo"} @@ -178873,6 +180279,7 @@ synonym: "Orocraniodigital Syndrome" EXACT [NORD:1531] synonym: "Orocraniodigital syndrome" EXACT [OMIM:216100, Orphanet:2319] xref: GARD:3060 {source="Orphanet:2319"} xref: ICD10CM:Q87.0 {source="Orphanet:2319", source="Orphanet:2319/attributed", source="Orphanet:2319/ntbt"} +xref: icd11.foundation:395922030 {source="MONDO:equivalentTo"} xref: MESH:C537690 {source="Orphanet:2319/e", source="MONDO:equivalentTo", source="Orphanet:2319"} xref: NORD:1531 {source="MONDO:NORD"} xref: OMIM:216100 {source="Orphanet:2319/e", source="MONDO:equivalentTo", source="Orphanet:2319"} @@ -178987,6 +180394,7 @@ synonym: "Cockayne syndrome type III" EXACT [Orphanet:90324] synonym: "Cockayne syndrome, type III" RELATED [OMIM:216411] xref: GARD:1417 {source="Orphanet:90324"} xref: ICD10CM:Q87.8 {source="Orphanet:90324/attributed", source="Orphanet:90324/ntbt", source="Orphanet:90324"} +xref: icd11.foundation:1401163130 {source="MONDO:equivalentTo"} xref: OMIM:216411 {source="MONDO:equivalentObsolete", source="OMIM:216400", source="Orphanet:90324/btnt", source="GARD:0001417", source="Orphanet:90324"} xref: Orphanet:191 {source="OMIM:216411"} xref: Orphanet:90324 {source="OMIM:216411", source="MONDO:equivalentTo", source="GARD:0001417"} @@ -179015,6 +180423,7 @@ synonym: "pepper syndrome" RELATED [OMIM:216550] xref: DOID:0111590 {source="MONDO:equivalentTo"} xref: GARD:6126 {source="Orphanet:193"} xref: ICD10CM:Q87.8 {source="Orphanet:193", source="Orphanet:193/attributed", source="Orphanet:193/ntbt"} +xref: icd11.foundation:1188737383 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10049066 {source="Orphanet:193", source="Orphanet:193/e"} xref: MESH:C536438 {source="MONDO:equivalentTo", source="Orphanet:193", source="Orphanet:193/e"} @@ -179047,6 +180456,7 @@ synonym: "inherited reactive perforating collagenosis" RELATED [GARD:0013331] synonym: "RPC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:216700] xref: GARD:13331 {source="Orphanet:79147"} xref: ICD10CM:L87.1 {source="Orphanet:79147/attributed", source="Orphanet:79147/ntbt", source="Orphanet:79147"} +xref: icd11.foundation:563155724 {source="MONDO:equivalentTo"} xref: MESH:C565687 {source="MONDO:equivalentTo"} xref: OMIM:216700 {source="Orphanet:79147/e", source="MONDO:equivalentTo", source="Orphanet:79147"} xref: Orphanet:79147 {source="MONDO:equivalentTo", source="OMIM:216700"} @@ -179138,6 +180548,7 @@ subset: rare synonym: "C1r/C1s deficiency" RELATED [OMIM:216950] synonym: "complement component C1r/C1s deficiency" EXACT [OMIM:216950] xref: GARD:15155 {source="OMIM:216950"} +xref: icd11.foundation:448435460 {source="MONDO:equivalentTo"} xref: NCIT:C119991 {source="MONDO:equivalentTo"} xref: OMIM:216950 {source="MONDO:equivalentTo"} xref: Orphanet:169147 {source="OMIM:216950"} @@ -179403,6 +180814,7 @@ synonym: "band-shaped keratopathy" EXACT [DOID:11164, ICD9CM:371.43] synonym: "corneal dystrophy, band-SHAPED" RELATED [OMIM:217500] xref: DOID:11164 {source="MONDO:equivalentTo"} xref: ICD10CM:H18.42 {source="DOID:11164"} +xref: icd11.foundation:184627034 {source="MONDO:equivalentTo"} xref: ICD9:371.43 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11164"} xref: MESH:C562399 {source="MONDO:equivalentTo", source="DOID:11164"} xref: NCIT:C118765 {source="MONDO:equivalentTo", source="DOID:11164"} @@ -179514,6 +180926,7 @@ xref: DOID:2565 {source="MONDO:equivalentTo"} xref: GARD:6953 {source="Orphanet:98969"} xref: ICD10CM:H18.5 {source="Orphanet:98969", source="Orphanet:98969/attributed", source="Orphanet:98969/ntbt"} xref: ICD10CM:H18.55 {source="DOID:2565", source="MONDO:equivalentTo"} +xref: icd11.foundation:791344343 {source="MONDO:equivalentTo"} xref: ICD9:371.55 {source="DOID:2565", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10025406 {source="Orphanet:98969", source="Orphanet:98969/e"} xref: MESH:C537834 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} @@ -179545,6 +180958,7 @@ synonym: "corpus callosum, agenesis of, with facial anomalies and ROBIN sequence synonym: "Toriello-Carey syndrome" EXACT [OMIM:217980] xref: GARD:5225 {source="Orphanet:3338"} xref: ICD10CM:Q87.8 {source="Orphanet:3338", source="Orphanet:3338/attributed", source="Orphanet:3338/ntbt"} +xref: icd11.foundation:147297969 {source="MONDO:equivalentTo"} xref: MESH:C563127 {source="MONDO:equivalentTo"} xref: OMIM:217980 {source="MONDO:equivalentTo", source="Orphanet:3338", source="Orphanet:3338/e"} xref: Orphanet:3338 {source="OMIM:217980", source="MONDO:equivalentTo"} @@ -179630,6 +181044,7 @@ xref: DOID:4367 {source="EFO:1000817", source="MONDO:equivalentTo"} xref: EFO:1000817 {source="MONDO:equivalentTo"} xref: GARD:433 {source="Orphanet:320"} xref: ICD10CM:E26.1 {source="DOID:0090121", source="Orphanet:320/attributed", source="Orphanet:320/ntbt", source="Orphanet:320"} +xref: icd11.foundation:1737310323 {source="MONDO:equivalentTo"} xref: ICD9:255.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537422 {source="Orphanet:320/e", source="DOID:0090121", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:320"} xref: MESH:D043204 {source="DOID:4367", source="Orphanet:320/e", source="EFO:1000817", source="DOID:0090121", source="MONDO:equivalentTo", source="Orphanet:320"} @@ -179671,6 +181086,7 @@ synonym: "myopathy, congenital, with excess of muscle spindles" RELATED [OMIM:21 xref: DOID:0050469 {source="MONDO:equivalentTo"} xref: GARD:1550 {source="Orphanet:3071"} xref: ICD10CM:Q87.8 {source="Orphanet:3071", source="Orphanet:3071/attributed", source="Orphanet:3071/ntbt"} +xref: icd11.foundation:1946512039 {source="MONDO:equivalentTo"} xref: ICD9:799.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10067380 {source="Orphanet:3071", source="Orphanet:3071/e"} xref: MESH:D056685 {source="DOID:0050469", source="MONDO:equivalentTo", source="Orphanet:3071", source="Orphanet:3071/e"} @@ -179765,6 +181181,7 @@ xref: DOID:0080032 {source="MONDO:equivalentTo"} xref: GARD:15156 {source="OMIM:218300"} xref: GARD:1567 {source="Orphanet:1513"} xref: ICD10CM:M85.2 {source="Orphanet:1513", source="Orphanet:1513/attributed", source="Orphanet:1513/ntbt"} +xref: icd11.foundation:505073582 {source="MONDO:equivalentTo"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562940 {source="MONDO:equivalentTo"} xref: NCIT:C131429 {source="MONDO:equivalentTo"} @@ -179796,6 +181213,7 @@ synonym: "Sensenbrenner syndrome" EXACT [MONDO:0000362, Orphanet:1515] xref: DOID:0050577 {source="MONDO:equivalentTo"} xref: GARD:359 {source="Orphanet:1515"} xref: ICD10CM:Q87.5 {source="Orphanet:1515/attributed", source="Orphanet:1515/ntbt", source="Orphanet:1515"} +xref: icd11.foundation:1588881145 {source="MONDO:equivalentTo"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C129305 {source="MONDO:equivalentTo"} xref: OMIMPS:218330 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} @@ -179912,6 +181330,7 @@ synonym: "Pfeiffer-type cardiocranial syndrome" RELATED [GARD:0008586] synonym: "sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis" EXACT [Orphanet:2872] xref: GARD:8586 {source="Orphanet:2872"} xref: ICD10CM:Q87.8 {source="Orphanet:2872", source="Orphanet:2872/attributed", source="Orphanet:2872/ntbt"} +xref: icd11.foundation:629231429 {source="MONDO:equivalentTo"} xref: MESH:C535578 {source="MONDO:equivalentTo"} xref: OMIM:218450 {source="Orphanet:2872", source="MONDO:equivalentTo", source="Orphanet:2872/e"} xref: Orphanet:2872 {source="MONDO:equivalentTo", source="OMIM:218450"} @@ -179970,6 +181389,7 @@ synonym: "craniosynostosis-radial aplasia syndrome" RELATED [OMIM:218600] xref: DOID:0050654 {source="MONDO:equivalentTo"} xref: GARD:1602 {source="Orphanet:1225"} xref: ICD10CM:Q75.0 {source="Orphanet:1225", source="Orphanet:1225/attributed", source="Orphanet:1225/ntbt"} +xref: icd11.foundation:1650688177 {source="MONDO:equivalentTo"} xref: MESH:C536788 {source="DOID:0050654", source="MONDO:equivalentTo", source="Orphanet:1225", source="Orphanet:1225/e"} xref: NORD:834 {source="MONDO:NORD"} xref: OMIM:218600 {source="DOID:0050654", source="MONDO:equivalentTo", source="Orphanet:1225", source="Orphanet:1225/e"} @@ -180033,6 +181453,7 @@ synonym: "Complex of anomalies involving the cranium and brain" RELATED [GARD:00 synonym: "craniotelencephalic dysplasia" EXACT [OMIM:218670] xref: GARD:1605 {source="Orphanet:1528"} xref: ICD10CM:Q04.3 {source="Orphanet:1528/attributed", source="Orphanet:1528/ntbt", source="Orphanet:1528"} +xref: icd11.foundation:1684038717 {source="MONDO:equivalentTo"} xref: MESH:C535597 {source="Orphanet:1528/e", source="MONDO:equivalentTo", source="Orphanet:1528"} xref: OMIM:218670 {source="Orphanet:1528/e", source="MONDO:equivalentTo", source="Orphanet:1528"} xref: Orphanet:1528 {source="MONDO:equivalentTo", source="OMIM:218670"} @@ -180084,6 +181505,7 @@ synonym: "UGT deficiency" EXACT [Orphanet:205] xref: DOID:3803 {source="MONDO:equivalentTo"} xref: GARD:16526 {source="Orphanet:205"} xref: ICD10CM:E80.5 {source="MONDO:equivalentTo", source="Orphanet:205/e", source="Orphanet:205/specific"} +xref: icd11.foundation:291439191 {source="MONDO:equivalentTo"} xref: icd11.foundation:291439191 {source="Orphanet:205", source="MONDO:equivalentTo"} xref: MedDRA:10011386 {source="Orphanet:205", source="Orphanet:205/e"} xref: MESH:D003414 {source="Orphanet:205", source="MONDO:equivalentTo", source="Orphanet:205/e", source="DOID:3803"} @@ -180145,6 +181567,7 @@ xref: DOID:0090001 {source="MONDO:equivalentTo"} xref: GARD:6465 {source="Orphanet:2052"} xref: ICD10CM:Q87.0 {source="DOID:0090001", source="Orphanet:2052/attributed", source="Orphanet:2052/ntbt", source="Orphanet:2052"} xref: icd11.foundation:968262849 {source="MONDO:equivalentTo", source="Orphanet:2052"} +xref: icd11.foundation:968262849 {source="MONDO:equivalentTo"} xref: MESH:D058497 {source="Orphanet:2052/e", source="MONDO:equivalentTo", source="Orphanet:2052"} xref: NCIT:C118436 {source="MONDO:equivalentTo"} xref: NORD:1160 {source="MONDO:NORD"} @@ -180176,6 +181599,7 @@ xref: DOID:11383 {source="EFO:0004562", source="MONDO:equivalentTo"} xref: EFO:0004562 {source="MONDO:equivalentTo"} xref: HP:0000028 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q53.9 {source="DOID:11383"} +xref: icd11.foundation:1134950387 {source="MONDO:equivalentTo"} xref: ICD9:752.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:752.51 {source="EFO:0004562", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11383"} xref: MESH:D003456 {source="EFO:0004562", source="MONDO:equivalentTo", source="DOID:11383"} @@ -180413,6 +181837,7 @@ synonym: "Van Lohuizen syndrome" RELATED [GARD:0006228] xref: GARD:6228 {source="Orphanet:1556"} xref: HP:0025107 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q82.8 {source="Orphanet:1556", source="Orphanet:1556/ntbt"} +xref: icd11.foundation:1359154853 {source="MONDO:equivalentTo"} xref: ICD9:757.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536226 {source="MONDO:equivalentTo", source="Orphanet:1556", source="Orphanet:1556/e"} xref: OMIM:219250 {source="MONDO:equivalentTo", source="Orphanet:1556", source="Orphanet:1556/e"} @@ -180465,6 +181890,7 @@ xref: DOID:0090142 {source="MONDO:equivalentTo"} xref: GARD:2428 {source="Orphanet:212"} xref: HP:0003153 {source="MONDO:otherHierarchy"} xref: ICD10CM:E72.1 {source="DOID:0090142", source="Orphanet:212/ntbt", source="Orphanet:212/inclusion", source="Orphanet:212"} +xref: icd11.foundation:1415819835 {source="MONDO:equivalentTo"} xref: MESH:C535408 {source="DOID:0090142", source="Orphanet:212/e", source="Orphanet:212"} xref: NCIT:C129070 {source="MONDO:equivalentTo"} xref: OMIM:219500 {source="DOID:0090142", source="Orphanet:212/e", source="MONDO:equivalentTo", source="Orphanet:212"} @@ -180516,6 +181942,7 @@ xref: ICD10CM:E84.1 {source="Orphanet:586/specific", source="Orphanet:586/btnt", xref: ICD10CM:E84.8 {source="Orphanet:586/specific", source="Orphanet:586/btnt", source="Orphanet:586"} xref: ICD10CM:E84.9 {source="Orphanet:586/specific", source="DOID:1485", source="Orphanet:586/btnt", source="Orphanet:586"} xref: icd11.foundation:514403112 {source="MONDO:equivalentTo", source="Orphanet:586"} +xref: icd11.foundation:514403112 {source="MONDO:equivalentTo"} xref: ICD9:277.0 {source="DOID:1485"} xref: MedDRA:10011762 {source="Orphanet:586/e", source="Orphanet:586"} xref: MESH:D003550 {source="DOID:1485", source="Orphanet:586/e", source="MONDO:equivalentTo", source="Orphanet:586"} @@ -180644,6 +182071,7 @@ xref: EFO:0009049 {source="MONDO:equivalentTo"} xref: GARD:17685 {source="Orphanet:411634"} xref: ICD10EXP:E72.0+ {source="Orphanet:411634/attributed", source="Orphanet:411634/ntbt", source="Orphanet:411634"} xref: ICD10EXP:N16.3* {source="Orphanet:411634/attributed", source="Orphanet:411634/ntbt", source="Orphanet:411634"} +xref: icd11.foundation:422905632 {source="MONDO:equivalentTo"} xref: MESH:C562683 {source="MONDO:equivalentTo"} xref: OMIM:219900 {source="Orphanet:411634", source="MONDO:equivalentTo", source="Orphanet:411634/e"} xref: Orphanet:213 {source="OMIM:219900"} @@ -180690,6 +182118,7 @@ xref: HP:0003131 {source="MONDO:otherHierarchy"} xref: ICD10CM:E72.0 {source="Orphanet:214", source="Orphanet:214/ntbt", source="Orphanet:214/inclusion"} xref: ICD10CM:E72.01 {source="DOID:9266"} xref: icd11.foundation:1237620397 {source="Orphanet:214", source="MONDO:equivalentTo"} +xref: icd11.foundation:1237620397 {source="MONDO:equivalentTo"} xref: MedDRA:10011778 {source="Orphanet:214", source="Orphanet:214/e"} xref: MESH:D003555 {source="Orphanet:214", source="MONDO:equivalentTo", source="Orphanet:214/e", source="DOID:9266"} xref: NCIT:C84664 {source="MONDO:equivalentTo", source="DOID:9266"} @@ -180839,6 +182268,7 @@ synonym: "Dalmatian hypouricemia" RELATED [OMIM:220150] synonym: "hypouricemia, renal" RELATED [GARD:0009496] synonym: "renal hypouricemia" RELATED [OMIM:220150] xref: GARD:9496 {source="Orphanet:94088"} +xref: icd11.foundation:479364233 {source="MONDO:equivalentTo"} xref: ICD9:790.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537757 {source="MONDO:equivalentTo"} xref: Orphanet:94088 {source="OMIM:220150", source="MONDO:equivalentTo"} @@ -181381,6 +182811,7 @@ synonym: "FranC'ois syndrome" EXACT [Orphanet:79149] synonym: "Francois syndrome" RELATED [OMIM:221800] synonym: "François syndrome" EXACT [Orphanet:79149] xref: GARD:1815 {source="Orphanet:79149"} +xref: icd11.foundation:1305138145 {source="MONDO:equivalentTo"} xref: ICD9:379.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535375 {source="MONDO:equivalentTo"} xref: OMIM:221800 {source="Orphanet:79149", source="MONDO:equivalentTo", source="Orphanet:79149/e"} @@ -181405,6 +182836,7 @@ synonym: "Dermatoosteolysis Kirghizian type" RELATED [GARD:0001814] synonym: "dermatoosteolysis, Kirghizian type" EXACT [OMIM:221810] synonym: "Kirghizian Dermatoosteolysis" RELATED [OMIM:221810] xref: GARD:1814 {source="Orphanet:1657"} +xref: icd11.foundation:2019080941 {source="MONDO:equivalentTo"} xref: MESH:C535373 {source="MONDO:equivalentTo", source="Orphanet:1657", source="Orphanet:1657/e"} xref: OMIM:221810 {source="MONDO:equivalentTo", source="Orphanet:1657", source="Orphanet:1657/e"} xref: Orphanet:1657 {source="MONDO:equivalentTo", source="OMIM:221810"} @@ -181657,6 +183089,7 @@ synonym: "split spinal cord malformation" RELATED [GARD:0001851] synonym: "SSCM" RELATED ABBREVIATION [GARD:0001851] xref: GARD:1851 {source="Orphanet:1671"} xref: ICD10CM:Q06.2 {source="Orphanet:1671", source="MONDO:equivalentTo", source="Orphanet:1671/e", source="Orphanet:1671/specific"} +xref: icd11.foundation:2070601288 {source="MONDO:equivalentTo"} xref: ICD9:742.51 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10012750 {source="Orphanet:1671", source="Orphanet:1671/e"} xref: NCIT:C98913 {source="MONDO:equivalentTo"} @@ -181684,6 +183117,7 @@ synonym: "DTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:222600] xref: DOID:14687 {source="MONDO:equivalentTo"} xref: GARD:6275 {source="Orphanet:628"} xref: ICD10CM:Q77.5 {source="MONDO:equivalentTo", source="Orphanet:628/specific", source="Orphanet:628", source="DOID:14687", source="Orphanet:628/e"} +xref: icd11.foundation:1681550532 {source="MONDO:equivalentTo"} xref: icd11.foundation:1681550532 {source="MONDO:equivalentTo", source="Orphanet:628"} xref: ICD9:756.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536170 {source="MONDO:equivalentTo", source="DOID:14687"} @@ -181716,6 +183150,7 @@ synonym: "dibasic amino aciduria I" RELATED [OMIM:222690] synonym: "dibasic amino aciduria type 1" EXACT [MONDORULE:1, OMIM:222690] synonym: "dibasic aminoaciduria 1" RELATED [GARD:0001854] xref: ICD10CM:E72.0 {source="Orphanet:1032", source="Orphanet:1032/attributed", source="Orphanet:1032/ntbt"} +xref: icd11.foundation:1522058907 {source="MONDO:equivalentTo"} xref: MESH:C567132 {source="MONDO:equivalentTo"} xref: OMIM:222690 {source="Orphanet:1032", source="MONDO:equivalentTo", source="Orphanet:1032/e"} xref: Orphanet:1032 {source="OMIM:222690", source="MONDO:equivalentObsolete"} @@ -181745,6 +183180,7 @@ synonym: "lysinuric protein intolerance" EXACT CLINGEN_LABEL [MONDO:Lexical, OMI xref: DOID:0060439 {source="MONDO:equivalentTo"} xref: GARD:3335 {source="Orphanet:470"} xref: ICD10CM:E72.0 {source="Orphanet:470", source="Orphanet:470/attributed", source="Orphanet:470/ntbt"} +xref: icd11.foundation:972050440 {source="MONDO:equivalentTo"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10058300 {source="Orphanet:470", source="Orphanet:470/e"} xref: MESH:C562687 {source="MONDO:equivalentTo", source="DOID:0060439"} @@ -181781,6 +183217,7 @@ synonym: "glutamate-aspartate transport defect" EXACT [DOID:0060650, Orphanet:21 xref: DOID:0060650 {source="MONDO:equivalentTo"} xref: GARD:1855 {source="Orphanet:2195"} xref: ICD10CM:E72.0 {source="DOID:0060650", source="Orphanet:2195/attributed", source="Orphanet:2195/ntbt", source="Orphanet:2195"} +xref: icd11.foundation:1947265216 {source="MONDO:equivalentTo"} xref: MESH:C536171 {source="Orphanet:2195/e", source="DOID:0060650", source="MONDO:equivalentTo", source="Orphanet:2195"} xref: OMIM:222730 {source="Orphanet:2195/e", source="DOID:0060650", source="MONDO:equivalentTo", source="Orphanet:2195"} xref: Orphanet:2195 {source="DOID:0060650", source="MONDO:equivalentTo", source="OMIM:222730"} @@ -181843,6 +183280,7 @@ synonym: "type 2 rhizomelic chondrodysplasia punctata" EXACT [GARD:0009429] xref: DOID:0110852 {source="MONDO:equivalentTo"} xref: GARD:9429 {source="Orphanet:309796"} xref: ICD10CM:Q77.3 {source="DOID:0110852", source="Orphanet:309796/attributed", source="Orphanet:309796/ntbt", source="Orphanet:309796"} +xref: icd11.foundation:179969811 {source="MONDO:equivalentTo"} xref: MESH:C537607 {source="MONDO:equivalentTo"} xref: OMIM:222765 {source="DOID:0110852", source="Orphanet:309796/e", source="MONDO:equivalentTo", source="Orphanet:309796"} xref: Orphanet:177 {source="OMIM:222765"} @@ -181925,6 +183363,7 @@ xref: DOID:0111633 {source="MONDO:equivalentTo"} xref: GARD:7710 {source="Orphanet:35122"} xref: ICD10CM:E74.3 {source="Orphanet:35122/inclusion", source="Orphanet:35122", source="Orphanet:35122/ntbt"} xref: icd11.foundation:1817406536 {source="MONDO:equivalentTo", source="Orphanet:35122"} +xref: icd11.foundation:1817406536 {source="MONDO:equivalentTo"} xref: ICD9:271.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10066387 {source="Orphanet:35122/e", source="Orphanet:35122"} xref: MESH:C538139 {source="Orphanet:35122/e", source="MONDO:equivalentTo", source="Orphanet:35122"} @@ -181964,6 +183403,7 @@ synonym: "lactase deficiency, congenital" RELATED [OMIM:223000] xref: DOID:0111646 {source="MONDO:equivalentTo"} xref: GARD:12311 {source="Orphanet:53690"} xref: ICD10CM:E73.0 {source="Orphanet:53690/e", source="Orphanet:53690/specific", source="MONDO:equivalentTo", source="Orphanet:53690"} +xref: icd11.foundation:2109252471 {source="MONDO:equivalentTo"} xref: icd11.foundation:2109252471 {source="MONDO:equivalentTo", source="Orphanet:53690"} xref: ICD9:271.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562600 {source="MONDO:equivalentTo"} @@ -182131,6 +183571,7 @@ synonym: "intrauterine growth retardation, short stature, microcephaly, mild men xref: DOID:14796 {source="MONDO:equivalentTo"} xref: GARD:6290 {source="Orphanet:235"} xref: ICD10CM:Q87.1 {source="Orphanet:235", source="Orphanet:235/ntbt", source="Orphanet:235/inclusion", source="DOID:14796"} +xref: icd11.foundation:758537040 {source="MONDO:equivalentTo"} xref: ICD9:742.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10059589 {source="Orphanet:235", source="Orphanet:235/e", source="DOID:14796"} xref: MESH:C535718 {source="Orphanet:235", source="MONDO:equivalentTo", source="Orphanet:235/e", source="DOID:14796"} @@ -182254,6 +183695,7 @@ synonym: "pseudo-Morquio disease type I" EXACT [DOID:0111167] xref: DOID:0111167 {source="MONDO:equivalentTo"} xref: GARD:6295 {source="Orphanet:239"} xref: ICD10CM:Q77.7 {source="Orphanet:239/attributed", source="Orphanet:239/ntbt", source="Orphanet:239"} +xref: icd11.foundation:21266164 {source="MONDO:equivalentTo"} xref: MESH:C535726 {source="Orphanet:239", source="Orphanet:239/e"} xref: NCIT:C124844 {source="MONDO:equivalentTo"} xref: NORD:1068 {source="MONDO:NORD"} @@ -182477,6 +183919,7 @@ subset: rare synonym: "dysosteosclerosis" EXACT [OMIM:224300] xref: GARD:2012 {source="Orphanet:1782"} xref: ICD10CM:Q78.8 {source="Orphanet:1782/attributed", source="Orphanet:1782/ntbt", source="Orphanet:1782"} +xref: icd11.foundation:1853176074 {source="MONDO:equivalentTo"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562973 {source="MONDO:equivalentTo"} xref: OMIM:224300 {source="Orphanet:1782", source="MONDO:equivalentTo", source="Orphanet:1782/e"} @@ -182504,6 +183947,7 @@ synonym: "dyssegmental dysplasia Rolland-Desbuquois type" RELATED [GARD:0009810] synonym: "dyssegmental dysplasia, Rolland-Desbuquois type" EXACT [OMIM:224400] xref: GARD:9810 {source="Orphanet:156731"} xref: ICD10CM:Q77.7 {source="Orphanet:156731/attributed", source="Orphanet:156731/ntbt", source="Orphanet:156731"} +xref: icd11.foundation:1291444727 {source="MONDO:equivalentTo"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537999 {source="Orphanet:156731", source="MONDO:equivalentTo", source="Orphanet:156731/e"} xref: OMIM:224400 {source="Orphanet:156731", source="MONDO:equivalentTo", source="Orphanet:156731/e"} @@ -182746,6 +184190,7 @@ subset: orphanet_rare {source="Orphanet:90339"} subset: rare subset: speculative synonym: "Rosselli-Gulienetti syndrome" EXACT [OMIM:225000] +xref: icd11.foundation:1430451924 {source="MONDO:equivalentTo"} xref: MESH:C563117 {source="MONDO:equivalentTo"} xref: OMIM:225000 {source="MONDO:equivalentTo"} xref: Orphanet:90339 {source="OMIM:225000", source="MONDO:equivalentObsolete", source="MONDO:obsolete"} @@ -183052,6 +184497,7 @@ synonym: "Ehlers-Danlos syndrome, CARDIAC valvular type" RELATED [OMIM:225320] xref: DOID:0080730 {source="MONDO:equivalentTo"} xref: GARD:12613 {source="Orphanet:230851"} xref: ICD10CM:Q79.6 {source="Orphanet:230851", source="Orphanet:230851/attributed", source="Orphanet:230851/ntbt"} +xref: icd11.foundation:531375176 {source="MONDO:equivalentTo"} xref: MESH:C536200 {source="MONDO:equivalentTo"} xref: OMIM:225320 {source="MONDO:equivalentTo", source="Orphanet:230851", source="Orphanet:230851/e"} xref: Orphanet:230851 {source="OMIM:225320", source="MONDO:equivalentTo"} @@ -183091,6 +184537,7 @@ synonym: "Ehlers-Danlos syndrome, type VII, autosomal recessive" RELATED [OMIM:2 xref: DOID:0080733 {source="MONDO:equivalentTo"} xref: GARD:2089 {source="Orphanet:1901"} xref: ICD10CM:Q79.6 {source="Orphanet:1901", source="Orphanet:1901/attributed", source="Orphanet:1901/ntbt"} +xref: icd11.foundation:445808781 {source="MONDO:equivalentTo"} xref: MESH:C567527 {source="MONDO:equivalentTo"} xref: OMIM:225410 {source="Orphanet:1901/e", source="MONDO:equivalentTo", source="Orphanet:1901"} xref: Orphanet:1901 {source="OMIM:225410", source="MONDO:equivalentTo"} @@ -183211,6 +184658,7 @@ synonym: "pontocerebellar hypoplasia, type 4" RELATED [MONDO:Lexical, OMIM:22575 xref: DOID:0060273 {source="MONDO:equivalentTo"} xref: GARD:343 {source="Orphanet:166063"} xref: ICD10CM:Q04.3 {source="Orphanet:166063/attributed", source="Orphanet:166063/ntbt", source="Orphanet:166063"} +xref: icd11.foundation:447667859 {source="MONDO:equivalentTo"} xref: MESH:C536716 {source="Orphanet:166063/e", source="MONDO:equivalentTo", source="DOID:0060273", source="Orphanet:166063"} xref: OMIM:225753 {source="Orphanet:166063/e", source="MONDO:equivalentTo", source="DOID:0060273", source="Orphanet:166063"} xref: Orphanet:166063 {source="MONDO:equivalentTo", source="OMIM:225753", source="DOID:0060273"} @@ -183298,6 +184746,7 @@ xref: EFO:0007251 {source="MONDO:equivalentTo"} xref: GARD:6336 {source="Orphanet:2022"} xref: ICD10CM:I42.4 {source="Orphanet:2022", source="MONDO:equivalentTo", source="Orphanet:2022/e", source="DOID:12929", source="Orphanet:2022/specific"} xref: icd11.foundation:1971033419 {source="Orphanet:2022", source="MONDO:equivalentTo"} +xref: icd11.foundation:1971033419 {source="MONDO:equivalentTo"} xref: ICD9:425.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12929"} xref: MedDRA:10014663 {source="Orphanet:2022", source="Orphanet:2022/e"} xref: MESH:D004695 {source="MONDO:equivalentTo", source="DOID:12929", source="EFO:0007251"} @@ -183394,6 +184843,7 @@ synonym: "protein-losing enteropathy (disease)" EXACT [https://orcid.org/0000-00 xref: DOID:10611 {source="MONDO:equivalentTo"} xref: GARD:15003 {source="Orphanet:566175"} xref: HP:0002243 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:1821383469 {source="MONDO:equivalentTo"} xref: ICD9:579.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D011504 {source="DOID:10611", source="MONDO:equivalentTo"} xref: OMIM:226300 {source="DOID:10611", source="MONDO:equivalentTo"} @@ -183454,6 +184904,7 @@ synonym: "Lutz-Lewandowsky epidermodysplasia verruciformis" EXACT [Orphanet:302] xref: DOID:13777 {source="MONDO:equivalentTo"} xref: GARD:6357 {source="Orphanet:302"} xref: ICD10CM:B07 {source="Orphanet:302", source="Orphanet:302/index", source="Orphanet:302/ntbt"} +xref: icd11.foundation:1191479808 {source="MONDO:equivalentTo"} xref: ICD9:078.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:757.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10052339 {source="Orphanet:302", source="Orphanet:302/e"} @@ -183690,6 +185141,7 @@ synonym: "junctional epidermolysis bullosa-pyloric atresia syndrome" EXACT [DOID xref: DOID:0060733 {source="MONDO:equivalentTo"} xref: GARD:9694 {source="Orphanet:79403"} xref: ICD10CM:Q81.8 {source="Orphanet:79403", source="Orphanet:79403/attributed", source="Orphanet:79403/ntbt", source="DOID:0060733"} +xref: icd11.foundation:1877890811 {source="MONDO:equivalentTo"} xref: MESH:C535377 {source="MONDO:equivalentTo"} xref: OMIM:226730 {source="Orphanet:79403", source="MONDO:equivalentTo", source="Orphanet:79403/e", source="DOID:0060733"} xref: Orphanet:79403 {source="OMIM:226730", source="MONDO:equivalentTo", source="DOID:0060733"} @@ -183823,6 +185275,7 @@ synonym: "SLC26A2 multiple epiphyseal dysplasia (disease)" EXACT [MONDO:patterns xref: DOID:0070300 {source="MONDO:equivalentTo"} xref: GARD:9793 {source="Orphanet:93307"} xref: ICD10CM:Q77.3 {source="MONDO:relatedTo", source="Orphanet:93307/attributed", source="Orphanet:93307/ntbt", source="Orphanet:93307"} +xref: icd11.foundation:1927114777 {source="MONDO:equivalentTo"} xref: MESH:C535504 {source="Orphanet:93307/e", source="MONDO:equivalentTo", source="Orphanet:93307"} xref: NORD:1881 {source="MONDO:NORD"} xref: OMIM:226900 {source="Orphanet:93307/e", source="MONDO:equivalentTo", source="Orphanet:93307"} @@ -183863,6 +185316,7 @@ synonym: "Lowry-Wood syndrome" EXACT [OMIM:226960] synonym: "LWS" EXACT ABBREVIATION [GARD:0000264] xref: GARD:264 {source="Orphanet:1824"} xref: ICD10CM:Q87.5 {source="Orphanet:1824", source="Orphanet:1824/attributed", source="Orphanet:1824/ntbt"} +xref: icd11.foundation:1713071905 {source="MONDO:equivalentTo"} xref: MedDRA:10062600 {source="Orphanet:1824/e", source="Orphanet:1824"} xref: MESH:C537038 {source="Orphanet:1824/e", source="MONDO:equivalentTo", source="Orphanet:1824"} xref: OMIM:226960 {source="Orphanet:1824/e", source="MONDO:equivalentTo", source="Orphanet:1824"} @@ -183897,6 +185351,7 @@ synonym: "WRS" EXACT ABBREVIATION [Orphanet:1667] xref: DOID:0090060 {source="MONDO:equivalentTo"} xref: GARD:5589 {source="Orphanet:1667"} xref: ICD10CM:E13 {source="Orphanet:1667", source="Orphanet:1667/attributed", source="Orphanet:1667/ntbt", source="DOID:0090060"} +xref: icd11.foundation:2096915129 {source="MONDO:equivalentTo"} xref: MESH:C536739 {source="MONDO:equivalentTo", source="Orphanet:1667", source="Orphanet:1667/e"} xref: NCIT:C131007 {source="MONDO:equivalentTo"} xref: OMIM:226980 {source="GARD:0005589", source="MONDO:equivalentTo", source="Orphanet:1667", source="DOID:0090060", source="Orphanet:1667/e"} @@ -183989,6 +185444,7 @@ synonym: "O'Doherty syndrome" EXACT [Orphanet:999] synonym: "pigmentary disorder with hearing loss" EXACT [OMIM:227010, Orphanet:999] xref: GARD:407 {source="Orphanet:999"} xref: ICD10CM:E70.3 {source="Orphanet:999/attributed", source="Orphanet:999/ntbt", source="MONDO:relatedTo", source="Orphanet:999"} +xref: icd11.foundation:2048725507 {source="MONDO:equivalentTo"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:82812 {source="UMLS:C0268501"} xref: MESH:C535508 {source="Orphanet:999", source="MONDO:equivalentTo", source="Orphanet:999/e"} @@ -184510,6 +185966,7 @@ synonym: "hepatorenal glycogenosis with renal fanconi syndrome" RELATED [GARD:00 synonym: "pseudo-phlorizin diabetes" RELATED [GARD:0002268, OMIM:227810] xref: GARD:2268 {source="Orphanet:2088"} xref: ICD10CM:E74.0 {source="Orphanet:2088", source="Orphanet:2088/attributed", source="Orphanet:2088/ntbt"} +xref: icd11.foundation:426701963 {source="MONDO:equivalentTo"} xref: OMIM:227810 {source="Orphanet:2088", source="GARD:0002268", source="MONDO:equivalentTo", source="Orphanet:2088/e"} xref: Orphanet:2088 {source="GARD:0002268", source="MONDO:equivalentTo", source="OMIM:227810"} xref: SCTID:61598006 {source="MONDO:equivalentTo"} @@ -184629,6 +186086,7 @@ synonym: "Ffu syndrome" RELATED [OMIM:228200] synonym: "PFFD" EXACT ABBREVIATION [Orphanet:2019] xref: GARD:2286 {source="Orphanet:2019"} xref: ICD10CM:Q74.8 {source="Orphanet:2019", source="Orphanet:2019/attributed", source="Orphanet:2019/ntbt"} +xref: icd11.foundation:353892894 {source="MONDO:equivalentTo"} xref: MedDRA:10068448 {source="Orphanet:2019", source="Orphanet:2019/e"} xref: MESH:C537918 {source="MONDO:equivalentTo", source="Orphanet:2019", source="Orphanet:2019/e"} xref: OMIM:228200 {source="MONDO:equivalentTo", source="Orphanet:2019", source="Orphanet:2019/e"} @@ -184963,6 +186421,7 @@ synonym: "Williams trait, included" RELATED [MESH:C537060] xref: DOID:0111676 {source="MONDO:equivalentTo"} xref: GARD:2684 {source="Orphanet:483"} xref: ICD10CM:D68.8 {source="Orphanet:483", source="Orphanet:483/attributed", source="Orphanet:483/ntbt"} +xref: icd11.foundation:453135247 {source="MONDO:equivalentTo"} xref: ICD9:286.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537060 {source="MONDO:equivalentTo"} xref: NCIT:C98946 {source="MONDO:equivalentTo"} @@ -185016,6 +186475,7 @@ subset: rare synonym: "FLECK retina of KANDORI" RELATED [OMIM:228990] xref: GARD:16900 {source="Orphanet:99179"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:99179/attributed", source="Orphanet:99179/ntbt", source="Orphanet:99179"} +xref: icd11.foundation:697904956 {source="MONDO:equivalentTo"} xref: MESH:C562701 {source="MONDO:equivalentTo"} xref: OMIM:228990 {source="Orphanet:99179/e", source="MONDO:equivalentTo", source="Orphanet:99179"} xref: Orphanet:99179 {source="MONDO:equivalentTo", source="OMIM:228990"} @@ -185063,6 +186523,7 @@ synonym: "folic acid transport defect" RELATED [GARD:0012983] xref: DOID:0111678 {source="MONDO:equivalentTo"} xref: GARD:12983 {source="Orphanet:90045"} xref: ICD10CM:D52.8 {source="Orphanet:90045", source="Orphanet:90045/attributed", source="Orphanet:90045/ntbt"} +xref: icd11.foundation:773545237 {source="MONDO:equivalentTo"} xref: MESH:C562799 {source="MONDO:equivalentTo"} xref: NCIT:C156424 {source="MONDO:equivalentTo"} xref: OMIM:229050 {source="MONDO:equivalentTo", source="Orphanet:90045", source="Orphanet:90045/e"} @@ -185131,6 +186592,7 @@ synonym: "glutamate formiminotransferase deficiency" EXACT [OMIM:229100, Orphane xref: DOID:0111679 {source="MONDO:equivalentTo"} xref: GARD:9279 {source="Orphanet:51208"} xref: ICD10CM:E70.8 {source="Orphanet:51208/attributed", source="Orphanet:51208/ntbt", source="Orphanet:51208"} +xref: icd11.foundation:664824338 {source="MONDO:equivalentTo"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537425 {source="MONDO:equivalentTo"} xref: OMIM:229100 {source="Orphanet:51208/e", source="MONDO:equivalentTo", source="Orphanet:51208"} @@ -185316,6 +186778,7 @@ xref: GARD:6622 {source="Orphanet:469"} xref: ICD10CM:E74.1 {source="Orphanet:469/inclusion", source="Orphanet:469", source="Orphanet:469/ntbt"} xref: ICD10CM:E74.12 {source="DOID:9869", source="MONDO:equivalentTo"} xref: icd11.foundation:1925240365 {source="Orphanet:469", source="MONDO:equivalentTo"} +xref: icd11.foundation:1925240365 {source="MONDO:equivalentTo"} xref: ICD9:271.2 {source="DOID:9869"} xref: MedDRA:10019878 {source="Orphanet:469", source="Orphanet:469/e"} xref: MESH:D005633 {source="Orphanet:469", source="DOID:9869", source="Orphanet:469/e"} @@ -185400,6 +186863,7 @@ xref: DOID:0111680 {source="MONDO:equivalentTo"} xref: GARD:6471 {source="Orphanet:2056"} xref: ICD10CM:E74.1 {source="Orphanet:2056", source="Orphanet:2056/attributed", source="Orphanet:2056/ntbt"} xref: ICD10CM:E74.11 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1362211287 {source="MONDO:equivalentTo"} xref: MedDRA:10015487 {source="Orphanet:2056", source="Orphanet:2056/e"} xref: MESH:C538068 {source="Orphanet:2056", source="MONDO:equivalentTo", source="Orphanet:2056/e"} xref: OMIM:229800 {source="Orphanet:2056", source="MONDO:equivalentTo", source="Orphanet:2056/e"} @@ -185429,6 +186893,7 @@ synonym: "Fryns syndrome" EXACT [MONDO:Lexical, OMIM:229850] synonym: "Moerman Van den Berghe Fryns syndrome" RELATED [GARD:0003699] xref: GARD:3699 {source="Orphanet:2059"} xref: ICD10CM:Q87.8 {source="Orphanet:2059/attributed", source="Orphanet:2059/ntbt", source="Orphanet:2059"} +xref: icd11.foundation:1327847749 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538070 {source="Orphanet:2059", source="MONDO:equivalentTo", source="Orphanet:2059/e"} xref: NCIT:C98932 {source="MONDO:equivalentTo"} @@ -185461,6 +186926,7 @@ synonym: "lysosomal storage disease caused by defective alpha-L-fucosidase with xref: DOID:14500 {source="MONDO:equivalentTo"} xref: GARD:6473 {source="Orphanet:349"} xref: ICD10CM:E77.1 {source="Orphanet:349/inclusion", source="Orphanet:349/ntbt", source="Orphanet:349", source="DOID:14500"} +xref: icd11.foundation:1470242510 {source="MONDO:equivalentTo"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D005645 {source="Orphanet:349", source="MONDO:equivalentTo", source="Orphanet:349/e", source="DOID:14500"} xref: NCIT:C61274 {source="MONDO:equivalentTo", source="DOID:14500"} @@ -185504,6 +186970,7 @@ xref: GARD:2422 {source="Orphanet:79237"} xref: ICD10CM:E74.2 {source="Orphanet:79237", source="Orphanet:79237/attributed", source="Orphanet:79237/ntbt"} xref: ICD10CM:E74.29 {source="DOID:14695"} xref: icd11.foundation:1173858031 {source="Orphanet:79237", source="MONDO:equivalentTo"} +xref: icd11.foundation:1173858031 {source="MONDO:equivalentTo"} xref: MESH:C535999 {source="Orphanet:79237", source="Orphanet:79237/e"} xref: MESH:D005693 {source="DOID:14695"} xref: NCIT:C114767 {source="MONDO:equivalentTo", source="DOID:14695"} @@ -185674,6 +187141,7 @@ synonym: "Norman-Landing disease" EXACT [Orphanet:79255] xref: DOID:0080502 {source="MONDO:equivalentTo"} xref: GARD:6479 {source="Orphanet:79255"} xref: ICD10CM:E75.1 {source="Orphanet:79255/attributed", source="Orphanet:79255/ntbt", source="Orphanet:79255"} +xref: icd11.foundation:466200180 {source="MONDO:equivalentTo"} xref: OMIM:230500 {source="GARD:0006479", source="Orphanet:79255/e", source="MONDO:equivalentTo", source="Orphanet:79255"} xref: Orphanet:354 {source="OMIM:230500"} xref: Orphanet:79255 {source="GARD:0006479", source="MONDO:equivalentTo", source="OMIM:230500"} @@ -185714,6 +187182,7 @@ synonym: "late-infantile GM1 gangliosidosis" EXACT [Orphanet:79256] xref: DOID:0080501 {source="MONDO:equivalentTo"} xref: GARD:10126 {source="Orphanet:79256"} xref: ICD10CM:E75.1 {source="Orphanet:79256/attributed", source="Orphanet:79256/ntbt", source="Orphanet:79256"} +xref: icd11.foundation:1132250614 {source="MONDO:equivalentTo"} xref: OMIM:230600 {source="Orphanet:79256/e", source="MONDO:equivalentTo", source="Orphanet:79256"} xref: Orphanet:354 {source="OMIM:230600"} xref: Orphanet:79256 {source="MONDO:equivalentTo", source="OMIM:230600"} @@ -185750,6 +187219,7 @@ synonym: "GM1-gangliosidosis, type III" RELATED [OMIM:230650] xref: DOID:0080489 {source="MONDO:equivalentTo"} xref: GARD:2431 {source="Orphanet:79257"} xref: ICD10CM:E75.1 {source="Orphanet:79257/attributed", source="Orphanet:79257/ntbt", source="Orphanet:79257"} +xref: icd11.foundation:1331496842 {source="MONDO:equivalentTo"} xref: OMIM:230650 {source="Orphanet:79257/e", source="MONDO:equivalentTo", source="Orphanet:79257"} xref: Orphanet:354 {source="OMIM:230650"} xref: Orphanet:79257 {source="MONDO:equivalentTo", source="OMIM:230650"} @@ -185775,6 +187245,7 @@ synonym: "Growth retardation, alopecia, pseudoanodontia, and optic atrophy" RELA xref: DOID:0112249 {source="MONDO:equivalentTo"} xref: GARD:400 {source="Orphanet:2067"} xref: ICD10CM:Q87.8 {source="Orphanet:2067", source="Orphanet:2067/attributed", source="Orphanet:2067/ntbt"} +xref: icd11.foundation:909165198 {source="MONDO:equivalentTo"} xref: MESH:C535642 {source="MONDO:equivalentTo"} xref: OMIM:230740 {source="Orphanet:2067", source="MONDO:equivalentTo", source="Orphanet:2067/e"} xref: Orphanet:2067 {source="MONDO:equivalentTo", source="OMIM:230740"} @@ -185807,6 +187278,7 @@ xref: EFO:1000949 {source="MONDO:equivalentTo"} xref: GARD:8661 {source="Orphanet:2368"} xref: ICD10CM:Q79.3 {source="Orphanet:2368", source="MONDO:equivalentTo", source="DOID:11044", source="Orphanet:2368/e"} xref: icd11.foundation:551758329 {source="Orphanet:2368", source="MONDO:equivalentTo"} +xref: icd11.foundation:551758329 {source="MONDO:equivalentTo"} xref: ICD9:756.73 {source="EFO:1000949", source="DOID:11044"} xref: MedDRA:10018046 {source="EFO:1000949", source="Orphanet:2368", source="Orphanet:2368/e"} xref: MESH:D020139 {source="EFO:1000949", source="Orphanet:2368", source="MONDO:equivalentTo", source="DOID:11044", source="Orphanet:2368/e"} @@ -186007,6 +187479,7 @@ synonym: "GENITOPALATOCARDIAC syndrome" RELATED [OMIM:231060] synonym: "Male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal Cardiac defect" RELATED [OMIM:231060] xref: GARD:2460 {source="Orphanet:2075"} xref: ICD10CM:Q87.8 {source="Orphanet:2075/attributed", source="Orphanet:2075/ntbt", source="Orphanet:2075"} +xref: icd11.foundation:2011995320 {source="MONDO:equivalentTo"} xref: MESH:C537683 {source="Orphanet:2075/e", source="MONDO:equivalentTo", source="Orphanet:2075"} xref: OMIM:231060 {source="Orphanet:2075/e", source="MONDO:equivalentTo", source="Orphanet:2075"} xref: Orphanet:2075 {source="OMIM:231060", source="MONDO:equivalentTo"} @@ -186199,6 +187672,7 @@ synonym: "Von Willebrand Factor receptor deficiency" RELATED [OMIM:231200] xref: DOID:2217 {source="MONDO:equivalentTo"} xref: GARD:2470 {source="Orphanet:274"} xref: ICD10CM:D69.1 {source="Orphanet:274/inclusion", source="Orphanet:274", source="Orphanet:274/ntbt"} +xref: icd11.foundation:507309898 {source="MONDO:equivalentTo"} xref: MedDRA:10057473 {source="Orphanet:274/e", source="Orphanet:274"} xref: MESH:D001606 {source="Orphanet:274/e", source="MONDO:equivalentTo", source="DOID:2217", source="Orphanet:274"} xref: NCIT:C84595 {source="MONDO:equivalentTo", source="DOID:2217"} @@ -186415,6 +187889,7 @@ xref: DOID:0060358 {source="MONDO:equivalentTo"} xref: GARD:6523 {source="Orphanet:26791"} xref: ICD10CM:E71.3 {source="Orphanet:26791", source="Orphanet:26791/attributed", source="Orphanet:26791/ntbt"} xref: ICD10CM:E71.313 {source="DOID:0060358"} +xref: icd11.foundation:977130875 {source="MONDO:equivalentTo"} xref: MESH:D054069 {source="DOID:0060358"} xref: NCIT:C84907 {source="DOID:0060358", source="MONDO:equivalentTo"} xref: NCIT:C99102 {source="DOID:0060358", source="MONDO:otherHierarchy"} @@ -186496,6 +187971,7 @@ synonym: "hemolytic anemia due to glutathione synthetase deficiency" EXACT [OMIM xref: DOID:0112252 {source="MONDO:equivalentTo"} xref: GARD:17331 {source="Orphanet:289849"} xref: ICD10CM:D55.1 {source="Orphanet:289849/attributed", source="Orphanet:289849/ntbt", source="Orphanet:289849"} +xref: icd11.foundation:178842925 {source="MONDO:equivalentTo"} xref: MESH:C565545 {source="MONDO:equivalentTo"} xref: OMIM:231900 {source="Orphanet:289849/e", source="MONDO:equivalentTo", source="Orphanet:289849"} xref: Orphanet:289849 {source="OMIM:231900", source="MONDO:equivalentTo"} @@ -186529,6 +188005,7 @@ synonym: "rare inborn error of glutathione hydrolase activity" EXACT [MONDO:patt xref: DOID:0111257 {source="MONDO:equivalentTo"} xref: GARD:10099 {source="Orphanet:33573"} xref: ICD10CM:E72.8 {source="Orphanet:33573/attributed", source="Orphanet:33573/ntbt", source="Orphanet:33573"} +xref: icd11.foundation:2074850874 {source="MONDO:equivalentTo"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536836 {source="MONDO:equivalentTo"} xref: OMIM:231950 {source="Orphanet:33573/e", source="MONDO:equivalentTo", source="Orphanet:33573"} @@ -187082,6 +188559,7 @@ xref: DOID:9432 {source="EFO:1001151", source="MONDO:equivalentTo"} xref: EFO:1001151 {source="MONDO:equivalentTo"} xref: GARD:7548 {source="Orphanet:69076"} xref: ICD10CM:E74.8 {source="Orphanet:69076/inclusion", source="Orphanet:69076", source="DOID:9432", source="Orphanet:69076/ntbt"} +xref: icd11.foundation:381783069 {source="MONDO:equivalentTo"} xref: ICD9:271.4 {source="EFO:1001151", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9432"} xref: MedDRA:10038457 {source="EFO:1001151"} xref: MESH:D006030 {source="EFO:1001151", source="MONDO:equivalentTo", source="DOID:9432"} @@ -187439,6 +188917,7 @@ synonym: "Werner-like syndrome due to combined Growth Factor deficiency" RELATED synonym: "Werner-like syndrome due to combined growth factor deficiency" EXACT [Orphanet:1979] xref: GARD:12604 {source="Orphanet:1979"} xref: ICD10CM:E88.1 {source="Orphanet:1979/attributed", source="Orphanet:1979/ntbt", source="Orphanet:1979"} +xref: icd11.foundation:1235390174 {source="MONDO:equivalentTo"} xref: MESH:C565529 {source="MONDO:equivalentTo"} xref: OMIM:233805 {source="Orphanet:1979/e", source="MONDO:equivalentTo", source="Orphanet:1979"} xref: Orphanet:1979 {source="OMIM:233805", source="MONDO:equivalentTo"} @@ -187753,6 +189232,7 @@ synonym: "heart block, congenital" RELATED [GARD:0006164, OMIM:234700] xref: DOID:990 {source="MONDO:equivalentTo"} xref: GARD:6164 {source="Orphanet:60041"} xref: ICD10CM:Q24.6 {source="Orphanet:60041/specific", source="Orphanet:60041/e", source="MONDO:equivalentTo", source="DOID:990", source="Orphanet:60041"} +xref: icd11.foundation:1096954866 {source="MONDO:equivalentTo"} xref: ICD9:746.86 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:990"} xref: MedDRA:10019263 {source="Orphanet:60041/e", source="Orphanet:60041"} xref: MESH:C535758 {source="Orphanet:60041/e", source="MONDO:equivalentTo", source="DOID:990", source="Orphanet:60041"} @@ -187834,6 +189314,7 @@ synonym: "hemangiopericytoma, malignant" EXACT [NCIT:C4301, OMIM:234820] synonym: "malignant hemangiopericytoma" EXACT [NCIT:C4301] synonym: "malignant hemangiopericytoma NOS" RELATED EXCLUDE [NCIT:C4301] xref: GARD:2627 {source="OMIM:234820"} +xref: icd11.foundation:1125548542 {source="MONDO:equivalentTo"} xref: ICDO:9150/3 {source="NCIT:C4301"} xref: MESH:C562740 {source="MONDO:equivalentTo"} xref: NCIT:C4301 {source="MONDO:equivalentTo"} @@ -188110,6 +189591,7 @@ synonym: "MOWS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:235730] xref: DOID:0060485 {source="MONDO:equivalentTo"} xref: GARD:9673 {source="Orphanet:2152"} xref: ICD10CM:Q43.1 {source="Orphanet:2152/attributed", source="Orphanet:2152/ntbt", source="Orphanet:2152"} +xref: icd11.foundation:1985672762 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536990 {source="DOID:0060485", source="Orphanet:2152/e", source="MONDO:equivalentTo", source="Orphanet:2152"} xref: NCIT:C74999 {source="DOID:0060485", source="MONDO:equivalentTo"} @@ -188361,6 +189843,7 @@ synonym: "Homocarnosinase deficiency" EXACT [OMIM:236130, Orphanet:2168] synonym: "homocarnosinosis" EXACT [OMIM:236130] xref: DOID:0060177 {source="MONDO:equivalentTo"} xref: ICD10CM:E72.8 {source="Orphanet:2168", source="Orphanet:2168/attributed", source="Orphanet:2168/ntbt"} +xref: icd11.foundation:166229372 {source="MONDO:equivalentTo"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535328 {source="Orphanet:2168", source="MONDO:equivalentTo", source="Orphanet:2168/e"} xref: OMIM:236130 {source="Orphanet:2168", source="MONDO:equivalentTo", source="Orphanet:2168/e"} @@ -188840,6 +190323,7 @@ synonym: "L2HGA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236792] xref: DOID:0050574 {source="MONDO:equivalentTo"} xref: GARD:10472 {source="Orphanet:79314"} xref: ICD10CM:E72.8 {source="Orphanet:79314", source="Orphanet:79314/attributed", source="Orphanet:79314/ntbt"} +xref: icd11.foundation:562958433 {source="MONDO:equivalentTo"} xref: OMIM:236792 {source="Orphanet:79314", source="DOID:0050574", source="MONDO:equivalentTo", source="Orphanet:79314/e"} xref: Orphanet:79314 {source="OMIM:236792", source="MONDO:equivalentTo"} xref: SCTID:237961001 {source="MONDO:equivalentTo"} @@ -188861,6 +190345,7 @@ synonym: "3-hydroxyisobutyric aciduria" EXACT [OMIM:236795] synonym: "disorder of valine metabolism" RELATED [GARD:0005662] xref: GARD:5662 {source="Orphanet:939"} xref: ICD10CM:E71.1 {source="Orphanet:939", source="Orphanet:939/attributed", source="Orphanet:939/ntbt"} +xref: icd11.foundation:1293648631 {source="MONDO:equivalentTo"} xref: ICD9:791.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535312 {source="Orphanet:939/e", source="MONDO:equivalentTo", source="Orphanet:939"} xref: OMIM:236795 {source="Orphanet:939/e", source="MONDO:equivalentTo", source="Orphanet:939"} @@ -188887,6 +190372,7 @@ synonym: "Xanthurenic aciduria" EXACT [OMIM:236800, Orphanet:79155] xref: DOID:0112257 {source="MONDO:equivalentTo"} xref: GARD:10039 {source="Orphanet:79155"} xref: ICD10CM:E70.8 {source="Orphanet:79155", source="Orphanet:79155/attributed", source="Orphanet:79155/ntbt"} +xref: icd11.foundation:1145853843 {source="MONDO:equivalentTo"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536081 {source="MONDO:equivalentTo"} xref: OMIM:236800 {source="Orphanet:79155/e", source="MONDO:equivalentTo", source="Orphanet:79155"} @@ -189060,6 +190546,7 @@ synonym: "Rotor syndrome" EXACT [OMIM:237450] synonym: "Rotor-type hyperbilirubinemia" RELATED [GARD:0000218] xref: GARD:218 {source="Orphanet:3111"} xref: ICD10CM:E80.6 {source="Orphanet:3111", source="Orphanet:3111/attributed", source="Orphanet:3111/ntbt"} +xref: icd11.foundation:1965776012 {source="MONDO:equivalentTo"} xref: MedDRA:10039234 {source="Orphanet:3111", source="Orphanet:3111/e"} xref: OMIM:237450 {source="Orphanet:3111", source="MONDO:equivalentTo", source="Orphanet:3111/e"} xref: Orphanet:3111 {source="OMIM:237450", source="MONDO:equivalentTo"} @@ -189096,6 +190583,7 @@ xref: DOID:12308 {source="MONDO:equivalentTo"} xref: GARD:2793 {source="Orphanet:234"} xref: ICD10CM:E80.6 {source="DOID:12308", source="Orphanet:234/attributed", source="Orphanet:234/ntbt", source="Orphanet:234"} xref: icd11.foundation:1691610999 {source="MONDO:equivalentTo", source="Orphanet:234"} +xref: icd11.foundation:1691610999 {source="MONDO:equivalentTo"} xref: MedDRA:10013800 {source="Orphanet:234/e", source="Orphanet:234"} xref: MESH:D007566 {source="DOID:12308", source="Orphanet:234/e", source="MONDO:equivalentTo", source="Orphanet:234"} xref: NCIT:C34741 {source="DOID:12308", source="MONDO:equivalentTo"} @@ -189258,6 +190746,7 @@ synonym: "type I hyperlipoproteinemia" RELATED [GARD:0012241] xref: DOID:14118 {source="MONDO:equivalentTo"} xref: GARD:12241 {source="Orphanet:309015"} xref: ICD10CM:E78.3 {source="DOID:14118", source="Orphanet:309015/attributed", source="Orphanet:309015/ntbt", source="Orphanet:309015"} +xref: icd11.foundation:1829539217 {source="MONDO:equivalentTo"} xref: ICD9:272.3 {source="DOID:14118"} xref: MESH:D008072 {source="DOID:14118", source="MONDO:equivalentTo"} xref: NCIT:C84771 {source="DOID:14118", source="MONDO:equivalentTo"} @@ -189432,6 +190921,7 @@ xref: ICD10CM:M88.0 {source="Orphanet:2801", source="Orphanet:2801/attributed", xref: ICD10CM:M88.8 {source="Orphanet:2801", source="Orphanet:2801/attributed", source="Orphanet:2801/ntbt"} xref: ICD10CM:M88.9 {source="Orphanet:2801", source="Orphanet:2801/attributed", source="Orphanet:2801/ntbt"} xref: icd11.foundation:762002965 {source="MONDO:equivalentTo", source="Orphanet:2801"} +xref: icd11.foundation:762002965 {source="MONDO:equivalentTo"} xref: MESH:C537701 {source="MONDO:equivalentTo"} xref: NCIT:C131861 {source="MONDO:equivalentTo"} xref: NORD:1230 {source="MONDO:NORD"} @@ -189469,6 +190959,7 @@ synonym: "VBCH" RELATED ABBREVIATION [GARD:0002833, OMIM:239100] xref: DOID:0080036 {source="MONDO:equivalentTo"} xref: GARD:2833 {source="Orphanet:3416"} xref: ICD10CM:M85.2 {source="Orphanet:3416", source="Orphanet:3416/attributed", source="Orphanet:3416/ntbt"} +xref: icd11.foundation:241514592 {source="MONDO:equivalentTo"} xref: NCIT:C131812 {source="MONDO:equivalentTo"} xref: OMIM:239100 {source="MONDO:equivalentTo", source="DOID:0080036", source="Orphanet:3416", source="Orphanet:3416/e"} xref: Orphanet:3416 {source="OMIM:239100", source="MONDO:equivalentTo"} @@ -189511,6 +191002,7 @@ synonym: "NSHPT" EXACT ABBREVIATION [MONDO:Lexical, OMIM:239200, Orphanet:417] synonym: "Nsph" RELATED [OMIM:239200] xref: GARD:2838 {source="Orphanet:417"} xref: ICD10CM:E21.0 {source="Orphanet:417", source="Orphanet:417/attributed", source="Orphanet:417/ntbt"} +xref: icd11.foundation:1929875111 {source="MONDO:equivalentTo"} xref: MESH:C563375 {source="MONDO:equivalentTo"} xref: NCIT:C131853 {source="MONDO:equivalentTo"} xref: OMIM:239200 {source="MONDO:equivalentTo", source="Orphanet:417", source="Orphanet:417/e"} @@ -189897,6 +191389,7 @@ xref: DOID:13724 {source="EFO:1001169", source="MONDO:equivalentTo"} xref: EFO:1000822 {source="MONDO:equivalentTo"} xref: EFO:1001169 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: ICD10CM:E54 {source="DOID:13724", source="MONDO:equivalentTo", source="EFO:1000822"} +xref: icd11.foundation:708602629 {source="MONDO:equivalentTo"} xref: ICD9:267 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10039768 {source="EFO:1001169"} xref: MedDRA:10047623 {source="EFO:1000822"} @@ -190068,6 +191561,7 @@ synonym: "woodhouse-Sakati syndrome" EXACT [OMIM:241080] xref: DOID:0112264 {source="MONDO:equivalentTo"} xref: GARD:5592 {source="Orphanet:3464"} xref: ICD10CM:Q87.8 {source="Orphanet:3464", source="Orphanet:3464/attributed", source="Orphanet:3464/ntbt"} +xref: icd11.foundation:1893572805 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536742 {source="Orphanet:3464", source="MONDO:equivalentTo", source="Orphanet:3464/e"} xref: OMIM:241080 {source="Orphanet:3464", source="MONDO:equivalentTo", source="Orphanet:3464/e"} @@ -190476,6 +191970,7 @@ synonym: "hamartoma of the hypothalamus" RELATED [GARD:0002934] synonym: "hypothalamic hamartoma" EXACT [NCIT:C4385] synonym: "hypothalamic hamartomas" EXACT [OMIM:241800] synonym: "Pallister-Hall-like syndrome" EXACT [OMIM:241800, OMIM:genemap2] +xref: icd11.foundation:2057991470 {source="MONDO:equivalentTo"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537158 {source="MONDO:equivalentTo"} xref: NCIT:C4385 {source="MONDO:equivalentTo"} @@ -190509,6 +192004,7 @@ synonym: "hypothyroidism-cleft palate syndrome" EXACT [Orphanet:1226] xref: DOID:0050655 {source="MONDO:equivalentTo"} xref: GARD:414 {source="Orphanet:1226"} xref: ICD10CM:E03.1 {source="Orphanet:1226", source="Orphanet:1226/attributed", source="Orphanet:1226/ntbt"} +xref: icd11.foundation:1747690671 {source="MONDO:equivalentTo"} xref: MESH:C537901 {source="MONDO:equivalentTo", source="Orphanet:1226", source="Orphanet:1226/e"} xref: OMIM:241850 {source="MONDO:equivalentTo", source="Orphanet:1226", source="DOID:0050655", source="Orphanet:1226/e"} xref: Orphanet:1226 {source="MONDO:equivalentTo", source="OMIM:241850"} @@ -190790,6 +192286,7 @@ synonym: "iminoglycinuria, digenic" EXACT [OMIM:242600, OMIM:genemap2] xref: DOID:0112265 {source="MONDO:equivalentTo"} xref: GARD:8424 {source="Orphanet:42062"} xref: ICD10CM:E72.0 {source="Orphanet:42062/attributed", source="Orphanet:42062/ntbt", source="Orphanet:42062"} +xref: icd11.foundation:664428532 {source="MONDO:equivalentTo"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536285 {source="Orphanet:42062/e", source="MONDO:equivalentTo", source="Orphanet:42062"} xref: OMIM:242600 {source="Orphanet:42062/e", source="MONDO:equivalentTo", source="Orphanet:42062"} @@ -190853,6 +192350,7 @@ synonym: "thymic aplasia" RELATED [OMIM:242700] xref: DOID:2012 {source="MONDO:equivalentTo"} xref: GARD:7201 {source="Orphanet:83471"} xref: ICD10CM:D81.4 {source="Orphanet:83471/specific", source="DOID:2012", source="Orphanet:83471/e", source="Orphanet:83471"} +xref: icd11.foundation:215376282 {source="MONDO:equivalentTo"} xref: ICD9:279.13 {source="DOID:2012"} xref: MESH:C536288 {source="DOID:2012", source="MONDO:equivalentTo"} xref: OMIM:242700 {source="DOID:2012", source="Orphanet:83471/e", source="MONDO:equivalentTo", source="Orphanet:83471"} @@ -191003,6 +192501,7 @@ synonym: "spondyloepiphyseal dysplasia-nephrotic syndrome" EXACT [Orphanet:1830] xref: DOID:0060490 {source="MONDO:equivalentTo"} xref: GARD:4984 {source="Orphanet:1830"} xref: ICD10CM:Q77.7 {source="Orphanet:1830", source="Orphanet:1830/attributed", source="Orphanet:1830/ntbt"} +xref: icd11.foundation:2002226225 {source="MONDO:equivalentTo"} xref: MedDRA:10048699 {source="Orphanet:1830", source="Orphanet:1830/e"} xref: MESH:C536629 {source="MONDO:equivalentTo", source="Orphanet:1830", source="DOID:0060490", source="Orphanet:1830/e"} xref: NCIT:C135087 {source="MONDO:equivalentTo"} @@ -191436,6 +192935,7 @@ xref: ICD10CM:Q41.2 {source="Orphanet:1201/btnt", source="Orphanet:1201", source xref: ICD10CM:Q41.8 {source="Orphanet:1201/btnt", source="Orphanet:1201", source="Orphanet:1201/specific"} xref: ICD10CM:Q41.9 {source="Orphanet:1201/btnt", source="Orphanet:1201", source="Orphanet:1201/specific"} xref: icd11.foundation:1949256262 {source="Orphanet:1201", source="MONDO:equivalentTo"} +xref: icd11.foundation:1949256262 {source="MONDO:equivalentTo"} xref: MedDRA:10010626 {source="Orphanet:1201", source="Orphanet:1201/e"} xref: MESH:C538260 {source="Orphanet:1201", source="MONDO:equivalentTo", source="Orphanet:1201/e"} xref: NCIT:C98828 {source="MONDO:equivalentTo"} @@ -191521,6 +193021,7 @@ synonym: "hyperimmunoglobulin E recurrent infection syndrome, autosomal recessiv xref: DOID:0080594 {source="MONDO:equivalentTo"} xref: GARD:2816 {source="Orphanet:217390"} xref: ICD10CM:D81.1 {source="Orphanet:217390/attributed", source="Orphanet:217390/ntbt", source="Orphanet:217390"} +xref: icd11.foundation:136043326 {source="MONDO:equivalentTo"} xref: NCIT:C126343 {source="MONDO:equivalentTo"} xref: OMIM:243700 {source="Orphanet:217390", source="MONDO:equivalentTo", source="Orphanet:217390/e", source="GARD:0002816"} xref: Orphanet:169446 {source="OMIM:243700", source="GARD:0002816"} @@ -191552,6 +193053,7 @@ xref: DOID:14694 {source="MONDO:equivalentTo"} xref: EFO:0001063 {source="MONDO:equivalentTo"} xref: GARD:80 {source="Orphanet:2315"} xref: ICD10CM:Q87.8 {source="Orphanet:2315", source="Orphanet:2315/attributed", source="Orphanet:2315/ntbt"} +xref: icd11.foundation:1427330812 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535880 {source="MONDO:equivalentTo", source="Orphanet:2315", source="DOID:14694", source="Orphanet:2315/e"} xref: MESH:C564907 {source="MONDO:equivalentTo"} @@ -191605,6 +193107,7 @@ synonym: "JS type B" EXACT [GARD:0009455, Orphanet:2318] synonym: "JS-OR" EXACT [GARD:0009455, Orphanet:2318] xref: GARD:9455 {source="Orphanet:2318"} xref: ICD10CM:Q04.3 {source="Orphanet:2318/attributed", source="Orphanet:2318/ntbt", source="Orphanet:2318"} +xref: icd11.foundation:397835469 {source="MONDO:equivalentTo"} xref: MESH:C537430 {source="MONDO:equivalentTo"} xref: OMIM:243910 {source="Orphanet:2318/e", source="MONDO:equivalentTo", source="Orphanet:2318", source="GARD:0009455"} xref: Orphanet:2318 {source="MONDO:equivalentTo", source="GARD:0009455", source="OMIM:243910"} @@ -191963,6 +193466,7 @@ synonym: "Richards-Rundle syndrome" EXACT [MONDO:Lexical, OMIM:245100] synonym: "RRNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245100] xref: GARD:8423 {source="Orphanet:1399"} xref: ICD10CM:G60.2 {source="Orphanet:1399/attributed", source="Orphanet:1399/ntbt", source="Orphanet:1399"} +xref: icd11.foundation:114583632 {source="MONDO:equivalentTo"} xref: MESH:C535674 {source="Orphanet:1399", source="MONDO:equivalentTo", source="Orphanet:1399/e"} xref: OMIM:245100 {source="Orphanet:1399", source="MONDO:equivalentTo", source="Orphanet:1399/e"} xref: Orphanet:1399 {source="OMIM:245100", source="MONDO:equivalentTo"} @@ -191996,6 +193500,7 @@ synonym: "pulmonic stenosis, brachytelephalangism, and calcification of cartilag synonym: "pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome" EXACT [Orphanet:85202] xref: GARD:8449 {source="Orphanet:85202"} xref: ICD10CM:Q87.8 {source="Orphanet:85202", source="Orphanet:85202/attributed", source="Orphanet:85202/ntbt"} +xref: icd11.foundation:1083151379 {source="MONDO:equivalentTo"} xref: MESH:C536167 {source="Orphanet:85202", source="MONDO:equivalentTo", source="Orphanet:85202/e"} xref: OMIM:245150 {source="Orphanet:85202", source="MONDO:equivalentTo", source="Orphanet:85202/e"} xref: Orphanet:85202 {source="OMIM:245150", source="MONDO:equivalentTo"} @@ -192089,6 +193594,7 @@ xref: GARD:6844 {source="Orphanet:487"} xref: ICD10CM:E75.2 {source="Orphanet:487/ntbt", source="Orphanet:487/inclusion", source="Orphanet:487"} xref: ICD10CM:E75.23 {source="DOID:10587", source="MONDO:equivalentTo"} xref: icd11.foundation:796317173 {source="MONDO:equivalentTo", source="Orphanet:487"} +xref: icd11.foundation:796317173 {source="MONDO:equivalentTo"} xref: MedDRA:10023492 {source="Orphanet:487/e", source="Orphanet:487"} xref: MESH:D007965 {source="DOID:10587", source="MONDO:equivalentTo"} xref: NCIT:C61254 {source="DOID:10587", source="MONDO:equivalentTo"} @@ -192419,6 +193925,7 @@ synonym: "Larsen-like multiple joint dislocation syndrome" RELATED [GARD:0003181 synonym: "Larsen-like syndrome, lethal type" RELATED [OMIM:245650] xref: GARD:3181 {source="Orphanet:2371"} xref: ICD10CM:Q74.8 {source="Orphanet:2371/attributed", source="Orphanet:2371/ntbt", source="Orphanet:2371"} +xref: icd11.foundation:1014532279 {source="MONDO:equivalentTo"} xref: MESH:C537872 {source="Orphanet:2371/e", source="MONDO:equivalentTo", source="Orphanet:2371"} xref: OMIM:245650 {source="Orphanet:2371/e", source="MONDO:equivalentTo", source="Orphanet:2371"} xref: Orphanet:2371 {source="OMIM:245650", source="MONDO:equivalentTo"} @@ -192476,6 +193983,7 @@ synonym: "LNMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245800] xref: DOID:1930 {source="MONDO:equivalentTo"} xref: GARD:12635 {source="Orphanet:2377"} xref: ICD10CM:Q87.8 {source="Orphanet:2377/inclusion", source="Orphanet:2377", source="Orphanet:2377/ntbt"} +xref: icd11.foundation:458834940 {source="MONDO:equivalentTo"} xref: ICD9:253.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10056710 {source="Orphanet:2377", source="Orphanet:2377/e"} xref: MESH:D007849 {source="Orphanet:2377", source="MONDO:equivalentTo", source="Orphanet:2377/e", source="DOID:1930"} @@ -192519,6 +194027,7 @@ synonym: "Norum disease" EXACT [OMIM:245900, Orphanet:79293] xref: DOID:1391 {source="MONDO:equivalentTo"} xref: GARD:4011 {source="Orphanet:79293"} xref: ICD10CM:E78.6 {source="Orphanet:79293", source="DOID:1391", source="Orphanet:79293/attributed", source="Orphanet:79293/ntbt"} +xref: icd11.foundation:1848131619 {source="MONDO:equivalentTo"} xref: MESH:D007863 {source="DOID:1391"} xref: NCIT:C84813 {source="MONDO:equivalentTo", source="DOID:1391"} xref: OMIM:245900 {source="MONDO:equivalentTo", source="Orphanet:79293", source="DOID:1391", source="Orphanet:79293/e"} @@ -192632,6 +194141,8 @@ synonym: "L-S disease" RELATED [OMIM:246400] synonym: "letterer-Siwe disease" EXACT [NCIT:C3160, OMIM:246400] synonym: "multifocal multisystem Langerhans cell histiocytosis" EXACT [NCIT:C3160] xref: ICD10CM:C96.0 {source="Orphanet:99870/e", source="Orphanet:99870"} +xref: icd11.foundation:1313748001 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1827474596 {source="MONDO:equivalentTo"} xref: ICDO:9754/3 {source="NCIT:C3160"} xref: MedDRA:10024265 {source="Orphanet:99870/e", source="Orphanet:99870"} xref: MESH:C538636 {source="Orphanet:99870/e", source="Orphanet:99870"} @@ -192666,6 +194177,7 @@ synonym: "Hydroxymethylglutaric aciduria" EXACT [OMIM:246450, Orphanet:20] synonym: "hydroxymethylglutaryl-CoA lyase deficiency" EXACT [NCIT:C84523] xref: GARD:8387 {source="Orphanet:20"} xref: ICD10CM:E71.1 {source="Orphanet:20", source="Orphanet:20/attributed", source="Orphanet:20/ntbt"} +xref: icd11.foundation:795785192 {source="MONDO:equivalentTo"} xref: MESH:C538324 {source="MONDO:equivalentTo"} xref: NCIT:C84523 {source="MONDO:equivalentTo"} xref: OMIM:246450 {source="Orphanet:20", source="MONDO:equivalentTo", source="Orphanet:20/e"} @@ -192878,6 +194390,7 @@ xref: DOID:0060357 {source="MONDO:equivalentTo"} xref: GARD:9683 {source="Orphanet:71"} xref: ICD10CM:E78.3 {source="DOID:0060357"} xref: ICD10CM:E78.6 {source="Orphanet:71/attributed", source="Orphanet:71/ntbt", source="Orphanet:71"} +xref: icd11.foundation:1447416932 {source="MONDO:equivalentTo"} xref: MESH:C535460 {source="Orphanet:71/e", source="MONDO:equivalentTo", source="DOID:0060357", source="Orphanet:71"} xref: OMIM:246700 {source="Orphanet:71/e", source="MONDO:equivalentTo", source="DOID:0060357", source="Orphanet:71"} xref: Orphanet:71 {source="MONDO:equivalentTo", source="DOID:0060357", source="OMIM:246700"} @@ -192943,6 +194456,7 @@ synonym: "Urbach-Wiethe disease" EXACT [DOID:14498, OMIM:247100, Orphanet:530] xref: DOID:14498 {source="MONDO:equivalentTo"} xref: GARD:3268 {source="Orphanet:530"} xref: ICD10CM:E78.8 {source="Orphanet:530/index", source="Orphanet:530/ntbt", source="Orphanet:530"} +xref: icd11.foundation:326368380 {source="MONDO:equivalentTo"} xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D008065 {source="MONDO:equivalentTo", source="DOID:14498"} xref: NCIT:C84829 {source="MONDO:equivalentTo", source="DOID:14498"} @@ -193019,6 +194533,7 @@ synonym: "lymphedema hypoparathyroidism syndrome" RELATED [GARD:0000237] synonym: "lymphedema-hypoparathyroidism syndrome" EXACT [OMIM:247410, Orphanet:1563] xref: GARD:237 {source="Orphanet:1563"} xref: ICD10CM:Q87.8 {source="Orphanet:1563", source="Orphanet:1563/e", source="Orphanet:1563/specific"} +xref: icd11.foundation:1407652122 {source="MONDO:equivalentTo"} xref: MESH:C535769 {source="Orphanet:1563", source="MONDO:equivalentTo", source="Orphanet:1563/e"} xref: OMIM:247410 {source="Orphanet:1563", source="MONDO:equivalentTo", source="Orphanet:1563/e"} xref: Orphanet:1563 {source="OMIM:247410", source="MONDO:equivalentTo"} @@ -193086,6 +194601,7 @@ xref: GARD:16700 {source="Orphanet:79128"} xref: ICD10CM:J84.1 {source="Orphanet:79128", source="Orphanet:79128/ntbt"} xref: ICD10CM:J84.2 {source="MONDO:equivalentTo"} xref: icd11.foundation:1140418798 {source="Orphanet:79128", source="MONDO:equivalentTo"} +xref: icd11.foundation:1140418798 {source="MONDO:equivalentTo"} xref: ICD9:516.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10062997 {source="Orphanet:79128", source="Orphanet:79128/e"} xref: MESH:C562489 {source="MONDO:equivalentTo"} @@ -193381,6 +194897,7 @@ synonym: "transgrediens palmoplantar keratoderma of Siemens" EXACT [DOID:0060862 xref: DOID:0060862 {source="MONDO:equivalentTo"} xref: GARD:92 {source="Orphanet:87503"} xref: ICD10CM:Q82.8 {source="Orphanet:87503/attributed", source="Orphanet:87503/ntbt", source="DOID:0060862", source="Orphanet:87503"} +xref: icd11.foundation:1850911834 {source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NORD:1428 {source="MONDO:NORD"} xref: OMIM:248300 {source="DOID:0060862", source="Orphanet:87503", source="MONDO:equivalentTo", source="Orphanet:87503/e", source="GARD:0000092"} @@ -193463,6 +194980,7 @@ synonym: "malonyl-CoA decarboxylase deficiency" EXACT [OMIM:248360, Orphanet:943 synonym: "MCD deficiency" RELATED [GARD:0003371] xref: GARD:3371 {source="Orphanet:943"} xref: ICD10CM:E72.8 {source="Orphanet:943/attributed", source="Orphanet:943/ntbt", source="Orphanet:943"} +xref: icd11.foundation:1373430210 {source="MONDO:equivalentTo"} xref: MESH:C535702 {source="Orphanet:943", source="MONDO:equivalentTo", source="Orphanet:943/e"} xref: OMIM:248360 {source="Orphanet:943", source="MONDO:equivalentTo", source="Orphanet:943/e"} xref: Orphanet:943 {source="MONDO:equivalentTo", source="OMIM:248360"} @@ -193492,6 +195010,7 @@ synonym: "Mandibuloacral dysplasia with type a lipodystrophy, atypical" RELATED xref: DOID:0081128 {source="MONDO:equivalentTo"} xref: GARD:3374 {source="Orphanet:90153"} xref: ICD10CM:Q87.5 {source="Orphanet:90153/attributed", source="Orphanet:90153/ntbt", source="Orphanet:90153"} +xref: icd11.foundation:1756335062 {source="MONDO:equivalentTo"} xref: MESH:C535705 {source="Orphanet:90153", source="MONDO:equivalentTo", source="Orphanet:90153/e"} xref: NCIT:C123417 {source="MONDO:equivalentTo"} xref: OMIM:248370 {source="Orphanet:90153", source="MONDO:equivalentTo", source="Orphanet:90153/e"} @@ -193599,6 +195118,7 @@ synonym: "MANSA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248500] xref: DOID:3413 {source="MONDO:equivalentTo"} xref: GARD:6968 {source="Orphanet:61"} xref: ICD10CM:E77.1 {source="Orphanet:61/ntbt", source="Orphanet:61/inclusion", source="Orphanet:61"} +xref: icd11.foundation:1944256516 {source="MONDO:equivalentTo"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D008363 {source="Orphanet:61/e", source="MONDO:equivalentTo", source="DOID:3413", source="Orphanet:61"} xref: NCIT:C84548 {source="MONDO:equivalentTo", source="DOID:3413"} @@ -193642,6 +195162,7 @@ synonym: "MANSB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248510] xref: DOID:3633 {source="MONDO:equivalentTo"} xref: GARD:869 {source="Orphanet:118"} xref: ICD10CM:E77.1 {source="Orphanet:118/inclusion", source="Orphanet:118/ntbt", source="Orphanet:118"} +xref: icd11.foundation:1578707401 {source="MONDO:equivalentTo"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D044905 {source="Orphanet:118", source="MONDO:equivalentTo", source="DOID:3633", source="Orphanet:118/e"} xref: NCIT:C84596 {source="MONDO:equivalentTo", source="DOID:3633"} @@ -193740,6 +195261,7 @@ synonym: "MWKS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248700] synonym: "Mws" RELATED [OMIM:248700] xref: GARD:6973 {source="Orphanet:2461"} xref: ICD10CM:Q87.0 {source="Orphanet:2461/attributed", source="Orphanet:2461/ntbt", source="Orphanet:2461"} +xref: icd11.foundation:1983460876 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535910 {source="Orphanet:2461/e", source="MONDO:equivalentTo", source="Orphanet:2461"} xref: NORD:1402 {source="MONDO:NORD"} @@ -193909,6 +195431,7 @@ synonym: "McDonough syndrome" EXACT [OMIM:248950] synonym: "mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect" RELATED DEPRECATED [GARD:0003424] xref: GARD:3424 {source="Orphanet:2471"} xref: ICD10CM:Q87.8 {source="Orphanet:2471/attributed", source="Orphanet:2471/ntbt", source="Orphanet:2471"} +xref: icd11.foundation:1349711155 {source="MONDO:equivalentTo"} xref: MESH:C538158 {source="Orphanet:2471/e", source="MONDO:equivalentTo", source="Orphanet:2471"} xref: OMIM:248950 {source="Orphanet:2471/e", source="MONDO:equivalentTo", source="Orphanet:2471"} xref: Orphanet:2471 {source="OMIM:248950", source="MONDO:equivalentTo"} @@ -194054,6 +195577,7 @@ synonym: "megalocornea (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0060305 {source="MONDO:equivalentTo"} xref: HP:0000485 {source="MONDO:otherHierarchy"} xref: HP:0007660 {source="MONDO:otherHierarchy", source="DOID:0060305"} +xref: icd11.foundation:58849242 {source="MONDO:equivalentTo"} xref: MESH:C562829 {source="MONDO:equivalentTo", source="DOID:0060305"} xref: OMIM:249300 {source="MONDO:equivalentTo", source="DOID:0060305"} xref: Orphanet:91489 {source="DOID:0060305"} @@ -194121,6 +195645,7 @@ xref: ICD10CM:D22.4 {source="Orphanet:2481/btnt", source="Orphanet:2481"} xref: ICD10CM:D22.5 {source="Orphanet:2481/btnt", source="Orphanet:2481"} xref: ICD10CM:D22.6 {source="Orphanet:2481/btnt", source="Orphanet:2481"} xref: ICD10CM:D22.7 {source="Orphanet:2481/btnt", source="Orphanet:2481"} +xref: icd11.foundation:403221860 {source="MONDO:equivalentTo"} xref: MESH:C537387 {source="Orphanet:2481/e", source="MONDO:equivalentTo", source="Orphanet:2481"} xref: OMIM:249400 {source="Orphanet:2481/e", source="MONDO:equivalentTo", source="Orphanet:2481"} xref: Orphanet:2481 {source="OMIM:249400", source="MONDO:equivalentTo"} @@ -194155,6 +195680,7 @@ synonym: "Ter Haar syndrome" EXACT [GARD:0005138, OMIM:249420, Orphanet:137834] xref: DOID:0111789 {source="MONDO:equivalentTo"} xref: GARD:5138 {source="Orphanet:137834"} xref: ICD10CM:Q87.8 {source="Orphanet:137834", source="Orphanet:137834/attributed", source="Orphanet:137834/ntbt"} +xref: icd11.foundation:1643548765 {source="MONDO:equivalentTo"} xref: MESH:C536577 {source="MONDO:equivalentTo"} xref: MESH:C537274 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: OMIM:211170 {source="GARD:0000939", source="MONDO:equivalentObsolete"} @@ -194243,6 +195769,7 @@ synonym: "mental retardation syndrome, Mietens-WEBER type" RELATED DEPRECATED [O synonym: "Mietens-Weber syndrome" RELATED [OMIM:249600] xref: GARD:3524 {source="Orphanet:2557"} xref: ICD10CM:Q87.8 {source="Orphanet:2557", source="Orphanet:2557/attributed", source="Orphanet:2557/ntbt"} +xref: icd11.foundation:1399358623 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537444 {source="MONDO:equivalentTo"} xref: OMIM:249600 {source="MONDO:equivalentTo", source="Orphanet:2557", source="Orphanet:2557/e"} @@ -194506,6 +196033,7 @@ synonym: "wedge-shaped epiphyses of the knees with intellectual disability and s synonym: "wedge-shaped epiphyses of the knees with mental retardation and short stature" RELATED DEPRECATED [GARD:0003519] xref: GARD:3519 {source="Orphanet:1240"} xref: ICD10CM:Q78.5 {source="Orphanet:1240/attributed", source="Orphanet:1240/ntbt", source="Orphanet:1240"} +xref: icd11.foundation:1994645064 {source="MONDO:equivalentTo"} xref: MESH:C537350 {source="Orphanet:1240/e", source="MONDO:equivalentTo", source="Orphanet:1240"} xref: OMIM:250215 {source="Orphanet:1240/e", source="MONDO:equivalentTo", source="Orphanet:1240"} xref: Orphanet:1240 {source="OMIM:250215", source="MONDO:equivalentTo"} @@ -194534,6 +196062,7 @@ synonym: "spondylometaphyseal dysplasia, Sedaghatian type" EXACT CLINGEN_LABEL [ xref: DOID:0112298 {source="MONDO:equivalentTo"} xref: GARD:4993 {source="Orphanet:93317"} xref: ICD10CM:Q77.8 {source="Orphanet:93317", source="Orphanet:93317/attributed", source="Orphanet:93317/ntbt"} +xref: icd11.foundation:975738106 {source="MONDO:equivalentTo"} xref: MESH:C535798 {source="Orphanet:93317/e", source="MONDO:equivalentTo", source="Orphanet:93317"} xref: OMIM:250220 {source="Orphanet:93317/e", source="MONDO:equivalentTo", source="Orphanet:93317"} xref: Orphanet:93317 {source="MONDO:equivalentTo", source="OMIM:250220"} @@ -194593,6 +196122,7 @@ synonym: "metaphyseal chondrodysplasia, Mckusick type" RELATED [OMIM:250250] xref: DOID:14773 {source="MONDO:equivalentTo"} xref: GARD:6996 {source="Orphanet:175"} xref: ICD10CM:Q78.8 {source="Orphanet:175", source="Orphanet:175/attributed", source="Orphanet:175/ntbt"} +xref: icd11.foundation:469051294 {source="MONDO:equivalentTo"} xref: MedDRA:10069596 {source="Orphanet:175/e", source="Orphanet:175"} xref: MESH:C535916 {source="Orphanet:175/e", source="MONDO:equivalentTo", source="DOID:14773", source="Orphanet:175"} xref: NCIT:C61245 {source="MONDO:equivalentTo", source="DOID:14773"} @@ -194638,6 +196168,7 @@ synonym: "metaphyseal dysplasia, Spahr type" RELATED [MONDO:Lexical, OMIM:250400 synonym: "Spahr type metaphyseal chondrodysplasia" RELATED [GARD:0003563] xref: GARD:3563 {source="Orphanet:2501"} xref: ICD10CM:Q78.5 {source="Orphanet:2501", source="Orphanet:2501/attributed", source="Orphanet:2501/ntbt"} +xref: icd11.foundation:1856002752 {source="MONDO:equivalentTo"} xref: MESH:C537353 {source="MONDO:equivalentTo", source="Orphanet:2501", source="Orphanet:2501/e"} xref: OMIM:250400 {source="MONDO:equivalentTo", source="Orphanet:2501", source="Orphanet:2501/e"} xref: Orphanet:2501 {source="MONDO:equivalentTo", source="OMIM:250400"} @@ -194897,6 +196428,7 @@ name: methionine malabsorption syndrome synonym: "methionine malabsorption syndrome" EXACT [OMIM:250900] synonym: "oasthouse urine disease" RELATED [OMIM:250900] synonym: "Smith-strang disease" RELATED [OMIM:250900] +xref: icd11.foundation:1061270147 {source="MONDO:equivalentTo"} xref: MESH:C562682 {source="MONDO:equivalentTo"} xref: OMIM:250900 {source="MONDO:equivalentTo"} xref: SCTID:45812003 {source="MONDO:equivalentTo"} @@ -194976,6 +196508,7 @@ synonym: "MGCA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:250950] xref: DOID:0110002 {source="MONDO:equivalentTo"} xref: GARD:10321 {source="Orphanet:67046"} xref: ICD10CM:E71.1 {source="Orphanet:67046/attributed", source="Orphanet:67046/ntbt", source="DOID:0110002", source="Orphanet:67046"} +xref: icd11.foundation:899935975 {source="MONDO:equivalentTo"} xref: MESH:C562801 {source="MONDO:equivalentTo"} xref: NCIT:C98683 {source="MONDO:equivalentTo"} xref: OMIM:250950 {source="Orphanet:67046/e", source="MONDO:equivalentTo", source="DOID:0110002", source="Orphanet:67046"} @@ -195012,6 +196545,7 @@ synonym: "Not otherwise specified 3-MGA-Uria type" RELATED [GARD:0010342] xref: DOID:0110006 {source="MONDO:equivalentTo"} xref: GARD:10342 {source="Orphanet:67048"} xref: ICD10CM:E71.1 {source="Orphanet:67048/attributed", source="Orphanet:67048/ntbt", source="Orphanet:67048"} +xref: icd11.foundation:185382411 {source="MONDO:equivalentTo"} xref: MESH:C565393 {source="MONDO:equivalentTo"} xref: OMIM:250951 {source="DOID:0110006", source="GARD:0010342", source="Orphanet:67048/e", source="MONDO:equivalentTo", source="Orphanet:67048"} xref: Orphanet:67048 {source="DOID:0110006", source="GARD:0010342", source="MONDO:equivalentTo", source="OMIM:250951"} @@ -195179,6 +196713,7 @@ synonym: "microcephalic primordial dwarfism Toriello type" RELATED [GARD:0003602 synonym: "microcephalic primordial dwarfism, Toriello type" EXACT [OMIM:251190] xref: GARD:3602 {source="Orphanet:2643"} xref: ICD10CM:Q87.1 {source="Orphanet:2643/attributed", source="Orphanet:2643/ntbt", source="Orphanet:2643"} +xref: icd11.foundation:279033035 {source="MONDO:equivalentTo"} xref: MESH:C537321 {source="Orphanet:2643", source="MONDO:equivalentTo", source="Orphanet:2643/e"} xref: OMIM:251190 {source="Orphanet:2643", source="MONDO:equivalentTo", source="Orphanet:2643/e"} xref: Orphanet:2643 {source="OMIM:251190", source="MONDO:equivalentTo"} @@ -195382,6 +196917,7 @@ synonym: "Seemanova syndrome type 2" EXACT [Orphanet:647] xref: DOID:7400 {source="MONDO:equivalentTo"} xref: GARD:3904 {source="Orphanet:647"} xref: ICD10CM:Q87.8 {source="Orphanet:647/attributed", source="Orphanet:647/ntbt", source="Orphanet:647"} +xref: icd11.foundation:1925662580 {source="MONDO:equivalentTo"} xref: MedDRA:10067857 {source="Orphanet:647", source="Orphanet:647/e"} xref: MESH:C531759 {source="Orphanet:647", source="Orphanet:647/e"} xref: MESH:D049932 {source="DOID:7400", source="Orphanet:647", source="MONDO:equivalentTo", source="Orphanet:647/e"} @@ -195954,6 +197490,7 @@ subset: rare synonym: "Lisker-Garcia-Ramos syndrome" EXACT [Orphanet:2400] synonym: "motor neuropathy, peripheral, with dysautonomia" RELATED [OMIM:252320] xref: GARD:3791 {source="Orphanet:2400"} +xref: icd11.foundation:1468523039 {source="MONDO:equivalentTo"} xref: MESH:C536988 {source="Orphanet:2400", source="MONDO:equivalentTo", source="Orphanet:2400/e"} xref: OMIM:252320 {source="Orphanet:2400", source="MONDO:equivalentTo", source="Orphanet:2400/e"} xref: Orphanet:2400 {source="MONDO:equivalentTo", source="OMIM:252320"} @@ -196156,6 +197693,7 @@ synonym: "sulfamidase deficiency" RELATED [OMIM:252900] xref: DOID:0111395 {source="MONDO:equivalentTo"} xref: GARD:7071 {source="Orphanet:79269"} xref: ICD10CM:E76.2 {source="Orphanet:79269/attributed", source="Orphanet:79269/ntbt", source="Orphanet:79269"} +xref: icd11.foundation:182200345 {source="MONDO:equivalentTo"} xref: NCIT:C84897 {source="MONDO:equivalentTo"} xref: OMIM:252900 {source="Orphanet:79269/e", source="MONDO:equivalentTo", source="Orphanet:79269"} xref: Orphanet:581 {source="OMIM:252900"} @@ -196202,6 +197740,7 @@ synonym: "Sanfilippo syndrome type B" EXACT [OMIM:252920] xref: DOID:0111394 {source="MONDO:equivalentTo"} xref: GARD:7072 {source="Orphanet:79270"} xref: ICD10CM:E76.2 {source="Orphanet:79270/attributed", source="Orphanet:79270/ntbt", source="Orphanet:79270"} +xref: icd11.foundation:117303909 {source="MONDO:equivalentTo"} xref: NCIT:C84898 {source="MONDO:equivalentTo"} xref: OMIM:252920 {source="Orphanet:79270", source="MONDO:equivalentTo", source="Orphanet:79270/e"} xref: Orphanet:581 {source="OMIM:252920"} @@ -196245,6 +197784,7 @@ synonym: "Sanfilippo syndrome type C" EXACT [OMIM:252930] xref: DOID:0111393 {source="MONDO:equivalentTo"} xref: GARD:7073 {source="Orphanet:79271"} xref: ICD10CM:E76.2 {source="Orphanet:79271", source="Orphanet:79271/attributed", source="Orphanet:79271/ntbt"} +xref: icd11.foundation:1755913480 {source="MONDO:equivalentTo"} xref: NCIT:C84899 {source="MONDO:equivalentTo"} xref: OMIM:252930 {source="MONDO:equivalentTo", source="Orphanet:79271", source="Orphanet:79271/e"} xref: Orphanet:581 {source="OMIM:252930"} @@ -196287,6 +197827,7 @@ synonym: "Sanfilippo syndrome type D" EXACT CLINGEN_LABEL [OMIM:252940] xref: DOID:0111402 {source="MONDO:equivalentTo"} xref: GARD:7074 {source="Orphanet:79272"} xref: ICD10CM:E76.2 {source="Orphanet:79272", source="Orphanet:79272/attributed", source="Orphanet:79272/ntbt"} +xref: icd11.foundation:1780990193 {source="MONDO:equivalentTo"} xref: NCIT:C84900 {source="MONDO:equivalentTo"} xref: OMIM:252940 {source="MONDO:equivalentTo", source="Orphanet:79272", source="Orphanet:79272/e"} xref: Orphanet:581 {source="OMIM:252940"} @@ -196327,6 +197868,7 @@ synonym: "N-acetylgalactosamine-6-sulfate sulfatase deficiency" EXACT [Orphanet: xref: DOID:0111391 {source="MONDO:equivalentTo"} xref: GARD:3785 {source="Orphanet:309297"} xref: ICD10CM:E76.2 {source="Orphanet:309297", source="Orphanet:309297/attributed", source="Orphanet:309297/ntbt"} +xref: icd11.foundation:1919173641 {source="MONDO:equivalentTo"} xref: NCIT:C84901 {source="MONDO:equivalentTo"} xref: OMIM:253000 {source="MONDO:equivalentTo", source="Orphanet:309297", source="Orphanet:309297/e"} xref: Orphanet:309297 {source="MONDO:equivalentTo", source="OMIM:253000"} @@ -196367,6 +197909,7 @@ synonym: "mucopolysaccharidosis, type IVB" RELATED [OMIM:253010] xref: DOID:0111392 {source="MONDO:equivalentTo"} xref: GARD:3786 {source="Orphanet:309310"} xref: ICD10CM:E76.2 {source="Orphanet:309310", source="Orphanet:309310/attributed", source="Orphanet:309310/ntbt"} +xref: icd11.foundation:1479415032 {source="MONDO:equivalentTo"} xref: NCIT:C84902 {source="MONDO:equivalentTo"} xref: OMIM:253010 {source="MONDO:equivalentTo", source="Orphanet:309310", source="Orphanet:309310/e"} xref: Orphanet:309310 {source="MONDO:equivalentTo", source="OMIM:253010"} @@ -196415,6 +197958,7 @@ synonym: "N-acetylgalactosamine-4-sulfatase deficiency" RELATED [OMIM:253200] xref: DOID:12800 {source="MONDO:equivalentTo"} xref: GARD:7095 {source="Orphanet:583"} xref: ICD10CM:E76.2 {source="Orphanet:583/inclusion", source="Orphanet:583/ntbt", source="Orphanet:583"} +xref: icd11.foundation:1288379621 {source="MONDO:equivalentTo"} xref: icd11.foundation:1288379621 {source="MONDO:equivalentTo", source="Orphanet:583"} xref: MedDRA:10056892 {source="Orphanet:583/e", source="Orphanet:583"} xref: MESH:D009087 {source="DOID:12800", source="Orphanet:583/e", source="MONDO:equivalentTo", source="Orphanet:583"} @@ -196473,6 +198017,7 @@ xref: DOID:12803 {source="MONDO:equivalentTo"} xref: GARD:7096 {source="Orphanet:584"} xref: ICD10CM:E76.2 {source="Orphanet:584/ntbt", source="Orphanet:584/inclusion", source="Orphanet:584"} xref: ICD10CM:E76.29 {source="DOID:12803"} +xref: icd11.foundation:1563668250 {source="MONDO:equivalentTo"} xref: MedDRA:10056893 {source="Orphanet:584/e", source="Orphanet:584"} xref: MESH:D016538 {source="Orphanet:584/e", source="DOID:12803", source="MONDO:equivalentTo", source="Orphanet:584"} xref: NCIT:C84903 {source="DOID:12803", source="MONDO:equivalentTo"} @@ -196523,6 +198068,7 @@ synonym: "pericardial constriction-growth failure syndrome" EXACT [Orphanet:2576 xref: DOID:0050436 {source="MONDO:equivalentTo"} xref: GARD:95 {source="Orphanet:2576"} xref: ICD10CM:Q87.1 {source="Orphanet:2576/attributed", source="Orphanet:2576/ntbt", source="Orphanet:2576"} +xref: icd11.foundation:1167260635 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538604 {source="Orphanet:2576", source="Orphanet:2576/e"} xref: MESH:D050336 {source="Orphanet:2576", source="DOID:0050436", source="MONDO:equivalentTo", source="Orphanet:2576/e"} @@ -197271,6 +198817,7 @@ xref: GARD:7122 {source="Orphanet:589"} xref: ICD10CM:G70.0 {source="DOID:437", source="Orphanet:589", source="MONDO:equivalentTo", source="Orphanet:589/e"} xref: ICD10CM:G70.00 {source="DOID:437"} xref: icd11.foundation:1270100227 {source="Orphanet:589", source="MONDO:equivalentTo"} +xref: icd11.foundation:1270100227 {source="MONDO:equivalentTo"} xref: ICD9:358.0 {source="EFO:0004991", source="DOID:437", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:358.00 {source="DOID:437", source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10028417 {source="Orphanet:589", source="Orphanet:589/e"} @@ -197433,6 +198980,8 @@ xref: EFO:1001051 {source="MONDO:equivalentTo"} xref: GARD:3863 {source="Orphanet:2584"} xref: ICD10CM:C84.0 {source="Orphanet:2584", source="Orphanet:2584/ntbt", source="MONDO:equivalentTo", source="DOID:8691"} xref: ICD10CM:C84.00 {source="DOID:8691"} +xref: icd11.foundation:876349035 {source="MONDO:equivalentTo"} +xref: icd11.foundation:901411509 {source="MONDO:equivalentTo"} xref: ICD9:202.1 {source="DOID:8691", source="EFO:1001051"} xref: ICDO:9700/3 {source="NCIT:C3246"} xref: MedDRA:10028483 {source="EFO:1001051"} @@ -197485,6 +199034,8 @@ xref: EFO:0002430 {source="MONDO:equivalentTo"} xref: GARD:8618 {source="Orphanet:824"} xref: ICD10CM:D47.4 {source="DOID:4971", source="Orphanet:824", source="Orphanet:824/ntbt"} xref: ICD10CM:D75.81 {source="DOID:4971"} +xref: icd11.foundation:1407285327 {source="MONDO:equivalentTo"} +xref: icd11.foundation:336704235 {source="MONDO:equivalentTo"} xref: icd11.foundation:336704235 {source="MONDO:equivalentTo", source="Orphanet:824"} xref: ICD9:238.76 {source="DOID:4971"} xref: ICD9:289.83 {source="DOID:4971"} @@ -197543,7 +199094,9 @@ xref: EFO:0001378 {source="DOID:9538", source="MONDO:equivalentTo"} xref: GARD:7108 {source="Orphanet:29073"} xref: ICD10CM:C90.0 {source="Orphanet:29073", source="DOID:9538", source="MONDO:equivalentTo", source="Orphanet:29073/e"} xref: ICD10CM:C90.00 {source="DOID:9538"} +xref: icd11.foundation:1582389689 {source="MONDO:equivalentTo"} xref: icd11.foundation:526287100 {source="Orphanet:29073", source="MONDO:equivalentTo"} +xref: icd11.foundation:526287100 {source="MONDO:equivalentTo"} xref: ICD9:203.0 {source="DOID:9538", source="EFO:0001378"} xref: ICDO:9732/3 {source="NCIT:C3242"} xref: MedDRA:10028228 {source="Orphanet:29073", source="Orphanet:29073/e"} @@ -197583,6 +199136,7 @@ synonym: "MPOD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:254600] synonym: "myeloperoxidase deficiency" EXACT [MONDO:Lexical, OMIM:254600] xref: GARD:3868 {source="Orphanet:2587"} xref: ICD10CM:E80.3 {source="Orphanet:2587/attributed", source="Orphanet:2587/ntbt", source="Orphanet:2587"} +xref: icd11.foundation:1933575033 {source="MONDO:equivalentTo"} xref: ICD9:288.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562864 {source="MONDO:equivalentTo"} xref: OMIM:254600 {source="Orphanet:2587", source="MONDO:equivalentTo", source="Orphanet:2587/e"} @@ -197628,6 +199182,7 @@ xref: DOID:4890 {source="MONDO:equivalentTo"} xref: EFO:0006572 {source="MONDO:equivalentTo"} xref: GARD:6808 {source="Orphanet:307"} xref: ICD10CM:G40.3 {source="Orphanet:307", source="Orphanet:307/attributed", source="Orphanet:307/ntbt"} +xref: icd11.foundation:1014397110 {source="MONDO:equivalentTo"} xref: icd11.foundation:1014397110 {source="MONDO:equivalentTo", source="Orphanet:307"} xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10071082 {source="Orphanet:307", source="Orphanet:307/e"} @@ -198120,6 +199675,7 @@ synonym: "myosclerosis, congenital" EXACT [OMIM:255600, OMIM:genemap2] synonym: "myosclerosis, congenital, of Lowenthal" RELATED [OMIM:255600] xref: GARD:17325 {source="Orphanet:289380"} xref: ICD10CM:G71.8 {source="Orphanet:289380/attributed", source="Orphanet:289380/ntbt", source="Orphanet:289380"} +xref: icd11.foundation:2105106550 {source="MONDO:equivalentTo"} xref: MedDRA:10064584 {source="Orphanet:289380/e", source="Orphanet:289380"} xref: MESH:C564968 {source="MONDO:equivalentTo"} xref: OMIM:255600 {source="Orphanet:289380/e", source="MONDO:equivalentTo", source="Orphanet:289380"} @@ -198255,6 +199811,7 @@ synonym: "intracardiac myxoma" RELATED [GARD:0000139] synonym: "MYXOMA, intracardiac" RELATED [OMIM:255960] xref: GARD:139 {source="Orphanet:615"} xref: ICD10CM:D15.1 {source="MONDO:relatedTo", source="Orphanet:615", source="Orphanet:615/attributed", source="Orphanet:615/ntbt"} +xref: icd11.foundation:1491085859 {source="MONDO:equivalentTo"} xref: MESH:C538262 {source="MONDO:equivalentTo", source="Orphanet:615", source="Orphanet:615/e"} xref: OMIM:255960 {source="MONDO:equivalentTo", source="Orphanet:615", source="Orphanet:615/e"} xref: Orphanet:615 {source="MONDO:equivalentTo", source="OMIM:255960"} @@ -198387,6 +199944,7 @@ xref: GARD:6877 {source="Orphanet:506"} xref: ICD10CM:G31.8 {source="Orphanet:506/inclusion", source="Orphanet:506", source="Orphanet:506/ntbt"} xref: ICD10CM:G31.82 {source="DOID:3652"} xref: icd11.foundation:672871576 {source="MONDO:equivalentTo", source="Orphanet:506"} +xref: icd11.foundation:672871576 {source="MONDO:equivalentTo"} xref: ICD9:330.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10062950 {source="Orphanet:506", source="Orphanet:506/e"} xref: MESH:D007888 {source="DOID:3652", source="MONDO:equivalentTo", source="Orphanet:506", source="Orphanet:506/e"} @@ -198779,6 +200337,7 @@ synonym: "NS" EXACT ABBREVIATION [OMIM:256500, Orphanet:634] xref: DOID:0050474 {source="MONDO:equivalentTo"} xref: GARD:7182 {source="Orphanet:634"} xref: ICD10CM:Q80.8 {source="Orphanet:634", source="Orphanet:634/attributed", source="Orphanet:634/ntbt"} +xref: icd11.foundation:1797493665 {source="MONDO:equivalentTo"} xref: MedDRA:10062909 {source="Orphanet:634", source="Orphanet:634/e"} xref: MESH:D056770 {source="DOID:0050474", source="MONDO:equivalentTo"} xref: NCIT:C84922 {source="DOID:0050474", source="MONDO:equivalentTo"} @@ -198859,6 +200418,7 @@ synonym: "protective Protein/Cathepsin a deficiency" RELATED [OMIM:256540] xref: DOID:0080540 {source="MONDO:equivalentTo"} xref: GARD:3953 {source="Orphanet:351"} xref: ICD10CM:E77.1 {source="Orphanet:351", source="Orphanet:351/attributed", source="Orphanet:351/ntbt"} +xref: icd11.foundation:1838660035 {source="MONDO:equivalentTo"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536411 {source="Orphanet:351/e", source="MONDO:equivalentTo", source="Orphanet:351"} xref: NCIT:C129928 {source="MONDO:equivalentTo"} @@ -198919,6 +200479,7 @@ synonym: "sialidosis, type II" RELATED [GARD:0007183] xref: DOID:3343 {source="MONDO:equivalentTo"} xref: GARD:7183 {source="Orphanet:87876"} xref: ICD10CM:E77.1 {source="Orphanet:87876/attributed", source="Orphanet:87876/ntbt", source="DOID:3343", source="Orphanet:87876"} +xref: icd11.foundation:1855856697 {source="MONDO:equivalentTo"} xref: MESH:C562606 {source="MONDO:equivalentTo"} xref: MESH:D009081 {source="DOID:3343"} xref: NCIT:C125596 {source="MONDO:equivalentTo"} @@ -199024,6 +200585,7 @@ synonym: "Elejalde disease" EXACT [Orphanet:33445] synonym: "neuroectodermal melanolysosomal disease" EXACT [OMIM:256710] xref: GARD:16630 {source="Orphanet:33445"} xref: ICD10CM:L81.4 {source="Orphanet:33445", source="Orphanet:33445/attributed", source="Orphanet:33445/ntbt"} +xref: icd11.foundation:771734461 {source="MONDO:equivalentTo"} xref: MESH:C536203 {source="Orphanet:33445", source="MONDO:equivalentTo", source="Orphanet:33445/e"} xref: OMIM:256710 {source="Orphanet:33445", source="MONDO:equivalentTo", source="Orphanet:33445/e"} xref: Orphanet:33445 {source="MONDO:equivalentTo", source="OMIM:256710"} @@ -199233,6 +200795,7 @@ synonym: "HSAN with spastic paraplegia" EXACT [Orphanet:139578] synonym: "neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive" RELATED [OMIM:256840] xref: GARD:16959 {source="Orphanet:139578"} xref: ICD10CM:G60.8 {source="Orphanet:139578", source="Orphanet:139578/attributed", source="Orphanet:139578/ntbt"} +xref: icd11.foundation:813709854 {source="MONDO:equivalentTo"} xref: MESH:C564948 {source="MONDO:equivalentTo"} xref: OMIM:256840 {source="Orphanet:139578", source="MONDO:equivalentTo", source="Orphanet:139578/e"} xref: Orphanet:139578 {source="MONDO:equivalentTo", source="OMIM:256840"} @@ -199385,6 +200948,7 @@ synonym: "sphingomyelinase deficiency" RELATED [OMIM:257200] xref: DOID:0070111 {source="MONDO:equivalentTo"} xref: GARD:7206 {source="Orphanet:77292"} xref: ICD10CM:E75.2 {source="DOID:0070111", source="Orphanet:77292/inclusion", source="Orphanet:77292", source="Orphanet:77292/ntbt"} +xref: icd11.foundation:530611243 {source="MONDO:equivalentTo"} xref: MESH:D052536 {source="MONDO:equivalentTo", source="Orphanet:77292", source="Orphanet:77292/e"} xref: NCIT:C126561 {source="MONDO:equivalentTo"} xref: OMIM:257200 {source="DOID:0070111", source="MONDO:equivalentTo", source="Orphanet:77292", source="Orphanet:77292/e"} @@ -199763,6 +201327,7 @@ synonym: "Cecato de Lima-Pinheiro syndrome" EXACT [Orphanet:2718] synonym: "oculotrichodysplasia" EXACT [MONDO:Lexical, OMIM:257960] synonym: "OTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:257960] xref: GARD:16607 {source="Orphanet:2718"} +xref: icd11.foundation:1202969811 {source="MONDO:equivalentTo"} xref: MESH:C564934 {source="MONDO:equivalentTo"} xref: OMIM:257960 {source="Orphanet:2718/e", source="MONDO:equivalentTo", source="Orphanet:2718"} xref: Orphanet:2718 {source="MONDO:equivalentTo", source="OMIM:257960"} @@ -199808,6 +201373,7 @@ synonym: "odontoonychodermal dysplasia" RELATED [MONDO:Lexical, OMIM:257980] synonym: "OODD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:257980, Orphanet:2721] xref: GARD:4054 {source="Orphanet:2721"} xref: ICD10CM:Q82.4 {source="Orphanet:2721", source="Orphanet:2721/attributed", source="Orphanet:2721/ntbt"} +xref: icd11.foundation:1256237872 {source="MONDO:equivalentTo"} xref: MESH:C537742 {source="MONDO:equivalentTo", source="Orphanet:2721", source="Orphanet:2721/e"} xref: OMIM:257980 {source="MONDO:equivalentTo", source="Orphanet:2721", source="Orphanet:2721/e"} xref: Orphanet:2721 {source="OMIM:257980", source="MONDO:equivalentTo"} @@ -199844,6 +201410,7 @@ xref: GARD:4080 {source="Orphanet:93929"} xref: HP:0010475 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q64.1 {source="Orphanet:93929/attributed", source="Orphanet:93929/ntbt", source="Orphanet:93929"} xref: icd11.foundation:2004612103 {source="Orphanet:93929", source="MONDO:equivalentTo"} +xref: icd11.foundation:2004612103 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10067424 {source="Orphanet:93929", source="Orphanet:93929/e"} xref: MESH:C537748 {source="MONDO:equivalentTo"} @@ -199915,6 +201482,7 @@ synonym: "postaxial polydactyly and mental retardation" RELATED DEPRECATED [OMIM synonym: "postaxial polydactyly-intellectual disability syndrome" EXACT [Orphanet:2920] xref: GARD:4069 {source="Orphanet:2920"} xref: ICD10CM:Q87.2 {source="Orphanet:2920", source="Orphanet:2920/attributed", source="Orphanet:2920/ntbt"} +xref: icd11.foundation:2072460929 {source="MONDO:equivalentTo"} xref: MESH:C564931 {source="MONDO:equivalentTo"} xref: OMIM:258200 {source="MONDO:equivalentTo", source="Orphanet:2920", source="Orphanet:2920/e"} xref: Orphanet:2920 {source="OMIM:258200", source="MONDO:equivalentTo"} @@ -199961,6 +201529,7 @@ synonym: "omodysplasia, generalized form" RELATED [OMIM:258315] xref: DOID:0080844 {source="MONDO:equivalentTo"} xref: GARD:4076 {source="Orphanet:93329"} xref: ICD10CM:Q78.8 {source="Orphanet:93329/attributed", source="Orphanet:93329/ntbt", source="Orphanet:93329"} +xref: icd11.foundation:350802889 {source="MONDO:equivalentTo"} xref: OMIM:258315 {source="Orphanet:93329/e", source="MONDO:equivalentTo", source="Orphanet:93329"} xref: Orphanet:2733 {source="OMIM:258315"} xref: Orphanet:93329 {source="MONDO:equivalentTo", source="OMIM:258315"} @@ -200075,6 +201644,7 @@ synonym: "opsismodysplasia" EXACT [MONDO:Lexical, OMIM:258480] synonym: "OPSMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:258480] xref: GARD:4098 {source="Orphanet:2746"} xref: ICD10CM:Q78.8 {source="Orphanet:2746", source="Orphanet:2746/attributed", source="Orphanet:2746/ntbt"} +xref: icd11.foundation:2147268863 {source="MONDO:equivalentTo"} xref: MESH:C537122 {source="MONDO:equivalentTo", source="Orphanet:2746", source="Orphanet:2746/e"} xref: OMIM:258480 {source="MONDO:equivalentTo", source="Orphanet:2746", source="Orphanet:2746/e"} xref: Orphanet:2746 {source="MONDO:equivalentTo", source="OMIM:258480"} @@ -200140,6 +201710,7 @@ synonym: "optic atrophy, infantile, with chorea and spastic paraplegia" RELATED xref: DOID:0110004 {source="MONDO:equivalentTo"} xref: GARD:5663 {source="Orphanet:67047"} xref: ICD10CM:E71.1 {source="Orphanet:67047/attributed", source="Orphanet:67047/ntbt", source="DOID:0110004", source="Orphanet:67047"} +xref: icd11.foundation:535412248 {source="MONDO:equivalentTo"} xref: MESH:C535311 {source="Orphanet:67047/e", source="MONDO:equivalentTo", source="Orphanet:67047"} xref: OMIM:258501 {source="Orphanet:67047/e", source="MONDO:equivalentTo", source="DOID:0110004", source="Orphanet:67047"} xref: Orphanet:67047 {source="MONDO:equivalentTo", source="OMIM:258501", source="DOID:0110004"} @@ -200506,6 +202077,7 @@ subset: rare synonym: "osteodysplasia familial Anderson type" RELATED [GARD:0004136] synonym: "osteodysplasia, familial, Anderson type" RELATED [OMIM:259250] xref: GARD:4136 {source="Orphanet:2769"} +xref: icd11.foundation:107132680 {source="MONDO:equivalentTo"} xref: MESH:C564923 {source="MONDO:equivalentTo"} xref: OMIM:259250 {source="Orphanet:2769/e", source="MONDO:equivalentTo", source="Orphanet:2769"} xref: Orphanet:2769 {source="MONDO:equivalentTo", source="OMIM:259250"} @@ -200580,6 +202152,7 @@ synonym: "severe osteogenesis imperfecta" EXACT [Orphanet:216812] xref: DOID:0110339 {source="MONDO:equivalentTo"} xref: GARD:8695 {source="Orphanet:216812"} xref: ICD10CM:Q78.0 {source="Orphanet:216812/attributed", source="Orphanet:216812/ntbt", source="DOID:0110339", source="Orphanet:216812"} +xref: icd11.foundation:629873920 {source="MONDO:equivalentTo"} xref: MESH:C536044 {source="Orphanet:216812", source="MONDO:equivalentTo", source="Orphanet:216812/e"} xref: NCIT:C99002 {source="MONDO:equivalentTo"} xref: OMIM:259420 {source="DOID:0110339", source="Orphanet:216812", source="MONDO:equivalentTo", source="Orphanet:216812/e"} @@ -200743,6 +202316,7 @@ synonym: "osteolysis, distal, with short stature, mental retardation, and charac synonym: "osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance" RELATED DEPRECATED [GARD:0004144] synonym: "Petit-Fryns syndrome" EXACT [Orphanet:2776] xref: GARD:4299 {source="Orphanet:2776"} +xref: icd11.foundation:1878981266 {source="MONDO:equivalentTo"} xref: MESH:C536052 {source="MONDO:equivalentTo"} xref: OMIM:259610 {source="MONDO:equivalentTo", source="Orphanet:2776", source="Orphanet:2776/e", source="GARD:0004144"} xref: Orphanet:2776 {source="MONDO:equivalentTo", source="OMIM:259610"} @@ -200791,6 +202365,7 @@ xref: DOID:0060645 {source="MONDO:equivalentTo"} xref: GARD:6108 {source="Orphanet:324964"} xref: HP:0002754 {source="MONDO:otherHierarchy"} xref: ICD10CM:M86.3 {source="Orphanet:324964", source="DOID:0060645", source="Orphanet:324964/e"} +xref: icd11.foundation:1256384247 {source="MONDO:equivalentTo"} xref: MESH:C535456 {source="MONDO:equivalentTo"} xref: NCIT:C119042 {source="MONDO:equivalentTo"} xref: OMIMPS:609628 {source="MONDO:equivalentTo"} @@ -201051,6 +202626,7 @@ synonym: "Raine syndrome" EXACT [Orphanet:1832] synonym: "RNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:259775] xref: GARD:282 {source="Orphanet:1832"} xref: ICD10CM:Q78.2 {source="Orphanet:1832", source="Orphanet:1832/attributed", source="Orphanet:1832/ntbt"} +xref: icd11.foundation:1306493470 {source="MONDO:equivalentTo"} xref: MESH:C535282 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: MESH:C564916 {source="MONDO:equivalentTo"} xref: OMIM:259660 {source="MONDO:equivalentObsolete"} @@ -201119,6 +202695,7 @@ synonym: "serine:pyruvate aminotransferase deficiency" RELATED [OMIM:259900] xref: DOID:0111670 {source="MONDO:equivalentTo"} xref: GARD:2835 {source="Orphanet:93598"} xref: ICD10CM:E74.8 {source="Orphanet:93598", source="Orphanet:93598/attributed", source="Orphanet:93598/ntbt"} +xref: icd11.foundation:692812009 {source="MONDO:equivalentTo"} xref: icd11.foundation:692812009 {source="MONDO:equivalentTo", source="Orphanet:93598"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536414 {source="MONDO:equivalentTo", source="Orphanet:93598", source="Orphanet:93598/e"} @@ -201162,6 +202739,7 @@ synonym: "primary hyperoxaluria type II" EXACT [NCIT:C123213] xref: DOID:0111671 {source="MONDO:equivalentTo"} xref: GARD:2836 {source="Orphanet:93599"} xref: ICD10CM:E74.8 {source="Orphanet:93599", source="Orphanet:93599/attributed", source="Orphanet:93599/ntbt"} +xref: icd11.foundation:347920969 {source="MONDO:equivalentTo"} xref: ICD9:271.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536415 {source="MONDO:equivalentTo"} xref: NCIT:C123213 {source="MONDO:equivalentTo"} @@ -201281,6 +202859,7 @@ synonym: "parkinsonian-pyramidal syndrome" EXACT CLINGEN_LABEL [DOID:0060372, OM xref: DOID:0060372 {source="MONDO:equivalentTo"} xref: GARD:9175 {source="Orphanet:171695"} xref: ICD10CM:G20 {source="Orphanet:171695", source="Orphanet:171695/attributed", source="Orphanet:171695/ntbt"} +xref: icd11.foundation:1128311778 {source="MONDO:equivalentTo"} xref: MESH:C538104 {source="MONDO:equivalentTo"} xref: OMIM:260300 {source="MONDO:equivalentTo", source="Orphanet:171695", source="DOID:0060372", source="Orphanet:171695/e"} xref: Orphanet:171695 {source="MONDO:equivalentTo", source="OMIM:260300"} @@ -201404,6 +202983,7 @@ xref: DOID:0060479 {source="MONDO:equivalentTo"} xref: DOID:0080023 {source="MONDO:equivalentObsolete"} xref: GARD:4863 {source="Orphanet:811"} xref: ICD10CM:D61.0 {source="Orphanet:811/inclusion", source="Orphanet:811/ntbt", source="Orphanet:811", source="DOID:0060479"} +xref: icd11.foundation:232885463 {source="MONDO:equivalentTo"} xref: MedDRA:10067940 {source="Orphanet:811", source="Orphanet:811/e"} xref: MESH:C537330 {source="DOID:0060479", source="MONDO:equivalentTo"} xref: NCIT:C61235 {source="MONDO:equivalentTo"} @@ -201459,6 +203039,7 @@ xref: EFO:0007502 {source="MONDO:equivalentTo"} xref: GARD:7708 {source="Orphanet:2806"} xref: ICD10CM:A81.1 {source="MONDO:equivalentTo", source="Orphanet:2806/ntbt", source="DOID:8970", source="Orphanet:2806"} xref: icd11.foundation:1098683540 {source="MONDO:equivalentTo", source="Orphanet:2806"} +xref: icd11.foundation:1098683540 {source="MONDO:equivalentTo"} xref: ICD9:046.2 {source="DOID:8970"} xref: MESH:D013344 {source="EFO:0007502", source="MONDO:equivalentTo", source="DOID:8970"} xref: NCIT:C85171 {source="MONDO:equivalentTo", source="DOID:8970"} @@ -201511,6 +203092,7 @@ xref: DOID:2626 {source="MONDO:equivalentTo"} xref: EFO:1000177 {source="MONDO:equivalentTo"} xref: GARD:4214 {source="Orphanet:2807"} xref: ICD10CM:D33.0 {source="Orphanet:2807/ntbt", source="Orphanet:2807"} +xref: icd11.foundation:1696749652 {source="MONDO:equivalentTo"} xref: ICDO:9390/0 {source="NCIT:C3698"} xref: MedDRA:10008777 {source="Orphanet:2807/e", source="Orphanet:2807"} xref: MESH:D020288 {source="Orphanet:2807/e", source="MONDO:equivalentTo", source="DOID:2626", source="Orphanet:2807"} @@ -201618,6 +203200,7 @@ synonym: "progressive encephalopathy-optic atrophy syndrome" EXACT [Orphanet:283 xref: DOID:0080539 {source="MONDO:equivalentTo"} xref: GARD:4264 {source="Orphanet:2836"} xref: ICD10CM:G31.8 {source="Orphanet:2836", source="Orphanet:2836/attributed", source="Orphanet:2836/ntbt"} +xref: icd11.foundation:976613527 {source="MONDO:equivalentTo"} xref: MESH:C536317 {source="Orphanet:2836/e", source="MONDO:equivalentTo", source="Orphanet:2836"} xref: OMIM:260565 {source="Orphanet:2836/e", source="MONDO:equivalentTo", source="Orphanet:2836"} xref: Orphanet:2836 {source="MONDO:equivalentTo", source="OMIM:260565"} @@ -201908,6 +203491,7 @@ synonym: "juvenile megaloblastic Anemia" EXACT [NCIT:C131677] synonym: "selective cobalamin malabsorption with proteinuria" EXACT [Orphanet:35858] xref: GARD:7006 {source="Orphanet:35858"} xref: ICD10CM:D51.1 {source="Orphanet:35858/attributed", source="Orphanet:35858/ntbt", source="Orphanet:35858"} +xref: icd11.foundation:375969525 {source="MONDO:equivalentTo"} xref: ICD9:281.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538556 {source="MONDO:equivalentTo"} xref: OMIMPS:261100 {source="Orphanet:35858", source="MONDO:equivalentTo", source="Orphanet:35858/e"} @@ -202031,6 +203615,7 @@ synonym: "pseudohermaphroditism, Male internal" RELATED [OMIM:261550] xref: DOID:0050791 {source="MONDO:equivalentTo"} xref: GARD:8435 {source="Orphanet:2856"} xref: ICD10CM:Q55.8 {source="Orphanet:2856", source="Orphanet:2856/attributed", source="Orphanet:2856/ntbt"} +xref: icd11.foundation:697796373 {source="MONDO:equivalentTo"} xref: ICD9:752.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536665 {source="MONDO:equivalentTo", source="Orphanet:2856", source="DOID:0050791", source="Orphanet:2856/e"} xref: NCIT:C120188 {source="MONDO:equivalentTo", source="DOID:0050791"} @@ -202131,6 +203716,7 @@ xref: DOID:9281 {source="MONDO:equivalentTo"} xref: GARD:7383 {source="Orphanet:716"} xref: ICD10CM:E70.0 {source="Orphanet:716", source="Orphanet:716/attributed", source="Orphanet:716/ntbt"} xref: ICD10CM:E70.1 {source="Orphanet:716", source="Orphanet:716/attributed", source="Orphanet:716/ntbt"} +xref: icd11.foundation:444122923 {source="MONDO:equivalentTo"} xref: icd11.foundation:444122923 {source="MONDO:equivalentTo", source="Orphanet:716"} xref: ICD9:270.1 {source="DOID:9281"} xref: MedDRA:10034872 {source="Orphanet:716", source="Orphanet:716/e"} @@ -202185,6 +203771,7 @@ synonym: "quinoid dihydropteridine reductase deficiency" RELATED [OMIM:261630] xref: DOID:0081130 {source="MONDO:equivalentTo"} xref: GARD:4319 {source="Orphanet:226"} xref: ICD10CM:E70.1 {source="Orphanet:226/attributed", source="Orphanet:226/ntbt", source="Orphanet:226"} +xref: icd11.foundation:1931239861 {source="MONDO:equivalentTo"} xref: MESH:C537896 {source="Orphanet:226", source="Orphanet:226/e"} xref: NCIT:C138173 {source="MONDO:equivalentTo"} xref: OMIM:261630 {source="Orphanet:226", source="MONDO:equivalentTo", source="Orphanet:226/e"} @@ -202481,6 +204068,7 @@ synonym: "twisted hair" EXACT [OMIM:261900, Orphanet:2889] xref: GARD:4361 {source="Orphanet:2889"} xref: HP:0003777 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q84.1 {source="Orphanet:2889", source="Orphanet:2889/attributed", source="Orphanet:2889/ntbt"} +xref: icd11.foundation:813238041 {source="MONDO:equivalentTo"} xref: MESH:C562485 {source="MONDO:equivalentTo"} xref: OMIM:261900 {source="MONDO:equivalentTo", source="Orphanet:2889", source="Orphanet:2889/e"} xref: Orphanet:2889 {source="OMIM:261900", source="MONDO:equivalentTo"} @@ -202575,6 +204163,7 @@ synonym: "pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic a synonym: "Rabson-Mendenhall syndrome" EXACT [OMIM:262190] xref: GARD:226 {source="Orphanet:769"} xref: ICD10CM:E13 {source="Orphanet:769", source="Orphanet:769/attributed", source="Orphanet:769/ntbt"} +xref: icd11.foundation:1018973126 {source="MONDO:equivalentTo"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D056731 {source="Orphanet:769", source="MONDO:directSiblingOf", source="Orphanet:769/e"} xref: NCIT:C131000 {source="MONDO:equivalentTo"} @@ -202761,6 +204350,7 @@ synonym: "Kowarski syndrome" EXACT [Orphanet:629] synonym: "pituitary dwarfism with normal immunoreactive Growth hormone and Low Somatomedin" RELATED [OMIM:262650] xref: GARD:408 {source="Orphanet:629"} xref: ICD10CM:E23.0 {source="Orphanet:629", source="Orphanet:629/attributed", source="Orphanet:629/ntbt"} +xref: icd11.foundation:1665498704 {source="MONDO:equivalentTo"} xref: MESH:C537505 {source="MONDO:equivalentTo"} xref: OMIM:262650 {source="MONDO:equivalentTo", source="Orphanet:629", source="Orphanet:629/e"} xref: Orphanet:629 {source="MONDO:equivalentTo", source="OMIM:262650"} @@ -202881,6 +204471,7 @@ synonym: "SCTS" EXACT ABBREVIATION [DOID:0111052, MONDO:Lexical, OMIM:262890] xref: DOID:0111052 {source="MONDO:equivalentTo"} xref: GARD:4777 {source="Orphanet:806"} xref: ICD10CM:D69.8 {source="DOID:0111052", source="Orphanet:806/attributed", source="Orphanet:806/ntbt", source="Orphanet:806"} +xref: icd11.foundation:186013982 {source="MONDO:equivalentTo"} xref: MESH:C563120 {source="MONDO:equivalentTo"} xref: OMIM:262890 {source="Orphanet:806/e", source="DOID:0111052", source="MONDO:equivalentTo", source="Orphanet:806"} xref: Orphanet:806 {source="DOID:0111052", source="MONDO:equivalentTo", source="OMIM:262890"} @@ -202970,6 +204561,7 @@ synonym: "polycystic kidney disease, infantile, type I" NARROW [DOID:0110861] xref: DOID:0110861 {source="MONDO:equivalentTo"} xref: GARD:8378 {source="Orphanet:731"} xref: ICD10CM:Q61.1 {source="Orphanet:731", source="Orphanet:731/e", source="DOID:0110861", source="Orphanet:731/specific"} +xref: icd11.foundation:1424110943 {source="MONDO:equivalentTo"} xref: ICD9:753.14 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10036047 {source="Orphanet:731", source="Orphanet:731/e"} xref: MESH:D016891 {source="DOID:0110861"} @@ -203339,6 +204931,7 @@ synonym: "Wildervanck-Smith syndrome" RELATED [GARD:0008410] xref: DOID:0111259 {source="MONDO:equivalentTo"} xref: GARD:8410 {source="Orphanet:246"} xref: ICD10CM:Q75.4 {source="Orphanet:246", source="Orphanet:246/attributed", source="Orphanet:246/ntbt"} +xref: icd11.foundation:70602060 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537680 {source="MONDO:equivalentTo"} xref: NORD:1448 {source="MONDO:NORD"} @@ -203573,6 +205166,7 @@ synonym: "Pseudodiastrophic dwarfism" RELATED [GARD:0009463] synonym: "pseudodiastrophic dysplasia" EXACT [OMIM:264180] xref: GARD:9463 {source="Orphanet:85174"} xref: ICD10CM:Q78.8 {source="Orphanet:85174/attributed", source="Orphanet:85174/ntbt", source="Orphanet:85174"} +xref: icd11.foundation:902021042 {source="MONDO:equivalentTo"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535826 {source="Orphanet:85174/e", source="MONDO:equivalentTo", source="Orphanet:85174"} xref: OMIM:264180 {source="Orphanet:85174/e", source="MONDO:equivalentTo", source="Orphanet:85174"} @@ -203638,6 +205232,7 @@ synonym: "pseudohermaphroditism, Male, with gynecomastia" RELATED [OMIM:264300] xref: DOID:0112248 {source="MONDO:equivalentTo"} xref: GARD:5659 {source="Orphanet:752"} xref: ICD10CM:E29.1 {source="Orphanet:752", source="Orphanet:752/attributed", source="Orphanet:752/ntbt"} +xref: icd11.foundation:887793448 {source="MONDO:equivalentTo"} xref: MESH:C537805 {source="MONDO:equivalentTo"} xref: MESH:C564868 {source="MONDO:equivalentTo"} xref: NCIT:C120203 {source="MONDO:equivalentTo"} @@ -203725,6 +205320,7 @@ synonym: "straight-chain acyl-Coa oxidase deficiency" RELATED [OMIM:264470] xref: DOID:0050797 {source="MONDO:equivalentTo"} xref: GARD:4543 {source="Orphanet:2971"} xref: ICD10CM:E71.3 {source="Orphanet:2971", source="Orphanet:2971/attributed", source="Orphanet:2971/ntbt"} +xref: icd11.foundation:927825451 {source="MONDO:equivalentTo"} xref: ICD9:255.41 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536662 {source="Orphanet:2971", source="DOID:0050797", source="MONDO:equivalentTo", source="Orphanet:2971/e"} xref: NCIT:C170437 {source="MONDO:equivalentTo"} @@ -203821,6 +205417,7 @@ synonym: "pseudovaginal perineoscrotal hypospadias" EXACT [MONDO:Lexical, OMIM:2 synonym: "steroid 5-alpha-reductase deficiency" EXACT [Orphanet:753] xref: GARD:5680 {source="Orphanet:753"} xref: ICD10CM:Q56.1 {source="Orphanet:753", source="Orphanet:753/attributed", source="Orphanet:753/ntbt"} +xref: icd11.foundation:1028755501 {source="MONDO:equivalentTo"} xref: MedDRA:10000029 {source="Orphanet:753", source="Orphanet:753/e"} xref: MESH:C535830 {source="MONDO:equivalentTo"} xref: NCIT:C98699 {source="MONDO:equivalentTo"} @@ -203955,6 +205552,7 @@ synonym: "pterygium Universale" RELATED [OMIM:265000] synonym: "pterygium universale" RELATED [GARD:0007111] xref: GARD:7111 {source="Orphanet:2990"} xref: ICD10CM:Q79.8 {source="Orphanet:2990", source="Orphanet:2990/attributed", source="Orphanet:2990/ntbt"} +xref: icd11.foundation:1502158121 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C101039 {source="MONDO:equivalentTo"} xref: OMIM:265000 {source="Orphanet:2990", source="MONDO:equivalentTo", source="Orphanet:2990/e", source="GARD:0007111"} @@ -204015,6 +205613,7 @@ xref: DOID:12117 {source="MONDO:equivalentTo"} xref: GARD:11894 {source="Orphanet:60025"} xref: ICD10CM:J84.0 {source="Orphanet:60025/ntbt", source="Orphanet:60025/inclusion", source="Orphanet:60025"} xref: ICD10CM:J84.02 {source="DOID:12117", source="MONDO:equivalentTo"} +xref: icd11.foundation:1220010076 {source="MONDO:equivalentTo"} xref: icd11.foundation:1220010076 {source="Orphanet:60025", source="MONDO:equivalentTo"} xref: ICD9:516.2 {source="DOID:12117", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10037315 {source="Orphanet:60025", source="Orphanet:60025/e"} @@ -204147,6 +205746,7 @@ synonym: "pulmonary cystic lymphangiectasis" RELATED [OMIM:265300] synonym: "pulmonary lymphangiomatosis" EXACT [Orphanet:2414] xref: GARD:9900 {source="Orphanet:2414"} xref: ICD10CM:Q33.8 {source="Orphanet:2414", source="Orphanet:2414/attributed", source="Orphanet:2414/ntbt"} +xref: icd11.foundation:2069435755 {source="MONDO:equivalentTo"} xref: MESH:C537727 {source="MONDO:equivalentTo", source="Orphanet:2414", source="Orphanet:2414/e"} xref: NCIT:C99034 {source="MONDO:equivalentTo"} xref: NORD:1054 {source="MONDO:NORD"} @@ -204330,6 +205930,7 @@ synonym: "Pyknodysostosis" EXACT [OMIM:265800, Orphanet:763] xref: DOID:0080038 {source="MONDO:equivalentTo"} xref: GARD:4611 {source="Orphanet:763"} xref: ICD10CM:Q78.8 {source="Orphanet:763", source="Orphanet:763/attributed", source="Orphanet:763/ntbt"} +xref: icd11.foundation:1329974152 {source="MONDO:equivalentTo"} xref: MESH:D058631 {source="Orphanet:763", source="MONDO:equivalentTo", source="Orphanet:763/e"} xref: NCIT:C131187 {source="MONDO:equivalentTo"} xref: NORD:1637 {source="MONDO:NORD"} @@ -204371,6 +205972,7 @@ synonym: "camera syndrome" EXACT [Orphanet:3003] synonym: "pyknoachondrogenesis" EXACT [OMIM:265880] xref: GARD:4610 {source="Orphanet:3003"} xref: ICD10CM:Q78.8 {source="Orphanet:3003/attributed", source="Orphanet:3003/ntbt", source="Orphanet:3003"} +xref: icd11.foundation:588435239 {source="MONDO:equivalentTo"} xref: MESH:C536251 {source="Orphanet:3003", source="MONDO:equivalentTo", source="Orphanet:3003/e"} xref: OMIM:265880 {source="Orphanet:3003", source="MONDO:equivalentTo", source="Orphanet:3003/e"} xref: Orphanet:3003 {source="MONDO:equivalentTo", source="OMIM:265880"} @@ -204405,6 +206007,7 @@ synonym: "Pyle-Cohn syndrome" EXACT [DOID:0080019, Wikipedia:Metaphyseal_dysplas xref: DOID:0080019 {source="MONDO:equivalentTo"} xref: GARD:4612 {source="Orphanet:3005"} xref: ICD10CM:Q78.5 {source="Orphanet:3005/inclusion", source="Orphanet:3005/ntbt", source="Orphanet:3005", source="MONDO:equivalentTo"} +xref: icd11.foundation:651364947 {source="MONDO:equivalentTo"} xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536252 {source="Orphanet:3005", source="MONDO:equivalentTo", source="Orphanet:3005/e"} xref: OMIM:265900 {source="Orphanet:3005", source="MONDO:equivalentTo", source="Orphanet:3005/e"} @@ -204509,6 +206112,7 @@ synonym: "pyroglutamic aciduria" RELATED [OMIM:266130] xref: DOID:0081034 {source="MONDO:equivalentTo"} xref: GARD:17330 {source="Orphanet:289846"} xref: ICD10CM:D55.1 {source="Orphanet:289846", source="Orphanet:289846/attributed", source="Orphanet:289846/ntbt"} +xref: icd11.foundation:2005562438 {source="MONDO:equivalentTo"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:266130 {source="MONDO:equivalentTo", source="Orphanet:289846", source="Orphanet:289846/e"} xref: Orphanet:289846 {source="OMIM:266130", source="MONDO:equivalentTo"} @@ -204731,6 +206335,7 @@ synonym: "gingival fibromatosis combined with cherubism" RELATED [GARD:0007523] synonym: "Ramon syndrome" EXACT [OMIM:266270] xref: GARD:7523 {source="Orphanet:3019"} xref: ICD10CM:Q87.8 {source="Orphanet:3019", source="Orphanet:3019/attributed", source="Orphanet:3019/ntbt"} +xref: icd11.foundation:122538435 {source="MONDO:equivalentTo"} xref: MESH:C535285 {source="MONDO:equivalentTo", source="Orphanet:3019", source="Orphanet:3019/e"} xref: OMIM:266270 {source="MONDO:equivalentTo", source="Orphanet:3019", source="Orphanet:3019/e"} xref: Orphanet:3019 {source="OMIM:266270", source="MONDO:equivalentTo"} @@ -204758,6 +206363,7 @@ synonym: "rapadilino syndrome" EXACT [OMIM:266280] xref: DOID:0050774 {source="MONDO:equivalentTo"} xref: GARD:4637 {source="Orphanet:3021"} xref: ICD10CM:Q87.1 {source="Orphanet:3021/attributed", source="Orphanet:3021/ntbt", source="Orphanet:3021"} +xref: icd11.foundation:1439614760 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535288 {source="Orphanet:3021/e", source="MONDO:equivalentTo", source="Orphanet:3021"} xref: OMIM:266280 {source="DOID:0050774", source="Orphanet:3021/e", source="MONDO:equivalentTo", source="Orphanet:3021"} @@ -205054,6 +206660,7 @@ synonym: "renal hamartomas, nephroblastomatosis, and foetal gigantism" RELATED O xref: DOID:0060476 {source="MONDO:equivalentTo"} xref: GARD:3936 {source="Orphanet:2849"} xref: ICD10CM:Q87.3 {source="DOID:0060476", source="Orphanet:2849/attributed", source="Orphanet:2849/ntbt", source="Orphanet:2849"} +xref: icd11.foundation:795682441 {source="MONDO:equivalentTo"} xref: MESH:C536399 {source="DOID:0060476", source="MONDO:equivalentTo"} xref: NCIT:C103144 {source="MONDO:equivalentTo"} xref: OMIM:267000 {source="Orphanet:2849/e", source="DOID:0060476", source="MONDO:equivalentTo", source="Orphanet:2849"} @@ -205187,6 +206794,7 @@ synonym: "renal tubular dysgenesis with choanal atresia and athelia" RELATED [OM synonym: "RTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:267430] xref: GARD:16854 {source="Orphanet:97369"} xref: ICD10CM:Q63.8 {source="Orphanet:97369/attributed", source="Orphanet:97369/ntbt", source="Orphanet:97369"} +xref: icd11.foundation:616055520 {source="MONDO:equivalentTo"} xref: OMIM:267430 {source="Orphanet:97369", source="MONDO:equivalentTo", source="Orphanet:97369/e"} xref: Orphanet:3033 {source="OMIM:267430"} xref: Orphanet:97369 {source="OMIM:267430", source="MONDO:equivalentTo"} @@ -205432,6 +207040,7 @@ synonym: "retinal dystrophy, reticular pigmentary, of POSTERIOR POLE" RELATED [M xref: GARD:16891 {source="Orphanet:99002"} xref: GARD:18239 {source="OMIM:179840"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:99002/attributed", source="Orphanet:99002/ntbt", source="Orphanet:99002"} +xref: icd11.foundation:878593681 {source="MONDO:equivalentTo"} xref: MESH:C564844 {source="MONDO:mondoIsBroaderThanSource"} xref: MESH:C566721 {source="MONDO:equivalentTo"} xref: OMIM:179840 {source="MONDO:equivalentTo", source="Orphanet:99002/btnt", source="Orphanet:99002"} @@ -205724,6 +207333,8 @@ xref: EFO:0000248 {source="MONDO:equivalentTo"} xref: GARD:4701 {source="Orphanet:99756"} xref: HP:0006779 {source="MONDO:otherHierarchy"} xref: ICD10CM:C49.9 {source="Orphanet:99756/ntbt", source="Orphanet:99756"} +xref: icd11.foundation:1142671419 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1742058067 {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8920/3 {source="NCIT:C3749"} xref: MedDRA:10065867 {source="Orphanet:99756", source="Orphanet:99756/e"} @@ -205807,6 +207418,7 @@ synonym: "short stature-Pierre Robin sequence-cleft mandible-hand anomalies club synonym: "short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome" EXACT [Orphanet:3102] xref: GARD:4718 {source="Orphanet:3102"} xref: ICD10CM:Q87.8 {source="Orphanet:3102/attributed", source="Orphanet:3102/ntbt", source="Orphanet:3102"} +xref: icd11.foundation:107084177 {source="MONDO:equivalentTo"} xref: MESH:C535677 {source="Orphanet:3102", source="MONDO:equivalentTo", source="Orphanet:3102/e"} xref: OMIM:268305 {source="Orphanet:3102", source="MONDO:equivalentTo", source="Orphanet:3102/e"} xref: Orphanet:3102 {source="MONDO:equivalentTo", source="OMIM:268305"} @@ -205843,6 +207455,7 @@ synonym: "RRS" EXACT ABBREVIATION [DOID:0060764, MONDO:Lexical, OMIM:268310, Orp xref: DOID:0060764 {source="MONDO:equivalentTo"} xref: GARD:16568 {source="Orphanet:1507"} xref: ICD10CM:Q87.1 {source="DOID:0060764", source="Orphanet:1507/attributed", source="Orphanet:1507/ntbt", source="Orphanet:1507"} +xref: icd11.foundation:793292660 {source="MONDO:equivalentTo"} xref: MESH:C535863 {source="Orphanet:1507/e", source="MONDO:equivalentTo", source="Orphanet:1507"} xref: OMIM:268310 {source="Orphanet:1507/e", source="MONDO:equivalentTo", source="DOID:0060764", source="Orphanet:1507"} xref: Orphanet:1507 {source="OMIM:268310", source="MONDO:equivalentTo", source="DOID:0060764"} @@ -205905,6 +207518,7 @@ synonym: "RTS" EXACT ABBREVIATION [DOID:2732, MONDO:Lexical, NCIT:C3335, OMIM:26 xref: DOID:2732 {source="MONDO:equivalentTo"} xref: GARD:4392 {source="Orphanet:2909"} xref: ICD10CM:Q82.8 {source="Orphanet:2909/ntbt", source="Orphanet:2909", source="Orphanet:2909/index", source="DOID:2732"} +xref: icd11.foundation:652761118 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D011038 {source="Orphanet:2909", source="DOID:2732", source="MONDO:equivalentTo", source="Orphanet:2909/e"} xref: NCIT:C3335 {source="DOID:2732", source="MONDO:equivalentTo"} @@ -206039,6 +207653,7 @@ xref: DOID:3323 {source="MONDO:equivalentTo"} xref: GARD:2521 {source="Orphanet:796"} xref: ICD10CM:E75.0 {source="Orphanet:796", source="Orphanet:796/ntbt", source="Orphanet:796/inclusion"} xref: ICD10CM:E75.01 {source="DOID:3323", source="MONDO:equivalentTo"} +xref: icd11.foundation:708581915 {source="MONDO:equivalentTo"} xref: MESH:D012497 {source="Orphanet:796", source="DOID:3323", source="MONDO:equivalentTo", source="Orphanet:796/e"} xref: NCIT:C85052 {source="DOID:3323", source="MONDO:equivalentTo"} xref: NORD:1688 {source="MONDO:NORD"} @@ -206151,6 +207766,7 @@ synonym: "Sgs" RELATED [OMIM:269150] xref: DOID:0070509 {source="MONDO:equivalentTo"} xref: GARD:117 {source="Orphanet:798"} xref: ICD10CM:Q87.0 {source="Orphanet:798/attributed", source="Orphanet:798/ntbt", source="Orphanet:798"} +xref: icd11.foundation:1542318431 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10063540 {source="Orphanet:798", source="Orphanet:798/e"} xref: MESH:C536632 {source="MONDO:equivalentTo"} @@ -206181,6 +207797,7 @@ subset: rare synonym: "schizencephaly" EXACT CLINGEN_LABEL [OMIM:269160] xref: GARD:166 {source="Orphanet:799"} xref: ICD10CM:Q04.6 {source="Orphanet:799/inclusion", source="Orphanet:799", source="Orphanet:799/ntbt"} +xref: icd11.foundation:1693546163 {source="MONDO:equivalentTo"} xref: icd11.foundation:1693546163 {source="Orphanet:799", source="MONDO:equivalentTo"} xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D065707 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} @@ -206221,6 +207838,7 @@ synonym: "Schmidt's syndrome" RELATED [GARD:0007611] xref: DOID:0050168 {source="MONDO:equivalentTo"} xref: GARD:7611 {source="Orphanet:3143"} xref: ICD10CM:E31.0 {source="Orphanet:3143/specific", source="Orphanet:3143/e", source="Orphanet:3143"} +xref: icd11.foundation:1065249344 {source="MONDO:equivalentTo"} xref: ICD9:258.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C129728 {source="MONDO:equivalentTo"} xref: NORD:824 {source="MONDO:NORD"} @@ -206250,6 +207868,7 @@ synonym: "SLC35D1-CDG" EXACT [Orphanet:3144] xref: DOID:0050775 {source="MONDO:equivalentTo"} xref: GARD:169 {source="Orphanet:3144"} xref: ICD10CM:Q77.7 {source="Orphanet:3144", source="Orphanet:3144/attributed", source="Orphanet:3144/ntbt"} +xref: icd11.foundation:584032448 {source="MONDO:equivalentTo"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536637 {source="Orphanet:3144", source="MONDO:equivalentTo", source="Orphanet:3144/e"} xref: OMIM:269250 {source="Orphanet:3144", source="DOID:0050775", source="MONDO:equivalentTo", source="Orphanet:3144/e"} @@ -206280,6 +207899,7 @@ synonym: "CRMDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:269300] synonym: "Schwartz-Lelek syndrome" EXACT [OMIM:269300] xref: GARD:16737 {source="Orphanet:85184"} xref: ICD10CM:Q78.8 {source="Orphanet:85184/attributed", source="Orphanet:85184/ntbt", source="Orphanet:85184"} +xref: icd11.foundation:1055011248 {source="MONDO:equivalentTo"} xref: OMIM:269300 {source="Orphanet:85184/e", source="MONDO:equivalentTo", source="Orphanet:85184"} xref: Orphanet:85184 {source="OMIM:269300", source="MONDO:equivalentTo"} xref: SCTID:278833002 {source="MONDO:equivalentTo"} @@ -206494,6 +208114,7 @@ synonym: "zeta-associated-protein 70 deficiency" EXACT [Orphanet:911] xref: DOID:0111943 {source="MONDO:equivalentTo"} xref: GARD:387 {source="Orphanet:911"} xref: ICD10CM:D81.8 {source="Orphanet:911/attributed", source="Orphanet:911/ntbt", source="Orphanet:911"} +xref: icd11.foundation:1718367094 {source="MONDO:equivalentTo"} xref: MESH:C536722 {source="MONDO:equivalentTo"} xref: OMIM:269840 {source="Orphanet:911", source="MONDO:equivalentTo", source="Orphanet:911/e"} xref: Orphanet:911 {source="MONDO:equivalentTo", source="OMIM:269840"} @@ -206576,6 +208197,7 @@ synonym: "short syndrome" EXACT [OMIM:269880] xref: DOID:0111454 {source="MONDO:equivalentTo"} xref: GARD:7633 {source="Orphanet:3163"} xref: ICD10CM:Q87.1 {source="Orphanet:3163/attributed", source="Orphanet:3163/ntbt", source="Orphanet:3163"} +xref: icd11.foundation:1264512044 {source="MONDO:equivalentTo"} xref: MESH:C537327 {source="Orphanet:3163/e", source="MONDO:equivalentTo", source="Orphanet:3163"} xref: NORD:1710 {source="MONDO:NORD"} xref: OMIM:269880 {source="Orphanet:3163/e", source="MONDO:equivalentTo", source="Orphanet:3163"} @@ -206644,6 +208266,7 @@ synonym: "sialuria, French type" EXACT [OMIM:269921, Orphanet:3166] xref: DOID:3659 {source="MONDO:equivalentTo"} xref: GARD:4865 {source="Orphanet:3166"} xref: ICD10CM:E77.8 {source="Orphanet:3166", source="Orphanet:3166/attributed", source="Orphanet:3166/ntbt"} +xref: icd11.foundation:154329034 {source="MONDO:equivalentTo"} xref: ICD9:796.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10067529 {source="Orphanet:3166", source="Orphanet:3166/e"} xref: MESH:C537332 {source="Orphanet:3166", source="Orphanet:3166/e"} @@ -206870,6 +208493,7 @@ xref: DOID:14692 {source="MONDO:equivalentTo"} xref: GARD:5683 {source="Orphanet:818"} xref: ICD10CM:E78.72 {source="DOID:14692", source="MONDO:equivalentTo"} xref: ICD10CM:Q87.1 {source="Orphanet:818/inclusion", source="Orphanet:818", source="Orphanet:818/ntbt"} +xref: icd11.foundation:1231469858 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D019082 {source="Orphanet:818/e", source="DOID:14692", source="MONDO:equivalentTo", source="Orphanet:818"} xref: NCIT:C85071 {source="DOID:14692", source="MONDO:equivalentTo"} @@ -206961,6 +208585,7 @@ synonym: "Somatomedin-c resistance to" RELATED [GARD:0010609] synonym: "Somatomedin-C, resistance to" RELATED [OMIM:270450] xref: GARD:10609 {source="Orphanet:73273"} xref: ICD10CM:E34.3 {source="Orphanet:73273/attributed", source="Orphanet:73273/ntbt", source="Orphanet:73273"} +xref: icd11.foundation:272435490 {source="MONDO:equivalentTo"} xref: MESH:C564816 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: OMIM:270450 {source="GARD:0010609", source="Orphanet:73273/e", source="MONDO:equivalentTo", source="Orphanet:73273"} xref: Orphanet:73273 {source="GARD:0010609", source="MONDO:equivalentTo", source="OMIM:270450"} @@ -207558,6 +209183,7 @@ synonym: "spinocerebellar degeneration corneal dystrophy" RELATED [GARD:0001525] synonym: "spinocerebellar degeneration-corneal dystrophy syndrome" EXACT [Orphanet:3177] xref: GARD:1525 {source="Orphanet:3177"} xref: ICD10CM:G11.1 {source="Orphanet:3177", source="Orphanet:3177/attributed", source="Orphanet:3177/ntbt"} +xref: icd11.foundation:577494924 {source="MONDO:equivalentTo"} xref: MESH:C535472 {source="Orphanet:3177", source="MONDO:equivalentTo", source="Orphanet:3177/e"} xref: OMIM:271310 {source="Orphanet:3177", source="MONDO:equivalentTo", source="Orphanet:3177/e"} xref: Orphanet:3177 {source="MONDO:equivalentTo", source="OMIM:271310"} @@ -207731,6 +209357,7 @@ synonym: "brachyolmia type 1, Hobaek type" EXACT [MONDO:Lexical, OMIM:271530] synonym: "brachyolmia, recessive type of Hobaek" RELATED [OMIM:271530] synonym: "spondylodysplasia with Pure brachyolmia" RELATED [OMIM:271530] xref: GARD:995 {source="OMIM:271530"} +xref: icd11.foundation:1213374086 {source="MONDO:equivalentTo"} xref: MESH:C537099 {source="MONDO:equivalentTo"} xref: OMIM:271530 {source="MONDO:equivalentTo"} xref: Orphanet:93301 {source="MONDO:equivalentObsolete", source="OMIM:271530"} @@ -207781,6 +209408,7 @@ synonym: "spondyloepiphyseal dysplasia tarda with mental retardation" RELATED DE xref: DOID:0112292 {source="MONDO:equivalentTo"} xref: GARD:16995 {source="Orphanet:163665"} xref: ICD10CM:Q77.7 {source="Orphanet:163665", source="Orphanet:163665/attributed", source="Orphanet:163665/ntbt"} +xref: icd11.foundation:758715188 {source="MONDO:equivalentTo"} xref: MESH:C564796 {source="MONDO:equivalentTo"} xref: OMIM:271620 {source="MONDO:equivalentTo", source="Orphanet:163665", source="Orphanet:163665/e"} xref: Orphanet:163665 {source="MONDO:equivalentTo", source="OMIM:271620"} @@ -207806,6 +209434,7 @@ synonym: "Sed, chondroitin sulfate type" RELATED [OMIM:271630] synonym: "Sed, chondroitin sulphate type" RELATED OMO:0003005 [] synonym: "spondyloepiphyseal dysplasia tarda, Toledo type" RELATED [OMIM:271630] xref: GARD:4977 {source="OMIM:271630"} +xref: icd11.foundation:637954533 {source="MONDO:equivalentTo"} xref: MESH:C535787 {source="MONDO:equivalentTo"} xref: OMIM:271630 {source="MONDO:equivalentTo"} xref: Orphanet:93303 {source="MONDO:equivalentObsolete", source="OMIM:271630"} @@ -207851,6 +209480,7 @@ synonym: "SEMDIT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:271650] synonym: "spondyloepimetaphyseal dysplasia, Irapa type" EXACT [MONDO:Lexical, OMIM:271650] xref: GARD:16819 {source="Orphanet:93351"} xref: ICD10CM:Q77.7 {source="Orphanet:93351", source="Orphanet:93351/attributed", source="Orphanet:93351/ntbt"} +xref: icd11.foundation:1355637988 {source="MONDO:equivalentTo"} xref: MESH:C562958 {source="MONDO:equivalentTo"} xref: OMIM:271650 {source="Orphanet:93351", source="MONDO:equivalentTo", source="Orphanet:93351/e"} xref: Orphanet:93351 {source="MONDO:equivalentTo", source="OMIM:271650"} @@ -207949,6 +209579,7 @@ synonym: "Von Bogaert-Bertrand disease" RELATED [GARD:0005984] xref: DOID:3613 {source="MONDO:equivalentTo"} xref: GARD:5984 {source="Orphanet:141"} xref: ICD10CM:E75.2 {source="Orphanet:141/ntbt", source="Orphanet:141", source="Orphanet:141/index"} +xref: icd11.foundation:1576870846 {source="MONDO:equivalentTo"} xref: MedDRA:10067608 {source="Orphanet:141/e", source="Orphanet:141"} xref: MESH:D017825 {source="Orphanet:141/e", source="MONDO:equivalentTo", source="DOID:3613", source="Orphanet:141"} xref: NCIT:C84611 {source="MONDO:equivalentTo", source="DOID:3613"} @@ -207987,6 +209618,7 @@ synonym: "striatal degeneration, familial" RELATED [OMIM:271930] synonym: "striatonigral degeneration, infantile" RELATED [MONDO:Lexical, OMIM:271930] xref: GARD:17141 {source="Orphanet:225154"} xref: ICD10CM:G23.2 {source="Orphanet:225154/attributed", source="Orphanet:225154/ntbt", source="Orphanet:225154"} +xref: icd11.foundation:1873983370 {source="MONDO:equivalentTo"} xref: OMIM:271930 {source="Orphanet:225154/e", source="MONDO:equivalentTo", source="Orphanet:225154"} xref: Orphanet:1576 {source="OMIM:271930"} xref: Orphanet:225154 {source="OMIM:271930", source="MONDO:equivalentTo"} @@ -208185,6 +209817,7 @@ synonym: "sulfatidosis, juvenile, Austin type" EXACT [DOID:0050441, OMIM:272200] xref: DOID:0050441 {source="MONDO:equivalentTo"} xref: GARD:5061 {source="Orphanet:585"} xref: ICD10CM:E75.2 {source="Orphanet:585/attributed", source="Orphanet:585/ntbt", source="Orphanet:585"} +xref: icd11.foundation:848083807 {source="MONDO:equivalentTo"} xref: MESH:D052517 {source="DOID:0050441", source="MONDO:equivalentTo"} xref: NCIT:C84908 {source="DOID:0050441", source="MONDO:equivalentTo"} xref: NORD:1471 {source="MONDO:NORD"} @@ -208223,6 +209856,7 @@ synonym: "sulfocysteinuria" EXACT [OMIM:272300] xref: DOID:0111270 {source="MONDO:equivalentTo"} xref: GARD:5062 {source="Orphanet:99731"} xref: ICD10CM:E72.1 {source="Orphanet:99731", source="Orphanet:99731/attributed", source="Orphanet:99731/ntbt"} +xref: icd11.foundation:963607692 {source="MONDO:equivalentTo"} xref: MESH:C538141 {source="MONDO:equivalentTo"} xref: OMIM:272300 {source="Orphanet:99731", source="MONDO:equivalentTo", source="Orphanet:99731/e"} xref: Orphanet:833 {source="OMIM:272300"} @@ -208313,6 +209947,7 @@ synonym: "unusual facial appearance, microcephaly, growth and mental retardation xref: DOID:0112194 {source="MONDO:equivalentTo"} xref: GARD:62 {source="Orphanet:3255"} xref: ICD10CM:Q87.8 {source="Orphanet:3255", source="Orphanet:3255/attributed", source="Orphanet:3255/ntbt"} +xref: icd11.foundation:1989471300 {source="MONDO:equivalentTo"} xref: MESH:C538152 {source="Orphanet:3255", source="MONDO:equivalentTo", source="Orphanet:3255/e"} xref: NORD:1149 {source="MONDO:NORD"} xref: OMIM:272440 {source="Orphanet:3255", source="MONDO:equivalentTo", source="Orphanet:3255/e", source="GARD:0000062"} @@ -208430,6 +210065,7 @@ synonym: "taurodontism" EXACT [MONDO:ambiguous, OMIM:272700] synonym: "taurodontism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0000679 {source="MONDO:otherHierarchy"} xref: ICD10CM:K00.2 {source="Orphanet:3289/ntbt", source="Orphanet:3289", source="Orphanet:3289/inclusion"} +xref: icd11.foundation:356382747 {source="MONDO:equivalentTo"} xref: MESH:C536946 {source="Orphanet:3289", source="MONDO:equivalentTo", source="Orphanet:3289/e"} xref: OMIM:272700 {source="Orphanet:3289", source="MONDO:equivalentTo", source="Orphanet:3289/e"} xref: Orphanet:3289 {source="OMIM:272700", source="MONDO:equivalentObsolete"} @@ -208505,6 +210141,7 @@ xref: DOID:3320 {source="MONDO:equivalentTo"} xref: GARD:7737 {source="Orphanet:845"} xref: ICD10CM:E75.0 {source="Orphanet:845/ntbt", source="Orphanet:845/inclusion", source="Orphanet:845"} xref: ICD10CM:E75.02 {source="DOID:3320", source="MONDO:equivalentTo"} +xref: icd11.foundation:215008783 {source="MONDO:equivalentTo"} xref: MedDRA:10043147 {source="Orphanet:845", source="Orphanet:845/e"} xref: MESH:D013661 {source="DOID:3320", source="Orphanet:845", source="MONDO:equivalentTo", source="Orphanet:845/e"} xref: NCIT:C85184 {source="DOID:3320", source="MONDO:equivalentTo"} @@ -208767,6 +210404,7 @@ synonym: "odontotrichomelic hypohidrotic dysplasia" EXACT [GARD:0002381, MESH:C5 synonym: "odontotrichomelic syndrome" EXACT [OMIM:273400] synonym: "tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities" EXACT [OMIM:273400] xref: GARD:2381 {source="Orphanet:2723"} +xref: icd11.foundation:1999951139 {source="MONDO:equivalentTo"} xref: MESH:C535637 {source="MONDO:equivalentTo"} xref: OMIM:273400 {source="MONDO:equivalentTo", source="Orphanet:2723", source="Orphanet:2723/e"} xref: Orphanet:2723 {source="MONDO:equivalentTo", source="OMIM:273400"} @@ -208852,6 +210490,7 @@ synonym: "thoracolimb dysplasia, Rivera type" EXACT [Orphanet:1803] synonym: "thoracomelic dysplasia" EXACT [OMIM:273740] xref: GARD:10612 {source="Orphanet:1803"} xref: ICD10CM:Q77.2 {source="Orphanet:1803/attributed", source="Orphanet:1803/ntbt", source="Orphanet:1803"} +xref: icd11.foundation:1284518024 {source="MONDO:equivalentTo"} xref: MESH:C564773 {source="MONDO:equivalentTo"} xref: OMIM:273740 {source="Orphanet:1803/e", source="MONDO:equivalentTo", source="Orphanet:1803"} xref: Orphanet:1803 {source="MONDO:equivalentTo", source="OMIM:273740"} @@ -209168,6 +210807,7 @@ synonym: "thymine-Uraciluria, hereditary" RELATED [OMIM:274270] xref: DOID:14218 {source="MONDO:equivalentTo"} xref: GARD:19 {source="Orphanet:1675"} xref: ICD10CM:E79.8 {source="Orphanet:1675/attributed", source="Orphanet:1675/ntbt", source="Orphanet:1675"} +xref: icd11.foundation:701689290 {source="MONDO:equivalentTo"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10052622 {source="Orphanet:1675", source="Orphanet:1675/e"} xref: MESH:D054067 {source="DOID:14218", source="Orphanet:1675", source="MONDO:equivalentTo", source="Orphanet:1675/e"} @@ -209301,6 +210941,7 @@ synonym: "thyroid hormonogenesis, genetic defect in, 2B" EXACT [OMIM:274600] xref: DOID:0060744 {source="MONDO:equivalentTo"} xref: GARD:4271 {source="Orphanet:705"} xref: ICD10CM:E07.1 {source="Orphanet:705/inclusion", source="DOID:0060744", source="Orphanet:705", source="Orphanet:705/ntbt"} +xref: icd11.foundation:1156056623 {source="MONDO:equivalentTo"} xref: icd11.foundation:1156056623 {source="MONDO:equivalentTo", source="Orphanet:705"} xref: MESH:C536648 {source="MONDO:equivalentTo", source="DOID:0060744", source="Orphanet:705", source="Orphanet:705/e"} xref: NCIT:C121745 {source="MONDO:equivalentTo"} @@ -209407,6 +211048,7 @@ synonym: "hyperthyroidism, autoimmune" RELATED [OMIM:275000] xref: DOID:7997 {source="MONDO:equivalentTo"} xref: EFO:0009190 {source="MONDO:equivalentTo"} xref: ICD10CM:E05.9 {source="DOID:7997"} +xref: icd11.foundation:1470387017 {source="MONDO:equivalentTo"} xref: ICD9:242 {source="DOID:7997"} xref: ICD9:242.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:242.90 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -209569,6 +211211,7 @@ synonym: "tibial hemimelia" EXACT [OMIM:275220] synonym: "tibial longitudinal meromelia" EXACT [Orphanet:93322] xref: GARD:8707 {source="Orphanet:93322"} xref: ICD10CM:Q72.5 {source="Orphanet:93322", source="Orphanet:93322/e", source="Orphanet:93322/specific"} +xref: icd11.foundation:1111258427 {source="MONDO:equivalentTo"} xref: icd11.foundation:1111258427 {source="Orphanet:93322", source="MONDO:equivalentTo"} xref: MESH:C535563 {source="MONDO:equivalentTo"} xref: OMIM:275220 {source="Orphanet:93322", source="MONDO:equivalentTo", source="Orphanet:93322/e"} @@ -209828,6 +211471,7 @@ synonym: "NLSDI" EXACT ABBREVIATION [Orphanet:98907] synonym: "triglyceride storage disease with impaired long-chain fatty acid oxidation" RELATED [OMIM:275630] xref: GARD:3979 {source="Orphanet:98907"} xref: ICD10CM:E75.5 {source="Orphanet:98907/attributed", source="Orphanet:98907/ntbt", source="Orphanet:98907"} +xref: icd11.foundation:690728790 {source="MONDO:equivalentTo"} xref: NORD:1283 {source="MONDO:NORD"} xref: OMIM:275630 {source="Orphanet:98907/e", source="MONDO:equivalentTo", source="Orphanet:98907", source="DOID:0050729"} xref: Orphanet:98907 {source="MONDO:equivalentTo", source="OMIM:275630"} @@ -210115,6 +211759,7 @@ synonym: "ulna and fibula, absence of, with severe limb deficiency" RELATED [OMI xref: DOID:0112181 {source="MONDO:equivalentTo"} xref: GARD:9212 {source="Orphanet:2879"} xref: ICD10CM:Q87.2 {source="Orphanet:2879/attributed", source="Orphanet:2879/ntbt", source="Orphanet:2879"} +xref: icd11.foundation:1732271544 {source="MONDO:equivalentTo"} xref: MESH:C535612 {source="MONDO:equivalentTo"} xref: OMIM:276820 {source="Orphanet:2879/e", source="MONDO:equivalentTo", source="Orphanet:2879", source="GARD:0005124"} xref: Orphanet:2879 {source="MONDO:equivalentTo", source="OMIM:276820"} @@ -210185,6 +211830,7 @@ xref: DOID:0112180 {source="MONDO:equivalentTo"} xref: GARD:8539 {source="Orphanet:210128"} xref: HP:0012237 {source="MONDO:otherHierarchy"} xref: ICD10CM:E70.8 {source="Orphanet:210128", source="Orphanet:210128/attributed", source="Orphanet:210128/ntbt"} +xref: icd11.foundation:61773927 {source="MONDO:equivalentTo"} xref: icd11.foundation:61773927 {source="MONDO:equivalentTo", source="Orphanet:210128"} xref: MESH:C536479 {source="MONDO:equivalentTo"} xref: OMIM:276880 {source="MONDO:equivalentTo", source="Orphanet:210128", source="Orphanet:210128/e"} @@ -210222,6 +211868,7 @@ synonym: "Usher syndrome, type Ia, formerly" RELATED [OMIM:276900] xref: DOID:0110826 {source="MONDO:equivalentTo"} xref: GARD:5435 {source="Orphanet:231169"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110826", source="Orphanet:231169", source="Orphanet:231169/attributed", source="Orphanet:231169/ntbt"} +xref: icd11.foundation:237039059 {source="MONDO:equivalentTo"} xref: NCIT:C126327 {source="MONDO:equivalentTo"} xref: Orphanet:231169 {source="DOID:0110826", source="MONDO:equivalentTo", source="OMIM:276900"} xref: Orphanet:886 {source="OMIM:276900"} @@ -210342,6 +211989,7 @@ synonym: "Vater association with macrocephaly and ventriculomegaly" RELATED [OMI synonym: "vertebral (V), anal (A), cardiac (C), tracheoesophageal (te), renal (R) and limb (L) anomalies and hydrocephaly" RELATED [GARD:0000272] xref: GARD:272 {source="Orphanet:3412"} xref: ICD10CM:Q87.8 {source="Orphanet:3412/attributed", source="Orphanet:3412/ntbt", source="Orphanet:3412"} +xref: icd11.foundation:1646268729 {source="MONDO:equivalentTo"} xref: OMIM:276950 {source="Orphanet:3412", source="MONDO:equivalentTo", source="Orphanet:3412/e"} xref: Orphanet:3412 {source="MONDO:equivalentTo", source="OMIM:276950"} xref: UMLS:C1848599 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:276950"} @@ -210593,6 +212241,7 @@ synonym: "visceral myopathy, familial, with external ophthalmoplegia" RELATED [O synonym: "visceral myopathy-familial external ophthalmoplegia syndrome" EXACT [Orphanet:1876] xref: GARD:5496 {source="Orphanet:1876"} xref: ICD10CM:G71.0 {source="MONDO:relatedTo", source="Orphanet:1876", source="Orphanet:1876/attributed", source="Orphanet:1876/ntbt"} +xref: icd11.foundation:1205053137 {source="MONDO:equivalentTo"} xref: MESH:C536350 {source="Orphanet:1876", source="Orphanet:1876/e"} xref: OMIM:277320 {source="MONDO:equivalentTo", source="Orphanet:1876", source="Orphanet:1876/e"} xref: Orphanet:1876 {source="MONDO:equivalentTo", source="OMIM:277320"} @@ -211012,6 +212661,7 @@ xref: GARD:7878 {source="Orphanet:3447"} xref: GTR:AN0102079 xref: GTR:AN0102080 xref: ICD10CM:Q87.3 {source="Orphanet:3447/inclusion", source="Orphanet:3447", source="Orphanet:3447/ntbt"} +xref: icd11.foundation:2042913723 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536687 {source="MONDO:equivalentTo", source="Orphanet:3447", source="Orphanet:3447/e"} xref: MESH:C562443 {source="DOID:14731"} @@ -211090,6 +212740,7 @@ synonym: "WS" EXACT ABBREVIATION [DOID:5688, NCIT:C3447, Orphanet:902] xref: DOID:5688 {source="MONDO:equivalentTo"} xref: GARD:7885 {source="Orphanet:902"} xref: ICD10CM:E34.8 {source="Orphanet:902", source="Orphanet:902/index", source="Orphanet:902/ntbt"} +xref: icd11.foundation:1864550134 {source="MONDO:equivalentTo"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10049429 {source="Orphanet:902", source="Orphanet:902/e"} xref: MESH:D014898 {source="DOID:5688", source="MONDO:equivalentTo", source="Orphanet:902", source="Orphanet:902/e"} @@ -211145,6 +212796,7 @@ synonym: "Wernicke encephalopathy" RELATED [NCIT:C35764] synonym: "Wernicke-Korsakoff syndrome" EXACT [OMIM:277730] xref: DOID:10915 {source="EFO:1001242", source="MONDO:equivalentTo"} xref: EFO:1001242 {source="MONDO:equivalentTo"} +xref: icd11.foundation:2017611840 {source="MONDO:equivalentTo"} xref: MedDRA:10047913 {source="EFO:1001242"} xref: MESH:C538669 {source="MONDO:equivalentTo"} xref: MESH:D020915 {source="EFO:1001242", source="DOID:10915"} @@ -211208,6 +212860,7 @@ xref: DOID:893 {source="MONDO:equivalentTo"} xref: GARD:7893 {source="Orphanet:905"} xref: ICD10CM:E83.0 {source="Orphanet:905/inclusion", source="Orphanet:905/ntbt", source="Orphanet:905"} xref: ICD10CM:E83.01 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-9859-8589", source="DOID:893"} +xref: icd11.foundation:468161208 {source="MONDO:equivalentTo"} xref: icd11.foundation:468161208 {source="MONDO:equivalentTo", source="Orphanet:905"} xref: MedDRA:10019819 {source="Orphanet:905/e", source="Orphanet:905"} xref: MESH:D006527 {source="Orphanet:905/e", source="MONDO:equivalentTo", source="Orphanet:905", source="DOID:893"} @@ -211380,6 +213033,7 @@ synonym: "WSS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:278250, Orphanet:2834] xref: DOID:0112171 {source="MONDO:equivalentTo"} xref: GARD:273 {source="Orphanet:2834"} xref: ICD10CM:Q82.8 {source="Orphanet:2834", source="Orphanet:2834/attributed", source="Orphanet:2834/ntbt"} +xref: icd11.foundation:638767040 {source="MONDO:equivalentTo"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536750 {source="MONDO:equivalentTo", source="Orphanet:2834", source="Orphanet:2834/e"} xref: OMIM:278250 {source="MONDO:equivalentTo", source="Orphanet:2834", source="Orphanet:2834/e"} @@ -211727,6 +213381,7 @@ synonym: "De Sanctis Cacchione Syndrome" EXACT [NORD:1035] synonym: "de Sanctis-Cacchione syndrome" EXACT [OMIM:278800] synonym: "xerodermic idiocy" RELATED [GARD:0008276] xref: DOID:0112158 {source="MONDO:equivalentTo"} +xref: icd11.foundation:594988031 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535992 {source="MONDO:equivalentTo"} xref: NCIT:C84666 {source="MONDO:equivalentTo"} @@ -211788,6 +213443,7 @@ synonym: "young syndrome" EXACT [OMIM:279000] xref: GARD:341 {source="Orphanet:3471"} xref: ICD10CM:N46 {source="Orphanet:3471/attributed", source="Orphanet:3471/ntbt", source="Orphanet:3471"} xref: icd11.foundation:1628320490 {source="MONDO:equivalentTo", source="Orphanet:3471"} +xref: icd11.foundation:1628320490 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10063689 {source="Orphanet:3471/e", source="Orphanet:3471"} xref: MESH:C536718 {source="Orphanet:3471/e", source="MONDO:equivalentTo", source="Orphanet:3471"} @@ -211950,6 +213606,7 @@ synonym: "urolithiasis, hypercalciuric, X-linked" RELATED [OMIM:300009] xref: DOID:0111798 {source="MONDO:equivalentTo"} xref: GARD:1804 {source="Orphanet:93622"} xref: ICD10CM:N25.8 {source="Orphanet:93622", source="Orphanet:93622/attributed", source="Orphanet:93622/ntbt"} +xref: icd11.foundation:1984074789 {source="MONDO:equivalentTo"} xref: MESH:C538212 {source="Orphanet:93622", source="Orphanet:93622/e"} xref: OMIM:300009 {source="MONDO:equivalentTo", source="Orphanet:93622", source="Orphanet:93622/e"} xref: Orphanet:1652 {source="OMIM:300009"} @@ -212329,6 +213986,7 @@ synonym: "Xlis" RELATED [OMIM:300067] xref: DOID:0112239 {source="MONDO:equivalentTo"} xref: GARD:6914 {source="Orphanet:2148"} xref: ICD10CM:Q04.3 {source="Orphanet:2148/attributed", source="Orphanet:2148/ntbt", source="Orphanet:2148"} +xref: icd11.foundation:891064255 {source="MONDO:equivalentTo"} xref: OMIM:300067 {source="Orphanet:2148", source="GARD:0006914", source="MONDO:equivalentTo", source="Orphanet:2148/e"} xref: Orphanet:2148 {source="OMIM:300067", source="MONDO:equivalentTo"} xref: Orphanet:99796 {source="OMIM:300067"} @@ -212419,6 +214077,7 @@ synonym: "Woods-Black-Norbury syndrome, X-linked dominant" EXACT [OMIM:300076, O synonym: "X-linked immunoneurological disorder" EXACT [GARD:0000274] xref: GARD:274 {source="Orphanet:2571"} xref: ICD10CM:D82.8 {source="Orphanet:2571/attributed", source="Orphanet:2571/ntbt", source="Orphanet:2571"} +xref: icd11.foundation:1464555617 {source="MONDO:equivalentTo"} xref: MESH:C536743 {source="MONDO:equivalentTo"} xref: OMIM:300076 {source="Orphanet:2571/e", source="MONDO:equivalentTo", source="Orphanet:2571"} xref: Orphanet:2571 {source="OMIM:300076", source="MONDO:equivalentTo"} @@ -212542,6 +214201,7 @@ synonym: "Siemerling-Creutzfeldt disease" RELATED [OMIM:300100] synonym: "X-linked cerebral adrenoleukodystrophy" EXACT CLINGEN_LABEL [Orphanet:139396] xref: GARD:9412 {source="Orphanet:139396"} xref: ICD10CM:E71.3 {source="Orphanet:139396", source="Orphanet:139396/attributed", source="Orphanet:139396/ntbt"} +xref: icd11.foundation:1105019687 {source="MONDO:equivalentTo"} xref: Orphanet:139396 {source="OMIM:300100", source="MONDO:equivalentTo", source="GARD:0009412"} xref: Orphanet:139399 {source="OMIM:300100"} xref: Orphanet:43 {source="OMIM:300100"} @@ -212767,6 +214427,7 @@ synonym: "X-linked MEHMO syndrome" RELATED [GARD:0009178] xref: DOID:0060801 {source="MONDO:equivalentTo"} xref: GARD:9178 {source="Orphanet:85282"} xref: ICD10CM:Q87.8 {source="Orphanet:85282", source="DOID:0060801", source="Orphanet:85282/attributed", source="Orphanet:85282/ntbt"} +xref: icd11.foundation:500681653 {source="MONDO:equivalentTo"} xref: MESH:C537451 {source="Orphanet:85282/e", source="MONDO:equivalentTo", source="Orphanet:85282", source="DOID:0060801"} xref: OMIM:300148 {source="Orphanet:85282/e", source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="Orphanet:85282", source="DOID:0060801"} xref: OMIM:300987 {source="MONDO:equivalentObsolete"} @@ -213078,6 +214739,7 @@ xref: GARD:6121 {source="Orphanet:190"} xref: ICD10CM:H35.0 {source="Orphanet:190/inclusion", source="Orphanet:190/ntbt", source="Orphanet:190"} xref: ICD10CM:H35.02 {source="DOID:7765"} xref: ICD10CM:H35.07 {source="DOID:7765"} +xref: icd11.foundation:2032707885 {source="MONDO:equivalentTo"} xref: ICD9:362.12 {source="DOID:7765"} xref: MedDRA:10015901 {source="Orphanet:190", source="Orphanet:190/e"} xref: MESH:D058456 {source="DOID:7765", source="Orphanet:190", source="MONDO:equivalentTo", source="Orphanet:190/e"} @@ -213219,6 +214881,7 @@ synonym: "spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration" xref: GARD:4891 {source="Orphanet:83629"} xref: ICD10CM:G11.4 {source="Orphanet:83629/attributed", source="Orphanet:83629/ntbt", source="MONDO:directSiblingOf", source="Orphanet:83629"} xref: ICD10CM:Q77.7 {source="Orphanet:168448", source="Orphanet:168448/attributed", source="Orphanet:168448/ntbt"} +xref: icd11.foundation:1073330593 {source="MONDO:equivalentTo"} xref: MESH:C536671 {source="MONDO:equivalentTo"} xref: MESH:C567065 {source="MONDO:equivalentTo"} xref: OMIM:300232 {source="MONDO:equivalentTo", source="Orphanet:168448", source="Orphanet:168448/e"} @@ -213419,6 +215082,7 @@ xref: DOID:0050437 {source="MONDO:equivalentTo"} xref: EFO:1001333 {source="MONDO:equivalentTo"} xref: GARD:9730 {source="Orphanet:34587"} xref: ICD10CM:E74.0 {source="Orphanet:34587/attributed", source="Orphanet:34587/ntbt", source="Orphanet:34587"} +xref: icd11.foundation:1233188442 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D052120 {source="MONDO:equivalentTo", source="DOID:0050437"} xref: NCIT:C84735 {source="MONDO:equivalentTo", source="DOID:0050437"} @@ -213649,6 +215313,7 @@ subset: orphanet_rare {source="Orphanet:977"} subset: rare synonym: "adrenomyodystrophy" EXACT [OMIM:300270] xref: GARD:562 {source="Orphanet:977"} +xref: icd11.foundation:46666832 {source="MONDO:equivalentTo"} xref: MESH:C538051 {source="Orphanet:977", source="MONDO:equivalentTo", source="Orphanet:977/e"} xref: OMIM:300270 {source="Orphanet:977", source="MONDO:equivalentTo", source="Orphanet:977/e"} xref: Orphanet:977 {source="MONDO:equivalentTo", source="OMIM:300270"} @@ -213897,6 +215562,7 @@ synonym: "X-linked hyperuricemia (disorder) [ambiguous]" EXACT [DOID:1919] xref: DOID:1919 {source="MONDO:equivalentTo"} xref: GARD:7226 {source="Orphanet:510"} xref: ICD10CM:E79.1 {source="Orphanet:510", source="DOID:1919", source="MONDO:equivalentTo", source="Orphanet:510/e", source="Orphanet:510/specific"} +xref: icd11.foundation:1886495906 {source="MONDO:equivalentTo"} xref: icd11.foundation:1886495906 {source="Orphanet:510", source="MONDO:equivalentTo"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10057589 {source="Orphanet:510", source="Orphanet:510/e"} @@ -214249,6 +215915,7 @@ xref: DOID:9883 {source="MONDO:equivalentTo"} xref: GARD:5900 {source="Orphanet:98895"} xref: ICD10CM:G71.0 {source="Orphanet:98895", source="Orphanet:98895/ntbt", source="Orphanet:98895/inclusion"} xref: icd11.foundation:690532643 {source="Orphanet:98895", source="MONDO:equivalentTo"} +xref: icd11.foundation:690532643 {source="MONDO:equivalentTo"} xref: MedDRA:10059117 {source="Orphanet:98895", source="Orphanet:98895/e"} xref: MESH:C570377 {source="https://github.com/monarch-initiative/mondo/issues/1601", source="MONDO:equivalentTo"} xref: NCIT:C84587 {source="MONDO:equivalentTo"} @@ -215393,6 +217060,7 @@ xref: DOID:0050631 {source="MONDO:equivalentTo"} xref: GARD:5617 {source="Orphanet:59"} xref: ICD10CM:E03.1 {source="Orphanet:59/attributed", source="Orphanet:59/ntbt"} xref: ICD10CM:G31.8 {source="Orphanet:59"} +xref: icd11.foundation:56813604 {source="MONDO:equivalentTo"} xref: MESH:C537047 {source="MONDO:equivalentTo", source="Orphanet:59", source="Orphanet:59/e"} xref: NCIT:C118843 {source="MONDO:equivalentTo"} xref: NORD:1415 {source="MONDO:NORD"} @@ -215461,6 +217129,7 @@ xref: DOID:0112121 {source="MONDO:equivalentTo"} xref: GARD:10306 {source="Orphanet:93606"} xref: ICD10CM:E22.2 {source="Orphanet:93606/attributed", source="Orphanet:93606/ntbt", source="Orphanet:93606"} xref: icd11.foundation:808905140 {source="MONDO:equivalentTo", source="Orphanet:93606"} +xref: icd11.foundation:808905140 {source="MONDO:equivalentTo"} xref: MESH:C564491 {source="MONDO:equivalentTo"} xref: OMIM:300539 {source="Orphanet:93606/e", source="MONDO:equivalentTo", source="Orphanet:93606"} xref: Orphanet:93606 {source="MONDO:equivalentTo", source="OMIM:300539"} @@ -215523,6 +217192,7 @@ synonym: "nephrolithiasis type 2" EXACT [Orphanet:93623] synonym: "OCRL Dent disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:10645 {source="Orphanet:93623"} xref: ICD10CM:N25.8 {source="Orphanet:93623", source="Orphanet:93623/attributed", source="Orphanet:93623/ntbt"} +xref: icd11.foundation:2053330521 {source="MONDO:equivalentTo"} xref: MESH:C564487 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: OMIM:300555 {source="MONDO:equivalentTo", source="Orphanet:93623", source="Orphanet:93623/e"} xref: Orphanet:1652 {source="OMIM:300555"} @@ -216363,6 +218033,7 @@ synonym: "Phosphoglycerate kinase deficiency" RELATED [GARD:0007389] xref: DOID:0111933 {source="MONDO:equivalentTo"} xref: GARD:7389 {source="Orphanet:713"} xref: ICD10CM:E74.0 {source="Orphanet:713/attributed", source="Orphanet:713/ntbt", source="Orphanet:713"} +xref: icd11.foundation:1396572570 {source="MONDO:equivalentTo"} xref: MESH:C567067 {source="MONDO:equivalentTo"} xref: NCIT:C126738 {source="MONDO:equivalentTo"} xref: NORD:1577 {source="MONDO:NORD"} @@ -216496,6 +218167,7 @@ synonym: "severe neonatal encephalopathy due to MECP2 mutations" EXACT [NCIT:C13 xref: DOID:0111932 {source="MONDO:equivalentTo"} xref: GARD:17103 {source="Orphanet:209370"} xref: ICD10CM:Q02 {source="Orphanet:209370", source="Orphanet:209370/attributed", source="Orphanet:209370/ntbt"} +xref: icd11.foundation:240602582 {source="MONDO:equivalentTo"} xref: MESH:C566878 {source="MONDO:equivalentTo"} xref: NCIT:C132293 {source="MONDO:equivalentTo"} xref: OMIM:300673 {source="Orphanet:209370", source="MONDO:equivalentTo", source="Orphanet:209370/e"} @@ -216616,6 +218288,7 @@ synonym: "XMPMA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300696, Orphanet:178461 xref: DOID:0070251 {source="MONDO:equivalentTo"} xref: GARD:17081 {source="Orphanet:178461"} xref: ICD10CM:G71.0 {source="Orphanet:178461/attributed", source="Orphanet:178461/ntbt", source="Orphanet:178461"} +xref: icd11.foundation:420677690 {source="MONDO:equivalentTo"} xref: OMIM:300696 {source="Orphanet:178461/e", source="MONDO:equivalentTo", source="Orphanet:178461"} xref: Orphanet:178461 {source="MONDO:equivalentTo", source="OMIM:300696"} xref: Orphanet:261 {source="OMIM:300696"} @@ -217191,6 +218864,7 @@ synonym: "Lisch epithelial corneal dystrophy" EXACT [OMIM:300778] xref: DOID:0060450 {source="MONDO:equivalentTo"} xref: GARD:16877 {source="Orphanet:98955"} xref: ICD10CM:H18.5 {source="DOID:0060450", source="Orphanet:98955", source="Orphanet:98955/attributed", source="Orphanet:98955/ntbt"} +xref: icd11.foundation:1571503165 {source="MONDO:equivalentTo"} xref: MESH:C567588 {source="DOID:0060450", source="MONDO:equivalentTo"} xref: OMIM:300778 {source="DOID:0060450", source="MONDO:equivalentTo", source="Orphanet:98955", source="Orphanet:98955/e"} xref: Orphanet:98955 {source="DOID:0060450", source="MONDO:equivalentTo", source="OMIM:300778"} @@ -217216,6 +218890,7 @@ synonym: "XECD" EXACT ABBREVIATION [DOID:0060446, MONDO:Lexical, OMIM:300779, Or xref: DOID:0060446 {source="MONDO:equivalentTo"} xref: GARD:17339 {source="Orphanet:293621"} xref: ICD10CM:H18.5 {source="DOID:0060446", source="Orphanet:293621", source="Orphanet:293621/attributed", source="Orphanet:293621/ntbt"} +xref: icd11.foundation:1842066261 {source="MONDO:equivalentTo"} xref: MESH:C567587 {source="DOID:0060446", source="MONDO:equivalentTo"} xref: OMIM:300779 {source="Orphanet:293621/e", source="DOID:0060446", source="MONDO:equivalentTo", source="Orphanet:293621"} xref: Orphanet:293621 {source="DOID:0060446", source="MONDO:equivalentTo", source="OMIM:300779"} @@ -217666,6 +219341,7 @@ synonym: "Bornholm eye disease, X-linked recessive" EXACT [OMIM:300843, OMIM:gen synonym: "myopia, high, with nonprogressive cone dysfunction" RELATED [OMIM:300843] xref: GARD:16782 {source="Orphanet:90001"} xref: ICD10CM:H53.8 {source="Orphanet:90001", source="Orphanet:90001/attributed", source="Orphanet:90001/ntbt"} +xref: icd11.foundation:290885874 {source="MONDO:equivalentTo"} xref: MESH:C564092 {source="MONDO:equivalentTo"} xref: OMIM:300843 {source="MONDO:equivalentTo", source="Orphanet:90001", source="Orphanet:90001/e"} xref: Orphanet:90001 {source="MONDO:equivalentTo", source="OMIM:300843"} @@ -217717,6 +219393,7 @@ synonym: "Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hy synonym: "MYMY4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300845] synonym: "syndromic Moyamoya disease" RELATED [OMIM:300845] xref: GARD:17301 {source="Orphanet:280679"} +xref: icd11.foundation:673174743 {source="MONDO:equivalentTo"} xref: OMIM:300845 {source="Orphanet:280679", source="MONDO:equivalentTo", source="Orphanet:280679/e"} xref: Orphanet:280679 {source="MONDO:equivalentTo", source="OMIM:300845"} xref: UMLS:C3151857 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:300845"} @@ -219489,6 +221166,7 @@ synonym: "Wiskott-Aldrich syndrome, X-linked recessive" EXACT [OMIM:301000, OMIM xref: DOID:9169 {source="MONDO:equivalentTo"} xref: GARD:7895 {source="Orphanet:906"} xref: ICD10CM:D82.0 {source="Orphanet:906/e", source="Orphanet:906/specific", source="MONDO:equivalentTo", source="Orphanet:906", source="DOID:9169"} +xref: icd11.foundation:168952525 {source="MONDO:equivalentTo"} xref: ICD9:279.12 {source="DOID:9169"} xref: MedDRA:10047992 {source="Orphanet:906/e", source="Orphanet:906"} xref: MESH:D014923 {source="Orphanet:906/e", source="MONDO:equivalentTo", source="Orphanet:906", source="DOID:9169"} @@ -219801,6 +221479,7 @@ xref: DOID:14499 {source="MONDO:equivalentTo"} xref: GARD:6400 {source="Orphanet:324"} xref: ICD10CM:E75.2 {source="Orphanet:324", source="Orphanet:324/ntbt", source="Orphanet:324/inclusion"} xref: ICD10CM:E75.21 {source="DOID:14499"} +xref: icd11.foundation:66996647 {source="MONDO:equivalentTo"} xref: icd11.foundation:66996647 {source="Orphanet:324", source="MONDO:equivalentTo"} xref: MedDRA:10016016 {source="Orphanet:324", source="Orphanet:324/e"} xref: MESH:D000795 {source="Orphanet:324", source="MONDO:equivalentTo", source="Orphanet:324/e", source="DOID:14499"} @@ -219848,6 +221527,7 @@ def: "Loss of or impaired ability to smell. This may be caused by olfactory nerv synonym: "anosmia" EXACT [MONDO:ambiguous, OMIM:301700] synonym: "anosmia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0000458 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:1599308422 {source="MONDO:equivalentTo"} xref: MESH:D000857 {source="MONDO:equivalentTo"} xref: SCTID:44169009 {source="MONDO:equivalentTo"} xref: UMLS:C0003126 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:301700"} @@ -219876,6 +221556,7 @@ synonym: "X-linked ataxia-deafness syndrome" EXACT [Orphanet:85297] xref: DOID:0111831 {source="MONDO:equivalentTo"} xref: GARD:9981 {source="Orphanet:85297"} xref: ICD10CM:G11.1 {source="Orphanet:85297/attributed", source="Orphanet:85297/ntbt", source="Orphanet:85297"} +xref: icd11.foundation:261426817 {source="MONDO:equivalentTo"} xref: MESH:C537315 {source="Orphanet:85297/e", source="MONDO:equivalentTo", source="Orphanet:85297"} xref: OMIM:301790 {source="Orphanet:85297/e", source="MONDO:equivalentTo", source="Orphanet:85297"} xref: Orphanet:85297 {source="OMIM:301790", source="MONDO:equivalentTo"} @@ -220018,6 +221699,7 @@ synonym: "X-linked ataxia-dementia syndrome" EXACT [Orphanet:85292] xref: DOID:0111832 {source="MONDO:equivalentTo"} xref: GARD:9980 {source="Orphanet:85292"} xref: ICD10CM:G11.1 {source="Orphanet:85292/attributed", source="Orphanet:85292/ntbt", source="Orphanet:85292"} +xref: icd11.foundation:1033689736 {source="MONDO:equivalentTo"} xref: MESH:C537316 {source="Orphanet:85292/e", source="MONDO:equivalentTo", source="Orphanet:85292"} xref: OMIM:301840 {source="Orphanet:85292/e", source="MONDO:equivalentTo", source="Orphanet:85292"} xref: Orphanet:85292 {source="MONDO:equivalentTo", source="OMIM:301840"} @@ -220174,6 +221856,7 @@ synonym: "X-linked branchial arch syndrome" EXACT [Orphanet:1131] synonym: "X-linked mandibulofacial dysostosis with limb anomalies" EXACT [Orphanet:1131] xref: GARD:1002 {source="Orphanet:1131"} xref: ICD10CM:Q75.4 {source="Orphanet:1131", source="Orphanet:1131/attributed", source="Orphanet:1131/ntbt"} +xref: icd11.foundation:135565112 {source="MONDO:equivalentTo"} xref: MESH:C537102 {source="MONDO:equivalentTo"} xref: OMIM:301950 {source="Orphanet:1131", source="MONDO:equivalentTo", source="Orphanet:1131/e"} xref: Orphanet:1131 {source="MONDO:equivalentTo", source="OMIM:301950"} @@ -220298,6 +221981,7 @@ xref: DOID:0050476 {source="MONDO:equivalentTo"} xref: GARD:5890 {source="Orphanet:111"} xref: ICD10CM:E71.1 {source="Orphanet:111/attributed", source="Orphanet:111/ntbt", source="Orphanet:111"} xref: ICD10CM:E78.71 {source="DOID:0050476", source="MONDO:equivalentTo"} +xref: icd11.foundation:452199926 {source="MONDO:equivalentTo"} xref: MESH:D056889 {source="DOID:0050476", source="Orphanet:111/e", source="MONDO:equivalentTo", source="Orphanet:111"} xref: NCIT:C84585 {source="DOID:0050476", source="MONDO:equivalentTo"} xref: NORD:840 {source="MONDO:NORD"} @@ -220370,6 +222054,7 @@ synonym: "NHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:302350] xref: DOID:0060599 {source="MONDO:equivalentTo"} xref: GARD:7161 {source="Orphanet:627"} xref: ICD10CM:Q87.0 {source="Orphanet:627", source="DOID:0060599", source="Orphanet:627/attributed", source="Orphanet:627/ntbt"} +xref: icd11.foundation:938299000 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538336 {source="MONDO:equivalentTo", source="Orphanet:627", source="DOID:0060599", source="Orphanet:627/e"} xref: NORD:1489 {source="MONDO:NORD"} @@ -220678,6 +222363,7 @@ xref: DOID:9821 {source="MONDO:equivalentTo"} xref: GARD:6061 {source="Orphanet:180"} xref: ICD10CM:H31.2 {source="Orphanet:180/ntbt", source="Orphanet:180/inclusion", source="Orphanet:180"} xref: ICD10CM:H31.21 {source="DOID:9821", source="MONDO:equivalentTo"} +xref: icd11.foundation:217923263 {source="MONDO:equivalentTo"} xref: ICD9:363.55 {source="DOID:9821", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10008791 {source="Orphanet:180", source="Orphanet:180/e"} xref: MESH:D015794 {source="DOID:9821", source="Orphanet:180", source="MONDO:equivalentTo", source="Orphanet:180/e"} @@ -220760,6 +222446,7 @@ synonym: "X-linked spastic paraplegia 1" EXACT [DOID:0060246] xref: DOID:0060246 {source="MONDO:equivalentTo"} xref: GARD:6986 {source="Orphanet:2466"} xref: ICD10CM:G11.4 {source="Orphanet:2466/attributed", source="Orphanet:2466/ntbt", source="DOID:0060246", source="Orphanet:2466"} +xref: icd11.foundation:1973644723 {source="MONDO:equivalentTo"} xref: MESH:C536029 {source="DOID:0060246", source="Orphanet:2466", source="Orphanet:2466/e"} xref: NCIT:C129930 {source="MONDO:equivalentTo"} xref: OMIM:303350 {source="DOID:0060246", source="Orphanet:2466", source="MONDO:equivalentTo", source="Orphanet:2466/e"} @@ -220827,6 +222514,7 @@ synonym: "mental retardation with osteocartilaginous abnormalities" RELATED DEPR xref: DOID:3783 {source="MONDO:equivalentTo"} xref: GARD:6123 {source="Orphanet:192"} xref: ICD10CM:Q87.0 {source="Orphanet:192", source="Orphanet:192/attributed", source="Orphanet:192/ntbt"} +xref: icd11.foundation:380089065 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536435 {source="MONDO:equivalentTo"} xref: MESH:D038921 {source="DOID:3783", source="MONDO:equivalentTo", source="Orphanet:192", source="Orphanet:192/e"} @@ -221052,6 +222740,7 @@ synonym: "corpus callosum, agenesis of, with chorioretinal Abnormality" RELATED xref: DOID:8461 {source="MONDO:equivalentTo"} xref: GARD:5764 {source="Orphanet:50"} xref: ICD10CM:Q04.0 {source="Orphanet:50/attributed", source="Orphanet:50/ntbt", source="Orphanet:50"} +xref: icd11.foundation:2057245946 {source="MONDO:equivalentTo"} xref: MedDRA:10054935 {source="Orphanet:50/e", source="Orphanet:50"} xref: MESH:D058540 {source="Orphanet:50/e", source="MONDO:equivalentTo", source="DOID:8461", source="Orphanet:50"} xref: NCIT:C35256 {source="MONDO:equivalentTo", source="DOID:8461"} @@ -221087,6 +222776,7 @@ synonym: "X-linked partial agenesis of corpus callosum" RELATED [GARD:0012526] synonym: "X-linked partial corpus callosum agenesis" RELATED [GARD:0012526] xref: GARD:12526 {source="Orphanet:1497"} xref: ICD10CM:Q04.8 {source="Orphanet:1497", source="Orphanet:1497/attributed", source="Orphanet:1497/ntbt"} +xref: icd11.foundation:1765391162 {source="MONDO:equivalentTo"} xref: MESH:C564115 {source="MONDO:equivalentTo"} xref: OMIM:304100 {source="Orphanet:1497", source="MONDO:equivalentTo", source="Orphanet:1497/e"} xref: Orphanet:1497 {source="OMIM:304100", source="MONDO:equivalentTo"} @@ -221160,6 +222850,7 @@ synonym: "otopalatodigital syndrome, type II, X-linked dominant" EXACT [OMIM:304 xref: DOID:0111784 {source="MONDO:equivalentTo"} xref: GARD:5802 {source="Orphanet:90652"} xref: ICD10CM:Q87.0 {source="Orphanet:90652", source="Orphanet:90652/attributed", source="Orphanet:90652/ntbt"} +xref: icd11.foundation:1897308206 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538089 {source="MONDO:equivalentTo", source="Orphanet:90652", source="Orphanet:90652/e"} xref: NORD:1539 {source="MONDO:NORD"} @@ -221485,6 +223176,7 @@ synonym: "Guizar-Vazquez Luengas-Munoz syndrome" RELATED [MESH:C535376] synonym: "Guízar Vázquez-Luengas-muñoz syndrome" EXACT [Orphanet:1661] xref: GARD:2580 {source="Orphanet:1661"} xref: ICD10CM:Q13.4 {source="Orphanet:1661/attributed", source="Orphanet:1661/ntbt", source="Orphanet:1661"} +xref: icd11.foundation:118076382 {source="MONDO:equivalentTo"} xref: MESH:C535376 {source="MONDO:equivalentTo"} xref: OMIM:304730 {source="Orphanet:1661", source="MONDO:equivalentTo", source="Orphanet:1661/e", source="GARD:0002580"} xref: Orphanet:1661 {source="OMIM:304730", source="MONDO:equivalentTo"} @@ -221672,6 +223364,7 @@ synonym: "Xlhed" RELATED [OMIM:305100] xref: DOID:0111664 {source="MONDO:equivalentTo"} xref: GARD:10427 {source="Orphanet:181"} xref: ICD10CM:Q82.4 {source="Orphanet:181", source="Orphanet:181/attributed", source="Orphanet:181/ntbt"} +xref: icd11.foundation:941793098 {source="MONDO:equivalentTo"} xref: MESH:D053358 {source="Orphanet:181", source="Orphanet:181/e"} xref: OMIM:305100 {source="MONDO:equivalentTo", source="Orphanet:181", source="Orphanet:181/e"} xref: Orphanet:181 {source="OMIM:305100", source="MONDO:equivalentTo"} @@ -221861,6 +223554,7 @@ subset: rare synonym: "fingerprint body myopathy" EXACT [OMIM:305550] xref: GARD:12720 {source="Orphanet:97232"} xref: ICD10CM:G71.2 {source="Orphanet:97232/attributed", source="Orphanet:97232/ntbt", source="Orphanet:97232"} +xref: icd11.foundation:1251733531 {source="MONDO:equivalentTo"} xref: MESH:C564425 {source="MONDO:equivalentTo"} xref: OMIM:305550 {source="Orphanet:97232/e", source="MONDO:equivalentTo", source="Orphanet:97232"} xref: Orphanet:97232 {source="MONDO:equivalentTo", source="OMIM:305550"} @@ -221888,6 +223582,7 @@ synonym: "Goltz-Gorlin syndrome" EXACT [OMIM:305600, Orphanet:2092] xref: DOID:2120 {source="MONDO:equivalentTo"} xref: GARD:6457 {source="Orphanet:2092"} xref: ICD10CM:Q82.8 {source="Orphanet:2092", source="Orphanet:2092/index", source="Orphanet:2092/ntbt"} +xref: icd11.foundation:683166625 {source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D005489 {source="DOID:2120", source="MONDO:equivalentTo", source="Orphanet:2092", source="Orphanet:2092/e"} xref: NCIT:C84715 {source="DOID:2120", source="MONDO:equivalentTo"} @@ -222546,6 +224241,7 @@ xref: DOID:0111388 {source="MONDO:equivalentTo"} xref: GARD:16589 {source="Orphanet:2239"} xref: GARD:2914 {source="OMIM:307700"} xref: ICD10CM:E20.8 {source="Orphanet:2239", source="Orphanet:2239/attributed", source="Orphanet:2239/ntbt"} +xref: icd11.foundation:1282942432 {source="MONDO:equivalentTo"} xref: MESH:C563238 {source="MONDO:equivalentTo"} xref: NCIT:C131079 {source="MONDO:equivalentTo"} xref: OMIM:307700 {source="MONDO:equivalentTo", source="Orphanet:2239", source="Orphanet:2239/e"} @@ -222910,6 +224606,7 @@ xref: EFO:1000672 {source="MONDO:equivalentTo"} xref: GARD:6778 {source="Orphanet:464"} xref: ICD10CM:Q82.3 {source="Orphanet:464/specific", source="DOID:12305", source="Orphanet:464/e", source="Orphanet:464"} xref: icd11.foundation:1542530268 {source="MONDO:equivalentTo", source="Orphanet:464"} +xref: icd11.foundation:1542530268 {source="MONDO:equivalentTo"} xref: MESH:D007184 {source="DOID:12305", source="Orphanet:464/e", source="MONDO:equivalentTo", source="Orphanet:464"} xref: NCIT:C84787 {source="DOID:12305", source="MONDO:equivalentTo"} xref: NORD:1300 {source="MONDO:NORD"} @@ -223250,6 +224947,7 @@ xref: GARD:3295 {source="Orphanet:534"} xref: ICD10CM:E72.0 {source="Orphanet:534/ntbt", source="Orphanet:534", source="Orphanet:534/inclusion"} xref: ICD10CM:E72.03 {source="DOID:1056"} xref: icd11.foundation:1392767390 {source="Orphanet:534", source="MONDO:equivalentTo"} +xref: icd11.foundation:1392767390 {source="MONDO:equivalentTo"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10051707 {source="Orphanet:534", source="Orphanet:534/e"} xref: MESH:D009800 {source="DOID:1056", source="Orphanet:534", source="MONDO:equivalentTo", source="Orphanet:534/e"} @@ -223418,6 +225116,7 @@ synonym: "X-linked copper deficiency" EXACT [Orphanet:565] xref: DOID:1838 {source="MONDO:equivalentTo"} xref: GARD:1521 {source="Orphanet:565"} xref: ICD10CM:E83.0 {source="Orphanet:565", source="Orphanet:565/ntbt", source="Orphanet:565/inclusion"} +xref: icd11.foundation:986728180 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10027294 {source="Orphanet:565", source="Orphanet:565/e"} xref: MESH:D007706 {source="MONDO:equivalentTo", source="DOID:1838"} @@ -223513,6 +225212,7 @@ synonym: "X-linked mental retardation with spastic diplegia" EXACT DEPRECATED [D xref: DOID:0060179 {source="MONDO:equivalentTo"} xref: GARD:9509 {source="Orphanet:3242"} xref: ICD10CM:Q87.5 {source="DOID:0060179", source="Orphanet:3242/attributed", source="Orphanet:3242/ntbt", source="Orphanet:3242"} +xref: icd11.foundation:1415315699 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537761 {source="MONDO:equivalentTo"} xref: NCIT:C165533 {source="MONDO:equivalentTo"} @@ -223936,6 +225636,7 @@ synonym: "X-linked intellectual disability - gynecomastia - obesity" RELATED [GA synonym: "X-linked intellectual disability-gynecomastia-obesity syndrome" EXACT [DOID:0060814, Orphanet:3459] xref: DOID:0060814 {source="MONDO:equivalentTo"} xref: GARD:5579 {source="Orphanet:3459"} +xref: icd11.foundation:2015561482 {source="MONDO:equivalentTo"} xref: MESH:C536708 {source="MONDO:equivalentTo"} xref: OMIM:309585 {source="MONDO:equivalentTo", source="Orphanet:3459", source="Orphanet:3459/e", source="DOID:0060814"} xref: Orphanet:3459 {source="MONDO:equivalentTo", source="OMIM:309585", source="DOID:0060814"} @@ -224041,6 +225742,7 @@ synonym: "non-syndromic syndactyly caused by mutation in FGF16" EXACT [MONDO:des xref: DOID:0111813 {source="MONDO:equivalentTo"} xref: GARD:3559 {source="Orphanet:2498"} xref: ICD10CM:Q70.0 {source="Orphanet:2498", source="Orphanet:2498/attributed", source="Orphanet:2498/ntbt"} +xref: icd11.foundation:577712860 {source="MONDO:equivalentTo"} xref: MESH:C564100 {source="MONDO:equivalentTo"} xref: OMIM:309630 {source="Orphanet:2498", source="GARD:0003559", source="MONDO:equivalentTo", source="Orphanet:2498/e"} xref: Orphanet:2498 {source="GARD:0003559", source="MONDO:equivalentTo", source="OMIM:309630"} @@ -224199,6 +225901,7 @@ xref: GARD:19016 {source="Orphanet:79388"} xref: GARD:6675 {source="Orphanet:580"} xref: ICD10CM:E76.1 {source="DOID:12799", source="MONDO:equivalentTo", source="Orphanet:580/specific", source="Orphanet:580", source="Orphanet:580/e"} xref: icd11.foundation:1056274204 {source="MONDO:equivalentTo", source="Orphanet:580"} +xref: icd11.foundation:1056274204 {source="MONDO:equivalentTo"} xref: MedDRA:10056889 {source="Orphanet:580", source="Orphanet:580/e"} xref: MESH:D016532 {source="DOID:12799", source="MONDO:equivalentTo", source="Orphanet:580", source="Orphanet:580/e"} xref: NCIT:C61260 {source="DOID:12799", source="MONDO:equivalentTo"} @@ -224291,6 +225994,7 @@ xref: DOID:11723 {source="MONDO:equivalentTo"} xref: GARD:6291 {source="Orphanet:98896"} xref: ICD10CM:G71.0 {source="Orphanet:98896/ntbt", source="Orphanet:98896", source="Orphanet:98896/inclusion"} xref: icd11.foundation:1479561744 {source="Orphanet:98896", source="MONDO:equivalentTo"} +xref: icd11.foundation:1479561744 {source="MONDO:equivalentTo"} xref: MedDRA:10013801 {source="Orphanet:98896", source="Orphanet:98896/e"} xref: MESH:D020388 {source="DOID:11723", source="Orphanet:98896", source="MONDO:equivalentTo", source="Orphanet:98896/e"} xref: NCIT:C75482 {source="DOID:11723", source="MONDO:equivalentTo"} @@ -224463,6 +226167,7 @@ synonym: "NSX" EXACT ABBREVIATION [DOID:0050769, MONDO:Lexical, OMIM:310465] xref: DOID:0050769 {source="MONDO:equivalentTo"} xref: GARD:3902 {source="Orphanet:2608"} xref: ICD10CM:Q87.8 {source="Orphanet:2608/attributed", source="Orphanet:2608/ntbt", source="Orphanet:2608"} +xref: icd11.foundation:2040480507 {source="MONDO:equivalentTo"} xref: MESH:C536108 {source="Orphanet:2608/e", source="MONDO:equivalentTo", source="Orphanet:2608"} xref: OMIM:310465 {source="Orphanet:2608/e", source="MONDO:equivalentTo", source="DOID:0050769", source="Orphanet:2608"} xref: Orphanet:2608 {source="MONDO:equivalentTo", source="OMIM:310465", source="DOID:0050769"} @@ -224622,6 +226327,7 @@ synonym: "pseudoglioma" RELATED [GARD:0007224] xref: DOID:0060844 {source="MONDO:equivalentTo"} xref: GARD:7224 {source="Orphanet:649"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:649", source="DOID:0060844", source="Orphanet:649/attributed", source="Orphanet:649/ntbt"} +xref: icd11.foundation:676214590 {source="MONDO:equivalentTo"} xref: ICD9:743.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10069760 {source="Orphanet:649", source="Orphanet:649/e"} xref: MESH:C537849 {source="MONDO:equivalentTo", source="Orphanet:649", source="DOID:0060844", source="Orphanet:649/e"} @@ -224886,6 +226592,7 @@ xref: DOID:9271 {source="MONDO:equivalentTo", source="EFO:0007409"} xref: EFO:0007409 {source="MONDO:equivalentTo"} xref: GARD:8391 {source="Orphanet:664"} xref: ICD10CM:E72.4 {source="Orphanet:664", source="Orphanet:664/ntbt", source="DOID:9271", source="Orphanet:664/inclusion"} +xref: icd11.foundation:1822444026 {source="MONDO:equivalentTo"} xref: MedDRA:10052450 {source="Orphanet:664", source="Orphanet:664/e"} xref: MESH:D020163 {source="Orphanet:664", source="MONDO:equivalentTo", source="DOID:9271", source="Orphanet:664/e", source="EFO:0007409"} xref: NCIT:C84957 {source="MONDO:equivalentTo", source="DOID:9271"} @@ -224924,6 +226631,7 @@ synonym: "Taybi syndrome" EXACT [Orphanet:90650] xref: DOID:0111783 {source="MONDO:equivalentTo"} xref: GARD:5121 {source="Orphanet:90650"} xref: ICD10CM:Q87.0 {source="Orphanet:90650", source="Orphanet:90650/attributed", source="Orphanet:90650/ntbt"} +xref: icd11.foundation:1442049882 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C118845 {source="MONDO:equivalentTo"} xref: OMIM:311300 {source="MONDO:equivalentTo", source="Orphanet:90650", source="Orphanet:90650/e"} @@ -225512,6 +227220,7 @@ synonym: "RTT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:312750] xref: DOID:1206 {source="MONDO:equivalentTo"} xref: GARD:5696 {source="Orphanet:778"} xref: ICD10CM:F84.2 {source="Orphanet:778", source="Orphanet:778/specific", source="DOID:1206", source="Orphanet:778/e"} +xref: icd11.foundation:201200685 {source="MONDO:equivalentTo"} xref: icd11.foundation:201200685 {source="Orphanet:778", source="MONDO:equivalentTo"} xref: ICD9:330.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10039000 {source="Orphanet:778", source="Orphanet:778/e"} @@ -225566,6 +227275,7 @@ synonym: "SCARF syndrome" EXACT [OMIM:312830] synonym: "skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and Facial abnormalities" RELATED [OMIM:312830] xref: GARD:247 {source="Orphanet:3134"} xref: ICD10CM:Q82.8 {source="Orphanet:3134", source="Orphanet:3134/attributed", source="Orphanet:3134/ntbt"} +xref: icd11.foundation:1075253748 {source="MONDO:equivalentTo"} xref: MESH:C536625 {source="Orphanet:3134", source="MONDO:equivalentTo", source="Orphanet:3134/e"} xref: OMIM:312830 {source="Orphanet:3134", source="MONDO:equivalentTo", source="Orphanet:3134/e"} xref: Orphanet:3134 {source="MONDO:equivalentTo", source="OMIM:312830"} @@ -225644,6 +227354,7 @@ synonym: "Simpson-Golabi-Behmel syndrome" EXACT CLINGEN_LABEL [] synonym: "X-linked dysplasia gigantism syndrome" EXACT [DOID:0060248, Orphanet:373] xref: GARD:7649 {source="Orphanet:373"} xref: ICD10CM:Q87.3 {source="Orphanet:373", source="Orphanet:373/attributed", source="Orphanet:373/ntbt"} +xref: icd11.foundation:181316558 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537340 {source="Orphanet:373/e", source="DOID:0060248", source="MONDO:equivalentTo", source="Orphanet:373"} xref: NCIT:C118787 {source="DOID:0060248"} @@ -225833,6 +227544,7 @@ synonym: "X linked spondyloepiphyseal dysplasia tarda" RELATED [GARD:0004985] synonym: "X-linked spondyloepiphyseal dysplasia" RELATED [GARD:0004985] xref: DOID:0080362 {source="MONDO:equivalentTo"} xref: GARD:4985 {source="OMIM:313400"} +xref: icd11.foundation:219612045 {source="MONDO:equivalentTo"} xref: OMIM:313400 {source="MONDO:equivalentTo"} xref: Orphanet:93284 {source="OMIM:313400"} xref: UMLS:C0220776 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} @@ -225862,6 +227574,7 @@ synonym: "spondylometaphyseal dysplasia, X-linked" RELATED [OMIM:313420] synonym: "X-linked spondylometaphyseal dysplasia" EXACT [Orphanet:168544] xref: GARD:8343 {source="Orphanet:168544"} xref: ICD10CM:Q77.8 {source="Orphanet:168544/attributed", source="Orphanet:168544/ntbt", source="Orphanet:168544"} +xref: icd11.foundation:840695879 {source="MONDO:equivalentTo"} xref: MESH:C563124 {source="MONDO:equivalentTo"} xref: OMIM:313420 {source="Orphanet:168544", source="MONDO:equivalentTo", source="Orphanet:168544/e"} xref: Orphanet:168544 {source="OMIM:313420", source="MONDO:equivalentTo"} @@ -226012,6 +227725,7 @@ synonym: "XLTT" EXACT ABBREVIATION [MONDO:Lexical, OMIM:314050, Orphanet:231393] xref: DOID:0111767 {source="MONDO:equivalentTo"} xref: GARD:17166 {source="Orphanet:231393"} xref: ICD10CM:D69.4 {source="Orphanet:231393/attributed", source="Orphanet:231393/ntbt", source="Orphanet:231393"} +xref: icd11.foundation:905057212 {source="MONDO:equivalentTo"} xref: MESH:C564050 {source="MONDO:equivalentTo"} xref: NCIT:C134941 {source="MONDO:equivalentTo"} xref: OMIM:314050 {source="Orphanet:231393/e", source="MONDO:equivalentTo", source="Orphanet:231393"} @@ -226537,6 +228251,7 @@ synonym: "gonad blastoma" EXACT [MONDO:patterns/location] synonym: "gonadoblastoma" EXACT [NCIT:C3754] xref: DOID:3301 {source="MONDO:equivalentTo"} xref: ICD10CM:D39.1 {source="Orphanet:206484/ntbt", source="Orphanet:206484"} +xref: icd11.foundation:582746121 {source="MONDO:equivalentTo"} xref: ICDO:9073/1 {source="NCIT:C3754"} xref: MESH:D018238 {source="DOID:3301", source="MONDO:equivalentTo"} xref: NCIT:C3754 {source="DOID:3301", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -226601,6 +228316,7 @@ synonym: "Purkinje cell hamartoma" EXACT [NCIT:C45745] xref: DOID:0080198 {source="MONDO:equivalentTo"} xref: GARD:9511 {source="Orphanet:137675"} xref: ICD10CM:I42.0 {source="Orphanet:137675", source="Orphanet:137675/attributed", source="Orphanet:137675/ntbt"} +xref: icd11.foundation:1870618141 {source="MONDO:equivalentTo"} xref: MESH:C535584 {source="Orphanet:137675", source="MONDO:equivalentTo", source="Orphanet:137675/e"} xref: NCIT:C45745 {source="MONDO:equivalentTo"} xref: OMIM:500000 {source="Orphanet:137675", source="DOID:0080198", source="MONDO:equivalentTo", source="Orphanet:137675/e", source="GARD:0009511"} @@ -226730,6 +228446,7 @@ synonym: "Cvs-plus" RELATED [OMIM:500007] synonym: "cyclic vomiting syndrome" EXACT [MONDO:Lexical, OMIM:500007] synonym: "cyclic vomiting syndrome with neuromuscular disease" RELATED [OMIM:500007] synonym: "cyclic vomiting syndrome-plus" RELATED [OMIM:500007] +xref: icd11.foundation:1434288855 {source="MONDO:equivalentTo"} xref: OMIM:500007 {source="MONDO:equivalentTo"} xref: UMLS:C0152164 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:500007"} xref: UMLS:C1838991 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:500007"} @@ -226786,6 +228503,7 @@ synonym: "reversible infantile cytochrome C oxidase deficiency" EXACT [Orphanet: synonym: "reversible infantile respiratory chain deficiency" EXACT [Orphanet:254864] xref: GARD:17227 {source="Orphanet:254864"} xref: ICD10CM:G71.3 {source="Orphanet:254864", source="Orphanet:254864/attributed", source="Orphanet:254864/ntbt"} +xref: icd11.foundation:723205095 {source="MONDO:equivalentTo"} xref: OMIM:500009 {source="MONDO:equivalentTo", source="Orphanet:254864", source="Orphanet:254864/e"} xref: Orphanet:254864 {source="MONDO:equivalentTo", source="OMIM:500009"} xref: UMLS:C3151898 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:500009"} @@ -226928,6 +228646,7 @@ xref: DOID:12934 {source="MONDO:equivalentTo"} xref: GARD:6817 {source="Orphanet:480"} xref: ICD10CM:H49.8 {source="Orphanet:480/inclusion", source="Orphanet:480", source="Orphanet:480/ntbt"} xref: ICD10CM:H49.81 {source="DOID:12934"} +xref: icd11.foundation:399100745 {source="MONDO:equivalentTo"} xref: MedDRA:10048804 {source="Orphanet:480", source="Orphanet:480/e"} xref: MESH:D007625 {source="DOID:12934", source="MONDO:equivalentTo", source="Orphanet:480", source="Orphanet:480/e"} xref: NCIT:C84798 {source="DOID:12934", source="MONDO:equivalentTo"} @@ -226973,6 +228692,7 @@ xref: DOID:705 {source="MONDO:equivalentTo"} xref: GARD:6870 {source="Orphanet:104"} xref: ICD10CM:H47.2 {source="Orphanet:104", source="Orphanet:104/attributed", source="Orphanet:104/ntbt"} xref: ICD10CM:H47.22 {source="DOID:705"} +xref: icd11.foundation:1018428959 {source="MONDO:equivalentTo"} xref: MESH:D029242 {source="DOID:705", source="MONDO:equivalentTo"} xref: NCIT:C84808 {source="DOID:705", source="MONDO:equivalentTo"} xref: NORD:1352 {source="MONDO:NORD"} @@ -227107,6 +228827,7 @@ synonym: "LIMM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:551000, Orphanet:254857] synonym: "mitochondrial myopathy, lethal, infantile" RELATED [MONDO:Lexical, OMIM:551000] xref: GARD:17226 {source="Orphanet:254857"} xref: ICD10CM:G71.3 {source="Orphanet:254857", source="Orphanet:254857/attributed", source="Orphanet:254857/ntbt"} +xref: icd11.foundation:642272262 {source="MONDO:equivalentTo"} xref: MESH:C564017 {source="MONDO:equivalentTo"} xref: OMIM:551000 {source="Orphanet:254857/e", source="MONDO:equivalentTo", source="Orphanet:254857"} xref: Orphanet:254857 {source="MONDO:equivalentTo", source="OMIM:551000"} @@ -227202,6 +228923,7 @@ synonym: "sideroblastic anemia with marrow cell vacuolization and exocrine pancr xref: DOID:0060067 {source="MONDO:equivalentTo"} xref: GARD:7343 {source="Orphanet:699"} xref: ICD10CM:D64.0 {source="Orphanet:699/attributed", source="Orphanet:699/ntbt", source="Orphanet:699"} +xref: icd11.foundation:452521132 {source="MONDO:equivalentTo"} xref: ICD9:277.87 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10062941 {source="Orphanet:699", source="Orphanet:699/e"} xref: NCIT:C115326 {source="MONDO:equivalentTo"} @@ -227359,6 +229081,7 @@ synonym: "Eiken skeletal dysplasia" RELATED [OMIM:600002] synonym: "Eiken syndrome" EXACT [OMIM:600002] xref: DOID:0111732 {source="MONDO:equivalentTo"} xref: GARD:16698 {source="Orphanet:79106"} +xref: icd11.foundation:467339994 {source="MONDO:equivalentTo"} xref: MESH:C564010 {source="MONDO:equivalentTo"} xref: OMIM:600002 {source="Orphanet:79106", source="MONDO:equivalentTo", source="Orphanet:79106/e"} xref: Orphanet:79106 {source="OMIM:600002", source="MONDO:equivalentTo"} @@ -227492,6 +229215,7 @@ xref: DOID:0050433 {source="MONDO:equivalentTo"} xref: GARD:6429 {source="Orphanet:466"} xref: ICD10CM:A81.8 {source="Orphanet:466", source="Orphanet:466/attributed", source="Orphanet:466/ntbt"} xref: ICD10CM:A81.83 {source="DOID:0050433", source="MONDO:equivalentTo"} +xref: icd11.foundation:669154658 {source="MONDO:equivalentTo"} xref: icd11.foundation:669154658 {source="Orphanet:466", source="MONDO:equivalentTo"} xref: ICD9:046.72 {source="DOID:0050433"} xref: MedDRA:10072077 {source="Orphanet:466", source="Orphanet:466/e"} @@ -227883,6 +229607,7 @@ synonym: "rhizomelic chondrodysplasia punctata, type 3" RELATED [GARD:0009682, M xref: DOID:0110853 {source="MONDO:equivalentTo"} xref: GARD:9682 {source="Orphanet:309803"} xref: ICD10CM:Q77.3 {source="DOID:0110853", source="Orphanet:309803", source="Orphanet:309803/attributed", source="Orphanet:309803/ntbt"} +xref: icd11.foundation:110878063 {source="MONDO:equivalentTo"} xref: MESH:C537608 {source="MONDO:equivalentTo"} xref: OMIM:600121 {source="DOID:0110853", source="Orphanet:309803", source="MONDO:equivalentTo", source="Orphanet:309803/e"} xref: Orphanet:177 {source="OMIM:600121"} @@ -227971,6 +229696,7 @@ xref: DOID:1825 {source="MONDO:equivalentTo"} xref: GARD:16667 {source="Orphanet:64280"} xref: ICD10CM:G40.3 {source="Orphanet:64280/inclusion", source="Orphanet:64280", source="Orphanet:64280/ntbt"} xref: ICD10CM:G40.A {source="DOID:1825"} +xref: icd11.foundation:726403046 {source="MONDO:equivalentTo"} xref: icd11.foundation:726403046 {source="MONDO:equivalentTo", source="Orphanet:64280"} xref: MESH:D004832 {source="DOID:1825"} xref: NCIT:C3023 {source="DOID:1825"} @@ -228273,6 +229999,7 @@ xref: DOID:11202 {source="MONDO:equivalentTo"} xref: EFO:0008519 {source="MONDO:equivalentTo"} xref: HP:0008200 {source="MONDO:otherHierarchy"} xref: ICD10CM:E21.0 {source="DOID:11202"} +xref: icd11.foundation:817194045 {source="MONDO:equivalentTo"} xref: ICD9:252.01 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11202"} xref: MESH:D049950 {source="MONDO:equivalentTo", source="DOID:11202"} xref: NCIT:C48280 {source="MONDO:equivalentTo", source="DOID:11202"} @@ -228488,6 +230215,7 @@ synonym: "spinocerebellar ataxia, autosomal dominant, with sensory axonal neurop xref: DOID:0050957 {source="MONDO:equivalentTo"} xref: GARD:9970 {source="Orphanet:98765"} xref: ICD10CM:G11.2 {source="Orphanet:98765", source="Orphanet:98765/attributed", source="Orphanet:98765/ntbt"} +xref: icd11.foundation:1686006145 {source="MONDO:equivalentTo"} xref: OMIM:600223 {source="Orphanet:98765", source="MONDO:equivalentTo", source="Orphanet:98765/e"} xref: Orphanet:98765 {source="OMIM:600223", source="MONDO:equivalentTo"} xref: SCTID:715755008 {source="MONDO:equivalentTo"} @@ -228509,6 +230237,7 @@ synonym: "spinocerebellar ataxia type 5" EXACT [MONDORULE:1, OMIM:600224] xref: DOID:0050882 {source="MONDO:equivalentTo"} xref: GARD:4953 {source="Orphanet:98766"} xref: ICD10CM:G11.2 {source="Orphanet:98766/attributed", source="Orphanet:98766/ntbt", source="Orphanet:98766"} +xref: icd11.foundation:78905851 {source="MONDO:equivalentTo"} xref: OMIM:600224 {source="DOID:0050882", source="Orphanet:98766", source="MONDO:equivalentTo", source="Orphanet:98766/e"} xref: Orphanet:98766 {source="OMIM:600224", source="MONDO:equivalentTo"} xref: SCTID:719302009 {source="MONDO:equivalentTo"} @@ -228552,6 +230281,7 @@ synonym: "oculomaxillofacial dysplasia with oblique Facial clefts" RELATED [OMIM xref: DOID:0111706 {source="MONDO:equivalentTo"} xref: GARD:16974 {source="Orphanet:141258"} xref: ICD10CM:Q18.8 {source="Orphanet:141258", source="Orphanet:141258/attributed", source="Orphanet:141258/ntbt"} +xref: icd11.foundation:1796306367 {source="MONDO:equivalentTo"} xref: OMIM:600251 {source="MONDO:equivalentTo", source="Orphanet:141258", source="Orphanet:141258/e"} xref: Orphanet:141258 {source="MONDO:equivalentTo", source="OMIM:600251"} xref: UMLS:C1838348 {source="MONDO:ncbi_mim2gene_medline", source="OMIM:600251"} @@ -228573,6 +230303,7 @@ synonym: "Lowry-MacLean syndrome" EXACT [OMIM:600252] synonym: "mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure" RELATED DEPRECATED [GARD:0003300] xref: GARD:3300 {source="Orphanet:2409"} xref: ICD10CM:Q87.8 {source="Orphanet:2409/attributed", source="Orphanet:2409/ntbt", source="Orphanet:2409"} +xref: icd11.foundation:698387769 {source="MONDO:equivalentTo"} xref: MESH:C537037 {source="Orphanet:2409/e", source="MONDO:equivalentTo", source="Orphanet:2409"} xref: OMIM:600252 {source="Orphanet:2409/e", source="MONDO:equivalentTo", source="Orphanet:2409"} xref: Orphanet:2409 {source="OMIM:600252", source="MONDO:equivalentTo"} @@ -228640,6 +230371,7 @@ synonym: "oes" RELATED [MONDO:Lexical, OMIM:600268] synonym: "Toriello Lacassie Droste syndrome" RELATED [GARD:0010366] xref: DOID:0111705 {source="MONDO:equivalentTo"} xref: GARD:10366 {source="Orphanet:3339"} +xref: icd11.foundation:1983176633 {source="MONDO:equivalentTo"} xref: MESH:C563969 {source="MONDO:equivalentTo"} xref: OMIM:600268 {source="MONDO:equivalentTo", source="Orphanet:3339", source="Orphanet:3339/e"} xref: Orphanet:3339 {source="OMIM:600268", source="MONDO:equivalentTo"} @@ -228689,6 +230421,7 @@ synonym: "polycystic kidneys, severe infantile with tuberous sclerosis" RELATED synonym: "tuberous sclerosis polycystic kidney disease contiguous gene syndrome" RELATED [GARD:0009481] synonym: "tuberous sclerosis/polycystic kidney disease contiguous gene syndrome" EXACT [Orphanet:88924] xref: GARD:9481 {source="Orphanet:88924"} +xref: icd11.foundation:1781576728 {source="MONDO:equivalentTo"} xref: MESH:C536328 {source="MONDO:equivalentTo"} xref: OMIM:600273 {source="MONDO:equivalentTo", source="Orphanet:88924", source="Orphanet:88924/e"} xref: Orphanet:88924 {source="MONDO:equivalentTo", source="OMIM:600273"} @@ -228903,6 +230636,7 @@ synonym: "ASSA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600325, Orphanet:221120] synonym: "pseudoaminopterin syndrome" EXACT [OMIM:600325] xref: GARD:4544 {source="Orphanet:221120"} xref: ICD10CM:Q82.0 {source="Orphanet:221120", source="MONDO:relatedTo", source="Orphanet:221120/attributed", source="Orphanet:221120/ntbt"} +xref: icd11.foundation:893045173 {source="MONDO:equivalentTo"} xref: MESH:C535823 {source="MONDO:equivalentTo"} xref: OMIM:600325 {source="Orphanet:221120", source="MONDO:equivalentTo", source="Orphanet:221120/e"} xref: Orphanet:221120 {source="MONDO:equivalentTo", source="OMIM:600325"} @@ -228931,6 +230665,7 @@ synonym: "osteopetrosis and infantile neuroaxonal dystrophy" RELATED [OMIM:60032 xref: DOID:0070343 {source="MONDO:equivalentTo"} xref: GARD:10082 {source="Orphanet:85179"} xref: ICD10CM:Q78.2 {source="Orphanet:85179/attributed", source="Orphanet:85179/ntbt", source="Orphanet:85179"} +xref: icd11.foundation:1434293148 {source="MONDO:equivalentTo"} xref: MESH:C536055 {source="MONDO:equivalentTo"} xref: OMIM:600329 {source="Orphanet:85179", source="MONDO:equivalentTo", source="Orphanet:85179/e"} xref: Orphanet:85179 {source="MONDO:equivalentTo", source="OMIM:600329"} @@ -229422,6 +231157,7 @@ synonym: "uterus corpus adenomyosis" EXACT [NCIT:C6996] xref: DOID:288 {source="MONDO:equivalentTo"} xref: EFO:1001757 {source="MONDO:equivalentTo"} xref: ICD10CM:N80.0 {source="MONDO:equivalentTo", source="DOID:288"} +xref: icd11.foundation:171294592 {source="MONDO:equivalentTo"} xref: ICD9:617.0 {source="DOID:288"} xref: MESH:D062788 {source="MONDO:equivalentTo", source="DOID:288"} xref: NCIT:C6996 {source="MONDO:equivalentTo", source="DOID:288"} @@ -229477,6 +231213,7 @@ synonym: "cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome" E xref: DOID:0070419 {source="MONDO:equivalentTo"} xref: GARD:1167 {source="Orphanet:2008"} xref: ICD10CM:Q87.8 {source="Orphanet:2008", source="Orphanet:2008/attributed", source="Orphanet:2008/ntbt"} +xref: icd11.foundation:976844546 {source="MONDO:equivalentTo"} xref: MESH:C563936 {source="MONDO:equivalentTo"} xref: OMIM:600460 {source="MONDO:equivalentTo", source="Orphanet:2008", source="Orphanet:2008/e"} xref: Orphanet:2008 {source="MONDO:equivalentTo", source="OMIM:600460"} @@ -229666,6 +231403,7 @@ synonym: "partial epilepsy with auditory aura" EXACT [Orphanet:101046] synonym: "partial epilepsy with auditory features" EXACT [DOID:0060748, Orphanet:101046] xref: DOID:0060748 {source="MONDO:equivalentTo"} xref: GARD:2257 {source="Orphanet:101046"} +xref: icd11.foundation:832717248 {source="MONDO:equivalentTo"} xref: MESH:C537297 {source="MONDO:equivalentTo"} xref: NCIT:C141441 xref: Orphanet:101046 {source="MONDO:equivalentTo", source="OMIM:600512", source="DOID:0060748"} @@ -229754,6 +231492,7 @@ subset: rare synonym: "spondyloepiphyseal dysplasia with atlantoaxial instability" RELATED [OMIM:600561] xref: GARD:16994 {source="Orphanet:163662"} xref: ICD10CM:Q77.7 {source="Orphanet:163662", source="Orphanet:163662/attributed", source="Orphanet:163662/ntbt"} +xref: icd11.foundation:1019322569 {source="MONDO:equivalentTo"} xref: MESH:C563472 {source="MONDO:equivalentTo"} xref: OMIM:600561 {source="MONDO:equivalentTo", source="Orphanet:163662", source="Orphanet:163662/e"} xref: Orphanet:163662 {source="OMIM:600561", source="MONDO:equivalentTo"} @@ -229871,6 +231610,7 @@ synonym: "loose anagen hair syndrome" RELATED [OMIM:600628] xref: DOID:0111702 {source="MONDO:equivalentTo"} xref: GARD:3287 {source="Orphanet:168"} xref: ICD10CM:L65.1 {source="Orphanet:168/attributed", source="Orphanet:168/ntbt", source="Orphanet:168"} +xref: icd11.foundation:547259783 {source="MONDO:equivalentTo"} xref: ICD9:704.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D058247 {source="Orphanet:168/e", source="MONDO:equivalentTo", source="Orphanet:168"} xref: OMIM:600628 {source="Orphanet:168/e", source="MONDO:equivalentTo", source="Orphanet:168"} @@ -230024,6 +231764,7 @@ xref: DOID:0050876 {source="MONDO:equivalentTo"} xref: EFO:1001286 {source="MONDO:equivalentTo"} xref: GARD:6002 {source="Orphanet:53035"} xref: ICD10CM:Q44.6 {source="Orphanet:53035", source="Orphanet:53035/attributed", source="Orphanet:53035/ntbt"} +xref: icd11.foundation:1757434239 {source="MONDO:equivalentTo"} xref: MedDRA:10013003 {source="Orphanet:53035", source="Orphanet:53035/e"} xref: MESH:C531647 {source="Orphanet:53035", source="Orphanet:53035/e"} xref: MESH:D016767 {source="Orphanet:53035", source="DOID:0050876", source="MONDO:equivalentTo", source="Orphanet:53035/e"} @@ -230197,6 +231938,7 @@ synonym: "microtia-anotia" EXACT [OMIM:600674] synonym: "microtias, congenital" EXACT [MESH:D065817] xref: GARD:431 {source="Orphanet:83463"} xref: ICD10CM:Q17.2 {source="Orphanet:83463", source="MONDO:equivalentTo", source="Orphanet:83463/e", source="Orphanet:83463/specific"} +xref: icd11.foundation:2005415414 {source="MONDO:equivalentTo"} xref: icd11.foundation:2005415414 {source="Orphanet:83463", source="MONDO:equivalentTo"} xref: ICD9:744.23 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10027555 {source="Orphanet:83463", source="Orphanet:83463/e"} @@ -230297,6 +232039,7 @@ synonym: "D2HGA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600721] xref: DOID:0050575 {source="MONDO:equivalentTo"} xref: GARD:5661 {source="Orphanet:79315"} xref: ICD10CM:E72.8 {source="Orphanet:79315", source="Orphanet:79315/attributed", source="Orphanet:79315/ntbt"} +xref: icd11.foundation:1170122566 {source="MONDO:equivalentTo"} xref: OMIMPS:600721 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:79315 {source="MONDO:equivalentTo", source="OMIM:600721"} xref: SCTID:237960000 {source="MONDO:equivalentTo"} @@ -230483,6 +232226,7 @@ synonym: "Crapb" RELATED [OMIM:600790] synonym: "PBCRA" EXACT ABBREVIATION [Orphanet:75373] synonym: "progressive bifocal chorioretinal atrophy" EXACT [OMIM:600790] xref: GARD:10123 {source="Orphanet:75373"} +xref: icd11.foundation:1936121929 {source="MONDO:equivalentTo"} xref: MESH:C535356 {source="Orphanet:75373/e", source="MONDO:equivalentTo", source="Orphanet:75373"} xref: OMIM:600790 {source="Orphanet:75373/e", source="MONDO:equivalentTo", source="Orphanet:75373"} xref: Orphanet:75373 {source="MONDO:equivalentTo", source="OMIM:600790"} @@ -230625,6 +232369,7 @@ synonym: "gallbladder disease type 1" EXACT [MONDORULE:1, OMIM:600803] synonym: "GBD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600803] synonym: "LPAC" EXACT ABBREVIATION [Orphanet:69663] xref: GARD:16683 {source="Orphanet:69663"} +xref: icd11.foundation:1261516421 {source="MONDO:equivalentTo"} xref: MedDRA:10068936 {source="Orphanet:69663/e", source="Orphanet:69663"} xref: OMIM:600803 {source="Orphanet:69663/e", source="MONDO:equivalentTo", source="Orphanet:69663"} xref: Orphanet:69663 {source="MONDO:equivalentTo", source="OMIM:600803"} @@ -230775,6 +232520,7 @@ synonym: "membranous obstruction of the inferior vena cava" RELATED [GARD:000596 xref: GARD:5968 {source="Orphanet:131"} xref: ICD10CM:I82.0 {source="Orphanet:131/e", source="MONDO:equivalentTo", source="Orphanet:131"} xref: icd11.foundation:1300118676 {source="MONDO:equivalentTo", source="Orphanet:131"} +xref: icd11.foundation:1300118676 {source="MONDO:equivalentTo"} xref: ICD9:453.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10006537 {source="Orphanet:131/e", source="Orphanet:131"} xref: MESH:D006502 {source="Orphanet:131/e", source="MONDO:equivalentTo", source="Orphanet:131"} @@ -230847,6 +232593,7 @@ synonym: "RAB7A Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, xref: DOID:0110159 {source="MONDO:equivalentTo"} xref: GARD:9192 {source="Orphanet:99936"} xref: ICD10CM:G60.0 {source="DOID:0110159", source="Orphanet:99936", source="Orphanet:99936/attributed", source="Orphanet:99936/ntbt"} +xref: icd11.foundation:1425224652 {source="MONDO:equivalentTo"} xref: MESH:C537989 {source="MONDO:equivalentTo"} xref: OMIM:600882 {source="DOID:0110159", source="MONDO:equivalentTo", source="Orphanet:99936", source="Orphanet:99936/e"} xref: Orphanet:99936 {source="DOID:0110159", source="OMIM:600882", source="MONDO:equivalentTo"} @@ -231053,6 +232800,7 @@ synonym: "VDEGS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600920, Orphanet:2460] xref: DOID:0111699 {source="MONDO:equivalentTo"} xref: GARD:3382 {source="Orphanet:2460"} xref: ICD10CM:Q87.0 {source="Orphanet:2460/attributed", source="Orphanet:2460/ntbt", source="Orphanet:2460"} +xref: icd11.foundation:1740735985 {source="MONDO:equivalentTo"} xref: MESH:C535909 {source="MONDO:equivalentTo"} xref: OMIM:600920 {source="Orphanet:2460/e", source="MONDO:equivalentTo", source="Orphanet:2460"} xref: Orphanet:2460 {source="MONDO:equivalentTo", source="OMIM:600920"} @@ -231969,6 +233717,7 @@ synonym: "neuropathy, hereditary motor and sensory, type 1C" RELATED [OMIM:60109 xref: DOID:0110151 {source="MONDO:equivalentTo"} xref: GARD:1247 {source="Orphanet:101083"} xref: ICD10CM:G60.0 {source="DOID:0110151", source="Orphanet:101083", source="Orphanet:101083/attributed", source="Orphanet:101083/ntbt"} +xref: icd11.foundation:1224517226 {source="MONDO:equivalentTo"} xref: MESH:C537984 {source="Orphanet:101083/e", source="MONDO:equivalentTo", source="Orphanet:101083"} xref: OMIM:601098 {source="Orphanet:101083/e", source="MONDO:equivalentTo", source="DOID:0110151", source="Orphanet:101083"} xref: Orphanet:101083 {source="MONDO:equivalentTo", source="DOID:0110151", source="OMIM:601098"} @@ -232410,6 +234159,7 @@ synonym: "iron overload in Africa" EXACT [DOID:0111033, OMIM:601195] xref: DOID:0111033 {source="MONDO:equivalentTo"} xref: GARD:8495 {source="Orphanet:139507"} xref: ICD10CM:E83.1 {source="Orphanet:139507", source="DOID:0111033", source="Orphanet:139507/attributed", source="Orphanet:139507/ntbt"} +xref: icd11.foundation:869212237 {source="MONDO:equivalentTo"} xref: MESH:C537904 {source="MONDO:equivalentTo"} xref: NORD:740 {source="MONDO:NORD"} xref: OMIM:601195 {source="MONDO:equivalentTo", source="Orphanet:139507", source="DOID:0111033", source="Orphanet:139507/e"} @@ -232477,6 +234227,7 @@ xref: ICD10CM:C34.1 {source="Orphanet:64742", source="Orphanet:64742/btnt"} xref: ICD10CM:C34.2 {source="Orphanet:64742", source="Orphanet:64742/btnt"} xref: ICD10CM:C34.3 {source="Orphanet:64742", source="Orphanet:64742/btnt"} xref: ICD10CM:C34.9 {source="Orphanet:64742", source="Orphanet:64742/btnt"} +xref: icd11.foundation:1159496549 {source="MONDO:equivalentTo"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8973/3 {source="NCIT:C5669"} xref: MESH:C537516 {source="Orphanet:64742", source="MONDO:equivalentTo", source="DOID:4769", source="Orphanet:64742/e"} @@ -232572,6 +234323,7 @@ synonym: "wooly hair, palmoplantar keratoderma, and Cardiac abnormalities" RELAT xref: DOID:0080551 {source="MONDO:equivalentTo"} xref: GARD:9795 {source="Orphanet:34217"} xref: ICD10CM:Q87.8 {source="Orphanet:34217", source="Orphanet:34217/attributed", source="Orphanet:34217/ntbt"} +xref: icd11.foundation:633516876 {source="MONDO:equivalentTo"} xref: MESH:C538346 {source="Orphanet:34217", source="MONDO:equivalentTo", source="Orphanet:34217/e"} xref: OMIM:601214 {source="Orphanet:34217", source="MONDO:equivalentTo", source="Orphanet:34217/e"} xref: Orphanet:34217 {source="OMIM:601214", source="MONDO:equivalentTo"} @@ -232699,6 +234451,7 @@ xref: DECIPHER:34 {source="MONDO:equivalentTo"} xref: DOID:0111687 {source="MONDO:equivalentTo"} xref: GARD:9762 {source="Orphanet:52022"} xref: ICD10CM:Q93.5 {source="Orphanet:52022/attributed", source="Orphanet:52022/ntbt", source="Orphanet:52022"} +xref: icd11.foundation:1587521558 {source="MONDO:equivalentTo"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538356 {source="Orphanet:52022/e", source="MONDO:equivalentTo", source="Orphanet:52022"} xref: NCIT:C75456 {source="MONDO:equivalentTo"} @@ -232726,6 +234479,7 @@ synonym: "HMPS" EXACT ABBREVIATION [Orphanet:157794] xref: DOID:0111684 {source="MONDO:equivalentTo"} xref: GARD:16981 {source="Orphanet:157794"} xref: ICD10CM:D12.6 {source="Orphanet:157794", source="Orphanet:157794/attributed", source="Orphanet:157794/ntbt"} +xref: icd11.foundation:219068911 {source="MONDO:equivalentTo"} xref: MESH:C563365 {source="MONDO:equivalentTo"} xref: OMIMPS:601228 {source="MONDO:equivalentTo"} xref: Orphanet:157794 {source="MONDO:equivalentTo"} @@ -233006,6 +234760,7 @@ synonym: "Noonan-neurofibromatosis syndrome" RELATED [OMIM:601321] xref: DOID:0111683 {source="MONDO:equivalentTo"} xref: GARD:372 {source="Orphanet:638"} xref: ICD10CM:Q87.1 {source="Orphanet:638", source="Orphanet:638/attributed", source="Orphanet:638/ntbt"} +xref: icd11.foundation:679913930 {source="MONDO:equivalentTo"} xref: MESH:C537393 {source="MONDO:equivalentTo", source="Orphanet:638", source="Orphanet:638/e"} xref: MESH:D009456 {source="Orphanet:638", source="Orphanet:638/e", source="MONDO:directSiblingOf"} xref: OMIM:601321 {source="MONDO:equivalentTo", source="Orphanet:638", source="Orphanet:638/e"} @@ -233122,6 +234877,7 @@ synonym: "ectodermal dysplasia with natal teeth Turnpenny type" RELATED [GARD:00 synonym: "ectodermal dysplasia with natal teeth, Turnpenny type" EXACT [OMIM:601345] synonym: "ectodermal dysplasia, hair/Tooth type" RELATED [OMIM:601345] xref: GARD:10526 {source="Orphanet:69083"} +xref: icd11.foundation:612149960 {source="MONDO:equivalentTo"} xref: MESH:C563347 {source="MONDO:equivalentTo"} xref: OMIM:601345 {source="Orphanet:69083", source="MONDO:equivalentTo", source="Orphanet:69083/e"} xref: Orphanet:69083 {source="OMIM:601345", source="MONDO:equivalentTo"} @@ -233209,6 +234965,7 @@ synonym: "Mievis-Verellen-Dumoulin syndrome" EXACT [Orphanet:2867] synonym: "short stature syndrome, Brussels type" RELATED [OMIM:601350] xref: GARD:4838 {source="Orphanet:2867"} xref: ICD10CM:Q87.1 {source="Orphanet:2867", source="Orphanet:2867/attributed", source="Orphanet:2867/ntbt"} +xref: icd11.foundation:251068104 {source="MONDO:equivalentTo"} xref: MESH:C537121 {source="MONDO:equivalentTo", source="Orphanet:2867", source="Orphanet:2867/e"} xref: OMIM:601350 {source="MONDO:equivalentTo", source="Orphanet:2867", source="Orphanet:2867/e"} xref: Orphanet:2867 {source="MONDO:equivalentTo", source="OMIM:601350"} @@ -233637,6 +235394,7 @@ synonym: "Christianson-Fourie syndrome" EXACT [Orphanet:1808] synonym: "ectodermal dysplasia, hidrotic, Christianson-Fourie type" RELATED [OMIM:601375] xref: GARD:2682 {source="Orphanet:1808"} xref: ICD10CM:Q82.8 {source="Orphanet:1808", source="Orphanet:1808/attributed", source="Orphanet:1808/ntbt"} +xref: icd11.foundation:661397711 {source="MONDO:equivalentTo"} xref: MESH:C536180 {source="Orphanet:1808", source="MONDO:equivalentTo", source="Orphanet:1808/e"} xref: OMIM:601375 {source="Orphanet:1808", source="MONDO:equivalentTo", source="Orphanet:1808/e"} xref: Orphanet:1808 {source="OMIM:601375", source="MONDO:equivalentTo"} @@ -233679,6 +235437,7 @@ synonym: "Hunter-McAlpine craniosynostosis syndrome" RELATED [OMIM:601379] synonym: "Hunter-McAlpine syndrome" RELATED [GARD:0002754] xref: GARD:2754 {source="Orphanet:97340"} xref: ICD10CM:Q87.0 {source="Orphanet:97340/attributed", source="Orphanet:97340/ntbt", source="Orphanet:97340"} +xref: icd11.foundation:1445975694 {source="MONDO:equivalentTo"} xref: MESH:C536072 {source="Orphanet:97340/e", source="MONDO:equivalentTo", source="Orphanet:97340"} xref: OMIM:601379 {source="Orphanet:97340/e", source="MONDO:equivalentTo", source="Orphanet:97340"} xref: Orphanet:97340 {source="OMIM:601379", source="MONDO:equivalentTo"} @@ -233713,6 +235472,7 @@ synonym: "MTMR2 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, xref: DOID:0110191 {source="MONDO:equivalentTo"} xref: GARD:1253 {source="Orphanet:99955"} xref: ICD10CM:G60.0 {source="Orphanet:99955/attributed", source="Orphanet:99955/ntbt", source="Orphanet:99955", source="DOID:0110191"} +xref: icd11.foundation:776238355 {source="MONDO:equivalentTo"} xref: MESH:C535420 {source="Orphanet:99955", source="MONDO:equivalentTo", source="Orphanet:99955/e"} xref: OMIM:601382 {source="Orphanet:99955", source="DOID:0110191", source="MONDO:equivalentTo", source="Orphanet:99955/e"} xref: Orphanet:99955 {source="DOID:0110191", source="MONDO:equivalentTo", source="OMIM:601382"} @@ -234038,6 +235798,7 @@ synonym: "rhizomelic dysplasia Patterson Lowry type" RELATED [GARD:0004703] synonym: "rhizomelic dysplasia, Patterson-Lowry type" EXACT [OMIM:601438] xref: GARD:4703 {source="Orphanet:2831"} xref: ICD10CM:Q78.8 {source="Orphanet:2831", source="Orphanet:2831/attributed", source="Orphanet:2831/ntbt"} +xref: icd11.foundation:1681747199 {source="MONDO:equivalentTo"} xref: MESH:C537609 {source="MONDO:equivalentTo", source="Orphanet:2831", source="Orphanet:2831/e"} xref: OMIM:601438 {source="MONDO:equivalentTo", source="Orphanet:2831", source="Orphanet:2831/e"} xref: Orphanet:2831 {source="MONDO:equivalentTo", source="OMIM:601438"} @@ -234065,6 +235826,7 @@ synonym: "Thies-Reis syndrome" EXACT [Orphanet:3235] xref: GARD:5170 {source="Orphanet:3235"} xref: ICD10CM:H74.3 {source="Orphanet:3235", source="Orphanet:3235/attributed", source="Orphanet:3235/ntbt"} xref: icd11.foundation:1909954882 {source="Orphanet:3235", source="MONDO:equivalentTo"} +xref: icd11.foundation:1909954882 {source="MONDO:equivalentTo"} xref: MESH:C563316 {source="MONDO:equivalentTo"} xref: OMIM:601449 {source="Orphanet:3235", source="MONDO:equivalentTo", source="Orphanet:3235/e"} xref: Orphanet:3235 {source="MONDO:equivalentTo", source="OMIM:601449"} @@ -234134,6 +235896,7 @@ synonym: "Tricho-dental dysplasia" RELATED [GARD:0000265] synonym: "Tricho-dental syndrome" RELATED [GARD:0000265] synonym: "TRICHODENTAL dysplasia" RELATED [OMIM:601453] xref: GARD:265 {source="Orphanet:3351"} +xref: icd11.foundation:944650339 {source="MONDO:equivalentTo"} xref: MESH:C536551 {source="Orphanet:3351/e", source="MONDO:equivalentTo", source="Orphanet:3351"} xref: OMIM:601453 {source="Orphanet:3351/e", source="MONDO:equivalentTo", source="Orphanet:3351"} xref: Orphanet:3351 {source="OMIM:601453", source="MONDO:equivalentTo"} @@ -234187,6 +235950,7 @@ synonym: "NMSL" RELATED ABBREVIATION [GARD:0003973] xref: DOID:0110186 {source="MONDO:equivalentTo"} xref: GARD:3973 {source="Orphanet:99950"} xref: ICD10CM:G60.0 {source="Orphanet:99950", source="Orphanet:99950/attributed", source="Orphanet:99950/ntbt", source="DOID:0110186"} +xref: icd11.foundation:616686295 {source="MONDO:equivalentTo"} xref: MESH:C535716 {source="Orphanet:99950", source="MONDO:equivalentTo", source="Orphanet:99950/e"} xref: OMIM:601455 {source="Orphanet:99950", source="MONDO:equivalentTo", source="Orphanet:99950/e", source="DOID:0110186"} xref: Orphanet:99950 {source="OMIM:601455", source="MONDO:equivalentTo", source="DOID:0110186"} @@ -234348,6 +236112,7 @@ synonym: "GARS Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, xref: DOID:0110164 {source="MONDO:equivalentTo"} xref: GARD:1251 {source="Orphanet:99938"} xref: ICD10CM:G60.0 {source="Orphanet:99938/attributed", source="Orphanet:99938/ntbt", source="DOID:0110164", source="Orphanet:99938"} +xref: icd11.foundation:1617529678 {source="MONDO:equivalentTo"} xref: MESH:C537993 {source="MONDO:equivalentTo"} xref: NCIT:C122659 {source="MONDO:equivalentTo"} xref: OMIM:601472 {source="Orphanet:99938/e", source="MONDO:equivalentTo", source="DOID:0110164", source="Orphanet:99938"} @@ -234398,6 +236163,7 @@ synonym: "mucopolysaccharidosis, type IX" RELATED [MONDO:Lexical, OMIM:601492] xref: DOID:0050809 {source="MONDO:equivalentTo"} xref: GARD:16675 {source="Orphanet:67041"} xref: ICD10CM:E76.2 {source="Orphanet:67041", source="Orphanet:67041/attributed", source="Orphanet:67041/ntbt"} +xref: icd11.foundation:952591271 {source="MONDO:equivalentTo"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563209 {source="MONDO:equivalentTo"} xref: NCIT:C129073 {source="MONDO:equivalentTo"} @@ -234893,6 +236659,7 @@ synonym: "SH3TC2 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern xref: DOID:0110183 {source="MONDO:equivalentTo"} xref: GARD:9201 {source="Orphanet:99949"} xref: ICD10CM:G60.0 {source="DOID:0110183", source="Orphanet:99949/attributed", source="Orphanet:99949/ntbt", source="Orphanet:99949"} +xref: icd11.foundation:382219984 {source="MONDO:equivalentTo"} xref: MESH:C535423 {source="Orphanet:99949/e", source="MONDO:equivalentTo", source="Orphanet:99949"} xref: NCIT:C129864 {source="MONDO:equivalentTo"} xref: OMIM:601596 {source="Orphanet:99949/e", source="DOID:0110183", source="MONDO:equivalentTo", source="Orphanet:99949"} @@ -235016,6 +236783,7 @@ subset: rare synonym: "IRID" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165] xref: DOID:0050786 {source="https://github.com/monarch-initiative/mondo/issues/203", source="MONDO:equivalentTo"} xref: GARD:16484 {source="Orphanet:98634"} +xref: icd11.foundation:2030725523 {source="MONDO:equivalentTo"} xref: Orphanet:98634 {source="MONDO:equivalentTo"} is_a: MONDO:0019503 {source="https://orcid.org/0000-0002-6601-2165"} ! anterior segment dysgenesis @@ -235206,6 +236974,7 @@ synonym: "Sheldon-Hall syndrome" EXACT [DOID:0111599, OMIM:601680] xref: DOID:0111599 {source="MONDO:equivalentTo"} xref: GARD:16556 {source="Orphanet:1147"} xref: ICD10CM:Q68.8 {source="Orphanet:1147/attributed", source="Orphanet:1147/ntbt", source="Orphanet:1147"} +xref: icd11.foundation:1206883656 {source="MONDO:equivalentTo"} xref: MESH:C538400 {source="DOID:0111599"} xref: Orphanet:1147 {source="MONDO:equivalentTo", source="DOID:0111599", source="OMIM:601680"} xref: SCTID:715216008 {source="DOID:0111599"} @@ -235252,6 +237021,7 @@ synonym: "ectodermal dysplasia - cataracts - kyphoscoliosis" RELATED [GARD:00015 synonym: "ectodermal dysplasia-cataracts-kyphoscoliosis syndrome" EXACT [Orphanet:3354] synonym: "Todv syndrome" RELATED [OMIM:601701] synonym: "Trichooculodermovertebral syndrome" RELATED [OMIM:601701] +xref: icd11.foundation:1206025469 {source="MONDO:equivalentTo"} xref: MESH:C537441 {source="MONDO:equivalentTo"} xref: OMIM:601701 {source="Orphanet:3354", source="MONDO:equivalentTo", source="Orphanet:3354/e"} xref: Orphanet:3354 {source="MONDO:equivalentObsolete", source="OMIM:601701"} @@ -235303,6 +237073,7 @@ synonym: "Warburg-Thomsen syndrome" EXACT [Orphanet:3214] synonym: "Yemenite (Warburg) deaf-blind hypopigmentation syndrome" RELATED [GARD:0005535] synonym: "Yemenite deaf-blind hypopigmentation syndrome" EXACT [OMIM:601706, Orphanet:3214] xref: GARD:5535 {source="Orphanet:3214"} +xref: icd11.foundation:2090985024 {source="MONDO:equivalentTo"} xref: MESH:C536771 {source="Orphanet:3214", source="MONDO:equivalentTo", source="Orphanet:3214/e"} xref: OMIM:601706 {source="Orphanet:3214", source="MONDO:equivalentTo", source="Orphanet:3214/e"} xref: Orphanet:3214 {source="MONDO:equivalentTo", source="OMIM:601706"} @@ -235370,6 +237141,7 @@ synonym: "Quebec platelet disorder" EXACT [MONDO:Lexical, OMIM:601709] xref: DOID:0111050 {source="MONDO:equivalentTo"} xref: GARD:8345 {source="Orphanet:220436"} xref: ICD10CM:D69.1 {source="DOID:0111050", source="Orphanet:220436", source="Orphanet:220436/attributed", source="Orphanet:220436/ntbt"} +xref: icd11.foundation:1618741944 {source="MONDO:equivalentTo"} xref: MESH:C536260 {source="DOID:0111050", source="MONDO:equivalentTo", source="Orphanet:220436", source="Orphanet:220436/e"} xref: OMIM:601709 {source="DOID:0111050", source="MONDO:equivalentTo", source="Orphanet:220436", source="Orphanet:220436/e"} xref: Orphanet:220436 {source="OMIM:601709", source="DOID:0111050", source="MONDO:equivalentTo"} @@ -235866,6 +237638,7 @@ synonym: "Palagonia type of acrofacial dysostosis" EXACT [MESH:C538185] xref: DOID:0060385 {source="MONDO:equivalentTo"} xref: GARD:499 {source="Orphanet:1787"} xref: ICD10CM:Q75.4 {source="Orphanet:1787", source="Orphanet:1787/attributed", source="Orphanet:1787/ntbt"} +xref: icd11.foundation:656294814 {source="MONDO:equivalentTo"} xref: MESH:C538185 {source="DOID:0060385", source="MONDO:equivalentTo", source="Orphanet:1787", source="Orphanet:1787/e"} xref: OMIM:601829 {source="DOID:0060385", source="MONDO:equivalentTo", source="Orphanet:1787", source="Orphanet:1787/e"} xref: Orphanet:1787 {source="DOID:0060385", source="MONDO:equivalentTo", source="OMIM:601829"} @@ -235906,6 +237679,7 @@ synonym: "severe ABCB11 deficiency" RELATED [GARD:0001288] xref: DOID:0070222 {source="MONDO:equivalentTo"} xref: GARD:1288 {source="Orphanet:79304"} xref: ICD10CM:K76.8 {source="Orphanet:79304", source="Orphanet:79304/attributed", source="Orphanet:79304/ntbt"} +xref: icd11.foundation:1168921980 {source="MONDO:equivalentTo"} xref: MESH:C535934 {source="Orphanet:79304", source="Orphanet:79304/e"} xref: OMIM:601847 {source="Orphanet:79304", source="MONDO:equivalentTo", source="Orphanet:79304/e"} xref: Orphanet:172 {source="OMIM:601847"} @@ -236321,6 +238095,7 @@ synonym: "ODONTOTRICHOUNGUAL-digital-palmar syndrome" RELATED [OMIM:601957] synonym: "OTUDP syndrome" EXACT [Orphanet:69082] synonym: "Otudp syndrome" RELATED [OMIM:601957] xref: GARD:16679 {source="Orphanet:69082"} +xref: icd11.foundation:386386782 {source="MONDO:equivalentTo"} xref: MESH:C566598 {source="MONDO:equivalentTo"} xref: OMIM:601957 {source="Orphanet:69082", source="MONDO:equivalentTo", source="Orphanet:69082/e"} xref: Orphanet:69082 {source="MONDO:equivalentTo", source="OMIM:601957"} @@ -236551,6 +238326,7 @@ synonym: "trimethylaminuria" EXACT CLINGEN_LABEL [MONDO:ambiguous, MONDO:Lexical synonym: "trimethylaminuria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0080361 xref: HP:0003614 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:685690588 {source="MONDO:equivalentTo"} xref: MESH:C536561 xref: Orphanet:35056 {source="OMIM:602079", source="MONDO:equivalentObsolete"} xref: SCTID:237959005 {source="MONDO:equivalentTo"} @@ -236601,6 +238377,7 @@ synonym: "speech-language disorder type 1" EXACT [MONDORULE:1, OMIM:602081, Orph synonym: "speech-language disorder-1" RELATED [GARD:0012889] xref: DOID:0111275 {source="MONDO:equivalentTo"} xref: GARD:12889 {source="Orphanet:209908"} +xref: icd11.foundation:1590154825 {source="MONDO:equivalentTo"} xref: ICD9:315.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:602081 {source="MONDO:equivalentTo", source="Orphanet:209908", source="Orphanet:209908/e"} xref: Orphanet:209908 {source="MONDO:equivalentTo", source="OMIM:602081"} @@ -236641,6 +238418,7 @@ synonym: "Waardenburg-Jonker corneal dystrophy" EXACT [DOID:0060455, Orphanet:98 xref: DOID:0060455 {source="MONDO:equivalentTo"} xref: GARD:9275 {source="Orphanet:98960"} xref: ICD10CM:H18.5 {source="Orphanet:98960", source="Orphanet:98960/attributed", source="Orphanet:98960/ntbt"} +xref: icd11.foundation:2082568100 {source="MONDO:equivalentTo"} xref: ICD9:371.52 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535942 {source="Orphanet:98960", source="DOID:0060455", source="MONDO:equivalentTo", source="Orphanet:98960/e"} xref: OMIM:602082 {source="Orphanet:98960", source="DOID:0060455", source="MONDO:equivalentTo", source="Orphanet:98960/e", source="GARD:0009275"} @@ -236939,6 +238717,7 @@ subset: rare synonym: "neuropathy, hereditary thermosensitive" RELATED [OMIM:602107] xref: GARD:16731 {source="Orphanet:84093"} xref: ICD10CM:G60.0 {source="Orphanet:84093/attributed", source="Orphanet:84093/ntbt", source="Orphanet:84093"} +xref: icd11.foundation:1124144144 {source="MONDO:equivalentTo"} xref: MESH:C566575 {source="MONDO:equivalentTo"} xref: OMIM:602107 {source="Orphanet:84093/e", source="MONDO:equivalentTo", source="Orphanet:84093"} xref: Orphanet:84093 {source="MONDO:equivalentTo", source="OMIM:602107"} @@ -236969,6 +238748,7 @@ synonym: "spondyloepimetaphyseal dysplasia, Missouri type" EXACT [OMIM:602111] xref: DOID:0080030 {source="MONDO:equivalentTo"} xref: GARD:10618 {source="Orphanet:93356"} xref: ICD10CM:Q77.7 {source="Orphanet:93356", source="Orphanet:93356/attributed", source="Orphanet:93356/ntbt"} +xref: icd11.foundation:1593289281 {source="MONDO:equivalentTo"} xref: OMIM:602111 {source="DOID:0080030", source="MONDO:equivalentTo", source="Orphanet:93356", source="Orphanet:93356/e"} xref: Orphanet:1040 {source="OMIM:602111"} xref: Orphanet:93356 {source="OMIM:602111", source="MONDO:equivalentTo"} @@ -237161,6 +238941,7 @@ synonym: "papulosis atrophican maligna" EXACT [Orphanet:679] synonym: "papulosis, malignant atrophic" RELATED [OMIM:602248] xref: GARD:6249 {source="Orphanet:679"} xref: ICD10CM:I77.8 {source="Orphanet:679/ntbt", source="Orphanet:679", source="Orphanet:679/index"} +xref: icd11.foundation:792094526 {source="MONDO:equivalentTo"} xref: ICD9:447.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10064281 {source="Orphanet:679", source="Orphanet:679/e"} xref: MESH:D054853 {source="Orphanet:679", source="MONDO:equivalentTo", source="Orphanet:679/e"} @@ -237209,6 +238990,7 @@ synonym: "spondylometaphyseal dysplasia, axial" RELATED [OMIM:602271] xref: DOID:0112299 {source="MONDO:equivalentTo"} xref: GARD:8720 {source="Orphanet:168549"} xref: ICD10CM:Q77.8 {source="Orphanet:168549", source="Orphanet:168549/attributed", source="Orphanet:168549/ntbt"} +xref: icd11.foundation:834893572 {source="MONDO:equivalentTo"} xref: MESH:C535795 {source="MONDO:equivalentTo", source="Orphanet:168549", source="Orphanet:168549/e"} xref: OMIM:602271 {source="MONDO:equivalentTo", source="Orphanet:168549", source="Orphanet:168549/e"} xref: Orphanet:168549 {source="MONDO:equivalentTo", source="OMIM:602271"} @@ -237281,6 +239063,7 @@ synonym: "progressive familial intrahepatic cholestasis with elevated serum gamm xref: DOID:0070223 {source="MONDO:equivalentTo"} xref: GARD:1289 {source="Orphanet:79305"} xref: ICD10CM:K76.8 {source="Orphanet:79305/attributed", source="Orphanet:79305/ntbt", source="Orphanet:79305"} +xref: icd11.foundation:1276600959 {source="MONDO:equivalentTo"} xref: MESH:C535935 {source="Orphanet:79305", source="MONDO:equivalentTo", source="Orphanet:79305/e"} xref: NORD:1416 {source="MONDO:NORD"} xref: OMIM:602347 {source="Orphanet:79305", source="MONDO:equivalentTo", source="Orphanet:79305/e"} @@ -237312,6 +239095,7 @@ synonym: "skeletal dysplasia lethal with gracile bones" RELATED [GARD:0003396] synonym: "skeletal dysplasia, lethal, with gracile bones" RELATED [OMIM:602361] xref: GARD:3396 {source="Orphanet:2763"} xref: ICD10CM:Q78.0 {source="Orphanet:2763/attributed", source="Orphanet:2763/ntbt", source="MONDO:relatedTo", source="Orphanet:2763"} +xref: icd11.foundation:539409723 {source="MONDO:equivalentTo"} xref: MESH:C537291 {source="MONDO:equivalentTo"} xref: OMIM:602361 {source="Orphanet:2763", source="MONDO:equivalentTo", source="Orphanet:2763/e"} xref: Orphanet:2763 {source="MONDO:equivalentTo", source="OMIM:602361"} @@ -237357,6 +239141,7 @@ subset: rare synonym: "desmosterolosis" EXACT [OMIM:602398] xref: GARD:10283 {source="Orphanet:35107"} xref: ICD10CM:Q87.8 {source="Orphanet:35107/attributed", source="Orphanet:35107/ntbt", source="Orphanet:35107"} +xref: icd11.foundation:2108931494 {source="MONDO:equivalentTo"} xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C566555 {source="MONDO:equivalentTo"} xref: OMIM:602398 {source="Orphanet:35107", source="MONDO:equivalentTo", source="Orphanet:35107/e"} @@ -237525,6 +239310,7 @@ synonym: "spinal muscular atrophy, juvenile, nonprogressive" RELATED [OMIM:60244 xref: EFO:1001989 {source="MONDO:equivalentTo"} xref: GARD:9697 {source="Orphanet:65684"} xref: ICD10CM:G12.8 {source="Orphanet:65684/ntbt", source="Orphanet:65684"} +xref: icd11.foundation:2090347823 {source="MONDO:equivalentTo"} xref: icd11.foundation:2090347823 {source="MONDO:equivalentTo", source="Orphanet:65684"} xref: MedDRA:10069681 {source="Orphanet:65684/e", source="Orphanet:65684"} xref: MESH:C538253 {source="Orphanet:65684/e", source="MONDO:equivalentTo", source="Orphanet:65684"} @@ -237667,6 +239453,7 @@ synonym: "syndrome of encephalopathy, petechiae, and ethylmalonic aciduria" RELA xref: DOID:0060640 {source="MONDO:equivalentTo"} xref: GARD:2198 {source="Orphanet:51188"} xref: ICD10CM:G31.8 {source="Orphanet:51188", source="DOID:0060640", source="Orphanet:51188/attributed", source="Orphanet:51188/ntbt"} +xref: icd11.foundation:1966714550 {source="MONDO:equivalentTo"} xref: MESH:C535737 {source="Orphanet:51188", source="DOID:0060640", source="MONDO:equivalentTo", source="Orphanet:51188/e"} xref: OMIM:602473 {source="Orphanet:51188", source="DOID:0060640", source="MONDO:equivalentTo", source="Orphanet:51188/e"} xref: Orphanet:51188 {source="DOID:0060640", source="MONDO:equivalentTo", source="OMIM:602473"} @@ -238027,6 +239814,7 @@ synonym: "GRNG" RELATED ABBREVIATION [OMIM:602531] synonym: "progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome" EXACT [Orphanet:79094] xref: GARD:16697 {source="Orphanet:79094"} xref: ICD10CM:Q87.8 {source="Orphanet:79094/attributed", source="Orphanet:79094/ntbt", source="Orphanet:79094"} +xref: icd11.foundation:729368905 {source="MONDO:equivalentTo"} xref: MESH:C566529 {source="MONDO:equivalentTo"} xref: OMIM:602531 {source="Orphanet:79094", source="MONDO:equivalentTo", source="Orphanet:79094/e"} xref: Orphanet:79094 {source="OMIM:602531", source="MONDO:equivalentTo"} @@ -238052,6 +239840,7 @@ synonym: "MRSHSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602535] xref: DOID:0050858 {source="MONDO:equivalentTo"} xref: GARD:6985 {source="Orphanet:561"} xref: ICD10CM:Q87.3 {source="Orphanet:561/attributed", source="Orphanet:561/ntbt", source="Orphanet:561"} +xref: icd11.foundation:417951600 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536026 {source="Orphanet:561/e", source="MONDO:equivalentTo", source="Orphanet:561"} xref: OMIM:602535 {source="Orphanet:561/e", source="MONDO:equivalentTo", source="DOID:0050858", source="Orphanet:561"} @@ -238211,6 +240000,7 @@ synonym: "spondyloepimetaphyseal dysplasia Shohat type" RELATED [GARD:0004980] synonym: "spondyloepimetaphyseal dysplasia, Shohat type" EXACT [OMIM:602557] xref: GARD:4980 {source="Orphanet:93352"} xref: ICD10CM:Q77.7 {source="Orphanet:93352/attributed", source="Orphanet:93352/ntbt", source="Orphanet:93352"} +xref: icd11.foundation:1389783101 {source="MONDO:equivalentTo"} xref: MESH:C566523 {source="MONDO:equivalentTo"} xref: OMIM:602557 {source="Orphanet:93352", source="MONDO:equivalentTo", source="Orphanet:93352/e"} xref: Orphanet:93352 {source="MONDO:equivalentTo", source="OMIM:602557"} @@ -238234,6 +240024,7 @@ subset: rare synonym: "craniomicromelic syndrome" EXACT [OMIM:602558] xref: GARD:1583 {source="Orphanet:1524"} xref: ICD10CM:Q87.0 {source="Orphanet:1524", source="Orphanet:1524/attributed", source="Orphanet:1524/ntbt"} +xref: icd11.foundation:1734157428 {source="MONDO:equivalentTo"} xref: MESH:C566522 {source="MONDO:equivalentTo"} xref: OMIM:602558 {source="MONDO:equivalentTo", source="Orphanet:1524", source="Orphanet:1524/e"} xref: Orphanet:1524 {source="MONDO:equivalentTo", source="OMIM:602558"} @@ -238539,6 +240330,7 @@ xref: DOID:0050759 {source="MONDO:equivalentTo"} xref: GARD:9728 {source="Orphanet:606"} xref: ICD10CM:G71.1 {source="Orphanet:606", source="DOID:0050759", source="Orphanet:606/attributed", source="Orphanet:606/ntbt"} xref: ICD10CM:G71.19 {source="DOID:0050759"} +xref: icd11.foundation:1005849639 {source="MONDO:equivalentTo"} xref: ICD9:359.2 {source="DOID:0050759"} xref: MESH:D020967 {source="Orphanet:606", source="DOID:0050759", source="Orphanet:606/e"} xref: NCIT:C122789 {source="MONDO:relatedTo", source="DOID:0050759"} @@ -238750,6 +240542,7 @@ synonym: "SLC29A3 spectrum disorder" RELATED [GARD:0010239] xref: DOID:0111278 {source="MONDO:equivalentTo"} xref: GARD:10239 {source="Orphanet:168569"} xref: ICD10CM:D76.3 {source="Orphanet:168569", source="Orphanet:168569/attributed", source="Orphanet:168569/ntbt"} +xref: icd11.foundation:107155297 {source="MONDO:equivalentTo"} xref: MESH:C535391 {source="MONDO:equivalentTo"} xref: MESH:C538322 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: OMIM:602782 {source="MONDO:equivalentTo", source="Orphanet:168569", source="Orphanet:168569/e"} @@ -238784,6 +240577,7 @@ synonym: "syndrome of coronal craniosynostosis" RELATED [GARD:0007097] xref: DOID:0060703 {source="MONDO:equivalentTo"} xref: GARD:7097 {source="Orphanet:53271"} xref: ICD10CM:Q87.0 {source="DOID:0060703", source="Orphanet:53271/attributed", source="Orphanet:53271/ntbt", source="Orphanet:53271"} +xref: icd11.foundation:1860572017 {source="MONDO:equivalentTo"} xref: MESH:C537369 {source="Orphanet:53271/e", source="MONDO:equivalentTo", source="DOID:0060703", source="Orphanet:53271"} xref: NCIT:C84904 {source="MONDO:equivalentTo"} xref: OMIM:602849 {source="Orphanet:53271/e", source="MONDO:equivalentTo", source="DOID:0060703", source="Orphanet:53271"} @@ -238980,6 +240774,7 @@ xref: EFO:0004222 {source="DOID:11782"} xref: HP:0000483 {source="MONDO:otherHierarchy", source="DOID:11782"} xref: ICD10CM:H52.2 {source="DOID:11782"} xref: ICD10CM:H52.20 {source="DOID:11782"} +xref: icd11.foundation:402558626 {source="MONDO:equivalentTo"} xref: ICD9:367.2 {source="DOID:11782"} xref: ICD9:367.20 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11782"} xref: MESH:D001251 {source="MONDO:equivalentTo", source="DOID:11782"} @@ -239325,6 +241120,7 @@ synonym: "pseudohypoparathyroidism, type IB" RELATED [MONDO:Lexical, OMIM:603233 xref: DOID:0080222 {source="MONDO:equivalentTo"} xref: GARD:10680 {source="Orphanet:94089"} xref: ICD10CM:E20.1 {source="Orphanet:94089/attributed", source="Orphanet:94089/ntbt", source="Orphanet:94089"} +xref: icd11.foundation:440485628 {source="MONDO:equivalentTo"} xref: MESH:C548075 {source="Orphanet:94089", source="MONDO:equivalentTo", source="Orphanet:94089/e"} xref: OMIM:603233 {source="Orphanet:94089", source="DOID:0080222", source="MONDO:equivalentTo", source="Orphanet:94089/e"} xref: Orphanet:94089 {source="OMIM:603233", source="MONDO:equivalentTo"} @@ -239507,6 +241303,7 @@ synonym: "hyperthyroidism, familial gestational" RELATED [OMIM:603373] xref: DOID:0081102 {source="MONDO:equivalentTo"} xref: GARD:16913 {source="Orphanet:99819"} xref: ICD10CM:E05.8 {source="Orphanet:99819/attributed", source="Orphanet:99819/ntbt", source="Orphanet:99819"} +xref: icd11.foundation:811229304 {source="MONDO:equivalentTo"} xref: ICD9:242.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:648.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C566384 {source="Orphanet:99819/e", source="MONDO:equivalentTo", source="Orphanet:99819"} @@ -239784,6 +241581,7 @@ synonym: "Niid" RELATED [OMIM:603472] xref: DOID:0081294 {source="MONDO:equivalentTo"} xref: GARD:3971 {source="Orphanet:2289"} xref: ICD10CM:G31.0 {source="Orphanet:2289", source="Orphanet:2289/attributed", source="Orphanet:2289/ntbt"} +xref: icd11.foundation:693937860 {source="MONDO:equivalentTo"} xref: MESH:C537395 {source="Orphanet:2289", source="MONDO:equivalentTo", source="Orphanet:2289/e"} xref: NCIT:C122655 {source="MONDO:equivalentTo"} xref: OMIM:603472 {source="Orphanet:2289", source="MONDO:equivalentTo", source="Orphanet:2289/e"} @@ -239826,6 +241624,7 @@ synonym: "spinocerebellar ataxia type 10" EXACT [MONDORULE:2, OMIM:603516] xref: DOID:0050960 {source="MONDO:equivalentTo"} xref: GARD:10474 {source="Orphanet:98761"} xref: ICD10CM:G11.2 {source="Orphanet:98761/attributed", source="Orphanet:98761/ntbt", source="Orphanet:98761"} +xref: icd11.foundation:157300879 {source="MONDO:equivalentTo"} xref: MESH:C566874 {source="MONDO:equivalentTo"} xref: OMIM:603516 {source="DOID:0050960", source="Orphanet:98761/e", source="MONDO:equivalentTo", source="Orphanet:98761"} xref: Orphanet:98761 {source="MONDO:equivalentTo", source="OMIM:603516"} @@ -239849,6 +241648,7 @@ synonym: "hydrothorax, congenital" RELATED [OMIM:603523] xref: DOID:0060646 {source="MONDO:equivalentTo"} xref: GARD:10156 {source="Orphanet:264688"} xref: ICD10CM:I89.8 {source="Orphanet:264688", source="Orphanet:264688/ntbt"} +xref: icd11.foundation:641475779 {source="MONDO:equivalentTo"} xref: ICD9:511.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535461 {source="MONDO:equivalentTo"} xref: OMIM:603523 {source="MONDO:equivalentTo", source="DOID:0060646", source="Orphanet:264688", source="Orphanet:264688/e"} @@ -239894,6 +241694,7 @@ synonym: "limb-mammary syndrome" EXACT [MONDO:Lexical, OMIM:603543] synonym: "LMS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603543, Orphanet:69085] synonym: "mammary hypoplasia, ectrodactyly, and other hand/foot anomalies" RELATED [GARD:0010051] xref: GARD:10051 {source="Orphanet:69085"} +xref: icd11.foundation:1958986288 {source="MONDO:equivalentTo"} xref: MESH:C535903 {source="MONDO:equivalentTo", source="Orphanet:69085", source="Orphanet:69085/e"} xref: OMIM:603543 {source="MONDO:equivalentTo", source="Orphanet:69085", source="Orphanet:69085/e"} xref: Orphanet:69085 {source="OMIM:603543", source="MONDO:equivalentTo"} @@ -241670,6 +243471,7 @@ synonym: "FENIB" EXACT ABBREVIATION [DOID:0050831, MONDO:Lexical, OMIM:604218, O xref: DOID:0050831 {source="MONDO:equivalentTo"} xref: GARD:10037 {source="Orphanet:85110"} xref: ICD10CM:G31.8 {source="Orphanet:85110/attributed", source="Orphanet:85110/ntbt", source="Orphanet:85110"} +xref: icd11.foundation:453919434 {source="MONDO:equivalentTo"} xref: ICD9:348.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536841 {source="Orphanet:85110/e", source="MONDO:equivalentTo", source="Orphanet:85110"} xref: NORD:1123 {source="MONDO:NORD"} @@ -241735,6 +243537,7 @@ xref: DOID:0080610 {source="MONDO:equivalentTo"} xref: GARD:7377 {source="Orphanet:708"} xref: HP:0000659 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q13.4 {source="DOID:0060673", source="Orphanet:708/inclusion", source="Orphanet:708", source="Orphanet:708/ntbt"} +xref: icd11.foundation:1902926622 {source="MONDO:equivalentTo"} xref: ICD9:743.44 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10059202 {source="Orphanet:708/e", source="Orphanet:708"} xref: MESH:C537884 {source="Orphanet:708/e", source="DOID:0060673", source="MONDO:equivalentTo", source="Orphanet:708"} @@ -241989,6 +243792,7 @@ synonym: "Carney triad" EXACT [OMIM:604287] synonym: "gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma" RELATED [OMIM:604287] xref: GARD:10924 {source="Orphanet:139411"} xref: ICD10CM:D44.8 {source="Orphanet:139411/attributed", source="Orphanet:139411/ntbt", source="Orphanet:139411"} +xref: icd11.foundation:1771169701 {source="MONDO:equivalentTo"} xref: MESH:C565803 {source="MONDO:equivalentTo"} xref: NCIT:C94833 {source="MONDO:equivalentTo"} xref: OMIM:604287 {source="Orphanet:139411/e", source="MONDO:equivalentTo", source="Orphanet:139411"} @@ -242141,6 +243945,7 @@ xref: ICD10CM:M08.40 {source="DOID:676"} xref: ICD10CM:M08.8 {source="Orphanet:92", source="Orphanet:92/btnt"} xref: ICD10CM:M08.9 {source="Orphanet:92", source="Orphanet:92/btnt"} xref: icd11.foundation:1322678686 {source="MONDO:equivalentTo", source="Orphanet:92"} +xref: icd11.foundation:1322678686 {source="MONDO:equivalentTo"} xref: ICD9:714.3 {source="DOID:676"} xref: ICD9:714.31 {source="DOID:676"} xref: ICD9:714.32 {source="DOID:676", source="MONDO:relatedTo"} @@ -242192,6 +243997,7 @@ synonym: "dusty cataract" EXACT [Orphanet:98984] synonym: "pulverulent cataract" EXACT [Orphanet:98984] xref: GARD:16884 {source="Orphanet:98984"} xref: ICD10CM:Q12.0 {source="Orphanet:98984/attributed", source="Orphanet:98984/ntbt", source="Orphanet:98984", source="DOID:0110235"} +xref: icd11.foundation:1046743385 {source="MONDO:equivalentTo"} xref: MESH:C565133 {source="MONDO:equivalentTo"} xref: Orphanet:91492 {source="OMIM:604307"} xref: Orphanet:98984 {source="MONDO:equivalentTo", source="OMIM:604307"} @@ -242373,6 +244179,7 @@ xref: HP:0001061 {source="MONDO:otherHierarchy"} xref: ICD10CM:L70 {source="DOID:6543"} xref: ICD10CM:L70.2 {source="DOID:6543"} xref: ICD10CM:L70.9 {source="DOID:6543"} +xref: icd11.foundation:1892393023 {source="MONDO:equivalentTo"} xref: ICD9:706.0 {source="DOID:6543"} xref: MESH:D000152 {source="EFO:0003894"} xref: MTH:217 {source="DOID:6543"} @@ -242408,6 +244215,7 @@ synonym: "spinocerebellar ataxia type 12" EXACT [MONDORULE:2, OMIM:604326] xref: DOID:0050962 {source="MONDO:equivalentTo"} xref: GARD:10476 {source="Orphanet:98762"} xref: ICD10CM:G11.2 {source="Orphanet:98762", source="Orphanet:98762/attributed", source="Orphanet:98762/ntbt"} +xref: icd11.foundation:1210063722 {source="MONDO:equivalentTo"} xref: MESH:C565790 {source="MONDO:equivalentTo"} xref: NCIT:C154316 {source="MONDO:equivalentTo"} xref: OMIM:604326 {source="Orphanet:98762", source="DOID:0050962", source="MONDO:equivalentTo", source="Orphanet:98762/e"} @@ -242852,6 +244660,7 @@ synonym: "ataxia-telangiectasia-like disorder type 1" EXACT [MONDORULE:1, OMIM:6 synonym: "ATLD" EXACT ABBREVIATION [Orphanet:251347] synonym: "ATLD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604391] xref: ICD10CM:G11.3 {source="Orphanet:251347/attributed", source="Orphanet:251347/ntbt", source="Orphanet:251347"} +xref: icd11.foundation:242329289 {source="MONDO:equivalentTo"} xref: ICD9:334.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C565779 {source="MONDO:equivalentTo"} xref: NCIT:C132224 @@ -243036,6 +244845,7 @@ synonym: "spinocerebellar ataxia type 11" EXACT [MONDORULE:2, OMIM:604432] xref: DOID:0050961 {source="MONDO:equivalentTo"} xref: GARD:10475 {source="Orphanet:98767"} xref: ICD10CM:G11.8 {source="Orphanet:98767/attributed", source="Orphanet:98767/ntbt", source="Orphanet:98767"} +xref: icd11.foundation:743674840 {source="MONDO:equivalentTo"} xref: MESH:C565772 {source="MONDO:equivalentTo"} xref: OMIM:604432 {source="Orphanet:98767", source="DOID:0050961", source="MONDO:equivalentTo", source="Orphanet:98767/e"} xref: Orphanet:98767 {source="OMIM:604432", source="MONDO:equivalentTo"} @@ -243266,6 +245076,7 @@ synonym: "SBF2 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, xref: DOID:0110190 {source="MONDO:equivalentTo"} xref: GARD:9200 {source="Orphanet:99956"} xref: ICD10CM:G60.0 {source="DOID:0110190", source="Orphanet:99956", source="Orphanet:99956/attributed", source="Orphanet:99956/ntbt"} +xref: icd11.foundation:393759720 {source="MONDO:equivalentTo"} xref: MESH:C535421 {source="MONDO:equivalentTo", source="Orphanet:99956", source="Orphanet:99956/e"} xref: OMIM:604563 {source="DOID:0110190", source="MONDO:equivalentTo", source="Orphanet:99956", source="Orphanet:99956/e"} xref: Orphanet:99956 {source="DOID:0110190", source="MONDO:equivalentTo", source="OMIM:604563"} @@ -243375,6 +245186,7 @@ xref: DOID:0111154 {source="MONDO:equivalentTo"} xref: EFO:1000645 {source="MONDO:equivalentTo"} xref: GARD:13591 {source="Orphanet:443236"} xref: ICD10CM:I95.1 {source="Orphanet:443236/attributed", source="Orphanet:443236/ntbt", source="Orphanet:443236", source="DOID:0111154"} +xref: icd11.foundation:1533647472 {source="MONDO:equivalentTo"} xref: MESH:D054972 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C85020 {source="MONDO:equivalentTo"} xref: OMIM:604715 {source="Orphanet:443236", source="MONDO:equivalentTo", source="EFO:1000645", source="DOID:0111154", source="Orphanet:443236/e"} @@ -243681,6 +245493,7 @@ synonym: "DPb" RELATED [OMIM:604809] synonym: "panbronchiolitis, diffuse" RELATED [OMIM:604809] synonym: "PBLT" RELATED ABBREVIATION [OMIM:604809] xref: GARD:8526 {source="Orphanet:171700"} +xref: icd11.foundation:291357751 {source="MONDO:equivalentTo"} xref: icd11.foundation:291357751 {source="MONDO:equivalentTo", source="Orphanet:171700"} xref: ICD9:491.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10062952 {source="Orphanet:171700/e", source="Orphanet:171700"} @@ -243744,6 +245557,7 @@ synonym: "STL2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604841] xref: DOID:0080675 {source="MONDO:equivalentTo"} xref: GARD:5020 {source="Orphanet:90654"} xref: ICD10CM:Q87.5 {source="Orphanet:90654/attributed", source="Orphanet:90654/ntbt", source="Orphanet:90654"} +xref: icd11.foundation:1652024415 {source="MONDO:equivalentTo"} xref: MESH:C537493 {source="Orphanet:90654/e", source="MONDO:equivalentTo", source="Orphanet:90654"} xref: NCIT:C74985 {source="MONDO:equivalentTo"} xref: OMIM:604841 {source="Orphanet:90654/e", source="MONDO:equivalentTo", source="Orphanet:90654"} @@ -243789,6 +245603,7 @@ synonym: "OSCDP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604864] synonym: "osteoarthritis with mild chondrodysplasia" RELATED [MONDO:Lexical, OMIM:604864] xref: GARD:16812 {source="Orphanet:93279"} xref: ICD10CM:Q77.7 {source="Orphanet:93279", source="Orphanet:93279/attributed", source="Orphanet:93279/ntbt"} +xref: icd11.foundation:690266690 {source="MONDO:equivalentTo"} xref: ICD9:755.63 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C565740 {source="MONDO:equivalentTo"} xref: OMIM:604864 {source="MONDO:equivalentTo", source="Orphanet:93279", source="Orphanet:93279/e"} @@ -243814,6 +245629,7 @@ synonym: "NORTH American Indian childhood cirrhosis" RELATED [MONDO:Lexical, OMI xref: GARD:17037 {source="Orphanet:168583"} xref: ICD10CM:K74.6 {source="Orphanet:168583/attributed", source="Orphanet:168583/ntbt", source="Orphanet:168583"} xref: icd11.foundation:1992710077 {source="MONDO:equivalentTo", source="Orphanet:168583"} +xref: icd11.foundation:1992710077 {source="MONDO:equivalentTo"} xref: MESH:C565737 {source="MONDO:equivalentTo"} xref: OMIM:604901 {source="Orphanet:168583/e", source="MONDO:equivalentTo", source="Orphanet:168583"} xref: Orphanet:168583 {source="MONDO:equivalentTo", source="OMIM:604901"} @@ -244173,6 +245989,7 @@ xref: GARD:5274 {source="Orphanet:1209"} xref: HP:0011662 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q22.4 {source="Orphanet:1209/ntbt", source="MONDO:directSiblingOf", source="Orphanet:1209"} xref: icd11.foundation:845891723 {source="MONDO:equivalentTo", source="Orphanet:1209"} +xref: icd11.foundation:845891723 {source="MONDO:equivalentTo"} xref: MedDRA:10049767 {source="Orphanet:1209/e", source="Orphanet:1209"} xref: MESH:D018785 {source="Orphanet:1209/e", source="MONDO:equivalentTo", source="Orphanet:1209"} xref: NCIT:C85202 {source="MONDO:equivalentTo"} @@ -244217,6 +246034,7 @@ synonym: "hypertension, early-onset, autosomal dominant, with Severe exacerbatio synonym: "hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy" RELATED [OMIM:605115] xref: GARD:19093 {source="Orphanet:88660"} xref: ICD10CM:I15.1 {source="Orphanet:88660/attributed", source="Orphanet:88660/ntbt", source="Orphanet:88660"} +xref: icd11.foundation:538048714 {source="MONDO:equivalentTo"} xref: MESH:C565359 {source="MONDO:equivalentTo"} xref: OMIM:605115 {source="Orphanet:88660/e", source="MONDO:equivalentTo", source="Orphanet:88660"} xref: Orphanet:88660 {source="OMIM:605115", source="MONDO:equivalentTo"} @@ -244442,6 +246260,7 @@ synonym: "Neuropathy, Congenital Hypomyelination" EXACT [NORD:1506] xref: DOID:0110195 {source="MONDO:equivalentTo"} xref: GARD:9203 {source="Orphanet:99951"} xref: ICD10CM:G60.0 {source="Orphanet:99951", source="Orphanet:99951/attributed", source="Orphanet:99951/ntbt", source="DOID:0110195"} +xref: icd11.foundation:225958466 {source="MONDO:equivalentTo"} xref: MESH:C535301 {source="Orphanet:99951", source="MONDO:equivalentTo", source="Orphanet:99951/e"} xref: NORD:1506 {source="MONDO:NORD"} xref: OMIM:605253 {source="Orphanet:99951", source="GARD:0006170", source="MONDO:equivalentTo", source="Orphanet:99951/e", source="DOID:0110195"} @@ -244511,6 +246330,7 @@ synonym: "spinocerebellar ataxia type 13" EXACT [MONDORULE:2, OMIM:605259] xref: DOID:0050963 {source="MONDO:equivalentTo"} xref: GARD:9611 {source="Orphanet:98768"} xref: ICD10CM:G11.2 {source="Orphanet:98768", source="Orphanet:98768/attributed", source="Orphanet:98768/ntbt"} +xref: icd11.foundation:1191033828 {source="MONDO:equivalentTo"} xref: MESH:C537195 {source="MONDO:equivalentTo", source="Orphanet:98768", source="Orphanet:98768/e"} xref: OMIM:605259 {source="MONDO:equivalentTo", source="DOID:0050963", source="Orphanet:98768", source="Orphanet:98768/e"} xref: Orphanet:98768 {source="OMIM:605259", source="MONDO:equivalentTo"} @@ -244536,6 +246356,7 @@ synonym: "triangular tibia and fibular aplasia" RELATED [GARD:0010584] synonym: "triangular tibia-fibular aplasia syndrome" EXACT [Orphanet:85170] xref: GARD:10584 {source="Orphanet:85170"} xref: ICD10CM:Q78.8 {source="Orphanet:85170", source="Orphanet:85170/attributed", source="Orphanet:85170/ntbt"} +xref: icd11.foundation:1627637820 {source="MONDO:equivalentTo"} xref: MESH:C565349 {source="MONDO:equivalentTo"} xref: OMIM:605274 {source="MONDO:equivalentTo", source="Orphanet:85170", source="Orphanet:85170/e"} xref: Orphanet:85170 {source="MONDO:equivalentTo", source="OMIM:605274"} @@ -244661,6 +246482,7 @@ synonym: "neuropathy, hereditary motor and sensory, Russe type" RELATED [MONDO:L xref: DOID:0110196 {source="MONDO:equivalentTo"} xref: GARD:10132 {source="Orphanet:99953"} xref: ICD10CM:G60.0 {source="Orphanet:99953", source="Orphanet:99953/attributed", source="Orphanet:99953/ntbt", source="DOID:0110196"} +xref: icd11.foundation:995395080 {source="MONDO:equivalentTo"} xref: MESH:C535813 {source="MONDO:equivalentTo"} xref: OMIM:605285 {source="Orphanet:99953", source="MONDO:equivalentTo", source="DOID:0110196", source="Orphanet:99953/e"} xref: Orphanet:99953 {source="MONDO:equivalentTo", source="DOID:0110196", source="OMIM:605285"} @@ -244797,6 +246619,7 @@ synonym: "spinocerebellar ataxia type 14" EXACT [MONDORULE:2, OMIM:605361] xref: DOID:0050964 {source="MONDO:equivalentTo"} xref: GARD:9867 {source="Orphanet:98763"} xref: ICD10CM:G11.2 {source="Orphanet:98763", source="Orphanet:98763/attributed", source="Orphanet:98763/ntbt"} +xref: icd11.foundation:736357100 {source="MONDO:equivalentTo"} xref: MESH:C537196 {source="Orphanet:98763", source="MONDO:equivalentTo", source="Orphanet:98763/e"} xref: OMIM:605361 {source="Orphanet:98763", source="DOID:0050964", source="MONDO:equivalentTo", source="Orphanet:98763/e"} xref: Orphanet:98763 {source="MONDO:equivalentTo", source="OMIM:605361"} @@ -245462,6 +247285,7 @@ synonym: "LMNA Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, xref: DOID:0110156 {source="MONDO:equivalentTo"} xref: GARD:8548 {source="Orphanet:98856"} xref: ICD10CM:G60.0 {source="Orphanet:98856", source="DOID:0110156", source="Orphanet:98856/attributed", source="Orphanet:98856/ntbt"} +xref: icd11.foundation:957134152 {source="MONDO:equivalentTo"} xref: MESH:C537990 {source="MONDO:equivalentTo", source="Orphanet:98856", source="Orphanet:98856/e"} xref: OMIM:605588 {source="MONDO:equivalentTo", source="Orphanet:98856", source="DOID:0110156", source="Orphanet:98856/e"} xref: Orphanet:98856 {source="OMIM:605588", source="MONDO:equivalentTo", source="DOID:0110156"} @@ -245507,6 +247331,7 @@ synonym: "MED25 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, xref: DOID:0110179 {source="MONDO:equivalentTo"} xref: GARD:1249 {source="Orphanet:101101"} xref: ICD10CM:G60.0 {source="Orphanet:101101/attributed", source="Orphanet:101101/ntbt", source="Orphanet:101101", source="DOID:0110179"} +xref: icd11.foundation:2009111705 {source="MONDO:equivalentTo"} xref: MESH:C537991 {source="Orphanet:101101", source="MONDO:equivalentTo", source="Orphanet:101101/e"} xref: OMIM:605589 {source="Orphanet:101101", source="MONDO:equivalentTo", source="Orphanet:101101/e", source="DOID:0110179"} xref: Orphanet:101101 {source="OMIM:605589", source="MONDO:equivalentTo", source="DOID:0110179"} @@ -246171,6 +247996,7 @@ synonym: "vitiliginous choroiditis" EXACT [DOID:0111079, Orphanet:179] xref: DOID:0111079 {source="MONDO:equivalentTo"} xref: GARD:5926 {source="Orphanet:179"} xref: ICD10CM:H30.1 {source="Orphanet:179/ntbt", source="DOID:0111079", source="Orphanet:179"} +xref: icd11.foundation:1954035043 {source="MONDO:equivalentTo"} xref: MESH:C537630 {source="Orphanet:179/e", source="MONDO:equivalentTo", source="DOID:0111079", source="Orphanet:179"} xref: OMIM:605808 {source="Orphanet:179/e", source="MONDO:equivalentTo", source="DOID:0111079", source="Orphanet:179"} xref: Orphanet:179 {source="MONDO:equivalentTo", source="DOID:0111079", source="OMIM:605808"} @@ -246325,6 +248151,7 @@ synonym: "SOS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605822] synonym: "spondyloocular syndrome" RELATED [MONDO:Lexical, OMIM:605822] xref: GARD:16740 {source="Orphanet:85194"} xref: ICD10CM:Q87.5 {source="Orphanet:85194", source="Orphanet:85194/attributed", source="Orphanet:85194/ntbt"} +xref: icd11.foundation:1611450426 {source="MONDO:equivalentTo"} xref: OMIM:605822 {source="Orphanet:85194/e", source="MONDO:equivalentTo", source="Orphanet:85194"} xref: Orphanet:85194 {source="OMIM:605822", source="MONDO:equivalentTo"} xref: SCTID:715653007 {source="MONDO:equivalentTo"} @@ -246497,6 +248324,7 @@ xref: DOID:9268 {source="MONDO:equivalentTo"} xref: GARD:7219 {source="Orphanet:407"} xref: ICD10CM:E72.5 {source="Orphanet:407/inclusion", source="Orphanet:407", source="Orphanet:407/ntbt"} xref: ICD10CM:E72.51 {source="DOID:9268"} +xref: icd11.foundation:1491869639 {source="MONDO:equivalentTo"} xref: icd11.foundation:1491869639 {source="MONDO:equivalentTo", source="Orphanet:407"} xref: ICD9:270.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D020158 {source="DOID:9268"} @@ -246682,6 +248510,7 @@ synonym: "syndactyly, preaxial polydactyly, and sternal deformity" RELATED [OMIM synonym: "syndactyly-preaxial polydactyly-sternal deformity syndrome" EXACT [Orphanet:85203] xref: GARD:8485 {source="Orphanet:85203"} xref: ICD10CM:Q74.0 {source="Orphanet:85203/attributed", source="Orphanet:85203/ntbt", source="Orphanet:85203"} +xref: icd11.foundation:1060723089 {source="MONDO:equivalentTo"} xref: MESH:C535664 {source="MONDO:equivalentTo"} xref: OMIM:605967 {source="Orphanet:85203", source="MONDO:equivalentTo", source="Orphanet:85203/e"} xref: Orphanet:85203 {source="MONDO:equivalentTo", source="OMIM:605967"} @@ -246728,6 +248557,7 @@ synonym: "Taldo deficiency" RELATED [OMIM:606003] synonym: "transaldolase deficiency" EXACT [OMIM:606003] xref: GARD:10445 {source="Orphanet:101028"} xref: ICD10CM:E74.8 {source="Orphanet:101028", source="Orphanet:101028/attributed", source="Orphanet:101028/ntbt"} +xref: icd11.foundation:424536994 {source="MONDO:equivalentTo"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563207 {source="MONDO:equivalentTo"} xref: OMIM:606003 {source="MONDO:equivalentTo", source="Orphanet:101028", source="Orphanet:101028/e"} @@ -247017,6 +248847,7 @@ def: "A benign myopathy with symptoms and signs of muscular hyperexcitability. T subset: inferred_rare subset: rare xref: ICD10CM:G71.8 {source="Orphanet:97238/attributed", source="Orphanet:97238/ntbt", source="Orphanet:97238"} +xref: icd11.foundation:894802822 {source="MONDO:equivalentTo"} xref: ICD9:359.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10069417 {source="Orphanet:97238", source="Orphanet:97238/e"} xref: MESH:C535685 {source="Orphanet:97238", source="Orphanet:97238/e"} @@ -247222,6 +249053,7 @@ synonym: "posterior cyclitis" EXACT [DOID:12731] xref: DOID:12731 {source="EFO:1001088", source="MONDO:equivalentTo"} xref: EFO:1001088 {source="MONDO:equivalentTo"} xref: ICD10CM:H30.2 {source="DOID:12731"} +xref: icd11.foundation:127977237 {source="MONDO:equivalentTo"} xref: ICD9:363.21 {source="DOID:12731"} xref: MedDRA:10034052 {source="EFO:1001088"} xref: MESH:D015868 {source="EFO:1001088", source="MONDO:equivalentTo", source="DOID:12731"} @@ -247434,6 +249266,7 @@ xref: EFO:0007143 {source="MONDO:equivalentTo"} xref: GARD:5654 {source="Orphanet:163699"} xref: HP:0012218 {source="MONDO:otherHierarchy"} xref: ICD10CM:C49.9 {source="Orphanet:163699/ntbt", source="Orphanet:163699"} +xref: icd11.foundation:1716531235 {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9581/3 {source="NCIT:C3750"} xref: MedDRA:10001882 {source="Orphanet:163699/e", source="Orphanet:163699"} @@ -247649,6 +249482,7 @@ synonym: "Interleukin-2 receptor alpha chain deficiency" EXACT [Orphanet:169100] xref: DOID:0111968 {source="MONDO:equivalentTo"} xref: GARD:17049 {source="Orphanet:169100"} xref: ICD10CM:D81.2 {source="Orphanet:169100/attributed", source="Orphanet:169100/ntbt", source="Orphanet:169100"} +xref: icd11.foundation:1705860123 {source="MONDO:equivalentTo"} xref: MESH:C565232 {source="MONDO:equivalentTo"} xref: OMIM:606367 {source="Orphanet:169100/e", source="MONDO:equivalentTo", source="Orphanet:169100"} xref: Orphanet:169100 {source="MONDO:equivalentTo", source="OMIM:606367"} @@ -247761,6 +249595,7 @@ xref: EFO:0007550 {source="MONDO:equivalentTo"} xref: GARD:16998 {source="Orphanet:163690"} xref: GARD:20634 {source="Orphanet:238517"} xref: ICD10CM:E72.0 {source="Orphanet:163690", source="Orphanet:163690/attributed", source="Orphanet:163690/ntbt", source="Orphanet:238517", source="DOID:0060858", source="Orphanet:238517/attributed", source="Orphanet:238517/ntbt"} +xref: icd11.foundation:1742079513 {source="MONDO:equivalentTo"} xref: icd11.foundation:1852649756 {source="MONDO:equivalentTo", source="Orphanet:238517", source="https://orcid.org/0000-0002-4142-7153"} xref: MESH:C564710 {source="MONDO:equivalentTo"} xref: OMIM:606407 {source="Orphanet:163690", source="MONDO:equivalentTo", source="Orphanet:163690/e", source="DOID:0060858"} @@ -247804,6 +249639,7 @@ synonym: "Tnx deficiency" RELATED [OMIM:606408] xref: DOID:0080731 {source="MONDO:equivalentTo"} xref: GARD:8507 {source="Orphanet:230839"} xref: ICD10CM:Q79.6 {source="Orphanet:230839", source="Orphanet:230839/attributed", source="Orphanet:230839/ntbt"} +xref: icd11.foundation:1840696236 {source="MONDO:equivalentTo"} xref: MESH:C536193 {source="MONDO:equivalentTo"} xref: OMIM:606408 {source="Orphanet:230839", source="MONDO:equivalentTo", source="Orphanet:230839/e"} xref: Orphanet:230839 {source="MONDO:equivalentTo", source="OMIM:606408"} @@ -247975,6 +249811,7 @@ synonym: "Phaces association" RELATED [OMIM:606519] synonym: "Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities" RELATED [GARD:0008338] xref: GARD:8338 {source="Orphanet:42775"} xref: ICD10CM:Q28.8 {source="Orphanet:42775", source="Orphanet:42775/attributed", source="Orphanet:42775/ntbt"} +xref: icd11.foundation:1825849023 {source="MONDO:equivalentTo"} xref: MedDRA:10068032 {source="Orphanet:42775", source="Orphanet:42775/e"} xref: NORD:1927 {source="MONDO:NORD"} xref: OMIM:606519 {source="Orphanet:42775", source="MONDO:equivalentTo", source="Orphanet:42775/e"} @@ -248089,6 +249926,7 @@ synonym: "periodic vestibulocerebellar ataxia" EXACT [OMIM:606552, Orphanet:7913 xref: DOID:0050992 {source="MONDO:equivalentTo"} xref: GARD:16703 {source="Orphanet:79136"} xref: ICD10CM:G11.8 {source="Orphanet:79136/attributed", source="Orphanet:79136/ntbt", source="Orphanet:79136"} +xref: icd11.foundation:1119711189 {source="MONDO:equivalentTo"} xref: MESH:C564698 {source="MONDO:equivalentTo"} xref: OMIM:606552 {source="DOID:0050992", source="Orphanet:79136/e", source="MONDO:equivalentTo", source="Orphanet:79136"} xref: Orphanet:79136 {source="MONDO:equivalentTo", source="OMIM:606552"} @@ -248138,6 +249976,7 @@ synonym: "SLC45A2 oculocutaneous albinism" EXACT [MONDO:design_pattern, MONDO:pa xref: DOID:0070098 {source="MONDO:equivalentTo"} xref: GARD:16722 {source="Orphanet:79435"} xref: ICD10CM:E70.3 {source="Orphanet:79435", source="Orphanet:79435/attributed", source="Orphanet:79435/ntbt"} +xref: icd11.foundation:1286886811 {source="MONDO:equivalentTo"} xref: MESH:C564696 {source="MONDO:equivalentTo"} xref: OMIM:606574 {source="DOID:0070098", source="Orphanet:79435", source="MONDO:equivalentTo", source="Orphanet:79435/e"} xref: Orphanet:79435 {source="MONDO:equivalentTo", source="OMIM:606574"} @@ -248447,6 +250286,7 @@ synonym: "hypermethioninemia due to GNMT deficiency" EXACT [DOID:0111037, Orphan xref: DOID:0111037 {source="MONDO:equivalentTo"} xref: GARD:10764 {source="Orphanet:289891"} xref: ICD10CM:E72.1 {source="Orphanet:289891/attributed", source="Orphanet:289891/ntbt", source="Orphanet:289891", source="DOID:0111037"} +xref: icd11.foundation:16192453 {source="MONDO:equivalentTo"} xref: OMIM:606664 {source="Orphanet:289891/e", source="MONDO:equivalentTo", source="Orphanet:289891", source="DOID:0111037"} xref: Orphanet:289891 {source="MONDO:equivalentTo", source="OMIM:606664", source="DOID:0111037"} xref: SCTID:763720007 {source="MONDO:equivalentTo"} @@ -248568,6 +250408,7 @@ synonym: "lymphangioleiomyomatosis, somatic" EXACT [OMIM:606690, OMIM:genemap2] synonym: "lymphangiomyomatosis" EXACT [DOID:3319, NCIT:C3725, OMIM:606690] synonym: "pulmonary lymphangioleiomyomatosis" NARROW [DOID:3319] xref: ICD10CM:J84.81 {source="MONDO:equivalentTo"} +xref: icd11.foundation:902628446 {source="MONDO:equivalentTo"} xref: ICDO:9174/1 {source="NCIT:C3725"} xref: MESH:D018192 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C3725 {source="MONDO:equivalentTo"} @@ -248967,6 +250808,7 @@ synonym: "myopathy, distal, with anterior tibial onset" RELATED [MONDO:Lexical, xref: DOID:0111187 {source="MONDO:equivalentTo"} xref: GARD:17080 {source="Orphanet:178400"} xref: ICD10CM:G71.0 {source="Orphanet:178400/attributed", source="Orphanet:178400/ntbt", source="Orphanet:178400"} +xref: icd11.foundation:651559966 {source="MONDO:equivalentTo"} xref: MESH:C564664 {source="MONDO:equivalentTo"} xref: OMIM:606768 {source="Orphanet:178400", source="MONDO:equivalentTo", source="Orphanet:178400/e"} xref: Orphanet:178400 {source="OMIM:606768", source="MONDO:equivalentTo"} @@ -249012,6 +250854,7 @@ synonym: "HMH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606773] synonym: "hypertrophy and asymmetry of the facial muscles" RELATED [GARD:0010084] xref: GARD:10084 {source="Orphanet:141148"} xref: ICD10CM:Q67.4 {source="Orphanet:141148", source="Orphanet:141148/ntbt"} +xref: icd11.foundation:1338941880 {source="MONDO:equivalentTo"} xref: ICD9:744.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535862 {source="MONDO:equivalentTo", source="Orphanet:141148", source="Orphanet:141148/e"} xref: OMIM:606773 {source="MONDO:equivalentTo", source="Orphanet:141148", source="Orphanet:141148/e"} @@ -249055,6 +250898,7 @@ synonym: "GLUT1DS1" RELATED ABBREVIATION [MESH:C536830, MONDO:Lexical, OMIM:6067 xref: EFO:0009139 {source="MONDO:equivalentTo"} xref: GARD:9265 {source="Orphanet:71277"} xref: ICD10CM:G93.4 {source="Orphanet:71277/attributed", source="Orphanet:71277/ntbt", source="Orphanet:71277"} +xref: icd11.foundation:1231079185 {source="MONDO:equivalentTo"} xref: MESH:C536830 {source="MONDO:equivalentTo"} xref: NORD:1188 {source="MONDO:NORD"} xref: OMIM:606777 {source="Orphanet:71277", source="MONDO:equivalentTo", source="GARD:0009265", source="Orphanet:71277/e"} @@ -249089,6 +250933,7 @@ synonym: "hyperbilirubinemia, Crigler-Najjar type 2" RELATED [OMIM:606785] synonym: "UGT deficiency type 2" EXACT [Orphanet:79235] xref: GARD:8683 {source="Orphanet:79235"} xref: ICD10CM:E80.5 {source="Orphanet:79235/attributed", source="Orphanet:79235/ntbt", source="Orphanet:79235"} +xref: icd11.foundation:846453488 {source="MONDO:equivalentTo"} xref: MedDRA:10011387 {source="Orphanet:79235/e", source="Orphanet:79235"} xref: MESH:C536213 {source="Orphanet:79235/e", source="MONDO:equivalentTo", source="Orphanet:79235"} xref: OMIM:606785 {source="Orphanet:79235/e", source="MONDO:equivalentTo", source="Orphanet:79235"} @@ -249142,6 +250987,7 @@ synonym: "blepharospasm" EXACT [NCIT:C118723] synonym: "blepharospasm, benign essential" RELATED [OMIM:606798] xref: DOID:529 {source="MONDO:equivalentTo"} xref: ICD10CM:G24.5 {source="DOID:529", source="MONDO:equivalentTo"} +xref: icd11.foundation:1127235959 {source="MONDO:equivalentTo"} xref: ICD9:333.81 {source="DOID:529", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D001764 {source="DOID:529", source="MONDO:equivalentTo"} xref: NCIT:C118723 {source="DOID:529", source="MONDO:otherHierarchy"} @@ -249216,6 +251062,7 @@ synonym: "monosaccharide malabsorption" RELATED [OMIM:606824] synonym: "SGLT1 deficiency" EXACT [Orphanet:35710] xref: GARD:6521 {source="Orphanet:35710"} xref: ICD10CM:E74.3 {source="Orphanet:35710", source="Orphanet:35710/attributed", source="Orphanet:35710/ntbt"} +xref: icd11.foundation:2108415931 {source="MONDO:equivalentTo"} xref: icd11.foundation:2108415931 {source="Orphanet:35710", source="MONDO:equivalentTo"} xref: ICD9:271.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10066388 {source="Orphanet:35710", source="Orphanet:35710/e"} @@ -249355,6 +251202,7 @@ synonym: "polymicrogyria, bilateral frontoparietal" RELATED [MONDO:Lexical, OMIM xref: DOID:0080922 {source="MONDO:equivalentTo"} xref: GARD:10784 {source="Orphanet:101070"} xref: ICD10CM:Q04.3 {source="Orphanet:101070", source="Orphanet:101070/attributed", source="Orphanet:101070/ntbt"} +xref: icd11.foundation:1119484699 {source="MONDO:equivalentTo"} xref: MESH:C564652 {source="MONDO:equivalentTo"} xref: NCIT:C148367 {source="MONDO:equivalentTo"} xref: OMIM:606854 {source="MONDO:equivalentTo", source="Orphanet:101070", source="Orphanet:101070/e"} @@ -249591,6 +251439,7 @@ synonym: "Yellow oculocutaneous albinism" EXACT [Orphanet:79434] xref: DOID:0070095 {source="MONDO:equivalentTo"} xref: GARD:594 {source="Orphanet:79434"} xref: ICD10CM:E70.3 {source="Orphanet:79434/attributed", source="Orphanet:79434/ntbt", source="Orphanet:79434"} +xref: icd11.foundation:1233842528 {source="MONDO:equivalentTo"} xref: MESH:C537729 {source="Orphanet:79434/e", source="MONDO:equivalentTo", source="Orphanet:79434"} xref: OMIM:606952 {source="Orphanet:79434/e", source="MONDO:equivalentTo", source="Orphanet:79434", source="DOID:0070095"} xref: Orphanet:352731 {source="OMIM:606952"} @@ -249977,6 +251826,7 @@ synonym: "Polyepiphyseal dysplasia type 5" EXACT [Orphanet:93311] xref: DOID:0070299 {source="MONDO:equivalentTo"} xref: GARD:9794 {source="Orphanet:93311"} xref: ICD10CM:Q77.3 {source="Orphanet:93311/attributed", source="Orphanet:93311/ntbt", source="MONDO:relatedTo", source="Orphanet:93311"} +xref: icd11.foundation:537678813 {source="MONDO:equivalentTo"} xref: MESH:C535505 {source="Orphanet:93311", source="MONDO:equivalentTo", source="Orphanet:93311/e"} xref: OMIM:607078 {source="Orphanet:93311", source="MONDO:equivalentTo", source="Orphanet:93311/e"} xref: Orphanet:93311 {source="MONDO:equivalentTo", source="OMIM:607078"} @@ -250177,6 +252027,7 @@ synonym: "spondylometaepiphyseal dysplasia, Menger type" EXACT [DOID:0050640] xref: DOID:0080942 {source="MONDO:equivalentTo"} xref: GARD:9657 {source="Orphanet:93347"} xref: ICD10CM:Q77.7 {source="Orphanet:93347", source="Orphanet:93347/attributed", source="Orphanet:93347/ntbt"} +xref: icd11.foundation:1897630209 {source="MONDO:equivalentTo"} xref: MESH:C538256 {source="MONDO:equivalentTo", source="Orphanet:93347", source="Orphanet:93347/e"} xref: OMIMPS:607095 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:93347 {source="MONDO:equivalentTo", source="OMIM:607095"} @@ -250329,6 +252180,7 @@ synonym: "Mmedf" RELATED [OMIM:607131] synonym: "multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome" EXACT [Orphanet:166024] xref: GARD:17014 {source="Orphanet:166024"} xref: ICD10CM:Q77.3 {source="Orphanet:166024", source="MONDO:relatedTo", source="Orphanet:166024/attributed", source="Orphanet:166024/ntbt"} +xref: icd11.foundation:1359939784 {source="MONDO:equivalentTo"} xref: MESH:C564621 {source="MONDO:equivalentTo"} xref: OMIM:607131 {source="Orphanet:166024", source="MONDO:equivalentTo", source="Orphanet:166024/e"} xref: Orphanet:166024 {source="MONDO:equivalentTo", source="OMIM:607131"} @@ -250390,6 +252242,7 @@ synonym: "spinocerebellar ataxia type 17" EXACT [MONDORULE:2, OMIM:607136] xref: DOID:0050967 {source="MONDO:equivalentTo"} xref: GARD:10469 {source="Orphanet:98759"} xref: ICD10CM:G11.8 {source="Orphanet:98759", source="Orphanet:98759/attributed", source="Orphanet:98759/ntbt"} +xref: icd11.foundation:1173627424 {source="MONDO:equivalentTo"} xref: MESH:C563505 {source="MONDO:equivalentTo"} xref: MESH:C564616 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: MESH:C565866 {source="MONDO:equivalentTo"} @@ -250535,6 +252388,7 @@ xref: DOID:4481 {source="EFO:0005854", source="MONDO:equivalentTo"} xref: EFO:0003956 {source="DOID:4481"} xref: EFO:0005854 {source="MONDO:equivalentTo"} xref: HP:0003193 {source="EFO:0005854", source="MONDO:otherHierarchy"} +xref: icd11.foundation:1711769234 {source="MONDO:equivalentTo"} xref: ICD9:477 {source="EFO:0005854"} xref: ICD9:477.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:477.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -251078,6 +252932,7 @@ synonym: "ophthalmoplegia, progressive external, and scoliosis" RELATED [OMIM:60 synonym: "progressive external ophthalmoplegia and scoliosis" EXACT [Orphanet:2744] xref: GARD:12682 {source="Orphanet:2744"} xref: ICD10CM:H49.4 {source="MONDO:relatedTo", source="Orphanet:2744", source="Orphanet:2744/attributed", source="Orphanet:2744/ntbt"} +xref: icd11.foundation:226403142 {source="MONDO:equivalentTo"} xref: ICD9:737.43 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C564593 {source="MONDO:equivalentTo"} xref: OMIMPS:607313 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} @@ -251231,6 +253086,7 @@ synonym: "Sc5D deficiency" RELATED [OMIM:607330] synonym: "sterol C5-desaturase deficiency" EXACT [OMIM:607330, Orphanet:46059] xref: GARD:9711 {source="Orphanet:46059"} xref: ICD10CM:Q87.8 {source="Orphanet:46059/attributed", source="Orphanet:46059/ntbt", source="Orphanet:46059"} +xref: icd11.foundation:1816858203 {source="MONDO:equivalentTo"} xref: MESH:C537880 {source="Orphanet:46059/e", source="MONDO:equivalentTo", source="Orphanet:46059"} xref: OMIM:607330 {source="Orphanet:46059/e", source="MONDO:equivalentTo", source="Orphanet:46059"} xref: Orphanet:46059 {source="MONDO:equivalentTo", source="OMIM:607330"} @@ -251677,6 +253533,7 @@ synonym: "spinocerebellar ataxia type 21" EXACT [MONDORULE:2, OMIM:607454] xref: DOID:0050972 {source="MONDO:equivalentTo"} xref: GARD:9999 {source="Orphanet:98773"} xref: ICD10CM:G11.1 {source="Orphanet:98773", source="Orphanet:98773/attributed", source="Orphanet:98773/ntbt"} +xref: icd11.foundation:1426889593 {source="MONDO:equivalentTo"} xref: MESH:C537200 {source="Orphanet:98773", source="MONDO:equivalentTo", source="Orphanet:98773/e"} xref: OMIM:607454 {source="Orphanet:98773", source="DOID:0050972", source="MONDO:equivalentTo", source="Orphanet:98773/e"} xref: Orphanet:98773 {source="MONDO:equivalentTo", source="OMIM:607454"} @@ -251703,6 +253560,7 @@ synonym: "spinocerebellar ataxia 18" RELATED [MONDO:Lexical, OMIM:607458] xref: DOID:0050969 {source="MONDO:equivalentTo"} xref: GARD:9976 {source="Orphanet:98771"} xref: ICD10CM:G11.8 {source="Orphanet:98771/attributed", source="Orphanet:98771/ntbt", source="Orphanet:98771"} +xref: icd11.foundation:1564628854 {source="MONDO:equivalentTo"} xref: MESH:C537197 {source="Orphanet:98771/e", source="MONDO:equivalentTo", source="Orphanet:98771"} xref: OMIM:607458 {source="Orphanet:98771/e", source="MONDO:equivalentTo", source="DOID:0050969", source="Orphanet:98771"} xref: Orphanet:98771 {source="OMIM:607458", source="MONDO:equivalentTo"} @@ -251821,6 +253679,7 @@ synonym: "Västerbotten dystrophy" EXACT [Orphanet:85128] xref: DOID:0050683 {source="MONDO:equivalentTo"} xref: GARD:16734 {source="Orphanet:85128"} xref: ICD10CM:H35.5 {source="Orphanet:85128", source="MONDO:directSiblingOf", source="Orphanet:85128/attributed", source="Orphanet:85128/ntbt"} +xref: icd11.foundation:2110390212 {source="MONDO:equivalentTo"} xref: MESH:C564392 {source="MONDO:equivalentTo"} xref: OMIM:607475 {source="DOID:0050683", source="MONDO:equivalentTo", source="Orphanet:85128", source="Orphanet:85128/e"} xref: Orphanet:85128 {source="MONDO:equivalentTo", source="OMIM:607475"} @@ -251893,6 +253752,7 @@ xref: DOID:0050659 {source="MONDO:equivalentTo"} xref: GARD:10237 {source="Orphanet:65284"} xref: GARD:17097 {source="Orphanet:199348"} xref: ICD10CM:G25.8 {source="Orphanet:65284", source="Orphanet:65284/attributed", source="Orphanet:65284/ntbt"} +xref: icd11.foundation:1776831202 {source="MONDO:equivalentTo"} xref: ICD9:333.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537658 {source="Orphanet:65284/e", source="MONDO:equivalentTo", source="Orphanet:65284"} xref: OMIM:607483 {source="MONDO:equivalentTo", source="Orphanet:65284", source="DOID:0050659", source="Orphanet:65284/ntbt"} @@ -252079,6 +253939,7 @@ xref: DOID:9008 {source="MONDO:equivalentTo", source="EFO:0003778"} xref: EFO:0003778 {source="DOID:9008", source="MONDO:equivalentTo"} xref: ICD10CM:L40.5 {source="DOID:9008"} xref: ICD10CM:L40.50 {source="DOID:9008"} +xref: icd11.foundation:868183264 {source="MONDO:equivalentTo"} xref: ICD9:696.0 {source="DOID:9008"} xref: MESH:D015535 {source="DOID:9008", source="MONDO:equivalentTo", source="EFO:0003778"} xref: NCIT:C61277 {source="DOID:9008", source="MONDO:equivalentTo", source="EFO:0003778"} @@ -252437,6 +254298,7 @@ subset: rare synonym: "EBSS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607600, Orphanet:89839] synonym: "epidermolysis bullosa simplex superficialis" EXACT [MONDO:Lexical, OMIM:607600] xref: ICD10CM:Q81.0 {source="Orphanet:89839", source="Orphanet:89839/attributed", source="Orphanet:89839/ntbt"} +xref: icd11.foundation:1738578678 {source="MONDO:equivalentTo"} xref: MESH:C564368 {source="MONDO:equivalentTo"} xref: OMIM:607600 {source="MONDO:equivalentTo", source="Orphanet:89839", source="Orphanet:89839/e"} xref: Orphanet:89839 {source="OMIM:607600", source="MONDO:equivalentObsolete"} @@ -252459,6 +254321,7 @@ synonym: "ichthyosis, annular epidermolytic" EXACT [OMIMPS:607602] synonym: "ichthyosis, cyclic, with epidermolytic hyperkeratosis" RELATED [OMIM:607602] xref: GARD:17304 {source="Orphanet:281139"} xref: ICD10CM:Q80.3 {source="Orphanet:281139/attributed", source="Orphanet:281139/ntbt", source="Orphanet:281139"} +xref: icd11.foundation:280058464 {source="MONDO:equivalentTo"} xref: MESH:C564367 {source="MONDO:equivalentTo"} xref: OMIMPS:607602 {source="MONDO:equivalentTo"} xref: Orphanet:281139 {source="OMIM:607602", source="MONDO:equivalentTo"} @@ -252489,6 +254352,7 @@ xref: DOID:0070112 {source="MONDO:equivalentTo"} xref: GARD:10729 {source="Orphanet:77293"} xref: ICD10CM:E75.2 {source="Orphanet:77293/inclusion", source="DOID:0070112", source="Orphanet:77293", source="Orphanet:77293/ntbt"} xref: ICD10CM:E75.241 {source="MONDO:equivalentTo"} +xref: icd11.foundation:327269975 {source="MONDO:equivalentTo"} xref: MESH:D052537 {source="MONDO:equivalentTo", source="Orphanet:77293", source="Orphanet:77293/e"} xref: NCIT:C126866 {source="MONDO:equivalentTo"} xref: OMIM:607616 {source="DOID:0070112", source="MONDO:equivalentTo", source="Orphanet:77293", source="Orphanet:77293/e"} @@ -252531,6 +254395,7 @@ synonym: "partial albinism and immunodeficiency syndrome" EXACT [DOID:0060833, O xref: DOID:0060833 {source="MONDO:equivalentTo"} xref: GARD:4483 {source="Orphanet:79477"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:79477/attributed", source="Orphanet:79477/ntbt", source="DOID:0060833", source="Orphanet:79477"} +xref: icd11.foundation:1836541365 {source="MONDO:equivalentTo"} xref: MESH:C537302 {source="Orphanet:79477/e", source="MONDO:equivalentTo", source="DOID:0060833", source="Orphanet:79477"} xref: NCIT:C111814 {source="MONDO:equivalentTo"} xref: OMIM:607624 {source="Orphanet:79477/e", source="MONDO:equivalentTo", source="DOID:0060833", source="Orphanet:79477"} @@ -252953,6 +254818,7 @@ synonym: "CMT2I" EXACT ABBREVIATION [DOID:0110158, MONDO:Lexical, OMIM:607677, O xref: DOID:0110158 {source="MONDO:equivalentTo"} xref: GARD:9197 {source="Orphanet:99942"} xref: ICD10CM:G60.0 {source="Orphanet:99942", source="Orphanet:99942/attributed", source="Orphanet:99942/ntbt", source="DOID:0110158"} +xref: icd11.foundation:1858507973 {source="MONDO:equivalentTo"} xref: OMIM:607677 {source="Orphanet:99942", source="MONDO:equivalentTo", source="Orphanet:99942/e", source="DOID:0110158"} xref: Orphanet:99942 {source="OMIM:607677", source="MONDO:equivalentTo", source="DOID:0110158"} xref: SCTID:717013009 {source="MONDO:equivalentTo"} @@ -252990,6 +254856,7 @@ synonym: "HMSN1D" EXACT ABBREVIATION [DOID:0110150, OMIM:607678] xref: DOID:0110150 {source="MONDO:equivalentTo"} xref: GARD:9189 {source="Orphanet:101084"} xref: ICD10CM:G60.0 {source="DOID:0110150", source="Orphanet:101084/attributed", source="Orphanet:101084/ntbt", source="Orphanet:101084"} +xref: icd11.foundation:2062905967 {source="MONDO:equivalentTo"} xref: MESH:C537985 {source="Orphanet:101084/e", source="MONDO:equivalentTo", source="Orphanet:101084"} xref: OMIM:607678 {source="Orphanet:101084/e", source="DOID:0110150", source="MONDO:equivalentTo", source="Orphanet:101084"} xref: Orphanet:101084 {source="OMIM:607678", source="DOID:0110150", source="MONDO:equivalentTo"} @@ -253114,6 +254981,7 @@ synonym: "NEFL Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, xref: DOID:0110165 {source="MONDO:equivalentTo"} xref: GARD:9193 {source="Orphanet:99939"} xref: ICD10CM:G60.0 {source="DOID:0110165", source="Orphanet:99939", source="Orphanet:99939/attributed", source="Orphanet:99939/ntbt"} +xref: icd11.foundation:1476045360 {source="MONDO:equivalentTo"} xref: MESH:C537994 {source="MONDO:equivalentTo"} xref: NCIT:C134953 {source="MONDO:equivalentTo"} xref: OMIM:607684 {source="Orphanet:99939/e", source="MONDO:equivalentTo", source="DOID:0110165", source="Orphanet:99939"} @@ -253140,6 +255008,7 @@ synonym: "HES" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607685] synonym: "hypereosinophilic syndrome, idiopathic" RELATED [MONDO:Lexical, OMIM:607685] synonym: "hypereosinophilic syndrome, idiopathic, resistant to imatinib, isolated cases, somatic mutation" EXACT [OMIM:607685, OMIM:genemap2] xref: GARD:16625 {source="Orphanet:3260"} +xref: icd11.foundation:703101846 {source="MONDO:equivalentTo"} xref: OMIM:607685 {source="Orphanet:3260/e", source="MONDO:equivalentTo", source="Orphanet:3260"} xref: Orphanet:3260 {source="MONDO:equivalentTo", source="OMIM:607685"} xref: SCTID:423294001 {source="MONDO:equivalentTo"} @@ -253342,6 +255211,7 @@ synonym: "NEFL Charcot-Marie-Tooth disease type 1" EXACT [MONDO:design_pattern, xref: DOID:0110149 {source="MONDO:equivalentTo"} xref: GARD:9191 {source="Orphanet:101085"} xref: ICD10CM:G60.0 {source="DOID:0110149", source="Orphanet:101085/attributed", source="Orphanet:101085/ntbt", source="Orphanet:101085"} +xref: icd11.foundation:1160290076 {source="MONDO:equivalentTo"} xref: MESH:C537987 {source="MONDO:equivalentTo"} xref: OMIM:607734 {source="DOID:0110149", source="Orphanet:101085/e", source="MONDO:equivalentTo", source="Orphanet:101085"} xref: Orphanet:101085 {source="DOID:0110149", source="OMIM:607734", source="MONDO:equivalentTo"} @@ -253377,6 +255247,7 @@ synonym: "CMT2J" EXACT ABBREVIATION [DOID:0110157, MONDO:Lexical, OMIM:607736, O xref: DOID:0110157 {source="MONDO:equivalentTo"} xref: GARD:9198 {source="Orphanet:99943"} xref: ICD10CM:G60.0 {source="Orphanet:99943/attributed", source="Orphanet:99943/ntbt", source="Orphanet:99943", source="DOID:0110157"} +xref: icd11.foundation:1498789307 {source="MONDO:equivalentTo"} xref: MESH:C535417 {source="MONDO:equivalentTo"} xref: OMIM:607736 {source="Orphanet:99943", source="MONDO:equivalentTo", source="Orphanet:99943/e", source="DOID:0110157"} xref: Orphanet:99943 {source="OMIM:607736", source="MONDO:equivalentTo", source="DOID:0110157"} @@ -253483,6 +255354,7 @@ synonym: "acrocapitofemoral dysplasia" EXACT [MONDO:Lexical, OMIM:607778] xref: DOID:0050604 {source="MONDO:equivalentTo"} xref: GARD:10605 {source="Orphanet:63446"} xref: ICD10CM:Q78.8 {source="Orphanet:63446/attributed", source="Orphanet:63446/ntbt", source="Orphanet:63446"} +xref: icd11.foundation:687396416 {source="MONDO:equivalentTo"} xref: MESH:C564334 {source="MONDO:equivalentTo"} xref: OMIM:607778 {source="Orphanet:63446", source="MONDO:equivalentTo", source="Orphanet:63446/e", source="DOID:0050604"} xref: Orphanet:63446 {source="OMIM:607778", source="MONDO:equivalentTo"} @@ -253613,6 +255485,7 @@ synonym: "craniolenticulosutural dysplasia" EXACT [MONDO:Lexical, OMIM:607812] xref: DOID:0070307 {source="MONDO:equivalentTo"} xref: GARD:16647 {source="Orphanet:50814"} xref: ICD10CM:Q75.8 {source="Orphanet:50814/attributed", source="Orphanet:50814/ntbt", source="Orphanet:50814"} +xref: icd11.foundation:970423180 {source="MONDO:equivalentTo"} xref: MESH:C564332 {source="MONDO:equivalentTo"} xref: OMIM:607812 {source="Orphanet:50814/e", source="MONDO:equivalentTo", source="Orphanet:50814"} xref: Orphanet:50814 {source="OMIM:607812", source="MONDO:equivalentTo"} @@ -253794,6 +255667,7 @@ name: anxiety synonym: "anxiety" EXACT [OMIM:607834] synonym: "anxiety-related personality traits" EXACT [OMIM:607834, OMIM:genemap2] synonym: "harm avoidance" RELATED [OMIM:607834] +xref: icd11.foundation:2027043655 {source="MONDO:equivalentTo"} xref: MESH:D001007 {source="MONDO:equivalentTo"} xref: OMIM:607834 {source="MONDO:equivalentTo"} xref: UMLS:C0003467 {source="OMIM:607834", source="MONDO:notFoundInDiseaseSubset"} @@ -254011,6 +255885,7 @@ synonym: "tufted skin angioma" EXACT [NCIT:C4487] xref: GARD:425 {source="Orphanet:1063"} xref: HP:0012329 {source="MONDO:otherHierarchy"} xref: ICD10CM:D18.0 {source="Orphanet:1063/attributed", source="Orphanet:1063/ntbt", source="Orphanet:1063"} +xref: icd11.foundation:1994573217 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9161/0 {source="NCIT:C4487"} xref: MESH:C536924 {source="Orphanet:1063/e", source="MONDO:equivalentTo", source="Orphanet:1063"} @@ -254038,6 +255913,7 @@ synonym: "dipygus" EXACT [Orphanet:1756] synonym: "split notochord syndrome" EXACT [Orphanet:1756] xref: GARD:1164 {source="Orphanet:1756"} xref: ICD10CM:Q87.8 {source="Orphanet:1756", source="Orphanet:1756/attributed", source="Orphanet:1756/ntbt"} +xref: icd11.foundation:1949559803 {source="MONDO:equivalentTo"} xref: MESH:C564315 {source="MONDO:equivalentTo"} xref: OMIM:607864 {source="MONDO:equivalentTo", source="Orphanet:1756", source="Orphanet:1756/e"} xref: Orphanet:1756 {source="OMIM:607864", source="MONDO:equivalentTo"} @@ -254227,6 +256103,7 @@ synonym: "metastatic dermatofibrosarcoma protuberans (subtype)" RELATED [GARD:00 xref: DOID:3507 {source="MONDO:equivalentTo"} xref: GARD:9569 {source="Orphanet:31112"} xref: ICD10CM:C49.9 {source="Orphanet:31112", source="Orphanet:31112/attributed", source="Orphanet:31112/ntbt"} +xref: icd11.foundation:1579898301 {source="MONDO:equivalentTo"} xref: ICDO:8832/3 {source="NCIT:C4683"} xref: MedDRA:10057070 {source="Orphanet:31112", source="Orphanet:31112/e"} xref: MESH:C538219 {source="Orphanet:31112", source="Orphanet:31112/e"} @@ -254502,6 +256379,7 @@ synonym: "diaphanospondylodysostosis" EXACT CLINGEN_LABEL [OMIM:608022] synonym: "vertebral ossification, defect in, with nephrogenic rests" EXACT [OMIM:608022] xref: GARD:16674 {source="Orphanet:66637"} xref: ICD10CM:Q78.8 {source="Orphanet:66637", source="Orphanet:66637/attributed", source="Orphanet:66637/ntbt"} +xref: icd11.foundation:508093071 {source="MONDO:equivalentTo"} xref: MESH:C564305 {source="MONDO:equivalentTo"} xref: OMIM:608022 {source="MONDO:equivalentTo", source="Orphanet:66637", source="Orphanet:66637/e"} xref: Orphanet:66637 {source="MONDO:equivalentTo", source="OMIM:608022"} @@ -254540,6 +256418,7 @@ synonym: "pontocerebellar hypoplasia, type 3" RELATED [MONDO:Lexical, OMIM:60802 xref: DOID:0060272 {source="MONDO:equivalentTo"} xref: GARD:10708 {source="Orphanet:97249"} xref: ICD10CM:Q04.3 {source="Orphanet:97249/attributed", source="Orphanet:97249/ntbt", source="Orphanet:97249"} +xref: icd11.foundation:378477807 {source="MONDO:equivalentTo"} xref: MESH:C548072 {source="Orphanet:97249", source="MONDO:equivalentTo", source="Orphanet:97249/e", source="DOID:0060272"} xref: OMIM:608027 {source="Orphanet:97249", source="MONDO:equivalentTo", source="Orphanet:97249/e", source="DOID:0060272"} xref: Orphanet:97249 {source="MONDO:equivalentTo", source="DOID:0060272", source="OMIM:608027"} @@ -255092,6 +256971,7 @@ synonym: "EPRPDC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608105] synonym: "Re-ped-Wc" RELATED [OMIM:608105] xref: DOID:0111645 {source="MONDO:equivalentTo"} xref: GARD:17003 {source="Orphanet:163727"} +xref: icd11.foundation:1311096281 {source="MONDO:equivalentTo"} xref: MESH:C535499 {source="Orphanet:163727", source="MONDO:equivalentTo", source="Orphanet:163727/e"} xref: OMIM:608105 {source="Orphanet:163727", source="MONDO:equivalentTo", source="Orphanet:163727/e"} xref: Orphanet:163727 {source="MONDO:equivalentTo", source="OMIM:608105"} @@ -255150,6 +257030,7 @@ xref: DOID:5425 {source="MONDO:equivalentTo"} xref: GARD:16668 {source="Orphanet:64739"} xref: ICD10CM:N98.1 {source="Orphanet:64739/e", source="Orphanet:64739/specific", source="Orphanet:64739"} xref: icd11.foundation:1216664013 {source="MONDO:equivalentTo", source="Orphanet:64739"} +xref: icd11.foundation:1216664013 {source="MONDO:equivalentTo"} xref: ICD9:256.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10033266 {source="Orphanet:64739/e", source="Orphanet:64739"} xref: MESH:D016471 {source="Orphanet:64739/e", source="DOID:5425", source="MONDO:equivalentTo", source="Orphanet:64739"} @@ -255223,6 +257104,7 @@ synonym: "uniparental disomy, paternal, chromosome 14" RELATED [OMIM:608149] synonym: "UPD(14)pat" EXACT [Orphanet:96334] xref: GARD:5409 {source="Orphanet:96334"} xref: ICD10CM:Q99.8 {source="Orphanet:96334", source="Orphanet:96334/attributed", source="Orphanet:96334/ntbt"} +xref: icd11.foundation:1835121942 {source="MONDO:equivalentTo"} xref: MESH:C536471 {source="Orphanet:96334", source="MONDO:equivalentTo", source="Orphanet:96334/e"} xref: OMIM:608149 {source="MONDO:equivalentTo"} xref: Orphanet:254519 {source="OMIM:608149"} @@ -255325,6 +257207,7 @@ synonym: "pseudo-vitelliform macular dystrophy" EXACT [Orphanet:99000] synonym: "VMD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608161] xref: GARD:10909 {source="Orphanet:99000"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:99000/attributed", source="Orphanet:99000/ntbt", source="Orphanet:99000"} +xref: icd11.foundation:558806410 {source="MONDO:equivalentTo"} xref: Orphanet:99000 {source="OMIM:608161", source="MONDO:equivalentTo"} xref: SCTID:232049001 {source="MONDO:equivalentTo"} xref: UMLS:C1842914 {source="MONDO:equivalentTo"} @@ -255401,6 +257284,7 @@ synonym: "synpolydactyly, Debeer type" EXACT [Orphanet:295197] xref: GARD:17359 {source="Orphanet:295197"} xref: ICD10CM:Q70.0 {source="Orphanet:295197/nd", source="Orphanet:295197", source="Orphanet:295197/attributed"} xref: ICD10CM:Q70.2 {source="Orphanet:295197/nd", source="Orphanet:295197", source="Orphanet:295197/attributed"} +xref: icd11.foundation:1370014661 {source="MONDO:equivalentTo"} xref: MESH:C564278 {source="MONDO:equivalentTo"} xref: OMIM:608180 {source="Orphanet:295197", source="MONDO:equivalentTo", source="Orphanet:295197/e"} xref: Orphanet:295197 {source="OMIM:608180", source="MONDO:equivalentTo"} @@ -255458,6 +257342,7 @@ synonym: "tropical calcific pancreatitis" RELATED [OMIM:608189] xref: GARD:16946 {source="Orphanet:103918"} xref: ICD10CM:K86.1 {source="Orphanet:103918/ntbt", source="Orphanet:103918"} xref: icd11.foundation:1645607956 {source="MONDO:equivalentTo", source="Orphanet:103918"} +xref: icd11.foundation:1645607956 {source="MONDO:equivalentTo"} xref: MESH:C564276 {source="MONDO:equivalentTo"} xref: OMIM:608189 {source="Orphanet:103918/e", source="MONDO:equivalentTo", source="Orphanet:103918"} xref: Orphanet:103918 {source="MONDO:equivalentTo", source="OMIM:608189"} @@ -255507,6 +257392,7 @@ xref: DOID:0112064 {source="MONDO:equivalentTo"} xref: GARD:17087 {source="Orphanet:183707"} xref: GARD:18299 {source="OMIM:608203"} xref: ICD10CM:D71 {source="Orphanet:183707/attributed", source="Orphanet:183707/ntbt", source="Orphanet:183707"} +xref: icd11.foundation:1459690929 {source="MONDO:equivalentTo"} xref: icd11.foundation:1459690929 {source="Orphanet:183707", source="MONDO:equivalentTo"} xref: MESH:C564275 {source="MONDO:equivalentTo"} xref: OMIM:608203 {source="Orphanet:183707", source="MONDO:equivalentTo", source="Orphanet:183707/e"} @@ -255540,6 +257426,7 @@ xref: ICD10CM:B55.0 {source="Orphanet:507", source="Orphanet:507/btnt"} xref: ICD10CM:B55.1 {source="Orphanet:507", source="Orphanet:507/btnt"} xref: ICD10CM:B55.2 {source="Orphanet:507", source="Orphanet:507/btnt"} xref: ICD10CM:B55.9 {source="DOID:9065", source="Orphanet:507", source="Orphanet:507/btnt"} +xref: icd11.foundation:1082373067 {source="MONDO:equivalentTo"} xref: ICD9:085 {source="DOID:9065", source="EFO:0005044"} xref: ICD9:085.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9065"} xref: MedDRA:10024198 {source="Orphanet:507", source="Orphanet:507/e"} @@ -255837,6 +257724,7 @@ synonym: "simple phobia" EXACT [DOID:599] xref: DOID:599 {source="MONDO:equivalentTo"} xref: EFO:1001918 {source="MONDO:equivalentTo"} xref: ICD10CM:F40.2 {source="DOID:599"} +xref: icd11.foundation:239513569 {source="MONDO:equivalentTo"} xref: ICD9:300.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562465 {source="DOID:599", source="MONDO:equivalentTo"} xref: NCIT:C35284 {source="DOID:599", source="MONDO:equivalentTo"} @@ -256254,6 +258142,7 @@ synonym: "spondyloepiphyseal dysplasia, Kimberley type" EXACT [OMIM:608361] xref: DOID:0112282 {source="MONDO:equivalentTo"} xref: GARD:16814 {source="Orphanet:93283"} xref: ICD10CM:Q77.7 {source="Orphanet:93283/attributed", source="Orphanet:93283/ntbt", source="Orphanet:93283"} +xref: icd11.foundation:485470320 {source="MONDO:equivalentTo"} xref: MESH:C564252 {source="MONDO:equivalentTo"} xref: OMIM:608361 {source="Orphanet:93283/e", source="MONDO:equivalentTo", source="Orphanet:93283"} xref: Orphanet:93283 {source="MONDO:equivalentTo", source="OMIM:608361"} @@ -256544,6 +258433,7 @@ synonym: "prolonged electroretinal response suppression" EXACT [DOID:0050335, MO xref: DOID:0050335 {source="MONDO:equivalentTo"} xref: GARD:12299 {source="Orphanet:75374"} xref: ICD10CM:H53.8 {source="Orphanet:75374/attributed", source="Orphanet:75374/ntbt", source="Orphanet:75374"} +xref: icd11.foundation:1497247503 {source="MONDO:equivalentTo"} xref: ICD9:368.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C564243 {source="DOID:0050335", source="MONDO:equivalentTo"} xref: OMIMPS:608415 {source="MONDO:equivalentTo"} @@ -257129,6 +259019,7 @@ synonym: "sick sinus syndrome 1, autosomal recessive" RELATED [MONDO:Lexical, OM synonym: "SSS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608567] xref: GARD:13663 {source="Orphanet:166282"} xref: ICD10CM:I49.5 {source="Orphanet:166282/attributed", source="Orphanet:166282/ntbt", source="Orphanet:166282"} +xref: icd11.foundation:1495462959 {source="MONDO:equivalentTo"} xref: MedDRA:10040639 {source="Orphanet:166282/e", source="Orphanet:166282"} xref: MESH:C563907 {source="MONDO:equivalentTo"} xref: MESH:D012804 {source="Orphanet:166282/e", source="Orphanet:166282"} @@ -257373,6 +259264,7 @@ synonym: "mandibuloacral dysplasia with type B lipodystrophy" EXACT [MONDO:Lexic xref: DOID:0081129 {source="MONDO:equivalentTo"} xref: GARD:9989 {source="Orphanet:90154"} xref: ICD10CM:Q87.5 {source="Orphanet:90154/attributed", source="Orphanet:90154/ntbt", source="Orphanet:90154"} +xref: icd11.foundation:1199517264 {source="MONDO:equivalentTo"} xref: MESH:C535706 {source="Orphanet:90154", source="MONDO:equivalentTo", source="Orphanet:90154/e"} xref: OMIM:608612 {source="Orphanet:90154", source="MONDO:equivalentTo", source="Orphanet:90154/e"} xref: Orphanet:2457 {source="OMIM:608612"} @@ -257611,6 +259503,7 @@ synonym: "Dopa decarboxylase deficiency" RELATED [OMIM:608643] xref: DOID:0090123 {source="MONDO:equivalentTo"} xref: GARD:770 {source="Orphanet:35708"} xref: ICD10CM:G24.8 {source="DOID:0090123", source="Orphanet:35708", source="Orphanet:35708/attributed", source="Orphanet:35708/ntbt"} +xref: icd11.foundation:1134258245 {source="MONDO:equivalentTo"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537437 {source="MONDO:equivalentTo"} xref: NCIT:C142085 {source="MONDO:equivalentTo"} @@ -257983,6 +259876,7 @@ synonym: "spinocerebellar ataxia with spasmodic cough" RELATED [OMIM:608687] xref: DOID:0050971 {source="MONDO:equivalentTo"} xref: GARD:9997 {source="Orphanet:101110"} xref: ICD10CM:G11.2 {source="Orphanet:101110", source="Orphanet:101110/attributed", source="Orphanet:101110/ntbt"} +xref: icd11.foundation:960716995 {source="MONDO:equivalentTo"} xref: MESH:C537199 {source="Orphanet:101110", source="MONDO:equivalentTo", source="Orphanet:101110/e"} xref: OMIM:608687 {source="Orphanet:101110", source="DOID:0050971", source="MONDO:equivalentTo", source="Orphanet:101110/e"} xref: Orphanet:101110 {source="MONDO:equivalentTo", source="OMIM:608687"} @@ -258087,6 +259981,7 @@ synonym: "spinocerebellar ataxia 25" RELATED [MONDO:Lexical, OMIM:608703] xref: DOID:0050974 {source="MONDO:equivalentTo"} xref: GARD:9996 {source="Orphanet:101111"} xref: ICD10CM:G11.8 {source="Orphanet:101111", source="Orphanet:101111/attributed", source="Orphanet:101111/ntbt"} +xref: icd11.foundation:8347192 {source="MONDO:equivalentTo"} xref: MESH:C537202 {source="Orphanet:101111", source="MONDO:equivalentTo", source="Orphanet:101111/e"} xref: OMIM:608703 {source="Orphanet:101111", source="MONDO:equivalentTo", source="Orphanet:101111/e", source="DOID:0050974"} xref: Orphanet:101111 {source="OMIM:608703", source="MONDO:equivalentTo"} @@ -258119,6 +260014,7 @@ synonym: "susceptibility to partial acquired lipodystrophy" RELATED [OMIM:608709 xref: GARD:10509 {source="Orphanet:79087"} xref: ICD10CM:E88.1 {source="Orphanet:79087", source="Orphanet:79087/ntbt"} xref: icd11.foundation:2042663302 {source="MONDO:equivalentTo", source="Orphanet:79087"} +xref: icd11.foundation:2042663302 {source="MONDO:equivalentTo"} xref: MESH:C562448 {source="MONDO:equivalentTo"} xref: NCIT:C129723 {source="MONDO:equivalentTo"} xref: Orphanet:79087 {source="MONDO:equivalentTo", source="OMIM:608709"} @@ -258157,6 +260053,7 @@ xref: EFO:0005297 {source="MONDO:equivalentTo"} xref: GARD:7880 {source="Orphanet:900"} xref: ICD10CM:M31.3 {source="Orphanet:900", source="MONDO:equivalentTo", source="Orphanet:900/e", source="DOID:12132"} xref: ICD10CM:M31.30 {source="DOID:12132"} +xref: icd11.foundation:1020056159 {source="MONDO:equivalentTo"} xref: icd11.foundation:1020056159 {source="Orphanet:900", source="MONDO:equivalentTo"} xref: ICD9:446.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12132", source="EFO:0005297"} xref: MedDRA:10047888 {source="Orphanet:900", source="Orphanet:900/e"} @@ -258232,6 +260129,7 @@ synonym: "spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type" EXAC synonym: "spondyloepimetaphyseal dysplasia, matrilin-3 related" RELATED [OMIM:608728] xref: GARD:10611 {source="Orphanet:156728"} xref: ICD10CM:Q77.7 {source="Orphanet:156728/attributed", source="Orphanet:156728/ntbt", source="Orphanet:156728"} +xref: icd11.foundation:1983063881 {source="MONDO:equivalentTo"} xref: MESH:C563869 {source="MONDO:equivalentTo"} xref: OMIM:608728 {source="Orphanet:156728/e", source="MONDO:equivalentTo", source="Orphanet:156728"} xref: Orphanet:156728 {source="MONDO:equivalentTo", source="OMIM:608728"} @@ -258398,6 +260296,7 @@ synonym: "spinocerebellar ataxia type 8" EXACT [MONDORULE:1, OMIM:608768] xref: DOID:0050959 {source="MONDO:equivalentTo"} xref: GARD:4956 {source="Orphanet:98760"} xref: ICD10CM:G11.2 {source="Orphanet:98760/attributed", source="Orphanet:98760/ntbt", source="Orphanet:98760"} +xref: icd11.foundation:1735913595 {source="MONDO:equivalentTo"} xref: MESH:C537307 {source="Orphanet:98760/e", source="Orphanet:98760"} xref: OMIM:608768 {source="Orphanet:98760/e", source="MONDO:equivalentTo", source="DOID:0050959", source="Orphanet:98760"} xref: Orphanet:98760 {source="OMIM:608768", source="MONDO:equivalentTo"} @@ -258519,6 +260418,7 @@ synonym: "PDHPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608782] synonym: "pyruvate dehydrogenase phosphatase deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:608782] xref: GARD:9888 {source="Orphanet:79246"} xref: ICD10CM:E74.4 {source="Orphanet:79246/attributed", source="Orphanet:79246/ntbt", source="Orphanet:79246"} +xref: icd11.foundation:1709497558 {source="MONDO:equivalentTo"} xref: MESH:C536258 {source="Orphanet:79246/e", source="MONDO:equivalentTo", source="Orphanet:79246"} xref: OMIM:608782 {source="Orphanet:79246/e", source="MONDO:equivalentTo", source="Orphanet:79246"} xref: Orphanet:765 {source="OMIM:608782"} @@ -258685,6 +260585,7 @@ synonym: "osteonecrosis of femoral head" RELATED [OMIM:608805] synonym: "primary avascular necrosis of the femoral head" RELATED [GARD:0010914] xref: GARD:10914 {source="Orphanet:86820"} xref: ICD10CM:M87.8 {source="Orphanet:86820/attributed", source="Orphanet:86820/ntbt", source="Orphanet:86820"} +xref: icd11.foundation:1216860745 {source="MONDO:equivalentTo"} xref: MESH:D005271 {source="MONDO:equivalentTo"} xref: NCIT:C35480 {source="MONDO:equivalentTo"} xref: OMIMPS:608805 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} @@ -259062,6 +260963,7 @@ synonym: "stomatin-deficient cryohydrocytosis" EXACT [Orphanet:168577] synonym: "stomatin-deficient cryohydrocytosis with neurologic defects" RELATED [OMIM:608885] xref: GARD:17036 {source="Orphanet:168577"} xref: ICD10CM:D58.8 {source="Orphanet:168577/attributed", source="Orphanet:168577/ntbt", source="Orphanet:168577"} +xref: icd11.foundation:1459095719 {source="MONDO:equivalentTo"} xref: MESH:C563840 {source="MONDO:equivalentTo"} xref: OMIM:608885 {source="Orphanet:168577", source="MONDO:equivalentTo", source="Orphanet:168577/e"} xref: Orphanet:168577 {source="MONDO:equivalentTo", source="OMIM:608885"} @@ -259314,6 +261216,7 @@ synonym: "posterior choanal atresia" EXACT [DOID:9574] xref: DOID:9574 {source="MONDO:equivalentTo"} xref: GARD:16951 {source="Orphanet:137914"} xref: ICD10CM:Q30.0 {source="MONDO:equivalentTo", source="Orphanet:137914", source="DOID:9574", source="Orphanet:137914/e"} +xref: icd11.foundation:2099486655 {source="MONDO:equivalentTo"} xref: icd11.foundation:2099486655 {source="MONDO:equivalentTo", source="Orphanet:137914"} xref: ICD9:748.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9574"} xref: MedDRA:10008587 {source="Orphanet:137914", source="Orphanet:137914/e"} @@ -259542,6 +261445,7 @@ synonym: "Meacham-Winn-Culler syndrome" EXACT [Orphanet:3097] synonym: "Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome" EXACT [Orphanet:3097] xref: GARD:3432 {source="Orphanet:3097"} xref: ICD10CM:Q87.8 {source="Orphanet:3097/attributed", source="Orphanet:3097/ntbt", source="Orphanet:3097"} +xref: icd11.foundation:1307620543 {source="MONDO:equivalentTo"} xref: MESH:C538162 {source="MONDO:equivalentTo"} xref: OMIM:608978 {source="Orphanet:3097/e", source="MONDO:equivalentTo", source="Orphanet:3097"} xref: Orphanet:3097 {source="OMIM:608978", source="MONDO:equivalentTo"} @@ -259709,6 +261613,7 @@ synonym: "trifunctional Protein deficiency with myopathy and neuropathy" RELATED xref: DOID:0111277 {source="MONDO:equivalentTo"} xref: GARD:3684 {source="Orphanet:746"} xref: ICD10CM:G71.3 {source="Orphanet:746/attributed", source="Orphanet:746/ntbt", source="Orphanet:746"} +xref: icd11.foundation:1018083832 {source="MONDO:equivalentTo"} xref: ICD9:277.85 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C566945 {source="Orphanet:746", source="MONDO:equivalentTo", source="Orphanet:746/e", source="https://github.com/monarch-initiative/mondo/issues/2212"} xref: NCIT:C98991 {source="MONDO:equivalentTo"} @@ -259745,6 +261650,7 @@ synonym: "long-chain 3-OH acyl-CoA dehydrogenase deficiency" RELATED [GARD:00068 synonym: "trifunctional protein deficiency type 1" RELATED [GARD:0006867] xref: GARD:6867 {source="Orphanet:5"} xref: ICD10CM:E71.3 {source="Orphanet:5", source="Orphanet:5/attributed", source="Orphanet:5/ntbt"} +xref: icd11.foundation:760613381 {source="MONDO:equivalentTo"} xref: NCIT:C129929 {source="MONDO:equivalentTo"} xref: OMIM:609016 {source="Orphanet:5", source="MONDO:equivalentTo", source="Orphanet:5/e"} xref: Orphanet:5 {source="MONDO:equivalentTo", source="OMIM:609016"} @@ -259970,6 +261876,7 @@ synonym: "Pierson syndrome" EXACT [OMIM:609049] xref: DOID:0060852 {source="MONDO:equivalentTo"} xref: GARD:9420 {source="Orphanet:2670"} xref: ICD10CM:N04.8 {source="DOID:0060852", source="Orphanet:2670/attributed", source="Orphanet:2670/ntbt", source="Orphanet:2670"} +xref: icd11.foundation:555082533 {source="MONDO:equivalentTo"} xref: MESH:C537185 {source="Orphanet:2670/e", source="MONDO:equivalentTo", source="DOID:0060852", source="Orphanet:2670"} xref: NCIT:C128145 {source="MONDO:equivalentTo"} xref: OMIM:609049 {source="Orphanet:2670/e", source="MONDO:equivalentTo", source="DOID:0060852", source="Orphanet:2670"} @@ -259996,6 +261903,7 @@ synonym: "spondylometaphyseal dysplasia, type A4" RELATED [OMIM:609052] xref: DOID:0112301 {source="MONDO:equivalentTo"} xref: GARD:458 {source="Orphanet:168555"} xref: ICD10CM:Q77.8 {source="Orphanet:168555/attributed", source="Orphanet:168555/ntbt", source="Orphanet:168555"} +xref: icd11.foundation:696316924 {source="MONDO:equivalentTo"} xref: MESH:C563803 {source="MONDO:equivalentTo"} xref: OMIM:609052 {source="Orphanet:168555", source="MONDO:equivalentTo", source="Orphanet:168555/e"} xref: Orphanet:168555 {source="OMIM:609052", source="MONDO:equivalentTo"} @@ -260545,6 +262453,7 @@ synonym: "ichthyosis variegata" EXACT [OMIM:609165, Orphanet:281190] synonym: "ichthyosis with confetti" EXACT [OMIM:609165, Orphanet:281190] synonym: "IWC" EXACT ABBREVIATION [Orphanet:281190] xref: GARD:17305 {source="Orphanet:281190"} +xref: icd11.foundation:565254051 {source="MONDO:equivalentTo"} xref: MESH:C563781 {source="MONDO:equivalentTo"} xref: OMIM:609165 {source="Orphanet:281190/e", source="MONDO:equivalentTo", source="Orphanet:281190"} xref: Orphanet:281190 {source="MONDO:equivalentTo", source="OMIM:609165"} @@ -260882,6 +262791,7 @@ synonym: "hypomelanosis with no immunologic or neurologic manifestations" RELATE xref: DOID:0060834 {source="MONDO:equivalentTo"} xref: GARD:9715 {source="Orphanet:79478"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:79478/attributed", source="Orphanet:79478/ntbt", source="DOID:0060834", source="Orphanet:79478"} +xref: icd11.foundation:1959052636 {source="MONDO:equivalentTo"} xref: MESH:C537303 {source="Orphanet:79478/e", source="MONDO:equivalentTo", source="DOID:0060834", source="Orphanet:79478"} xref: OMIM:609227 {source="Orphanet:79478/e", source="MONDO:equivalentTo", source="DOID:0060834", source="Orphanet:79478"} xref: Orphanet:381 {source="OMIM:609227"} @@ -260919,6 +262829,7 @@ synonym: "Schindler disease, type III" EXACT [OMIM:609241, OMIM:genemap2] xref: DOID:0112318 {source="MONDO:equivalentTo"} xref: GARD:116 {source="Orphanet:79279"} xref: ICD10CM:E77.1 {source="Orphanet:79279/attributed", source="Orphanet:79279/ntbt", source="Orphanet:79279"} +xref: icd11.foundation:1058486825 {source="MONDO:equivalentTo"} xref: OMIM:609241 {source="Orphanet:79279/e", source="GARD:0000116", source="MONDO:equivalentTo", source="GARD:0003903", source="Orphanet:79279"} xref: Orphanet:3137 {source="OMIM:609241"} xref: Orphanet:79279 {source="GARD:0000116", source="MONDO:equivalentTo", source="OMIM:609241"} @@ -260951,6 +262862,7 @@ synonym: "Schindler disease, type 2" RELATED [OMIM:609242] xref: DOID:0112319 {source="MONDO:equivalentTo"} xref: GARD:9161 {source="Orphanet:79280"} xref: ICD10CM:E77.1 {source="Orphanet:79280/attributed", source="Orphanet:79280/ntbt", source="Orphanet:79280"} +xref: icd11.foundation:266505438 {source="MONDO:equivalentTo"} xref: OMIM:609242 {source="Orphanet:79280", source="MONDO:equivalentTo", source="Orphanet:79280/e"} xref: Orphanet:3137 {source="OMIM:609242"} xref: Orphanet:79280 {source="MONDO:equivalentTo", source="OMIM:609242"} @@ -261094,6 +263006,7 @@ synonym: "MFN2 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, xref: DOID:0110155 {source="MONDO:equivalentTo"} xref: GARD:16925 {source="Orphanet:99947"} xref: ICD10CM:G60.0 {source="Orphanet:99947", source="Orphanet:99947/attributed", source="Orphanet:99947/ntbt", source="DOID:0110155"} +xref: icd11.foundation:1274363794 {source="MONDO:equivalentTo"} xref: MESH:C563757 {source="MONDO:equivalentTo"} xref: NCIT:C150646 {source="MONDO:equivalentTo"} xref: OMIM:609260 {source="MONDO:equivalentTo", source="Orphanet:99947", source="DOID:0110155", source="Orphanet:99947/e"} @@ -261403,6 +263316,7 @@ synonym: "spinocerebellar ataxia type 26" EXACT [MONDORULE:2, OMIM:609306] xref: DOID:0050975 {source="MONDO:equivalentTo"} xref: GARD:9995 {source="Orphanet:101112"} xref: ICD10CM:G11.2 {source="Orphanet:101112/attributed", source="Orphanet:101112/ntbt", source="Orphanet:101112"} +xref: icd11.foundation:586976339 {source="MONDO:equivalentTo"} xref: MESH:C537203 {source="Orphanet:101112", source="MONDO:equivalentTo", source="Orphanet:101112/e"} xref: OMIM:609306 {source="Orphanet:101112", source="DOID:0050975", source="MONDO:equivalentTo", source="Orphanet:101112/e"} xref: Orphanet:101112 {source="OMIM:609306", source="MONDO:equivalentTo"} @@ -261428,6 +263342,7 @@ synonym: "spinocerebellar ataxia type 27" EXACT [MONDORULE:2, OMIM:609307] xref: DOID:0050976 {source="MONDO:equivalentTo"} xref: GARD:9963 {source="Orphanet:98764"} xref: ICD10CM:G11.8 {source="Orphanet:98764/attributed", source="Orphanet:98764/ntbt", source="Orphanet:98764"} +xref: icd11.foundation:1408059647 {source="MONDO:equivalentTo"} xref: MESH:C537204 {source="Orphanet:98764", source="MONDO:equivalentTo", source="Orphanet:98764/e"} xref: OMIM:609307 {source="Orphanet:98764", source="MONDO:equivalentObsolete", source="DOID:0050976", source="Orphanet:98764/e"} xref: Orphanet:98764 {source="OMIM:609307", source="MONDO:equivalentTo"} @@ -261531,6 +263446,7 @@ synonym: "FGD4 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, xref: DOID:0110192 {source="MONDO:equivalentTo"} xref: GARD:12442 {source="Orphanet:99954"} xref: ICD10CM:G60.0 {source="Orphanet:99954/attributed", source="Orphanet:99954/ntbt", source="DOID:0110192", source="Orphanet:99954"} +xref: icd11.foundation:214411126 {source="MONDO:equivalentTo"} xref: MESH:C563740 {source="MONDO:equivalentTo"} xref: OMIM:609311 {source="DOID:0110192", source="Orphanet:99954", source="MONDO:equivalentTo", source="Orphanet:99954/e"} xref: Orphanet:99954 {source="DOID:0110192", source="MONDO:equivalentTo", source="OMIM:609311"} @@ -261971,6 +263887,7 @@ synonym: "fibrosis of extraocular muscles, congenital, with ulnar hand anomalies synonym: "Tukel syndrome" EXACT [OMIM:609428] xref: DOID:0081021 {source="MONDO:equivalentTo"} xref: GARD:9814 {source="OMIM:609428"} +xref: icd11.foundation:2132105652 {source="MONDO:equivalentTo"} xref: MESH:C536925 {source="MONDO:equivalentTo"} xref: OMIM:609428 {source="MONDO:equivalentTo"} xref: Orphanet:45358 {source="OMIM:609428"} @@ -262535,6 +264452,7 @@ synonym: "familial lipomyelomeningocele" RELATED [GARD:0010053] synonym: "lipomyelomeningocele" EXACT [OMIM:609537] xref: GARD:10053 {source="Orphanet:268835"} xref: ICD10CM:Q05.9 {source="Orphanet:268835", source="Orphanet:268835/attributed", source="Orphanet:268835/ntbt"} +xref: icd11.foundation:1919145296 {source="MONDO:equivalentTo"} xref: ICD9:214.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537030 {source="MONDO:equivalentTo"} xref: OMIM:609537 {source="MONDO:equivalentTo"} @@ -262646,6 +264564,7 @@ xref: DOID:0080120 {source="MONDO:equivalentTo"} xref: GARD:17228 {source="Orphanet:254875"} xref: GARD:18369 {source="OMIM:609560"} xref: ICD10CM:G71.3 {source="Orphanet:254875", source="Orphanet:254875/attributed", source="Orphanet:254875/ntbt"} +xref: icd11.foundation:294556832 {source="MONDO:equivalentTo"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563698 {source="MONDO:equivalentTo"} xref: OMIM:609560 {source="DOID:0080120", source="MONDO:equivalentTo", source="Orphanet:254875", source="Orphanet:254875/e"} @@ -262744,6 +264663,7 @@ synonym: "scaphocephaly, maxillary retrusion, and mental retardation" RELATED DE synonym: "scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome" EXACT [Orphanet:168624] xref: GARD:3426 {source="Orphanet:168624"} xref: ICD10CM:Q87.0 {source="Orphanet:168624", source="Orphanet:168624/attributed", source="Orphanet:168624/ntbt"} +xref: icd11.foundation:512057922 {source="MONDO:equivalentTo"} xref: MESH:C566511 {source="MONDO:equivalentTo"} xref: OMIM:609579 {source="MONDO:equivalentTo", source="Orphanet:168624", source="Orphanet:168624/e"} xref: Orphanet:168624 {source="MONDO:equivalentTo", source="OMIM:609579"} @@ -262770,6 +264690,7 @@ xref: GARD:10169 {source="Orphanet:220497"} xref: GARD:15465 {source="OMIM:609583"} xref: ICD10CM:Q04.3 {source="Orphanet:220497/attributed", source="Orphanet:220497/ntbt", source="Orphanet:220497"} xref: ICD10CM:Q61.5 {source="Orphanet:220497/attributed", source="Orphanet:220497/ntbt", source="Orphanet:220497"} +xref: icd11.foundation:1419767028 {source="MONDO:equivalentTo"} xref: MESH:C536296 {source="MONDO:equivalentTo"} xref: NCIT:C74997 {source="MONDO:equivalentTo"} xref: OMIM:609583 {source="DOID:0110999", source="Orphanet:220497", source="MONDO:equivalentTo", source="GARD:0010169", source="Orphanet:220497/e"} @@ -262950,6 +264871,7 @@ synonym: "MAJEED syndrome" RELATED [OMIM:609628] synonym: "Majeed syndrome" EXACT CLINGEN_LABEL [OMIM:609628] synonym: "MJDS" RELATED ABBREVIATION [OMIM:609628] xref: GARD:10088 {source="Orphanet:77297"} +xref: icd11.foundation:1316564349 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10072223 {source="Orphanet:77297/e", source="Orphanet:77297"} xref: MESH:C537839 {source="Orphanet:77297/e", source="MONDO:equivalentTo", source="Orphanet:77297"} @@ -263215,6 +265137,7 @@ synonym: "Pilar cyst" RELATED [OMIM:609649] synonym: "trichilemmal cyst 1" RELATED [MONDO:Lexical, OMIM:609649] synonym: "Tricholemmal cyst" RELATED [OMIM:609649] synonym: "TRICY1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609649] +xref: icd11.foundation:150930710 {source="MONDO:equivalentTo"} xref: OMIM:609649 {source="MONDO:equivalentTo"} xref: SCTID:254677004 {source="MONDO:equivalentTo"} xref: UMLS:C2266788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -263240,6 +265163,7 @@ subset: rare synonym: "singh-Williams-McAlister syndrome" EXACT [Orphanet:50809] synonym: "talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals" RELATED [OMIM:609655] xref: GARD:10061 {source="Orphanet:50809"} +xref: icd11.foundation:1276091756 {source="MONDO:equivalentTo"} xref: MESH:C536894 {source="MONDO:equivalentTo"} xref: OMIM:609655 {source="Orphanet:50809", source="MONDO:equivalentTo", source="Orphanet:50809/e"} xref: Orphanet:50809 {source="MONDO:equivalentTo", source="OMIM:609655"} @@ -263337,6 +265261,7 @@ synonym: "POMC deficiency" EXACT [Orphanet:71526] synonym: "PROOPIOMELANOCORTIN deficiency" RELATED [OMIM:609734] xref: GARD:10823 {source="Orphanet:71526"} xref: ICD10CM:E66.8 {source="Orphanet:71526", source="Orphanet:71526/attributed", source="Orphanet:71526/ntbt"} +xref: icd11.foundation:530374033 {source="MONDO:equivalentTo"} xref: ICD9:255.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C565726 {source="MONDO:equivalentTo"} xref: NORD:110450 {source="MONDO:NORD"} @@ -263711,6 +265636,7 @@ synonym: "Zygodactyly, Weidenreich type" EXACT [Orphanet:295187] xref: DOID:0111820 {source="MONDO:equivalentTo"} xref: GARD:17357 {source="Orphanet:295187"} xref: ICD10CM:Q70.3 {source="Orphanet:295187/attributed", source="Orphanet:295187/ntbt", source="Orphanet:295187"} +xref: icd11.foundation:1671375617 {source="MONDO:equivalentTo"} xref: MESH:C565223 {source="MONDO:equivalentTo"} xref: OMIM:609815 {source="Orphanet:295187", source="MONDO:equivalentTo", source="Orphanet:295187/e"} xref: Orphanet:295187 {source="OMIM:609815", source="MONDO:equivalentTo"} @@ -264563,6 +266489,7 @@ synonym: "inherited glutamine synthetase deficiency" EXACT [Orphanet:71278] synonym: "inherited GS deficiency" EXACT [Orphanet:71278] xref: GARD:9848 {source="Orphanet:71278"} xref: ICD10CM:E72.8 {source="Orphanet:71278/attributed", source="Orphanet:71278/ntbt", source="Orphanet:71278"} +xref: icd11.foundation:238162640 {source="MONDO:equivalentTo"} xref: MESH:C536832 {source="MONDO:equivalentTo"} xref: OMIM:610015 {source="Orphanet:71278", source="MONDO:equivalentTo", source="Orphanet:71278/e"} xref: Orphanet:71278 {source="MONDO:equivalentTo", source="OMIM:610015"} @@ -264656,6 +266583,7 @@ synonym: "monocarboxylate transporter 1 hyperinsulinism" EXACT [NCIT:C131839] xref: DOID:0070214 {source="MONDO:equivalentTo"} xref: GARD:9932 {source="Orphanet:165991"} xref: ICD10CM:E16.1 {source="Orphanet:165991", source="Orphanet:165991/attributed", source="Orphanet:165991/ntbt"} +xref: icd11.foundation:999935139 {source="MONDO:equivalentTo"} xref: MESH:C538376 {source="MONDO:equivalentTo"} xref: NCIT:C131839 {source="MONDO:equivalentTo"} xref: OMIM:610021 {source="Orphanet:165991", source="MONDO:equivalentTo", source="Orphanet:165991/e"} @@ -264788,6 +266716,7 @@ synonym: "Witschel dystrophy" EXACT [Orphanet:101068] xref: DOID:0060445 {source="MONDO:equivalentTo"} xref: GARD:16943 {source="Orphanet:101068"} xref: ICD10CM:H18.5 {source="Orphanet:101068/attributed", source="Orphanet:101068/ntbt", source="Orphanet:101068", source="DOID:0060445"} +xref: icd11.foundation:1796933876 {source="MONDO:equivalentTo"} xref: ICD9:371.56 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C566452 {source="MONDO:equivalentTo", source="DOID:0060445"} xref: OMIM:610048 {source="Orphanet:101068", source="MONDO:equivalentTo", source="DOID:0060445", source="Orphanet:101068/e"} @@ -264904,6 +266833,7 @@ xref: DOID:0111329 {source="MONDO:equivalentTo"} xref: GARD:10730 {source="Orphanet:79096"} xref: ICD10CM:G40.8 {source="Orphanet:79096", source="Orphanet:79096/attributed", source="Orphanet:79096/ntbt"} xref: icd11.foundation:1632334328 {source="MONDO:equivalentTo", source="Orphanet:79096", source="https://orcid.org/0000-0001-5208-3432"} +xref: icd11.foundation:604024463 {source="MONDO:equivalentTo"} xref: MESH:C566449 {source="MONDO:equivalentTo"} xref: OMIM:610090 {source="MONDO:equivalentTo", source="Orphanet:79096", source="Orphanet:79096/e"} xref: Orphanet:79096 {source="MONDO:equivalentTo", source="OMIM:610090"} @@ -265179,6 +267109,7 @@ synonym: "Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndro synonym: "heart-hand syndrome, Slovenian type" EXACT [OMIM:610140] xref: GARD:9846 {source="Orphanet:168796"} xref: ICD10CM:Q87.2 {source="Orphanet:168796", source="Orphanet:168796/attributed", source="Orphanet:168796/ntbt"} +xref: icd11.foundation:1814304618 {source="MONDO:equivalentTo"} xref: MESH:C535852 {source="Orphanet:168796", source="MONDO:equivalentTo", source="Orphanet:168796/e"} xref: OMIM:610140 {source="Orphanet:168796", source="MONDO:equivalentTo", source="Orphanet:168796/e"} xref: Orphanet:168796 {source="MONDO:equivalentTo", source="OMIM:610140"} @@ -265336,6 +267267,7 @@ synonym: "mental retardation-truncal obesity-retinal dystrophy-micropenis syndro synonym: "MORM syndrome" EXACT [OMIM:610156] synonym: "MORMS" RELATED DEPRECATED [MONDO:Lexical, OMIM:610156] xref: GARD:10121 {source="Orphanet:75858"} +xref: icd11.foundation:1027545274 {source="MONDO:equivalentTo"} xref: MESH:C536984 {source="MONDO:equivalentTo", source="Orphanet:75858", source="Orphanet:75858/e"} xref: OMIM:610156 {source="MONDO:equivalentTo", source="Orphanet:75858", source="Orphanet:75858/e"} xref: Orphanet:75858 {source="OMIM:610156", source="MONDO:equivalentTo"} @@ -265632,6 +267564,7 @@ synonym: "MGCA5" EXACT ABBREVIATION [DOID:0110000, MONDO:Lexical, OMIM:610198] xref: DOID:0110000 {source="MONDO:equivalentTo"} xref: GARD:12964 {source="Orphanet:66634"} xref: ICD10CM:E71.1 {source="Orphanet:66634", source="Orphanet:66634/attributed", source="Orphanet:66634/ntbt", source="DOID:0110000"} +xref: icd11.foundation:422277813 {source="MONDO:equivalentTo"} xref: MESH:C565706 {source="MONDO:equivalentTo"} xref: NCIT:C173146 {source="MONDO:equivalentTo"} xref: OMIM:610198 {source="Orphanet:66634", source="GARD:0010344", source="MONDO:equivalentTo", source="Orphanet:66634/e", source="DOID:0110000"} @@ -265720,6 +267653,7 @@ synonym: "PCH5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610204, Orphanet:166068] synonym: "pontocerebellar hypoplasia, type 5" RELATED [MONDO:Lexical, OMIM:610204] xref: DOID:0060274 {source="MONDO:equivalentTo"} xref: ICD10CM:Q04.3 {source="Orphanet:166068", source="Orphanet:166068/attributed", source="Orphanet:166068/ntbt"} +xref: icd11.foundation:1962551792 {source="MONDO:equivalentTo"} xref: MESH:C537745 {source="DOID:0060274", source="MONDO:equivalentTo"} xref: OMIM:610204 {source="DOID:0060274", source="Orphanet:166068", source="MONDO:equivalentTo", source="Orphanet:166068/e"} xref: Orphanet:166068 {source="DOID:0060274", source="MONDO:equivalentObsolete", source="OMIM:610204"} @@ -265912,6 +267846,7 @@ synonym: "synpolydactyly, Malik type" EXACT [Orphanet:295199] xref: GARD:17360 {source="Orphanet:295199"} xref: ICD10CM:Q70.0 {source="Orphanet:295199/attributed", source="Orphanet:295199", source="Orphanet:295199/nd"} xref: ICD10CM:Q70.2 {source="Orphanet:295199/attributed", source="Orphanet:295199", source="Orphanet:295199/nd"} +xref: icd11.foundation:1671501762 {source="MONDO:equivalentTo"} xref: MESH:C565216 {source="MONDO:equivalentTo"} xref: OMIM:610234 {source="Orphanet:295199", source="MONDO:equivalentTo", source="Orphanet:295199/e"} xref: Orphanet:295199 {source="OMIM:610234", source="MONDO:equivalentTo"} @@ -265956,6 +267891,7 @@ synonym: "spinocerebellar ataxia type 23" EXACT [MONDORULE:2, OMIM:610245] xref: DOID:0050973 {source="MONDO:equivalentTo"} xref: GARD:9950 {source="Orphanet:101108"} xref: ICD10CM:G11.2 {source="Orphanet:101108", source="Orphanet:101108/attributed", source="Orphanet:101108/ntbt"} +xref: icd11.foundation:1340267869 {source="MONDO:equivalentTo"} xref: MESH:C537201 {source="MONDO:equivalentTo", source="Orphanet:101108", source="Orphanet:101108/e"} xref: OMIM:610245 {source="DOID:0050973", source="MONDO:equivalentTo", source="Orphanet:101108", source="Orphanet:101108/e"} xref: Orphanet:101108 {source="OMIM:610245", source="MONDO:equivalentTo"} @@ -265980,6 +267916,7 @@ synonym: "spinocerebellar ataxia type 28" EXACT [MONDORULE:2, OMIM:610246] xref: DOID:0050977 {source="MONDO:equivalentTo"} xref: GARD:9951 {source="Orphanet:101109"} xref: ICD10CM:G11.1 {source="Orphanet:101109/attributed", source="Orphanet:101109/ntbt", source="Orphanet:101109"} +xref: icd11.foundation:2020736035 {source="MONDO:equivalentTo"} xref: MESH:C537205 {source="Orphanet:101109/e", source="MONDO:equivalentTo", source="Orphanet:101109"} xref: OMIM:610246 {source="Orphanet:101109/e", source="MONDO:equivalentTo", source="DOID:0050977", source="Orphanet:101109"} xref: Orphanet:101109 {source="MONDO:equivalentTo", source="OMIM:610246"} @@ -266097,6 +268034,7 @@ synonym: "Kleefstra syndrome" EXACT CLINGEN_LABEL [OMIM:610253] xref: DOID:0080597 {source="MONDO:equivalentTo"} xref: GARD:8672 {source="Orphanet:261494"} xref: ICD10CM:Q87.8 {source="Orphanet:261494/attributed", source="Orphanet:261494/ntbt", source="Orphanet:261494"} +xref: icd11.foundation:1997337437 {source="MONDO:equivalentTo"} xref: NORD:184097 {source="MONDO:NORD"} xref: OMIMPS:610253 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:261494 {source="DOID:0060352", source="OMIM:610253", source="MONDO:equivalentTo"} @@ -266310,6 +268248,7 @@ synonym: "GPID" RELATED ABBREVIATION [OMIM:610293] synonym: "PIGM-CDG" EXACT [Orphanet:83639] xref: GARD:9965 {source="Orphanet:83639"} xref: ICD10CM:E88.8 {source="Orphanet:83639/attributed", source="Orphanet:83639/ntbt", source="Orphanet:83639"} +xref: icd11.foundation:1811042875 {source="MONDO:equivalentTo"} xref: OMIM:610293 {source="Orphanet:83639/e", source="MONDO:equivalentTo", source="Orphanet:83639"} xref: Orphanet:83639 {source="MONDO:equivalentTo", source="OMIM:610293"} xref: SCTID:724344004 {source="MONDO:equivalentTo"} @@ -266530,6 +268469,7 @@ synonym: "retinal cone dystrophy type 3B" EXACT [MONDORULE:4, OMIM:610356] xref: DOID:0081022 {source="MONDO:equivalentTo"} xref: GARD:10649 {source="Orphanet:209932"} xref: ICD10CM:H35.5 {source="Orphanet:209932/attributed", source="Orphanet:209932/ntbt", source="Orphanet:209932"} +xref: icd11.foundation:545671557 {source="MONDO:equivalentTo"} xref: MESH:C563678 {source="MONDO:equivalentTo"} xref: OMIM:610356 {source="Orphanet:209932/e", source="MONDO:equivalentTo", source="Orphanet:209932"} xref: Orphanet:209932 {source="MONDO:equivalentTo", source="OMIM:610356"} @@ -266694,6 +268634,7 @@ synonym: "MVA" EXACT ABBREVIATION [Orphanet:29] xref: DOID:0050452 {source="MONDO:equivalentTo"} xref: GARD:3588 {source="Orphanet:29"} xref: ICD10CM:E88.8 {source="Orphanet:29", source="Orphanet:29/attributed", source="Orphanet:29/ntbt"} +xref: icd11.foundation:572875152 {source="MONDO:equivalentTo"} xref: MedDRA:10072219 {source="Orphanet:29", source="Orphanet:29/e"} xref: MESH:D054078 {source="DOID:0050452", source="Orphanet:29", source="Orphanet:29/e"} xref: NCIT:C84890 {source="DOID:0050452", source="MONDO:equivalentTo"} @@ -266977,6 +268918,7 @@ synonym: "spondyloepimetaphyseal dysplasia, Geneviève type" RELATED [Orphanet:1 xref: DOID:0080576 {source="MONDO:equivalentTo"} xref: GARD:10057 {source="Orphanet:168454"} xref: ICD10CM:Q77.7 {source="Orphanet:168454/attributed", source="Orphanet:168454/ntbt", source="Orphanet:168454"} +xref: icd11.foundation:1383217537 {source="MONDO:equivalentTo"} xref: MESH:C535785 {source="Orphanet:168454", source="MONDO:equivalentTo", source="Orphanet:168454/e"} xref: OMIM:610442 {source="Orphanet:168454", source="MONDO:equivalentTo", source="Orphanet:168454/e"} xref: Orphanet:168454 {source="OMIM:610442", source="MONDO:equivalentTo"} @@ -267178,6 +269120,7 @@ synonym: "thiopurines, poor metabolism of, 1" RELATED [OMIM:610460] synonym: "THPM1" RELATED ABBREVIATION [OMIM:610460] synonym: "TPMT deficiency" EXACT [DOID:0080172, OMIM:610460] xref: DOID:0080172 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1916778396 {source="MONDO:equivalentTo"} xref: MESH:C536512 {source="MONDO:equivalentTo"} xref: NCIT:C4389 {source="MONDO:equivalentTo"} xref: OMIM:610460 {source="MONDO:equivalentTo", source="DOID:0080172"} @@ -267657,6 +269600,7 @@ synonym: "type A insulin resistance syndrome" EXACT [NCIT:C131836] xref: EFO:1001503 {source="MONDO:equivalentTo"} xref: GARD:3008 {source="Orphanet:2297"} xref: ICD10CM:E13 {source="Orphanet:2297", source="Orphanet:2297/attributed", source="Orphanet:2297/ntbt"} +xref: icd11.foundation:343459534 {source="MONDO:equivalentTo"} xref: MESH:C562710 {source="MONDO:equivalentTo"} xref: NCIT:C131836 {source="MONDO:equivalentTo"} xref: OMIM:610549 {source="Orphanet:2297", source="MONDO:equivalentTo", source="Orphanet:2297/e"} @@ -268314,6 +270258,7 @@ synonym: "NLSDM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610717, Orphanet:98908] synonym: "triglyceride deposit cardiomyovasculopathy" RELATED [Orphanet:98908] xref: GARD:10288 {source="Orphanet:98908"} xref: ICD10CM:E75.5 {source="Orphanet:98908/attributed", source="Orphanet:98908/ntbt", source="Orphanet:98908"} +xref: icd11.foundation:1512138529 {source="MONDO:equivalentTo"} xref: OMIM:610717 {source="Orphanet:98908/e", source="MONDO:equivalentTo", source="Orphanet:98908"} xref: Orphanet:98908 {source="MONDO:equivalentTo", source="OMIM:610717"} xref: SCTID:699315005 {source="MONDO:equivalentTo"} @@ -268390,6 +270335,7 @@ synonym: "severe congenital neutropenia type 3" EXACT [Orphanet:99749] xref: DOID:0112133 {source="MONDO:equivalentTo"} xref: GARD:302 {source="Orphanet:99749"} xref: ICD10CM:D70 {source="Orphanet:99749/inclusion", source="Orphanet:99749", source="Orphanet:99749/ntbt"} +xref: icd11.foundation:421553273 {source="MONDO:equivalentTo"} xref: OMIM:610738 {source="MONDO:equivalentTo", source="Orphanet:99749", source="Orphanet:99749/e"} xref: Orphanet:99749 {source="MONDO:equivalentTo", source="OMIM:610738"} xref: UMLS:C1853118 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:610738"} @@ -268473,6 +270419,7 @@ synonym: "multiple endocrine neoplasia, type IV" EXACT [DOID:0080137, MONDO:Lexi xref: DOID:0080137 {source="MONDO:equivalentTo"} xref: GARD:17275 {source="Orphanet:276152"} xref: ICD10CM:D44.8 {source="Orphanet:276152/attributed", source="Orphanet:276152/ntbt", source="Orphanet:276152"} +xref: icd11.foundation:157945677 {source="MONDO:equivalentTo"} xref: MESH:C567059 {source="MONDO:equivalentTo"} xref: NCIT:C157449 {source="MONDO:equivalentTo"} xref: OMIM:610755 {source="Orphanet:276152/e", source="MONDO:equivalentTo", source="DOID:0080137", source="Orphanet:276152"} @@ -268660,6 +270607,7 @@ synonym: "primary immunodeficiency syndrome due to LAMTOR2 deficiency" EXACT [Or synonym: "primary immunodeficiency syndrome with short stature" EXACT [Orphanet:90023] xref: GARD:16783 {source="Orphanet:90023"} xref: ICD10CM:D82.8 {source="Orphanet:90023", source="Orphanet:90023/attributed", source="Orphanet:90023/ntbt"} +xref: icd11.foundation:813140844 {source="MONDO:equivalentTo"} xref: MESH:C563663 {source="MONDO:equivalentTo"} xref: OMIM:610798 {source="MONDO:equivalentTo", source="Orphanet:90023", source="Orphanet:90023/e"} xref: Orphanet:90023 {source="MONDO:equivalentTo", source="OMIM:610798"} @@ -268949,6 +270897,7 @@ synonym: "trisomy 17p11.2" EXACT [DOID:0060853, Orphanet:1713] xref: DECIPHER:19 {source="MONDO:equivalentTo"} xref: DOID:0060853 {source="MONDO:equivalentTo"} xref: GARD:10145 {source="Orphanet:1713"} +xref: icd11.foundation:1720095972 {source="MONDO:equivalentTo"} xref: MESH:C536578 {source="Orphanet:1713/e", source="DOID:0060853", source="Orphanet:1713"} xref: NCIT:C124846 {source="MONDO:equivalentTo"} xref: OMIM:610883 {source="Orphanet:1713/e", source="DOID:0060853", source="MONDO:equivalentTo", source="Orphanet:1713"} @@ -269056,6 +271005,7 @@ synonym: "pulmonary alveolar proteinosis, acquired" RELATED [OMIM:610910] synonym: "pulmonary alveolar proteinosis, autoimmune" RELATED [OMIM:610910] xref: GARD:7499 {source="Orphanet:747"} xref: ICD10CM:J84.0 {source="Orphanet:747", source="Orphanet:747/ntbt"} +xref: icd11.foundation:676409940 {source="MONDO:equivalentTo"} xref: MESH:C567049 {source="MONDO:equivalentTo"} xref: NORD:1633 {source="MONDO:NORD"} xref: OMIM:610910 {source="MONDO:equivalentTo", source="Orphanet:747", source="Orphanet:747/e"} @@ -269300,6 +271250,7 @@ synonym: "PTHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610954] xref: DOID:0060488 {source="MONDO:equivalentTo"} xref: GARD:4372 {source="Orphanet:2896"} xref: ICD10CM:Q87.0 {source="Orphanet:2896/attributed", source="Orphanet:2896/ntbt", source="Orphanet:2896"} +xref: icd11.foundation:2040786134 {source="MONDO:equivalentTo"} xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537403 {source="DOID:0060488", source="Orphanet:2896", source="MONDO:equivalentTo", source="Orphanet:2896/e"} xref: NCIT:C129872 {source="MONDO:equivalentTo"} @@ -269358,6 +271309,7 @@ synonym: "type V OI" RELATED [GARD:0008699] xref: DOID:0110344 {source="MONDO:equivalentTo"} xref: GARD:8699 {source="Orphanet:216828"} xref: ICD10CM:Q78.0 {source="Orphanet:216828", source="Orphanet:216828/attributed", source="Orphanet:216828/ntbt", source="DOID:0110344"} +xref: icd11.foundation:1718903422 {source="MONDO:equivalentTo"} xref: MESH:C536046 {source="Orphanet:216828", source="Orphanet:216828/e"} xref: MESH:C567042 {source="MONDO:equivalentTo"} xref: OMIM:610967 {source="MONDO:equivalentTo", source="Orphanet:216828", source="Orphanet:216828/e", source="DOID:0110344"} @@ -269421,6 +271373,7 @@ synonym: "choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome" xref: GARD:12163 {source="Orphanet:209905"} xref: ICD10CM:E03.1 {source="Orphanet:209905/attributed", source="Orphanet:209905/ntbt", source="Orphanet:209905"} xref: icd11.foundation:809856670 {source="Orphanet:209905", source="MONDO:equivalentTo"} +xref: icd11.foundation:809856670 {source="MONDO:equivalentTo"} xref: MESH:C567034 {source="MONDO:equivalentTo"} xref: OMIM:610978 {source="Orphanet:209905", source="MONDO:equivalentTo", source="Orphanet:209905/e"} xref: Orphanet:209905 {source="MONDO:equivalentTo", source="OMIM:610978"} @@ -270028,6 +271981,7 @@ synonym: "dis" EXACT [MONDO:Lexical, OMIM:611102, Orphanet:94064] synonym: "sensorineural deafness and male infertility" RELATED [GARD:0011911] xref: GARD:11911 {source="Orphanet:94064"} xref: ICD10CM:Q93.5 {source="Orphanet:94064/attributed", source="Orphanet:94064/ntbt", source="Orphanet:94064"} +xref: icd11.foundation:1430704280 {source="MONDO:equivalentTo"} xref: ICD9:758.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C567010 {source="MONDO:equivalentTo"} xref: OMIM:611102 {source="Orphanet:94064/e", source="MONDO:equivalentTo", source="Orphanet:94064"} @@ -270483,6 +272437,7 @@ synonym: "FIG4 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, xref: DOID:0110184 {source="MONDO:equivalentTo"} xref: GARD:12443 {source="Orphanet:139515"} xref: ICD10CM:G60.0 {source="Orphanet:139515/attributed", source="Orphanet:139515/ntbt", source="Orphanet:139515", source="DOID:0110184"} +xref: icd11.foundation:905681283 {source="MONDO:equivalentTo"} xref: MESH:C566984 {source="MONDO:equivalentTo"} xref: NCIT:C134954 {source="MONDO:equivalentTo"} xref: OMIM:611228 {source="Orphanet:139515", source="MONDO:equivalentTo", source="DOID:0110184", source="Orphanet:139515/e"} @@ -270868,6 +272823,7 @@ synonym: "brachydactyly, type B2" RELATED [MONDO:Lexical, OMIM:611377] xref: DOID:0110975 {source="MONDO:equivalentTo"} xref: GARD:16963 {source="Orphanet:140908"} xref: ICD10CM:Q73.8 {source="DOID:0110975", source="Orphanet:140908", source="Orphanet:140908/attributed", source="Orphanet:140908/ntbt"} +xref: icd11.foundation:891810441 {source="MONDO:equivalentTo"} xref: OMIM:611377 {source="DOID:0110975", source="MONDO:equivalentTo", source="Orphanet:140908", source="Orphanet:140908/e"} xref: Orphanet:140908 {source="DOID:0110975", source="OMIM:611377", source="MONDO:equivalentTo"} xref: SCTID:770406002 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5493-2602"} @@ -271097,6 +273053,7 @@ synonym: "NF1-like syndrome" EXACT [Orphanet:137605] xref: DOID:0070484 {source="MONDO:equivalentTo"} xref: GARD:10714 {source="Orphanet:137605"} xref: ICD10CM:Q85.0 {source="Orphanet:137605", source="Orphanet:137605/attributed", source="Orphanet:137605/ntbt"} +xref: icd11.foundation:1025118245 {source="MONDO:equivalentTo"} xref: ICD9:709.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C548032 {source="MONDO:equivalentTo", source="Orphanet:137605", source="Orphanet:137605/e"} xref: NCIT:C176941 {source="MONDO:equivalentTo"} @@ -271167,6 +273124,7 @@ synonym: "gallstones" BROAD [NCIT:C122822] synonym: "GBD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611465] xref: DOID:10211 {source="MONDO:equivalentTo", source="EFO:0004799"} xref: EFO:0004799 {source="MONDO:equivalentTo", source="DOID:10211"} +xref: icd11.foundation:1268183934 {source="MONDO:equivalentTo"} xref: ICD9:574 {source="EFO:0004799"} xref: ICD9:574.20 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:574.5 {source="DOID:10211"} @@ -271447,6 +273405,7 @@ synonym: "RARS2 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pa xref: DOID:0060275 {source="MONDO:equivalentTo"} xref: GARD:10710 {source="Orphanet:166073"} xref: ICD10CM:Q04.3 {source="Orphanet:166073/attributed", source="Orphanet:166073/ntbt", source="Orphanet:166073"} +xref: icd11.foundation:1612653027 {source="MONDO:equivalentTo"} xref: MESH:C548074 {source="DOID:0060275", source="Orphanet:166073/e", source="MONDO:equivalentTo", source="Orphanet:166073"} xref: OMIM:611523 {source="DOID:0060275", source="Orphanet:166073/e", source="MONDO:equivalentTo", source="Orphanet:166073"} xref: Orphanet:166073 {source="DOID:0060275", source="MONDO:equivalentTo", source="OMIM:611523"} @@ -272138,6 +274097,7 @@ synonym: "tattoo dysplasia" EXACT [Orphanet:163654] xref: DOID:0112287 {source="MONDO:equivalentTo"} xref: GARD:10629 {source="Orphanet:163654"} xref: ICD10CM:Q77.7 {source="Orphanet:163654", source="Orphanet:163654/attributed", source="Orphanet:163654/ntbt"} +xref: icd11.foundation:897226700 {source="MONDO:equivalentTo"} xref: MESH:C567128 {source="MONDO:equivalentTo"} xref: OMIM:611717 {source="MONDO:equivalentTo", source="Orphanet:163654", source="Orphanet:163654/e"} xref: Orphanet:163654 {source="MONDO:equivalentTo", source="OMIM:611717"} @@ -272276,6 +274236,7 @@ synonym: "progressive myoclonus epilepsy type 3" EXACT [Orphanet:263516] xref: DOID:0111446 {source="MONDO:equivalentTo"} xref: GARD:2167 {source="Orphanet:263516"} xref: ICD10CM:G40.3 {source="Orphanet:263516/attributed", source="Orphanet:263516/ntbt", source="Orphanet:263516"} +xref: icd11.foundation:383417276 {source="MONDO:equivalentTo"} xref: MESH:C567095 {source="MONDO:equivalentTo"} xref: OMIM:611726 {source="Orphanet:263516/e", source="MONDO:equivalentTo", source="Orphanet:263516"} xref: Orphanet:263516 {source="MONDO:equivalentTo", source="OMIM:611726"} @@ -272374,6 +274335,7 @@ synonym: "lipoprotein glomerulopathy" EXACT [MONDO:Lexical, OMIM:611771] synonym: "LPG" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611771, Orphanet:329481] xref: GARD:17504 {source="Orphanet:329481"} xref: ICD10CM:N07.8 {source="Orphanet:329481/attributed", source="Orphanet:329481/ntbt", source="Orphanet:329481"} +xref: icd11.foundation:69778702 {source="MONDO:equivalentTo"} xref: icd11.foundation:69778702 {source="Orphanet:329481", source="MONDO:equivalentTo"} xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:593.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -272440,6 +274402,7 @@ xref: EFO:0004246 {source="MONDO:equivalentTo", source="DOID:13378"} xref: GARD:6816 {source="Orphanet:2331"} xref: ICD10CM:M30.3 {source="Orphanet:2331", source="Orphanet:2331/e", source="DOID:13378"} xref: icd11.foundation:540285662 {source="Orphanet:2331", source="MONDO:equivalentTo"} +xref: icd11.foundation:540285662 {source="MONDO:equivalentTo"} xref: ICD9:446.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13378"} xref: MedDRA:10023320 {source="Orphanet:2331", source="Orphanet:2331/e"} xref: MESH:D009080 {source="EFO:0004246", source="MONDO:equivalentTo", source="DOID:13378"} @@ -272950,6 +274913,7 @@ synonym: "GSD12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611881] synonym: "Red cell aldolase deficiency" RELATED [OMIM:611881] xref: GARD:600 {source="Orphanet:57"} xref: ICD10CM:E74.0 {source="Orphanet:57/attributed", source="Orphanet:57/ntbt", source="Orphanet:57"} +xref: icd11.foundation:1020924235 {source="MONDO:equivalentTo"} xref: ICD9:282.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562718 {source="MONDO:equivalentTo"} xref: OMIM:611881 {source="Orphanet:57", source="MONDO:equivalentTo", source="Orphanet:57/e"} @@ -273108,6 +275072,7 @@ synonym: "episodic ataxia, type 7" RELATED [MONDO:Lexical, OMIM:611907] xref: DOID:0050995 {source="MONDO:equivalentTo"} xref: GARD:17108 {source="Orphanet:209970"} xref: ICD10CM:G11.8 {source="Orphanet:209970", source="Orphanet:209970/attributed", source="Orphanet:209970/ntbt"} +xref: icd11.foundation:1855038011 {source="MONDO:equivalentTo"} xref: MESH:C567459 {source="MONDO:equivalentTo"} xref: OMIM:611907 {source="DOID:0050995", source="MONDO:equivalentTo", source="Orphanet:209970", source="Orphanet:209970/e"} xref: Orphanet:209970 {source="OMIM:611907", source="MONDO:equivalentTo"} @@ -273841,6 +275806,7 @@ synonym: "Young-onset dystonia-(parkinsonism)" RELATED [GARD:0010539] xref: DOID:0090048 {source="MONDO:equivalentTo"} xref: GARD:10539 {source="Orphanet:210571"} xref: ICD10CM:G24.1 {source="Orphanet:210571", source="Orphanet:210571/attributed", source="Orphanet:210571/ntbt", source="DOID:0090048"} +xref: icd11.foundation:548945828 {source="MONDO:equivalentTo"} xref: MESH:C567430 {source="MONDO:equivalentTo"} xref: NCIT:C168729 {source="MONDO:equivalentTo"} xref: OMIM:612067 {source="Orphanet:210571", source="MONDO:equivalentTo", source="Orphanet:210571/e", source="DOID:0090048"} @@ -274563,6 +276529,7 @@ xref: ICD10CM:C40.3 {source="MONDO:relatedTo", source="Orphanet:319", source="Or xref: ICD10CM:C41.2 {source="Orphanet:319", source="Orphanet:319/ntbt"} xref: ICD10CM:C41.3 {source="Orphanet:319", source="Orphanet:319/ntbt"} xref: ICD10CM:C41.4 {source="Orphanet:319", source="Orphanet:319/ntbt"} +xref: icd11.foundation:458106328 {source="MONDO:equivalentTo"} xref: ICDO:9260/3 {source="NCIT:C4817"} xref: MedDRA:10015560 {source="Orphanet:319", source="Orphanet:319/e"} xref: MESH:C563168 {source="DOID:3369"} @@ -275046,6 +277013,7 @@ synonym: "pyogenic bacterial infections, recurrent, due to MyD88 deficiency" EXA synonym: "recurrent pyogenic bacterial infections due to MyD88 deficiency" EXACT [OMIM:612260] xref: GARD:12638 {source="Orphanet:183713"} xref: ICD10CM:D84.8 {source="Orphanet:183713/attributed", source="Orphanet:183713/ntbt", source="Orphanet:183713"} +xref: icd11.foundation:444523526 {source="MONDO:equivalentTo"} xref: MESH:C567379 {source="MONDO:equivalentTo"} xref: OMIM:612260 {source="Orphanet:183713/e", source="MONDO:equivalentTo", source="Orphanet:183713"} xref: Orphanet:183713 {source="MONDO:equivalentTo", source="OMIM:612260"} @@ -275681,6 +277649,7 @@ synonym: "pili Incarnati" RELATED [OMIM:612318] synonym: "Pseudofolliculitis barbae" EXACT [OMIM:612318] synonym: "pseudofolliculitis barbae, susceptibility to" RELATED [OMIM:612318, OMIM:genemap2] xref: ICD10CM:L73.1 {source="MONDO:equivalentTo"} +xref: icd11.foundation:336055701 {source="MONDO:equivalentTo"} xref: MESH:C563016 {source="MONDO:equivalentTo"} xref: OMIM:612318 {source="MONDO:equivalentTo"} xref: UMLS:C0549150 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:612318"} @@ -275890,6 +277859,7 @@ synonym: "spondylocheirodysplasia, Ehlers-Danlos syndrome-like" RELATED [OMIM:61 xref: DOID:0080739 {source="MONDO:equivalentTo"} xref: GARD:12610 {source="Orphanet:157965"} xref: ICD10CM:Q79.6 {source="Orphanet:157965", source="Orphanet:157965/attributed", source="Orphanet:157965/ntbt"} +xref: icd11.foundation:1653521697 {source="MONDO:equivalentTo"} xref: MESH:C567340 {source="MONDO:equivalentTo"} xref: OMIM:612350 {source="MONDO:equivalentTo", source="Orphanet:157965", source="Orphanet:157965/e"} xref: Orphanet:157965 {source="MONDO:equivalentTo", source="OMIM:612350"} @@ -276741,6 +278711,7 @@ synonym: "pseudohypoparathyroidism, type 1C" RELATED [OMIM:612462] synonym: "pseudohypoparathyroidism, type IC" RELATED [MONDO:Lexical, OMIM:612462] xref: GARD:10681 {source="Orphanet:79444"} xref: ICD10CM:E20.1 {source="Orphanet:79444/attributed", source="Orphanet:79444/ntbt", source="Orphanet:79444"} +xref: icd11.foundation:1401673748 {source="MONDO:equivalentTo"} xref: MESH:C548076 {source="Orphanet:79444/e", source="MONDO:equivalentTo", source="Orphanet:79444"} xref: OMIM:612462 {source="Orphanet:79444/e", source="MONDO:equivalentTo", source="Orphanet:79444"} xref: Orphanet:665 {source="OMIM:612462"} @@ -276783,6 +278754,7 @@ synonym: "pseudopseudohypoparathyroidism" EXACT CLINGEN_LABEL [MONDO:Lexical, OM xref: DOID:4183 {source="MONDO:equivalentTo"} xref: GARD:7860 {source="Orphanet:79445"} xref: ICD10CM:E20.1 {source="Orphanet:79445/attributed", source="Orphanet:79445/ntbt", source="Orphanet:79445"} +xref: icd11.foundation:245649135 {source="MONDO:equivalentTo"} xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D011556 {source="Orphanet:79445/e", source="MONDO:equivalentTo", source="DOID:4183", source="Orphanet:79445"} xref: NCIT:C129722 {source="MONDO:equivalentTo"} @@ -278339,6 +280311,7 @@ synonym: "endocrine-CEREBROOSTEODYSPLASIA" RELATED [MONDO:Lexical, OMIM:612651] xref: DOID:0060641 {source="MONDO:equivalentTo"} xref: GARD:17094 {source="Orphanet:199332"} xref: ICD10CM:Q87.8 {source="Orphanet:199332", source="Orphanet:199332/attributed", source="Orphanet:199332/ntbt", source="DOID:0060641"} +xref: icd11.foundation:413985102 {source="MONDO:equivalentTo"} xref: MESH:C567210 {source="MONDO:equivalentTo"} xref: OMIM:612651 {source="Orphanet:199332", source="DOID:0060641", source="MONDO:equivalentTo", source="Orphanet:199332/e"} xref: Orphanet:199332 {source="OMIM:612651", source="DOID:0060641", source="MONDO:equivalentTo"} @@ -278393,6 +280366,7 @@ synonym: "SLC1A3 hereditary episodic ataxia" EXACT [MONDO:design_pattern, MONDO: xref: DOID:0050994 {source="MONDO:equivalentTo"} xref: GARD:17107 {source="Orphanet:209967"} xref: ICD10CM:G11.8 {source="Orphanet:209967", source="Orphanet:209967/attributed", source="Orphanet:209967/ntbt"} +xref: icd11.foundation:1493336901 {source="MONDO:equivalentTo"} xref: MESH:C567207 {source="MONDO:equivalentTo"} xref: OMIM:612656 {source="Orphanet:209967", source="DOID:0050994", source="MONDO:equivalentTo", source="Orphanet:209967/e"} xref: Orphanet:209967 {source="MONDO:equivalentTo", source="OMIM:612656"} @@ -278496,6 +280470,7 @@ synonym: "polymicrogyria, bilateral temporooccipital" RELATED [MONDO:Lexical, OM xref: DOID:0080923 {source="MONDO:equivalentTo"} xref: GARD:10785 {source="Orphanet:208441"} xref: ICD10CM:Q04.3 {source="Orphanet:208441", source="Orphanet:208441/attributed", source="Orphanet:208441/ntbt"} +xref: icd11.foundation:293410499 {source="MONDO:equivalentTo"} xref: MESH:C567201 {source="MONDO:equivalentTo"} xref: OMIM:612691 {source="MONDO:equivalentTo", source="Orphanet:208441", source="Orphanet:208441/e"} xref: Orphanet:208441 {source="MONDO:equivalentTo", source="OMIM:612691"} @@ -278794,6 +280769,7 @@ synonym: "guanidinoacetate N-methyltransferase activity disease" EXACT [MONDO:de xref: DOID:0050799 {source="MONDO:equivalentTo"} xref: GARD:2578 {source="Orphanet:382"} xref: ICD10CM:E72.8 {source="Orphanet:382", source="Orphanet:382/attributed", source="Orphanet:382/ntbt"} +xref: icd11.foundation:1811642217 {source="MONDO:equivalentTo"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537622 {source="MONDO:equivalentTo", source="Orphanet:382", source="Orphanet:382/e"} xref: NORD:1967 {source="MONDO:NORD"} @@ -279001,6 +280977,7 @@ synonym: "immunodeficiency type 9" EXACT [MONDORULE:1, OMIM:612782] xref: DOID:0111976 {source="MONDO:equivalentTo"} xref: GARD:10524 {source="Orphanet:317428"} xref: ICD10CM:D81.8 {source="Orphanet:317428", source="Orphanet:317428/attributed", source="Orphanet:317428/ntbt"} +xref: icd11.foundation:677672007 {source="MONDO:equivalentTo"} xref: MESH:C557826 {source="MONDO:equivalentTo"} xref: OMIM:612782 {source="Orphanet:317428", source="MONDO:equivalentTo", source="Orphanet:317428/e"} xref: Orphanet:169090 {source="OMIM:612782"} @@ -279027,6 +281004,7 @@ synonym: "STIM1 deficiency" RELATED [OMIM:612783] xref: DOID:0111970 {source="MONDO:equivalentTo"} xref: GARD:10523 {source="Orphanet:317430"} xref: ICD10CM:D81.8 {source="Orphanet:317430/attributed", source="Orphanet:317430/ntbt", source="Orphanet:317430"} +xref: icd11.foundation:8644198 {source="MONDO:equivalentTo"} xref: MESH:C557827 {source="MONDO:equivalentTo"} xref: OMIM:612783 {source="Orphanet:317430/e", source="MONDO:equivalentTo", source="Orphanet:317430"} xref: Orphanet:169090 {source="OMIM:612783"} @@ -279141,6 +281119,7 @@ synonym: "SEMDAG" RELATED ABBREVIATION [OMIM:612813] synonym: "spondyloepimetaphyseal dysplasia, aggrecan type" EXACT [OMIM:612813] xref: GARD:10513 {source="Orphanet:171866"} xref: ICD10CM:Q77.7 {source="Orphanet:171866/attributed", source="Orphanet:171866/ntbt", source="Orphanet:171866"} +xref: icd11.foundation:1133152894 {source="MONDO:equivalentTo"} xref: MESH:C567558 {source="MONDO:equivalentTo"} xref: OMIM:612813 {source="Orphanet:171866/e", source="MONDO:equivalentTo", source="Orphanet:171866"} xref: Orphanet:171866 {source="MONDO:equivalentTo", source="OMIM:612813"} @@ -279356,6 +281335,7 @@ synonym: "Cteph, Dvt-negative, susceptibility to" RELATED [OMIM:612862] synonym: "pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to" RELATED [OMIM:612862] xref: GARD:13124 {source="Orphanet:70591"} xref: icd11.foundation:1567490107 {source="Orphanet:70591", source="MONDO:equivalentTo"} +xref: icd11.foundation:1567490107 {source="MONDO:equivalentTo"} xref: ICD9:415.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10068739 {source="Orphanet:70591", source="Orphanet:70591/e"} @@ -279415,6 +281395,7 @@ synonym: "subepithelial mucinous corneal dystrophy" EXACT [OMIM:612867] xref: DOID:0060454 {source="MONDO:equivalentTo"} xref: GARD:16878 {source="Orphanet:98959"} xref: ICD10CM:H18.5 {source="DOID:0060454", source="Orphanet:98959/attributed", source="Orphanet:98959/ntbt", source="Orphanet:98959"} +xref: icd11.foundation:943706174 {source="MONDO:equivalentTo"} xref: MESH:C567547 {source="DOID:0060454", source="MONDO:equivalentTo"} xref: OMIM:612867 {source="Orphanet:98959/e", source="DOID:0060454", source="MONDO:equivalentTo", source="Orphanet:98959"} xref: Orphanet:98959 {source="DOID:0060454", source="MONDO:equivalentTo", source="OMIM:612867"} @@ -279440,6 +281421,7 @@ synonym: "posterior amorphous stromal dystrophy" EXACT [Orphanet:98971] xref: DOID:0060452 {source="MONDO:equivalentTo"} xref: GARD:16880 {source="Orphanet:98971"} xref: ICD10CM:H18.5 {source="Orphanet:98971", source="DOID:0060452", source="Orphanet:98971/attributed", source="Orphanet:98971/ntbt"} +xref: icd11.foundation:347556972 {source="MONDO:equivalentTo"} xref: MESH:C567546 {source="DOID:0060452", source="MONDO:equivalentTo"} xref: OMIM:612868 {source="Orphanet:98971", source="DOID:0060452", source="MONDO:equivalentTo", source="Orphanet:98971/e"} xref: Orphanet:98971 {source="DOID:0060452", source="MONDO:equivalentTo", source="OMIM:612868"} @@ -279459,6 +281441,7 @@ synonym: "AMP deaminase deficiency" EXACT [Orphanet:45] synonym: "myoadenylate deaminase deficiency" EXACT [Orphanet:45] xref: GARD:547 {source="Orphanet:45"} xref: ICD10CM:G71.3 {source="Orphanet:45", source="Orphanet:45/attributed", source="Orphanet:45/ntbt"} +xref: icd11.foundation:550341491 {source="MONDO:equivalentTo"} xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538234 {source="Orphanet:45", source="MONDO:equivalentTo", source="Orphanet:45/e"} xref: Orphanet:45 {source="OMIM:612874", source="MONDO:equivalentTo"} @@ -279920,6 +281903,7 @@ synonym: "muscle enolase deficiency" EXACT [Orphanet:99849] synonym: "muscular enolase deficiency" EXACT [Orphanet:99849] xref: GARD:2125 {source="Orphanet:99849"} xref: ICD10CM:E74.0 {source="Orphanet:99849", source="Orphanet:99849/attributed", source="Orphanet:99849/ntbt"} +xref: icd11.foundation:821809975 {source="MONDO:equivalentTo"} xref: MESH:C567861 {source="MONDO:equivalentTo"} xref: OMIM:612932 {source="MONDO:equivalentTo", source="Orphanet:99849", source="Orphanet:99849/e"} xref: Orphanet:99849 {source="MONDO:equivalentTo", source="OMIM:612932"} @@ -280237,6 +282221,7 @@ synonym: "RNAse T2-deficient leukoencephalopathy" RELATED [GARD:0013199] xref: DOID:0081007 {source="MONDO:equivalentTo"} xref: GARD:13199 {source="Orphanet:85136"} xref: ICD10CM:E75.2 {source="Orphanet:85136", source="Orphanet:85136/attributed", source="Orphanet:85136/ntbt"} +xref: icd11.foundation:1081165012 {source="MONDO:equivalentTo"} xref: MESH:C567845 {source="Orphanet:85136", source="MONDO:equivalentTo", source="Orphanet:85136/e"} xref: OMIM:612951 {source="Orphanet:85136", source="MONDO:equivalentTo", source="Orphanet:85136/e"} xref: Orphanet:85136 {source="OMIM:612951", source="MONDO:equivalentTo"} @@ -280640,6 +282625,7 @@ synonym: "Fishman syndrome" EXACT [GARD:0002108, NCIT:C4701] synonym: "Haberland syndrome" EXACT [Orphanet:2396] xref: GARD:2108 {source="Orphanet:2396"} xref: ICD10CM:E88.2 {source="Orphanet:2396", source="Orphanet:2396/attributed", source="Orphanet:2396/ntbt"} +xref: icd11.foundation:1084215843 {source="MONDO:equivalentTo"} xref: ICD9:757.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535736 {source="Orphanet:2396", source="MONDO:equivalentTo", source="Orphanet:2396/e"} xref: NCIT:C4701 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -281333,6 +283319,7 @@ synonym: "neurodegenerative syndrome due to cerebral folate transport deficiency xref: DOID:0050719 {source="MONDO:equivalentTo"} xref: GARD:10594 {source="Orphanet:217382"} xref: ICD10CM:G31.8 {source="Orphanet:217382", source="Orphanet:217382/attributed", source="Orphanet:217382/ntbt"} +xref: icd11.foundation:1158040363 {source="MONDO:equivalentTo"} xref: ICD9:266.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C567791 {source="MONDO:equivalentTo"} xref: OMIM:613068 {source="MONDO:equivalentTo", source="Orphanet:217382", source="Orphanet:217382/e"} @@ -281550,6 +283537,7 @@ synonym: "Nijmegen breakage syndrome-like disorder" EXACT [MONDO:Lexical, OMIM:6 synonym: "RAD50 deficiency" EXACT [Orphanet:240760] synonym: "Rad50 deficiency" RELATED [OMIM:613078] xref: GARD:17184 {source="Orphanet:240760"} +xref: icd11.foundation:1014526672 {source="MONDO:equivalentTo"} xref: MESH:C567767 {source="MONDO:equivalentTo"} xref: NCIT:C153178 {source="MONDO:equivalentTo"} xref: OMIM:613078 {source="Orphanet:240760", source="MONDO:equivalentTo", source="Orphanet:240760/e"} @@ -281704,6 +283692,7 @@ synonym: "CLAPO syndrome, somatic" EXACT [OMIM:613089, OMIM:genemap2] synonym: "Lopez-Gutierrez syndrome" RELATED [OMIM:613089] xref: GARD:17044 {source="Orphanet:168984"} xref: ICD10CM:Q87.3 {source="Orphanet:168984/attributed", source="Orphanet:168984/ntbt", source="Orphanet:168984"} +xref: icd11.foundation:415642712 {source="MONDO:equivalentTo"} xref: MESH:C567763 {source="MONDO:equivalentTo"} xref: OMIM:613089 {source="Orphanet:168984", source="MONDO:equivalentTo", source="Orphanet:168984/e"} xref: Orphanet:168984 {source="OMIM:613089", source="MONDO:equivalentTo"} @@ -282144,6 +284133,7 @@ synonym: "thrombophilia due to histidine-rich glycoprotein deficiency" RELATED [ xref: DOID:0111903 {source="MONDO:equivalentTo"} xref: GARD:17125 {source="Orphanet:217467"} xref: ICD10CM:D68.5 {source="Orphanet:217467/attributed", source="Orphanet:217467/ntbt", source="Orphanet:217467"} +xref: icd11.foundation:1764310021 {source="MONDO:equivalentTo"} xref: MESH:C567737 {source="MONDO:equivalentTo"} xref: OMIM:613116 {source="Orphanet:217467/e", source="MONDO:equivalentTo", source="Orphanet:217467"} xref: Orphanet:217467 {source="OMIM:613116", source="MONDO:equivalentTo"} @@ -282659,6 +284649,7 @@ synonym: "beta-ureidopropionase deficiency" EXACT CLINGEN_LABEL [OMIM:613161] synonym: "UPB1D" RELATED ABBREVIATION [OMIM:613161] xref: GARD:16669 {source="Orphanet:65287"} xref: ICD10CM:E79.8 {source="Orphanet:65287/attributed", source="Orphanet:65287/ntbt", source="Orphanet:65287"} +xref: icd11.foundation:1227425060 {source="MONDO:equivalentTo"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563210 {source="MONDO:equivalentTo"} xref: OMIM:613161 {source="Orphanet:65287/e", source="MONDO:equivalentTo", source="Orphanet:65287"} @@ -282817,6 +284808,7 @@ synonym: "Urban-Rifkin-Davis syndrome" EXACT [OMIM:613177, Orphanet:221145] xref: DOID:0070139 {source="MONDO:equivalentTo"} xref: GARD:17140 {source="Orphanet:221145"} xref: ICD10CM:Q82.8 {source="Orphanet:221145", source="Orphanet:221145/attributed", source="Orphanet:221145/ntbt"} +xref: icd11.foundation:424903269 {source="MONDO:equivalentTo"} xref: MESH:C567716 {source="MONDO:equivalentTo"} xref: OMIM:613177 {source="Orphanet:221145", source="MONDO:equivalentTo", source="DOID:0070139", source="Orphanet:221145/e"} xref: Orphanet:221145 {source="OMIM:613177", source="MONDO:equivalentTo", source="DOID:0070139"} @@ -283344,6 +285336,7 @@ synonym: "trichotillomania, multifactorial" EXACT [OMIM:613229, OMIM:genemap2] synonym: "TTM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613229] xref: DOID:0050587 {source="MONDO:equivalentTo"} xref: ICD10CM:F63.3 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1253999657 {source="MONDO:equivalentTo"} xref: ICD9:312.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D014256 {source="MONDO:equivalentTo"} xref: NCIT:C94336 {source="MONDO:equivalentTo"} @@ -284270,6 +286263,7 @@ synonym: "plasminogen activator inhibitor type 1 deficiency" RELATED [GARD:00043 synonym: "plasminogen activator INHIBITOR-1 deficiency" RELATED [OMIM:613329] xref: GARD:4381 {source="Orphanet:465"} xref: ICD10CM:D68.8 {source="Orphanet:465/attributed", source="Orphanet:465/ntbt", source="Orphanet:465"} +xref: icd11.foundation:428643962 {source="MONDO:equivalentTo"} xref: icd11.foundation:428643962 {source="MONDO:equivalentTo", source="Orphanet:465"} xref: MESH:C567640 {source="MONDO:equivalentTo"} xref: NCIT:C133884 {source="MONDO:equivalentTo"} @@ -284390,6 +286384,7 @@ synonym: "Mseleni JOINT disease" RELATED [OMIM:613342] synonym: "Mseleni joint disease" EXACT [Orphanet:2619] xref: GARD:960 {source="Orphanet:2619"} xref: ICD10CM:Q77.7 {source="Orphanet:2619/attributed", source="Orphanet:2619/ntbt", source="Orphanet:2619"} +xref: icd11.foundation:419953164 {source="MONDO:equivalentTo"} xref: MESH:C537086 {source="Orphanet:2619/e", source="MONDO:equivalentTo", source="Orphanet:2619"} xref: OMIM:613342 {source="Orphanet:2619/e", source="MONDO:equivalentTo", source="Orphanet:2619"} xref: Orphanet:2619 {source="OMIM:613342", source="MONDO:equivalentTo"} @@ -284412,6 +286407,7 @@ synonym: "Hjd" RELATED [OMIM:613343] synonym: "spondyloepimetaphyseal dysplasia, Handigodu type" EXACT [OMIM:613343] xref: GARD:10741 {source="Orphanet:99642"} xref: ICD10CM:Q77.7 {source="Orphanet:99642", source="Orphanet:99642/attributed", source="Orphanet:99642/ntbt"} +xref: icd11.foundation:2048058677 {source="MONDO:equivalentTo"} xref: OMIM:613343 {source="Orphanet:99642", source="MONDO:equivalentTo", source="Orphanet:99642/e"} xref: Orphanet:99642 {source="OMIM:613343", source="MONDO:equivalentTo"} xref: UMLS:C3150545 {source="OMIM:613343", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -284587,6 +286583,7 @@ synonym: "spinocerebellar ataxia type 30" EXACT [GARD:0004950] xref: DOID:0050979 {source="MONDO:equivalentTo"} xref: GARD:4950 {source="Orphanet:211017"} xref: ICD10CM:G11.2 {source="Orphanet:211017", source="Orphanet:211017/attributed", source="Orphanet:211017/ntbt"} +xref: icd11.foundation:716324960 {source="MONDO:equivalentTo"} xref: MESH:C537206 {source="MONDO:relatedTo", source="Orphanet:211017", source="Orphanet:211017/e"} xref: MESH:C575214 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2212"} xref: OMIM:613371 {source="MONDO:equivalentTo", source="Orphanet:211017", source="DOID:0050979", source="Orphanet:211017/e"} @@ -284680,6 +286677,7 @@ synonym: "ITCH E3 ubiquitin ligase deficiency" RELATED [GARD:0010775] synonym: "syndromic multisystem autoimmune disease" RELATED [GARD:0010775] synonym: "syndromic multisystem autoimmune disease due to ITCH deficiency" EXACT CLINGEN_LABEL [] xref: GARD:10775 {source="Orphanet:228426"} +xref: icd11.foundation:1970749000 {source="MONDO:equivalentTo"} xref: OMIM:613385 {source="Orphanet:228426", source="GARD:0010775", source="MONDO:equivalentTo", source="Orphanet:228426/e"} xref: Orphanet:228426 {source="MONDO:equivalentTo", source="OMIM:613385"} xref: UMLS:C3150649 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:613385"} @@ -284839,6 +286837,7 @@ synonym: "WARSAW breakage syndrome" RELATED [OMIM:613398] synonym: "Warsaw breakage syndrome" EXACT [MONDO:Lexical, OMIM:613398] xref: DOID:0060535 {source="MONDO:equivalentTo"} xref: GARD:13708 {source="Orphanet:280558"} +xref: icd11.foundation:833375162 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C164675 {source="MONDO:equivalentTo"} xref: OMIM:613398 {source="Orphanet:280558", source="MONDO:equivalentTo", source="Orphanet:280558/e", source="DOID:0060535"} @@ -285450,6 +287449,7 @@ synonym: "Reynolds syndrome" EXACT [OMIM:613471] xref: GARD:4697 {source="Orphanet:779"} xref: ICD10CM:K74.3 {source="Orphanet:779", source="Orphanet:779/nd"} xref: ICD10CM:L94.0 {source="Orphanet:779", source="Orphanet:779/nd"} +xref: icd11.foundation:1409844299 {source="MONDO:equivalentTo"} xref: OMIM:613471 {source="Orphanet:779", source="MONDO:equivalentTo", source="Orphanet:779/e"} xref: Orphanet:779 {source="MONDO:equivalentTo", source="OMIM:613471"} xref: SCTID:715401008 {source="MONDO:equivalentTo"} @@ -285550,6 +287550,7 @@ xref: DOID:5363 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", xref: DOID:5709 {source="MONDO:equivalentTo"} xref: EFO:0000613 {source="MONDO:equivalentTo"} xref: GARD:15667 {source="OMIM:613488"} +xref: icd11.foundation:613182040 {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8852/3 {source="NCIT:C27781"} xref: MESH:D018208 {source="MONDO:equivalentTo", source="EFO:0000613", source="DOID:5363"} @@ -286079,6 +288080,7 @@ synonym: "macrostomia, isolated" RELATED [OMIM:613545] synonym: "transverse cleft, isolated" RELATED [OMIM:613545] xref: GARD:16975 {source="Orphanet:141276"} xref: ICD10CM:Q18.4 {source="Orphanet:141276/attributed", source="Orphanet:141276/ntbt", source="Orphanet:141276"} +xref: icd11.foundation:1460924303 {source="MONDO:equivalentTo"} xref: ICD9:744.83 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D008265 {source="MONDO:equivalentTo"} xref: OMIM:613545 {source="Orphanet:141276", source="MONDO:equivalentTo", source="Orphanet:141276/e"} @@ -286106,6 +288108,7 @@ synonym: "congenital oestrogen deficiency" EXACT OMO:0003005 [] synonym: "pseudohermaphroditism, female, due to placental aromatase deficiency" RELATED [OMIM:613546] xref: GARD:365 {source="Orphanet:91"} xref: ICD10CM:E25.8 {source="Orphanet:91/attributed", source="Orphanet:91/ntbt", source="Orphanet:91"} +xref: icd11.foundation:260189446 {source="MONDO:equivalentTo"} xref: MESH:C537436 {source="Orphanet:91/e", source="MONDO:equivalentTo", source="Orphanet:91"} xref: NCIT:C120144 {source="MONDO:equivalentTo"} xref: OMIM:613546 {source="Orphanet:91/e", source="MONDO:equivalentTo", source="Orphanet:91"} @@ -286346,6 +288349,7 @@ synonym: "PORD" EXACT ABBREVIATION [Orphanet:95699] xref: DOID:0080925 {source="MONDO:equivalentTo"} xref: GARD:12664 {source="Orphanet:95699"} xref: ICD10CM:E25.0 {source="Orphanet:95699", source="Orphanet:95699/attributed", source="Orphanet:95699/ntbt"} +xref: icd11.foundation:497412536 {source="MONDO:equivalentTo"} xref: NCIT:C174439 {source="MONDO:equivalentTo"} xref: OMIM:613571 {source="MONDO:equivalentTo", source="Orphanet:95699", source="Orphanet:95699/e"} xref: Orphanet:418 {source="OMIM:613571"} @@ -286491,6 +288495,7 @@ synonym: "Omd" RELATED [OMIM:613587] xref: DOID:0050578 {source="MONDO:equivalentTo"} xref: GARD:17200 {source="Orphanet:247834"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:247834", source="Orphanet:247834/attributed", source="Orphanet:247834/ntbt"} +xref: icd11.foundation:863463706 {source="MONDO:equivalentTo"} xref: OMIM:613587 {source="MONDO:equivalentTo", source="DOID:0050578", source="Orphanet:247834", source="Orphanet:247834/e"} xref: Orphanet:247834 {source="OMIM:613587", source="MONDO:equivalentTo"} xref: UMLS:C3150833 {source="OMIM:613587", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -288667,6 +290672,7 @@ synonym: "FADD-related immunodeficiency" EXACT CLINGEN_LABEL [] synonym: "immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction" EXACT [OMIM:613759, OMIM:genemap2] synonym: "infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations" RELATED [OMIM:613759] xref: GARD:15004 {source="Orphanet:306550"} +xref: icd11.foundation:440676168 {source="MONDO:equivalentTo"} xref: OMIM:613759 {source="MONDO:equivalentTo", source="Orphanet:306550", source="Orphanet:306550/e"} xref: Orphanet:306550 {source="MONDO:equivalentTo", source="OMIM:613759"} xref: SCTID:723334006 {source="MONDO:equivalentTo"} @@ -289311,6 +291317,7 @@ synonym: "PSC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613806, Orphanet:171] xref: DOID:0060643 {source="MONDO:equivalentTo"} xref: GARD:1280 {source="Orphanet:171"} xref: ICD10CM:K83.0 {source="Orphanet:171", source="DOID:0060643", source="Orphanet:171/ntbt"} +xref: icd11.foundation:857962451 {source="MONDO:equivalentTo"} xref: icd11.foundation:857962451 {source="MONDO:equivalentTo", source="Orphanet:171"} xref: MedDRA:10036732 {source="Orphanet:171", source="Orphanet:171/e"} xref: MESH:C536419 {source="Orphanet:171", source="Orphanet:171/e"} @@ -290541,6 +292548,7 @@ synonym: "spinocerebellar ataxia type 35" EXACT [MONDORULE:2, OMIM:613908] xref: DOID:0050982 {source="MONDO:equivalentTo"} xref: GARD:12366 {source="Orphanet:276193"} xref: ICD10CM:G11.8 {source="Orphanet:276193/attributed", source="Orphanet:276193/ntbt", source="Orphanet:276193"} +xref: icd11.foundation:1674449075 {source="MONDO:equivalentTo"} xref: OMIM:613908 {source="DOID:0050982", source="Orphanet:276193/e", source="MONDO:equivalentTo", source="Orphanet:276193"} xref: Orphanet:276193 {source="OMIM:613908", source="MONDO:equivalentTo"} xref: SCTID:719300001 {source="MONDO:equivalentTo"} @@ -290564,6 +292572,7 @@ synonym: "SCA32" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613909, Orphanet:276183 synonym: "spinocerebellar ataxia 32" RELATED [MONDO:Lexical, OMIM:613909] xref: GARD:17276 {source="Orphanet:276183"} xref: ICD10CM:G11.8 {source="Orphanet:276183/attributed", source="Orphanet:276183/ntbt", source="Orphanet:276183"} +xref: icd11.foundation:1372046516 {source="MONDO:equivalentTo"} xref: OMIM:613909 {source="Orphanet:276183/e", source="MONDO:equivalentTo", source="Orphanet:276183"} xref: Orphanet:276183 {source="OMIM:613909", source="MONDO:equivalentTo"} xref: SCTID:719254001 {source="MONDO:equivalentTo"} @@ -290585,6 +292594,7 @@ synonym: "factor D deficiency" RELATED [OMIM:613912] synonym: "recurrent Neisseria infections due to factor D deficiency" EXACT CLINGEN_LABEL [] xref: GARD:17055 {source="Orphanet:169467"} xref: ICD10CM:D84.1 {source="Orphanet:169467", source="Orphanet:169467/attributed", source="Orphanet:169467/ntbt"} +xref: icd11.foundation:528757185 {source="MONDO:equivalentTo"} xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C565027 {source="MONDO:equivalentTo"} xref: OMIM:613912 {source="Orphanet:169467", source="MONDO:equivalentTo", source="Orphanet:169467/e"} @@ -291436,6 +293446,7 @@ synonym: "progressive myoclonus epilepsy type 6" EXACT [Orphanet:280620] xref: DOID:0111449 {source="MONDO:equivalentTo"} xref: GARD:3872 {source="Orphanet:280620"} xref: ICD10CM:G40.3 {source="Orphanet:280620/attributed", source="Orphanet:280620/ntbt", source="Orphanet:280620"} +xref: icd11.foundation:878291417 {source="MONDO:equivalentTo"} xref: OMIM:614018 {source="Orphanet:280620/e", source="MONDO:equivalentTo", source="Orphanet:280620"} xref: Orphanet:280620 {source="OMIM:614018", source="MONDO:equivalentTo"} xref: UMLS:C5190805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -292563,6 +294574,7 @@ subset: rare synonym: "cutis laxa - Marfanoid syndrome" EXACT [OMIM:614100] synonym: "cutis laxa, neonatal, with MARFANOID phenotype" RELATED [OMIM:614100] xref: GARD:17069 {source="Orphanet:171719"} +xref: icd11.foundation:467492754 {source="MONDO:equivalentTo"} xref: MESH:C563639 {source="MONDO:equivalentTo"} xref: OMIM:614100 {source="MONDO:equivalentTo", source="Orphanet:171719", source="Orphanet:171719/e"} xref: Orphanet:171719 {source="MONDO:equivalentTo", source="OMIM:614100"} @@ -292680,6 +294692,7 @@ synonym: "MMSDH deficiency" RELATED [OMIM:614105] synonym: "MMSDHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614105] xref: GARD:17322 {source="Orphanet:289307"} xref: ICD10CM:E71.1 {source="Orphanet:289307", source="Orphanet:289307/attributed", source="Orphanet:289307/ntbt"} +xref: icd11.foundation:1700759193 {source="MONDO:equivalentTo"} xref: MESH:C566402 {source="MONDO:equivalentTo"} xref: OMIM:614105 {source="MONDO:equivalentTo", source="Orphanet:289307", source="Orphanet:289307/e"} xref: Orphanet:289307 {source="OMIM:614105", source="MONDO:equivalentTo"} @@ -293065,6 +295078,7 @@ synonym: "spinocerebellar ataxia type 36" EXACT [MONDORULE:2, OMIM:614153] xref: DOID:0050983 {source="MONDO:equivalentTo"} xref: GARD:12367 {source="Orphanet:276198"} xref: ICD10CM:G11.8 {source="Orphanet:276198", source="Orphanet:276198/attributed", source="Orphanet:276198/ntbt"} +xref: icd11.foundation:1544814018 {source="MONDO:equivalentTo"} xref: NCIT:C148316 {source="MONDO:equivalentTo"} xref: OMIM:614153 {source="Orphanet:276198", source="DOID:0050983", source="MONDO:equivalentTo", source="Orphanet:276198/e"} xref: Orphanet:276198 {source="MONDO:equivalentTo", source="OMIM:614153"} @@ -293355,6 +295369,7 @@ synonym: "MonoMAC" EXACT [Orphanet:228423] xref: DOID:0111947 {source="MONDO:equivalentTo"} xref: GARD:10934 {source="Orphanet:228423"} xref: ICD10CM:D72.8 {source="Orphanet:228423/attributed", source="Orphanet:228423/ntbt", source="Orphanet:228423"} +xref: icd11.foundation:1077753382 {source="MONDO:equivalentTo"} xref: OMIM:614172 {source="Orphanet:228423/e", source="MONDO:equivalentTo", source="Orphanet:228423"} xref: Orphanet:228423 {source="MONDO:equivalentTo", source="OMIM:614172"} xref: UMLS:C3280030 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:614172"} @@ -294107,6 +296122,7 @@ synonym: "RAMSVPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614224] synonym: "retinal arterial macroaneurysm and supravalvular pulmonic stenosis" EXACT [Orphanet:284247] synonym: "retinal arterial macroaneurysm with supravalvular pulmonic stenosis" RELATED [MONDO:Lexical, OMIM:614224] xref: GARD:12779 {source="Orphanet:284247"} +xref: icd11.foundation:800928909 {source="MONDO:equivalentTo"} xref: OMIM:614224 {source="MONDO:equivalentTo", source="Orphanet:284247", source="Orphanet:284247/e"} xref: Orphanet:284247 {source="OMIM:614224", source="MONDO:equivalentTo"} xref: SCTID:764452004 {source="MONDO:equivalentTo"} @@ -294299,6 +296315,7 @@ synonym: "universal melanosis" EXACT [Orphanet:79146] xref: GARD:16706 {source="Orphanet:79146"} xref: GARD:18074 {source="OMIM:614233"} xref: ICD10CM:L81.4 {source="Orphanet:79146/attributed", source="Orphanet:79146/ntbt", source="Orphanet:79146"} +xref: icd11.foundation:1808730427 {source="MONDO:equivalentTo"} xref: OMIM:614233 {source="Orphanet:79146/e", source="MONDO:equivalentTo", source="Orphanet:79146"} xref: Orphanet:79146 {source="OMIM:614233", source="MONDO:equivalentTo"} xref: SCTID:715630006 {source="MONDO:equivalentTo"} @@ -294763,6 +296780,7 @@ synonym: "tetrasomy type 18P" EXACT [MONDORULE:4, OMIM:614290] synonym: "tetrasomy type 18p" EXACT [MONDORULE:4, Orphanet:3307] xref: GARD:35 {source="Orphanet:3307"} xref: ICD10CM:Q99.8 {source="Orphanet:3307", source="Orphanet:3307/attributed", source="Orphanet:3307/ntbt"} +xref: icd11.foundation:1182006735 {source="MONDO:equivalentTo"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538306 {source="MONDO:equivalentTo"} xref: OMIM:614290 {source="MONDO:equivalentTo", source="Orphanet:3307", source="Orphanet:3307/e"} @@ -295474,6 +297492,7 @@ synonym: "PL deficiency" RELATED [OMIM:614338] synonym: "PNLIPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614338] xref: GARD:17401 {source="Orphanet:309031"} xref: ICD10CM:K90.3 {source="Orphanet:309031/attributed", source="Orphanet:309031/ntbt", source="MONDO:relatedTo", source="Orphanet:309031"} +xref: icd11.foundation:349070670 {source="MONDO:equivalentTo"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C129030 {source="MONDO:equivalentTo"} xref: OMIM:614338 {source="Orphanet:309031", source="MONDO:equivalentTo", source="Orphanet:309031/e"} @@ -297266,6 +299285,7 @@ synonym: "pseudohypoaldosteronism, type IIB" RELATED [MONDO:Lexical, OMIM:614491 synonym: "WNK4 pseudohypoaldosteronism type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:16776 {source="Orphanet:88939"} xref: ICD10CM:I15.1 {source="Orphanet:88939", source="Orphanet:88939/attributed", source="Orphanet:88939/ntbt"} +xref: icd11.foundation:853594829 {source="MONDO:equivalentTo"} xref: MESH:C564161 {source="MONDO:equivalentTo"} xref: OMIM:614491 {source="Orphanet:88939/e", source="MONDO:equivalentTo", source="Orphanet:88939"} xref: Orphanet:757 {source="OMIM:614491"} @@ -297292,6 +299312,7 @@ synonym: "pseudohypoaldosteronism, type IIC" RELATED [MONDO:Lexical, OMIM:614492 synonym: "WNK1 pseudohypoaldosteronism type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:16777 {source="Orphanet:88940"} xref: ICD10CM:I15.1 {source="Orphanet:88940", source="Orphanet:88940/attributed", source="Orphanet:88940/ntbt"} +xref: icd11.foundation:1052840113 {source="MONDO:equivalentTo"} xref: MESH:C564162 {source="MONDO:equivalentTo"} xref: OMIM:614492 {source="Orphanet:88940", source="MONDO:equivalentTo", source="Orphanet:88940/e"} xref: Orphanet:757 {source="OMIM:614492"} @@ -297358,6 +299379,7 @@ synonym: "pseudohypoaldosteronism, type 2D" RELATED [OMIM:614495] synonym: "pseudohypoaldosteronism, type IID" RELATED [MONDO:Lexical, OMIM:614495] xref: GARD:17372 {source="Orphanet:300525"} xref: ICD10CM:I15.1 {source="Orphanet:300525", source="Orphanet:300525/attributed", source="Orphanet:300525/ntbt"} +xref: icd11.foundation:1679339588 {source="MONDO:equivalentTo"} xref: OMIM:614495 {source="MONDO:equivalentTo", source="Orphanet:300525", source="Orphanet:300525/e"} xref: Orphanet:300525 {source="MONDO:equivalentTo", source="OMIM:614495"} xref: Orphanet:757 {source="OMIM:614495"} @@ -297385,6 +299407,7 @@ synonym: "pseudohypoaldosteronism, type 2E" RELATED [OMIM:614496] synonym: "pseudohypoaldosteronism, type IIE" RELATED [MONDO:Lexical, OMIM:614496] xref: GARD:17373 {source="Orphanet:300530"} xref: ICD10CM:I15.1 {source="Orphanet:300530", source="Orphanet:300530/attributed", source="Orphanet:300530/ntbt"} +xref: icd11.foundation:1263491925 {source="MONDO:equivalentTo"} xref: OMIM:614496 {source="Orphanet:300530", source="MONDO:equivalentTo", source="Orphanet:300530/e"} xref: Orphanet:300530 {source="MONDO:equivalentTo", source="OMIM:614496"} xref: Orphanet:757 {source="OMIM:614496"} @@ -297985,6 +300008,7 @@ synonym: "multiple enchondromatosis, Maffucci type" RELATED [OMIM:614569] xref: DOID:0060221 {source="MONDO:equivalentTo"} xref: GARD:6958 {source="Orphanet:163634"} xref: ICD10CM:Q78.4 {source="DOID:0060221", source="Orphanet:163634/inclusion", source="Orphanet:163634", source="Orphanet:163634/ntbt"} +xref: icd11.foundation:548780091 {source="MONDO:equivalentTo"} xref: NCIT:C3213 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: NORD:1393 {source="MONDO:NORD"} xref: OMIM:614569 {source="Orphanet:163634/e", source="DOID:0060221", source="MONDO:equivalentTo", source="Orphanet:163634"} @@ -299328,6 +301352,7 @@ synonym: "urolithiasis, Dha" RELATED [OMIM:614723] xref: DOID:0060350 {source="MONDO:equivalentTo"} xref: GARD:546 {source="Orphanet:976"} xref: ICD10CM:E79.8 {source="Orphanet:976/attributed", source="Orphanet:976/ntbt", source="Orphanet:976"} +xref: icd11.foundation:753682703 {source="MONDO:equivalentTo"} xref: MESH:C538228 {source="MONDO:equivalentTo", source="DOID:0060350"} xref: NCIT:C121564 {source="MONDO:equivalentTo", source="DOID:0060350"} xref: OMIM:614723 {source="Orphanet:976", source="MONDO:equivalentTo", source="Orphanet:976/e", source="DOID:0060350"} @@ -299440,6 +301465,7 @@ synonym: "intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplas xref: DOID:0050885 {source="MONDO:equivalentTo"} xref: GARD:12312 {source="Orphanet:85173"} xref: ICD10CM:Q87.1 {source="Orphanet:85173/attributed", source="Orphanet:85173/ntbt", source="Orphanet:85173"} +xref: icd11.foundation:1064803315 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C130988 {source="MONDO:equivalentTo"} xref: OMIM:614732 {source="Orphanet:85173/e", source="DOID:0050885", source="MONDO:equivalentTo", source="Orphanet:85173"} @@ -301097,6 +303123,7 @@ synonym: "metaphyseal Enchondrodysplasia with 2-hydroxyglutaric aciduria" RELATE synonym: "metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria" RELATED [OMIM:614875] synonym: "spondyloenchondromatosis with D-2-hydroxyglutaric aciduria" RELATED [OMIM:614875] xref: GARD:16902 {source="Orphanet:99646"} +xref: icd11.foundation:1777127218 {source="MONDO:equivalentTo"} xref: OMIM:614875 {source="Orphanet:99646", source="MONDO:equivalentTo", source="Orphanet:99646/e"} xref: Orphanet:99646 {source="OMIM:614875", source="MONDO:equivalentTo"} xref: UMLS:C3553958 {source="OMIM:614875", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -301526,6 +303553,7 @@ synonym: "Prx Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern] xref: DOID:0110193 {source="MONDO:equivalentTo"} xref: GARD:12441 {source="Orphanet:99952"} xref: ICD10CM:G60.0 {source="Orphanet:99952/attributed", source="Orphanet:99952/ntbt", source="Orphanet:99952", source="DOID:0110193"} +xref: icd11.foundation:330503211 {source="MONDO:equivalentTo"} xref: OMIM:614895 {source="Orphanet:99952", source="MONDO:equivalentTo", source="DOID:0110193", source="Orphanet:99952/e"} xref: Orphanet:99952 {source="OMIM:614895", source="MONDO:equivalentTo", source="DOID:0110193"} xref: SCTID:715801001 {source="MONDO:equivalentTo"} @@ -302310,6 +304338,7 @@ synonym: "obesity, morbid, nonsyndromic 1" RELATED [OMIM:614962] xref: DOID:0111334 {source="MONDO:equivalentTo"} xref: GARD:13015 {source="Orphanet:66628"} xref: ICD10CM:E66.8 {source="Orphanet:66628", source="Orphanet:66628/attributed", source="Orphanet:66628/ntbt"} +xref: icd11.foundation:591009309 {source="MONDO:equivalentTo"} xref: NORD:110641 {source="MONDO:NORD"} xref: OMIM:614962 {source="MONDO:equivalentTo", source="Orphanet:66628", source="Orphanet:66628/e"} xref: Orphanet:66628 {source="OMIM:614962", source="MONDO:equivalentTo"} @@ -302338,6 +304367,7 @@ synonym: "obesity, morbid, due to leptin receptor deficiency" EXACT [OMIM:614963 synonym: "obesity, morbid, nonsyndromic 2" RELATED [OMIM:614963] xref: GARD:17083 {source="Orphanet:179494"} xref: ICD10CM:E66.8 {source="Orphanet:179494/attributed", source="Orphanet:179494/ntbt", source="Orphanet:179494"} +xref: icd11.foundation:997823205 {source="MONDO:equivalentTo"} xref: NCIT:C120386 {source="MONDO:equivalentTo"} xref: NORD:109401 {source="MONDO:NORD"} xref: OMIM:614963 {source="Orphanet:179494/e", source="MONDO:equivalentTo", source="Orphanet:179494"} @@ -303175,6 +305205,7 @@ synonym: "spinal muscular atrophy, Jokela type" RELATED [MONDO:Lexical, OMIM:615 xref: DOID:0081356 {source="MONDO:equivalentTo"} xref: GARD:17282 {source="Orphanet:276435"} xref: ICD10CM:G12.1 {source="Orphanet:276435", source="Orphanet:276435/attributed", source="Orphanet:276435/ntbt"} +xref: icd11.foundation:1650555742 {source="MONDO:equivalentTo"} xref: OMIM:615048 {source="MONDO:equivalentTo", source="Orphanet:276435", source="Orphanet:276435/e"} xref: Orphanet:276435 {source="OMIM:615048", source="MONDO:equivalentTo"} xref: UMLS:C3554398 {source="OMIM:615048", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -306570,6 +308601,7 @@ synonym: "severe combined immunodeficiency due to coronin-1A deficiency" EXACT [ xref: DOID:0060019 {source="MONDO:equivalentTo"} xref: GARD:17144 {source="Orphanet:228003"} xref: ICD10CM:D81.2 {source="Orphanet:228003/attributed", source="Orphanet:228003/ntbt", source="Orphanet:228003"} +xref: icd11.foundation:575769539 {source="MONDO:equivalentTo"} xref: OMIM:615401 {source="Orphanet:228003/e", source="MONDO:equivalentTo", source="Orphanet:228003"} xref: Orphanet:228003 {source="OMIM:615401", source="MONDO:equivalentTo"} xref: UMLS:C3809383 {source="OMIM:615401", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -307974,6 +310006,7 @@ synonym: "immunodeficiency type 13" EXACT [MONDORULE:2, OMIM:615518] xref: DOID:0111987 {source="MONDO:equivalentTo"} xref: GARD:12375 {source="Orphanet:228000"} xref: ICD10CM:D72.8 {source="Orphanet:228000/attributed", source="Orphanet:228000/ntbt", source="Orphanet:228000"} +xref: icd11.foundation:1639000446 {source="MONDO:equivalentTo"} xref: OMIM:615518 {source="Orphanet:228000/e", source="MONDO:equivalentTo", source="Orphanet:228000"} xref: Orphanet:228000 {source="MONDO:equivalentTo", source="OMIM:615518"} xref: SCTID:763713000 {source="MONDO:equivalentTo"} @@ -310017,6 +312050,7 @@ synonym: "POIKTMP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615704] synonym: "POIKTMP syndrome" EXACT [Orphanet:221043] xref: GARD:13218 {source="Orphanet:221043"} xref: ICD10CM:Q82.8 {source="Orphanet:221043", source="Orphanet:221043/attributed", source="Orphanet:221043/ntbt"} +xref: icd11.foundation:1585528459 {source="MONDO:equivalentTo"} xref: OMIM:615704 {source="Orphanet:221043", source="MONDO:equivalentTo", source="Orphanet:221043/e"} xref: Orphanet:221043 {source="MONDO:equivalentTo", source="OMIM:615704"} xref: UMLS:C3810325 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615704"} @@ -310543,6 +312577,7 @@ synonym: "severe combined immunodeficiency due to lymphocyte-specific protein ty xref: DOID:0111937 {source="MONDO:equivalentTo"} xref: GARD:17288 {source="Orphanet:280142"} xref: ICD10CM:D81.1 {source="Orphanet:280142", source="Orphanet:280142/attributed", source="Orphanet:280142/ntbt"} +xref: icd11.foundation:999642330 {source="MONDO:equivalentTo"} xref: OMIM:615758 {source="MONDO:equivalentTo", source="Orphanet:280142", source="Orphanet:280142/e"} xref: Orphanet:280142 {source="MONDO:equivalentTo", source="OMIM:615758"} xref: UMLS:C4014233 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -312639,6 +314674,7 @@ synonym: "acid-labile subunit, deficiency of" EXACT [OMIM:615961, OMIM:genemap2] synonym: "ACLSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615961] xref: GARD:16964 {source="Orphanet:140941"} xref: ICD10CM:E34.3 {source="Orphanet:140941", source="Orphanet:140941/attributed", source="Orphanet:140941/ntbt"} +xref: icd11.foundation:29735645 {source="MONDO:equivalentTo"} xref: OMIM:615961 {source="Orphanet:140941/e", source="MONDO:equivalentTo", source="Orphanet:140941"} xref: Orphanet:140941 {source="OMIM:615961", source="MONDO:equivalentTo"} xref: SCTID:721074002 {source="MONDO:equivalentTo"} @@ -312666,6 +314702,7 @@ synonym: "glucocorticoid resistance, generalized" RELATED [MONDO:Lexical, OMIM:6 synonym: "Grl deficiency" RELATED [OMIM:615962] xref: GARD:2499 {source="Orphanet:786"} xref: ICD10CM:E25.8 {source="Orphanet:786", source="Orphanet:786/attributed", source="Orphanet:786/ntbt"} +xref: icd11.foundation:125216923 {source="MONDO:equivalentTo"} xref: icd11.foundation:125216923 {source="Orphanet:786", source="MONDO:equivalentTo"} xref: MESH:C564221 {source="MONDO:equivalentTo"} xref: OMIM:615962 {source="Orphanet:786", source="MONDO:equivalentTo", source="Orphanet:786/e"} @@ -314780,6 +316817,7 @@ synonym: "Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome" EXACT [Orph xref: DOID:0081122 {source="MONDO:equivalentTo"} xref: GARD:28 {source="Orphanet:1388"} xref: ICD10CM:Q87.8 {source="Orphanet:1388/attributed", source="Orphanet:1388/ntbt", source="Orphanet:1388"} +xref: icd11.foundation:1023183031 {source="MONDO:equivalentTo"} xref: MESH:C535347 {source="Orphanet:1388", source="MONDO:equivalentTo", source="Orphanet:1388/e"} xref: NORD:901 {source="MONDO:NORD"} xref: OMIM:302380 {source="MONDO:equivalentObsolete", source="Orphanet:1388", source="Orphanet:1388/nd"} @@ -319873,6 +321911,7 @@ synonym: "Treft-Sanborn-Carey syndrome" RELATED [GARD:0005243] xref: DOID:0111340 {source="MONDO:equivalentTo"} xref: GARD:5243 {source="Orphanet:1215"} xref: ICD10CM:H47.2 {source="Orphanet:1215", source="Orphanet:1215/attributed", source="Orphanet:1215/ntbt"} +xref: icd11.foundation:1149710475 {source="MONDO:equivalentTo"} xref: MESH:C535351 {source="Orphanet:1215", source="Orphanet:1215/e"} xref: Orphanet:1215 {source="MONDO:equivalentTo"} xref: SCTID:715374003 {source="MONDO:equivalentTo"} @@ -321988,6 +324027,7 @@ synonym: "syndrome with combined immunodeficiency caused by mutation in IKZF1" E xref: DOID:0081155 {source="MONDO:equivalentTo"} xref: GARD:17442 {source="Orphanet:317473"} xref: ICD10CM:D81.8 {source="Orphanet:317473", source="Orphanet:317473/attributed", source="Orphanet:317473/ntbt"} +xref: icd11.foundation:1240674590 {source="MONDO:equivalentTo"} xref: OMIM:616873 {source="MONDO:equivalentTo", source="Orphanet:317473", source="Orphanet:317473/e"} xref: Orphanet:317473 {source="MONDO:equivalentTo"} xref: UMLS:C4225173 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -326191,6 +328231,7 @@ synonym: "GLYCINE encephalopathy with normal serum GLYCINE" RELATED [OMIM:617301 synonym: "Glycine encephalopathy with normal serum Glycine" RELATED [OMIM:617301] xref: GARD:17334 {source="Orphanet:289863"} xref: ICD10CM:E72.5 {source="Orphanet:289863/attributed", source="Orphanet:289863/ntbt", source="Orphanet:289863"} +xref: icd11.foundation:51420481 {source="MONDO:equivalentTo"} xref: OMIM:617301 {source="Orphanet:289863", source="MONDO:equivalentTo"} xref: Orphanet:289863 {source="MONDO:equivalentTo"} xref: UMLS:C4310943 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} @@ -326538,6 +328579,7 @@ synonym: "FIHP" EXACT ABBREVIATION [NCIT:C94830] synonym: "FIHPT" EXACT ABBREVIATION [Orphanet:99879] xref: GARD:16923 {source="Orphanet:99879"} xref: ICD10CM:E21.0 {source="Orphanet:99879", source="Orphanet:99879/attributed", source="Orphanet:99879/ntbt"} +xref: icd11.foundation:1799621215 {source="MONDO:equivalentTo"} xref: NCIT:C94830 {source="MONDO:equivalentTo"} xref: Orphanet:99879 {source="MONDO:equivalentTo"} xref: UMLS:C4551961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -326583,6 +328625,7 @@ subset: ordo_clinical_subtype {source="Orphanet:100000"} subset: orphanet_rare {source="Orphanet:100000"} subset: rare xref: GARD:19728 {source="Orphanet:100000"} +xref: icd11.foundation:9105270 {source="MONDO:equivalentTo"} xref: Orphanet:100000 {source="MONDO:equivalentTo"} xref: UMLS:CN197319 {source="MONDO:equivalentTo"} is_a: MONDO:0015031 {source="Orphanet:100000"} ! extraneural perineurioma @@ -326596,6 +328639,7 @@ subset: ordo_clinical_subtype {source="Orphanet:100001"} subset: orphanet_rare {source="Orphanet:100001"} subset: rare xref: GARD:19729 {source="Orphanet:100001"} +xref: icd11.foundation:924438028 {source="MONDO:equivalentTo"} xref: Orphanet:100001 {source="MONDO:equivalentTo"} xref: UMLS:CN197320 {source="MONDO:equivalentTo"} is_a: MONDO:0015031 {source="Orphanet:100001"} ! extraneural perineurioma @@ -326611,6 +328655,7 @@ subset: orphanet_rare {source="Orphanet:100002"} subset: rare synonym: "soft tissue perineurioma" EXACT [Orphanet:100002] xref: GARD:19730 {source="Orphanet:100002"} +xref: icd11.foundation:691853283 {source="MONDO:equivalentTo"} xref: NCIT:C6912 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo"} xref: Orphanet:100002 {source="MONDO:equivalentTo"} xref: SCTID:768926005 {source="MONDO:equivalentTo"} @@ -326630,6 +328675,8 @@ synonym: "intraneural perineurioma" EXACT [DOID:4696, NCIT:C6911] synonym: "intraneural perineurioma (WHO grade I)" EXACT [NCIT:C6911] xref: DOID:4696 {source="MONDO:equivalentTo"} xref: GARD:10921 {source="Orphanet:100003"} +xref: icd11.foundation:1727229828 {source="MONDO:equivalentTo"} +xref: icd11.foundation:362421359 {source="MONDO:equivalentTo"} xref: NCIT:C6911 {source="DOID:4696", source="MONDO:equivalentTo"} xref: Orphanet:100003 {source="MONDO:equivalentTo"} xref: SCTID:128795001 {source="DOID:4696"} @@ -326677,6 +328724,7 @@ subset: orphanet_rare {source="Orphanet:100011"} subset: rare xref: GARD:19731 {source="Orphanet:100011"} xref: ICD10CM:Q04.3 {source="Orphanet:100011", source="Orphanet:100011/attributed", source="Orphanet:100011/ntbt"} +xref: icd11.foundation:853428618 {source="MONDO:equivalentTo"} xref: Orphanet:100011 {source="MONDO:equivalentTo"} xref: UMLS:C5191423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019450 {source="Orphanet:100011"} ! lissencephaly with cerebellar hypoplasia @@ -326692,6 +328740,7 @@ subset: orphanet_rare {source="Orphanet:100012"} subset: rare xref: GARD:19732 {source="Orphanet:100012"} xref: ICD10CM:Q04.3 {source="Orphanet:100012/attributed", source="Orphanet:100012/ntbt", source="Orphanet:100012"} +xref: icd11.foundation:1056934902 {source="MONDO:equivalentTo"} xref: Orphanet:100012 {source="MONDO:equivalentTo"} xref: SCTID:715819005 {source="MONDO:equivalentTo"} xref: UMLS:C4274993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -326708,6 +328757,7 @@ subset: orphanet_rare {source="Orphanet:100013"} subset: rare xref: GARD:19733 {source="Orphanet:100013"} xref: ICD10CM:Q04.3 {source="Orphanet:100013", source="Orphanet:100013/attributed", source="Orphanet:100013/ntbt"} +xref: icd11.foundation:1837040262 {source="MONDO:equivalentTo"} xref: Orphanet:100013 {source="MONDO:equivalentTo"} xref: SCTID:715820004 {source="MONDO:equivalentTo"} xref: UMLS:C4274992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -326724,6 +328774,7 @@ subset: orphanet_rare {source="Orphanet:100014"} subset: rare xref: GARD:19734 {source="Orphanet:100014"} xref: ICD10CM:Q04.3 {source="Orphanet:100014/attributed", source="Orphanet:100014/ntbt", source="Orphanet:100014"} +xref: icd11.foundation:1633599738 {source="MONDO:equivalentTo"} xref: Orphanet:100014 {source="MONDO:equivalentTo"} xref: SCTID:715821000 {source="MONDO:equivalentTo"} xref: UMLS:C4274991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -326740,6 +328791,7 @@ subset: orphanet_rare {source="Orphanet:100015"} subset: rare xref: GARD:19735 {source="Orphanet:100015"} xref: ICD10CM:Q04.3 {source="Orphanet:100015/attributed", source="Orphanet:100015/ntbt", source="Orphanet:100015"} +xref: icd11.foundation:252327835 {source="MONDO:equivalentTo"} xref: Orphanet:100015 {source="MONDO:equivalentTo"} xref: UMLS:C5191422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019450 {source="Orphanet:100015"} ! lissencephaly with cerebellar hypoplasia @@ -326755,6 +328807,7 @@ subset: orphanet_rare {source="Orphanet:100016"} subset: rare xref: GARD:19736 {source="Orphanet:100016"} xref: ICD10CM:Q04.3 {source="Orphanet:100016", source="Orphanet:100016/attributed", source="Orphanet:100016/ntbt"} +xref: icd11.foundation:468664200 {source="MONDO:equivalentTo"} xref: Orphanet:100016 {source="MONDO:equivalentTo"} xref: SCTID:715822007 {source="MONDO:equivalentTo"} xref: UMLS:C4274989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -326957,6 +329010,7 @@ subset: rare synonym: "hepatic solitary necrotic nodule" EXACT [Orphanet:100035] xref: GARD:19743 {source="Orphanet:100035"} xref: ICD10CM:D13.4 {source="Orphanet:100035", source="Orphanet:100035/ntbt"} +xref: icd11.foundation:209168589 {source="MONDO:equivalentTo"} xref: Orphanet:100035 {source="MONDO:equivalentTo"} xref: SCTID:447058001 {source="MONDO:equivalentTo"} xref: UMLS:CN197336 {source="MONDO:equivalentTo"} @@ -327732,6 +329786,7 @@ subset: rare synonym: "BSI" EXACT ABBREVIATION [Orphanet:100976] xref: GARD:16938 {source="Orphanet:100976"} xref: ICD10CM:Q80.2 {source="Orphanet:100976", source="Orphanet:100976/attributed", source="Orphanet:100976/ntbt"} +xref: icd11.foundation:174005370 {source="MONDO:equivalentTo"} xref: Orphanet:100976 {source="MONDO:equivalentTo"} xref: SCTID:725588002 {source="MONDO:equivalentTo"} xref: UMLS:C4511230 {source="MONDO:equivalentTo"} @@ -327866,6 +329921,7 @@ synonym: "spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndro synonym: "spastic paraplegia 9" RELATED [GARD:0009583] synonym: "SPG9" EXACT ABBREVIATION [Orphanet:100990] xref: ICD10CM:G11.4 {source="Orphanet:100990", source="Orphanet:100990/attributed", source="Orphanet:100990/ntbt"} +xref: icd11.foundation:1867328407 {source="MONDO:equivalentTo"} xref: MESH:C536868 {source="Orphanet:100990", source="Orphanet:100990/e"} xref: Orphanet:100990 {source="MONDO:equivalentObsolete"} xref: UMLS:C1832669 {source="Orphanet:100990", source="Orphanet:100990/e", source="MONDO:notFoundInDiseaseSubset"} @@ -327884,6 +329940,7 @@ subset: orphanet_rare {source="Orphanet:101023"} subset: rare xref: GARD:19774 {source="Orphanet:101023"} xref: ICD10CM:Q35.1 {source="Orphanet:101023", source="MONDO:equivalentTo", source="Orphanet:101023/e"} +xref: icd11.foundation:1047415764 {source="MONDO:equivalentTo"} xref: icd11.foundation:1047415764 {source="Orphanet:101023", source="MONDO:equivalentTo"} xref: Orphanet:101023 {source="MONDO:equivalentTo"} xref: SCTID:448915004 {source="MONDO:equivalentTo"} @@ -327899,6 +329956,7 @@ subset: orphanet_rare {source="Orphanet:101029"} subset: rare xref: GARD:19775 {source="Orphanet:101029"} xref: ICD10CM:Q04.8 {source="Orphanet:101029", source="Orphanet:101029/attributed", source="Orphanet:101029/ntbt"} +xref: icd11.foundation:1683302159 {source="MONDO:equivalentTo"} xref: Orphanet:101029 {source="MONDO:equivalentTo"} is_a: MONDO:0016292 {source="Orphanet:101029"} ! nodular neuronal heterotopia @@ -327912,6 +329970,7 @@ subset: orphanet_rare {source="Orphanet:101030"} subset: rare xref: GARD:5050 {source="Orphanet:101030"} xref: ICD10CM:Q04.8 {source="Orphanet:101030/attributed", source="Orphanet:101030/ntbt", source="Orphanet:101030"} +xref: icd11.foundation:1752491379 {source="MONDO:equivalentTo"} xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10071150 {source="Orphanet:101030/e", source="Orphanet:101030"} xref: Orphanet:101030 {source="MONDO:equivalentTo"} @@ -327983,6 +330042,7 @@ subset: orphanet_rare {source="Orphanet:101071"} subset: rare xref: GARD:19777 {source="Orphanet:101071"} xref: ICD10CM:Q04.3 {source="Orphanet:101071/attributed", source="Orphanet:101071/ntbt", source="Orphanet:101071"} +xref: icd11.foundation:1318599015 {source="MONDO:equivalentTo"} xref: Orphanet:101071 {source="MONDO:equivalentTo"} is_a: MONDO:0017092 {source="Orphanet:101071"} ! unilateral polymicrogyria @@ -328011,6 +330071,7 @@ subset: orphanet_rare {source="Orphanet:101104"} subset: rare xref: GARD:19779 {source="Orphanet:101104"} xref: ICD10CM:Q07.8 {source="Orphanet:101104/attributed", source="Orphanet:101104/ntbt", source="Orphanet:101104"} +xref: icd11.foundation:727922687 {source="MONDO:equivalentTo"} xref: Orphanet:101104 {source="MONDO:equivalentTo"} xref: UMLS:CN197448 {source="MONDO:equivalentTo"} is_a: MONDO:0007946 {source="Orphanet:101104"} ! jaw-winking syndrome @@ -328059,6 +330120,7 @@ synonym: "porphyria cutania tarda" RELATED [ONCOTREE:PCT] xref: DOID:3132 {source="MONDO:equivalentTo"} xref: GARD:7433 {source="Orphanet:101330"} xref: ICD10CM:E80.1 {source="DOID:3132", source="Orphanet:101330", source="Orphanet:101330/e", source="Orphanet:101330/specific"} +xref: icd11.foundation:370983230 {source="MONDO:equivalentTo"} xref: icd11.foundation:370983230 {source="Orphanet:101330", source="MONDO:equivalentTo"} xref: MedDRA:10036183 {source="Orphanet:101330", source="Orphanet:101330/e"} xref: MESH:D017119 {source="DOID:3132", source="Orphanet:101330", source="MONDO:equivalentTo", source="Orphanet:101330/e"} @@ -328794,6 +330856,7 @@ synonym: "lissencephaly sequence isolated" RELATED [GARD:0005049] synonym: "lissencephaly type 1" EXACT [Orphanet:102009] xref: GARD:5049 {source="Orphanet:102009"} xref: ICD10CM:Q04.3 {source="Orphanet:102009/inclusion", source="Orphanet:102009", source="Orphanet:102009/ntbt"} +xref: icd11.foundation:570001324 {source="MONDO:equivalentTo"} xref: Orphanet:102009 {source="MONDO:equivalentTo"} xref: UMLS:C0431375 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:102009", source="Orphanet:102009/e"} xref: UMLS:C1843916 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:102009", source="Orphanet:102009/e"} @@ -328827,6 +330890,7 @@ subset: rare xref: DOID:0112232 {source="MONDO:equivalentTo"} xref: GARD:19821 {source="Orphanet:102011"} xref: ICD10CM:Q04.3 {source="Orphanet:102011/ntbt", source="Orphanet:102011/inclusion", source="Orphanet:102011"} +xref: icd11.foundation:1533765623 {source="MONDO:equivalentTo"} xref: Orphanet:102011 {source="MONDO:equivalentTo"} xref: UMLS:C1969029 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:102011"} is_a: MONDO:0018838 {source="Orphanet:102011"} ! lissencephaly spectrum disorders @@ -329091,6 +331155,7 @@ subset: orphanet_rare {source="Orphanet:102379"} subset: rare synonym: "AML and myelodysplastic syndromes related to alkylating agent" EXACT [Orphanet:102379] xref: GARD:19835 {source="Orphanet:102379"} +xref: icd11.foundation:1401970160 {source="MONDO:equivalentTo"} xref: Orphanet:102379 {source="MONDO:equivalentTo"} xref: UMLS:CN197504 {source="MONDO:equivalentTo"} is_a: MONDO:0019457 {source="Orphanet:102379"} ! therapy related acute myeloid leukemia and myelodysplastic syndrome @@ -329108,6 +331173,7 @@ subset: rare synonym: "AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor" EXACT [Orphanet:102381] xref: GARD:19836 {source="Orphanet:102381"} xref: ICD10CM:C92.0 {source="Orphanet:102381", source="Orphanet:102381/ntbt"} +xref: icd11.foundation:88207494 {source="MONDO:equivalentTo"} xref: Orphanet:102381 {source="MONDO:equivalentTo"} xref: UMLS:CN197505 {source="MONDO:equivalentTo"} is_a: MONDO:0019457 {source="Orphanet:102381"} ! therapy related acute myeloid leukemia and myelodysplastic syndrome @@ -329124,6 +331190,7 @@ subset: rare synonym: "AML with t(8;21)(q22;q22) translocation" EXACT [Orphanet:102724] xref: GARD:19837 {source="Orphanet:102724"} xref: ICD10CM:C92.0 {source="Orphanet:102724", source="Orphanet:102724/ntbt"} +xref: icd11.foundation:1075154059 {source="MONDO:equivalentTo"} xref: Orphanet:102724 {source="MONDO:equivalentTo"} is_a: MONDO:0018874 {source="Orphanet:102724"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -329209,6 +331276,7 @@ synonym: "Rossi syndrome" RELATED [GARD:0000777] xref: DOID:0080954 {source="MONDO:equivalentTo"} xref: GARD:777 {source="Orphanet:1037"} xref: ICD10CM:Q74.3 {source="Orphanet:1037", source="Orphanet:1037/e", source="Orphanet:1037/specific"} +xref: icd11.foundation:1930990330 {source="MONDO:equivalentTo"} xref: icd11.foundation:1930990330 {source="Orphanet:1037", source="MONDO:equivalentTo"} xref: MedDRA:10051643 {source="Orphanet:1037", source="Orphanet:1037/e"} xref: MESH:C536613 {source="Orphanet:1037", source="Orphanet:1037/e"} @@ -329310,6 +331378,7 @@ subset: ordo_disease {source="Orphanet:103917"} subset: orphanet_rare {source="Orphanet:103917"} subset: rare xref: ICD10CM:K52.8 {source="Orphanet:103917/ntbt", source="Orphanet:103917"} +xref: icd11.foundation:1137579941 {source="MONDO:equivalentTo"} xref: Orphanet:103917 {source="MONDO:equivalentObsolete"} xref: UMLS:CN226617 {source="MONDO:equivalentTo"} is_a: MONDO:0019787 {source="Orphanet:103917"} ! autoimmune enteropathy @@ -329328,6 +331397,7 @@ synonym: "lymphoplasmocytic sclerosing pancreatitis" RELATED [GARD:0010911] xref: DOID:0040091 {source="MONDO:equivalentTo"} xref: GARD:10911 {source="Orphanet:103919"} xref: ICD10CM:K86.1 {source="Orphanet:103919/ntbt", source="Orphanet:103919"} +xref: icd11.foundation:2057951941 {source="MONDO:equivalentTo"} xref: icd11.foundation:2057951941 {source="MONDO:equivalentTo", source="Orphanet:103919"} xref: MedDRA:10069002 {source="Orphanet:103919/e", source="Orphanet:103919"} xref: MESH:D000081012 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} @@ -329374,6 +331444,7 @@ synonym: "Maroteaux-Verloes-Stanescu syndrome" EXACT [Orphanet:1040] synonym: "regressive metaphyseal dysplasia" EXACT [GARD:0003562, Orphanet:1040] xref: GARD:3562 {source="Orphanet:1040"} xref: ICD10CM:Q78.5 {source="Orphanet:1040/attributed", source="Orphanet:1040/ntbt", source="Orphanet:1040"} +xref: icd11.foundation:327336919 {source="MONDO:equivalentTo"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537351 {source="Orphanet:1040/e", source="MONDO:equivalentTo", source="Orphanet:1040"} xref: OMIM:309645 {source="MONDO:equivalentObsolete", source="GARD:0003562"} @@ -329464,6 +331535,7 @@ synonym: "acquired short bowel syndrome" EXACT [DOID:10605] synonym: "short gut syndrome" EXACT [DOID:10605] xref: DOID:10605 {source="MONDO:equivalentTo"} xref: GARD:1502 {source="Orphanet:104008"} +xref: icd11.foundation:780637678 {source="MONDO:equivalentTo"} xref: icd11.foundation:780637678 {source="Orphanet:104008", source="MONDO:equivalentTo"} xref: ICD9:579.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10049416 {source="Orphanet:104008", source="Orphanet:104008/e"} @@ -329588,6 +331660,7 @@ subset: orphanet_rare {source="Orphanet:104077"} subset: rare xref: GARD:19853 {source="Orphanet:104077"} xref: ICD10CM:K59.8 {source="Orphanet:104077/attributed", source="Orphanet:104077/ntbt", source="Orphanet:104077"} +xref: icd11.foundation:1007742014 {source="MONDO:equivalentTo"} xref: Orphanet:104077 {source="MONDO:equivalentTo"} is_a: MONDO:0017574 {source="Orphanet:104077"} ! chronic intestinal pseudoobstruction @@ -329715,6 +331788,7 @@ synonym: "vein of Galen arteriovenous malformations" EXACT [Orphanet:1053] synonym: "VGAM" RELATED ABBREVIATION [GARD:0005467] xref: GARD:5467 {source="Orphanet:1053"} xref: ICD10CM:Q28.2 {source="Orphanet:1053/ntbt", source="Orphanet:1053"} +xref: icd11.foundation:1884295064 {source="MONDO:equivalentTo"} xref: icd11.foundation:1884295064 {source="MONDO:equivalentTo", source="Orphanet:1053"} xref: MESH:C536535 {source="Orphanet:1053/e", source="MONDO:equivalentTo", source="Orphanet:1053"} xref: Orphanet:1053 {source="MONDO:equivalentTo"} @@ -329816,6 +331890,7 @@ xref: EFO:0007146 {source="MONDO:equivalentTo"} xref: GARD:693 {source="Orphanet:1070"} xref: ICD10CM:B81.0 {source="Orphanet:1070/e", source="MONDO:equivalentTo", source="Orphanet:1070", source="DOID:7033"} xref: icd11.foundation:2005274000 {source="MONDO:equivalentTo", source="Orphanet:1070"} +xref: icd11.foundation:2005274000 {source="MONDO:equivalentTo"} xref: ICD9:127.1 {source="DOID:7033"} xref: MedDRA:10002533 {source="Orphanet:1070/e", source="Orphanet:1070"} xref: MESH:D017129 {source="Orphanet:1070/e", source="MONDO:equivalentTo", source="Orphanet:1070", source="DOID:7033", source="EFO:0007146"} @@ -329893,6 +331968,7 @@ subset: rare xref: DOID:0112234 {source="MONDO:equivalentTo"} xref: GARD:16555 {source="Orphanet:1083"} xref: ICD10CM:Q04.3 {source="Orphanet:1083/inclusion", source="Orphanet:1083/ntbt", source="Orphanet:1083"} +xref: icd11.foundation:169315445 {source="MONDO:equivalentTo"} xref: Orphanet:1083 {source="MONDO:equivalentTo"} xref: UMLS:C1956147 {source="MONDO:equivalentTo", source="Orphanet:1083"} is_a: MONDO:0018838 {source="Orphanet:1083"} ! lissencephaly spectrum disorders @@ -329908,6 +331984,7 @@ subset: orphanet_rare {source="Orphanet:1084"} subset: rare xref: GARD:18715 {source="Orphanet:1084"} xref: ICD10CM:Q04.3 {source="Orphanet:1084/attributed", source="Orphanet:1084/ntbt", source="Orphanet:1084"} +xref: icd11.foundation:80358651 {source="MONDO:equivalentTo"} xref: Orphanet:1084 {source="MONDO:equivalentTo"} xref: SCTID:715406003 {source="MONDO:equivalentTo"} xref: UMLS:C4275151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -330266,6 +332343,7 @@ synonym: "poly-X" EXACT [Orphanet:11] synonym: "XXXXX syndrome" EXACT [NCIT:C89802] xref: GARD:5678 {source="Orphanet:11"} xref: ICD10CM:Q97.1 {source="Orphanet:11/attributed", source="Orphanet:11/ntbt", source="Orphanet:11"} +xref: icd11.foundation:2087864894 {source="MONDO:equivalentTo"} xref: MESH:C535319 {source="Orphanet:11", source="MONDO:equivalentTo", source="Orphanet:11/e"} xref: NCIT:C89802 {source="MONDO:equivalentTo"} xref: NORD:1565 {source="MONDO:NORD"} @@ -330295,6 +332373,7 @@ xref: DOID:1935 {source="MONDO:equivalentTo"} xref: GARD:6866 {source="Orphanet:110"} xref: ICD10CM:Q87.8 {source="Orphanet:110/inclusion", source="Orphanet:110/ntbt", source="Orphanet:110"} xref: ICD10CM:Q87.89 {source="DOID:1935"} +xref: icd11.foundation:255526264 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10056715 {source="Orphanet:110/e", source="Orphanet:110"} xref: MESH:D020788 {source="Orphanet:110/e", source="MONDO:equivalentTo", source="DOID:1935", source="Orphanet:110"} @@ -330364,6 +332443,7 @@ xref: GARD:5893 {source="Orphanet:112"} xref: ICD10CM:E26.8 {source="Orphanet:112/ntbt", source="Orphanet:112/inclusion", source="Orphanet:112"} xref: ICD10CM:E26.81 {source="DOID:445"} xref: icd11.foundation:777233947 {source="MONDO:equivalentTo", source="Orphanet:112"} +xref: icd11.foundation:777233947 {source="MONDO:equivalentTo"} xref: ICD9:255.13 {source="DOID:445", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10050839 {source="Orphanet:112/e", source="Orphanet:112"} xref: MESH:D001477 {source="DOID:445", source="Orphanet:112/e", source="MONDO:equivalentTo", source="Orphanet:112"} @@ -330500,6 +332580,7 @@ synonym: "Nose agenesis" EXACT [Orphanet:1134] xref: GARD:364 {source="Orphanet:1134"} xref: ICD10CM:Q30.1 {source="Orphanet:1134", source="Orphanet:1134/ntbt"} xref: icd11.foundation:409489963 {source="Orphanet:1134", source="MONDO:equivalentTo"} +xref: icd11.foundation:409489963 {source="MONDO:equivalentTo"} xref: ICD9:748.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537438 {source="Orphanet:1134", source="MONDO:equivalentTo", source="Orphanet:1134/e"} xref: Orphanet:1134 {source="MONDO:equivalentTo"} @@ -330564,6 +332645,7 @@ synonym: "distal arthrogryposis type 1B (sub-type)" NARROW [GARD:0000787] xref: DOID:0111596 {source="MONDO:equivalentTo"} xref: GARD:787 {source="Orphanet:1146"} xref: ICD10CM:Q68.8 {source="Orphanet:1146/attributed", source="Orphanet:1146/ntbt", source="Orphanet:1146"} +xref: icd11.foundation:1679749810 {source="MONDO:equivalentTo"} xref: MESH:C565097 {source="MONDO:equivalentTo"} xref: Orphanet:1146 {source="GARD:0000787", source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:1146"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -330620,6 +332702,7 @@ xref: GARD:602 {source="Orphanet:1164"} xref: ICD10CM:B44.81 {source="MONDO:equivalentTo", source="DOID:13166"} xref: ICD10EXP:B44.1+ {source="Orphanet:1164", source="Orphanet:1164/ntbt"} xref: ICD10EXP:J99.8* {source="Orphanet:1164", source="Orphanet:1164/ntbt"} +xref: icd11.foundation:1591607082 {source="MONDO:equivalentTo"} xref: ICD9:518.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13166"} xref: MedDRA:10006474 {source="Orphanet:1164", source="Orphanet:1164/e"} xref: MESH:D001229 {source="Orphanet:1164", source="MONDO:equivalentTo", source="Orphanet:1164/e", source="EFO:0007140", source="DOID:13166"} @@ -330909,6 +332992,7 @@ xref: ICD10CM:B65.2 {source="Orphanet:1247", source="Orphanet:1247/btnt"} xref: ICD10CM:B65.3 {source="Orphanet:1247", source="Orphanet:1247/btnt"} xref: ICD10CM:B65.8 {source="Orphanet:1247", source="Orphanet:1247/btnt"} xref: ICD10CM:B65.9 {source="Orphanet:1247", source="Orphanet:1247/btnt"} +xref: icd11.foundation:1194562592 {source="MONDO:equivalentTo"} xref: ICD9:120.8 {source="DOID:1395", source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:120.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10039603 {source="Orphanet:1247", source="Orphanet:1247/e"} @@ -331019,6 +333103,7 @@ xref: DOID:10075 {source="EFO:0007238", source="MONDO:equivalentTo"} xref: EFO:0007238 {source="MONDO:equivalentTo"} xref: GARD:942 {source="Orphanet:128"} xref: ICD10CM:B70.0 {source="Orphanet:128", source="MONDO:equivalentTo", source="Orphanet:128/e", source="DOID:10075"} +xref: icd11.foundation:1679215344 {source="MONDO:equivalentTo"} xref: icd11.foundation:1679215344 {source="Orphanet:128", source="MONDO:equivalentTo"} xref: ICD9:123.4 {source="DOID:10075"} xref: MedDRA:10013029 {source="Orphanet:128", source="Orphanet:128/e"} @@ -331076,6 +333161,7 @@ synonym: "brachyrachia" EXACT [DOID:0050690] xref: DOID:0050690 {source="MONDO:equivalentTo"} xref: GARD:10903 {source="Orphanet:1293"} xref: ICD10CM:Q76.3 {source="Orphanet:1293/attributed", source="Orphanet:1293/ntbt", source="Orphanet:1293"} +xref: icd11.foundation:1255949169 {source="MONDO:equivalentTo"} xref: ICD9:756.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537098 {source="Orphanet:1293/e", source="MONDO:equivalentTo", source="Orphanet:1293"} xref: Orphanet:1293 {source="MONDO:equivalentTo", source="DOID:0050690"} @@ -331107,6 +333193,7 @@ synonym: "SUNDS" EXACT ABBREVIATION [DOID:0050451, Orphanet:130] xref: DOID:0050451 {source="MONDO:equivalentTo"} xref: GARD:1030 {source="Orphanet:130"} xref: ICD10CM:I49.8 {source="DOID:0050451", source="Orphanet:130/e", source="Orphanet:130/inclusion", source="Orphanet:130"} +xref: icd11.foundation:1250136584 {source="MONDO:equivalentTo"} xref: icd11.foundation:1250136584 {source="MONDO:equivalentTo", source="Orphanet:130"} xref: ICD9:746.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10059027 {source="Orphanet:130/e", source="Orphanet:130"} @@ -331276,6 +333363,7 @@ synonym: "sponge kidney" RELATED [GARD:0000232] xref: GARD:232 {source="Orphanet:1309"} xref: ICD10CM:Q61.5 {source="Orphanet:1309/ntbt", source="Orphanet:1309/inclusion", source="Orphanet:1309"} xref: icd11.foundation:1723148250 {source="MONDO:equivalentTo", source="Orphanet:1309"} +xref: icd11.foundation:1723148250 {source="MONDO:equivalentTo"} xref: ICD9:753.17 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10027104 {source="Orphanet:1309/e", source="Orphanet:1309"} xref: MESH:D007691 {source="Orphanet:1309/e", source="MONDO:equivalentTo", source="Orphanet:1309"} @@ -331329,6 +333417,7 @@ synonym: "pseudocholinesterase E1" RELATED [GARD:0007482] synonym: "succinylcholine sensitivity" RELATED [GARD:0007482] synonym: "Suxamethonium sensitivity" RELATED [GARD:0007482, OMIM:617936] xref: GARD:7482 {source="Orphanet:132"} +xref: icd11.foundation:581237559 {source="MONDO:equivalentTo"} xref: ICD9:289.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537417 {source="Orphanet:132/e", source="MONDO:equivalentTo", source="Orphanet:132"} xref: OMIM:617936 {source="MONDO:equivalentTo"} @@ -331543,6 +333632,7 @@ synonym: "pancreatic cancer, somatic" EXACT [OMIM:260350, OMIM:genemap2] synonym: "pancreatic carcinoma, somatic" EXACT [OMIM:260350, OMIM:genemap2] xref: GARD:4206 {source="Orphanet:1333"} xref: ICD10CM:C25 {source="Orphanet:1333/inclusion", source="Orphanet:1333/ntbt", source="Orphanet:1333"} +xref: icd11.foundation:1385362916 {source="MONDO:equivalentTo"} xref: MESH:C535837 {source="Orphanet:1333", source="MONDO:equivalentTo", source="Orphanet:1333/e"} xref: NCIT:C43298 {source="MONDO:equivalentTo"} xref: OMIM:260350 {source="Orphanet:1333/ntbt", source="Orphanet:1333", source="MONDO:equivalentTo"} @@ -331644,6 +333734,7 @@ subset: rare synonym: "atrial cardiomyopathy with heart block" EXACT [Orphanet:1344] xref: GARD:16564 {source="Orphanet:1344"} xref: ICD10CM:I45.5 {source="Orphanet:1344/attributed", source="Orphanet:1344/ntbt", source="Orphanet:1344"} +xref: icd11.foundation:483869734 {source="MONDO:equivalentTo"} xref: ICD9:426.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C563984 {source="MONDO:equivalentTo"} xref: Orphanet:1344 {source="MONDO:equivalentTo"} @@ -331709,6 +333800,7 @@ synonym: "heart-hand syndrome 2" RELATED [GARD:0009847] synonym: "Tabatznik syndrome" EXACT [Orphanet:1350] xref: GARD:9847 {source="Orphanet:1350"} xref: ICD10CM:Q87.2 {source="Orphanet:1350/attributed", source="Orphanet:1350/ntbt", source="Orphanet:1350"} +xref: icd11.foundation:2111612055 {source="MONDO:equivalentTo"} xref: MESH:C536784 {source="MONDO:equivalentTo"} xref: Orphanet:1350 {source="MONDO:equivalentTo"} xref: SCTID:721010003 {source="MONDO:equivalentTo"} @@ -331743,6 +333835,7 @@ synonym: "nevi, atrial myxoma, skin myxoma, ephelides syndrome" EXACT [NCIT:C470 xref: DOID:0050471 {source="MONDO:equivalentTo"} xref: GARD:1119 {source="Orphanet:1359"} xref: ICD10CM:D44.8 {source="MONDO:relatedTo", source="Orphanet:1359", source="Orphanet:1359/attributed", source="Orphanet:1359/ntbt"} +xref: icd11.foundation:1051158630 {source="MONDO:equivalentTo"} xref: MESH:D056733 {source="MONDO:equivalentTo", source="Orphanet:1359", source="DOID:0050471", source="Orphanet:1359/e"} xref: NCIT:C4705 {source="MONDO:equivalentTo", source="DOID:0050471"} xref: Orphanet:1359 {source="MONDO:equivalentTo", source="DOID:0050471"} @@ -331837,6 +333930,7 @@ subset: ordo_disease {source="Orphanet:137593"} subset: orphanet_rare {source="Orphanet:137593"} subset: rare xref: GARD:19877 {source="Orphanet:137593"} +xref: icd11.foundation:2103923676 {source="MONDO:equivalentTo"} xref: Orphanet:137593 {source="MONDO:equivalentTo"} is_a: MONDO:0020950 {source="https://orcid.org/0000-0002-6601-2165"} ! viral eye infection intersection_of: MONDO:0005550 ! infectious disease @@ -331856,6 +333950,7 @@ subset: rare synonym: "neurotrophic keratitis" EXACT [Orphanet:137596] xref: GARD:19878 {source="Orphanet:137596"} xref: ICD10CM:H16.2 {source="MONDO:relatedTo", source="Orphanet:137596/ntbt", source="Orphanet:137596"} +xref: icd11.foundation:1257534118 {source="MONDO:equivalentTo"} xref: MedDRA:10069732 {source="Orphanet:137596/e", source="Orphanet:137596"} xref: Orphanet:137596 {source="MONDO:equivalentTo"} xref: SCTID:128080005 {source="MONDO:equivalentTo"} @@ -331873,6 +333968,7 @@ subset: orphanet_rare {source="Orphanet:137599"} subset: rare xref: GARD:19879 {source="Orphanet:137599"} xref: ICD10CM:H16.3 {source="Orphanet:137599/ntbt", source="Orphanet:137599"} +xref: icd11.foundation:1665288755 {source="MONDO:equivalentTo"} xref: Orphanet:137599 {source="MONDO:equivalentTo"} xref: UMLS:C1318020 {source="Orphanet:137599", source="MONDO:equivalentTo", source="Orphanet:137599/e"} is_a: MONDO:0015288 {source="Orphanet:137599"} ! herpes simplex virus keratitis @@ -331889,6 +333985,7 @@ subset: rare synonym: "endothelium inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "inflammation of endothelium" EXACT [] xref: GARD:19880 {source="Orphanet:137602"} +xref: icd11.foundation:1363910196 {source="MONDO:equivalentTo"} xref: Orphanet:137602 {source="MONDO:equivalentTo"} is_a: MONDO:0015288 {source="Orphanet:137602"} ! herpes simplex virus keratitis intersection_of: MONDO:0000001 ! disease @@ -331929,6 +334026,7 @@ synonym: "NFD" RELATED ABBREVIATION [GARD:0009725] synonym: "NSF" RELATED ABBREVIATION [GARD:0009725] xref: EFO:1001814 {source="MONDO:equivalentTo"} xref: GARD:9725 {source="Orphanet:137617"} +xref: icd11.foundation:1537082562 {source="MONDO:equivalentTo"} xref: ICD9:588.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10067467 {source="Orphanet:137617", source="Orphanet:137617/e"} xref: MESH:D054989 {source="MONDO:equivalentTo"} @@ -331991,6 +334089,7 @@ subset: orphanet_rare {source="Orphanet:137672"} subset: rare xref: GARD:11895 {source="Orphanet:137672"} xref: ICD10CM:H18.7 {source="Orphanet:137672/ntbt", source="Orphanet:137672"} +xref: icd11.foundation:1662005062 {source="MONDO:equivalentTo"} xref: Orphanet:137672 {source="MONDO:equivalentTo"} xref: UMLS:CN199253 {source="MONDO:equivalentTo"} is_a: MONDO:0005328 ! eye disorder @@ -332117,6 +334216,7 @@ subset: rare xref: GARD:19885 {source="Orphanet:137814"} xref: ICD10EXP:E85.4+ {source="Orphanet:137814", source="Orphanet:137814/ntbt"} xref: ICD10EXP:L99.0* {source="Orphanet:137814", source="Orphanet:137814/ntbt"} +xref: icd11.foundation:1192013809 {source="MONDO:equivalentTo"} xref: Orphanet:137814 {source="MONDO:equivalentTo"} xref: UMLS:C0544839 {source="MONDO:equivalentTo"} is_a: MONDO:0015301 {source="Orphanet:137814"} ! primary cutaneous amyloidosis @@ -332138,6 +334238,7 @@ xref: DOID:12156 {source="MONDO:equivalentTo"} xref: GARD:5839 {source="Orphanet:137817"} xref: ICD10CM:G03 {source="DOID:12156"} xref: ICD10CM:G03.9 {source="Orphanet:137817", source="Orphanet:137817/ntbt"} +xref: icd11.foundation:414817254 {source="MONDO:equivalentTo"} xref: icd11.foundation:414817254 {source="MONDO:equivalentTo", source="Orphanet:137817"} xref: MedDRA:10003074 {source="Orphanet:137817/e", source="Orphanet:137817"} xref: MESH:D001100 {source="Orphanet:137817/e", source="MONDO:equivalentTo", source="Orphanet:137817", source="DOID:12156"} @@ -332247,6 +334348,7 @@ subset: orphanet_rare {source="Orphanet:137871"} subset: rare synonym: "laminopathy with severe metabolic syndrome and myopathy" EXACT [Orphanet:137871] xref: ICD10CM:E88.8 {source="Orphanet:137871/attributed", source="Orphanet:137871/ntbt", source="Orphanet:137871"} +xref: icd11.foundation:815630778 {source="MONDO:equivalentTo"} xref: Orphanet:137871 {source="MONDO:equivalentObsolete"} xref: SCTID:724205009 {source="MONDO:equivalentTo"} xref: UMLS:C4518324 {source="MONDO:equivalentTo"} @@ -332301,6 +334403,7 @@ subset: orphanet_rare {source="Orphanet:137917"} subset: rare xref: GARD:19889 {source="Orphanet:137917"} xref: ICD10CM:Q30.0 {source="Orphanet:137917/ntbt", source="Orphanet:137917"} +xref: icd11.foundation:1247369366 {source="MONDO:equivalentTo"} xref: Orphanet:137917 {source="MONDO:equivalentTo"} xref: UMLS:CN199280 {source="MONDO:equivalentTo"} is_a: MONDO:0012155 {source="Orphanet:137917"} ! choanal atresia @@ -332316,6 +334419,7 @@ subset: orphanet_rare {source="Orphanet:137920"} subset: rare xref: GARD:19890 {source="Orphanet:137920"} xref: ICD10CM:Q30.0 {source="Orphanet:137920/ntbt", source="Orphanet:137920"} +xref: icd11.foundation:1138913171 {source="MONDO:equivalentTo"} xref: Orphanet:137920 {source="MONDO:equivalentTo"} xref: UMLS:C4025317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0012155 {source="Orphanet:137920"} ! choanal atresia @@ -332362,6 +334466,7 @@ subset: rare synonym: "congenital vocal cord paralysis" EXACT [Orphanet:137932] xref: GARD:12713 {source="Orphanet:137932"} xref: ICD10CM:J38.0 {source="Orphanet:137932/ntbt", source="Orphanet:137932"} +xref: icd11.foundation:1508780420 {source="MONDO:equivalentTo"} xref: Orphanet:137932 {source="MONDO:equivalentTo"} xref: UMLS:C0396058 {source="Orphanet:137932", source="MONDO:equivalentTo"} is_a: MONDO:0004382 {source="https://orcid.org/0000-0001-5208-3432"} ! laryngeal disorder @@ -332724,6 +334829,7 @@ synonym: "adrenomyeloneuropathy" EXACT CLINGEN_LABEL [Orphanet:139399] synonym: "AMN" EXACT ABBREVIATION [GARD:0010614, OMIM:300100] xref: GARD:10614 {source="Orphanet:139399"} xref: ICD10CM:E71.3 {source="Orphanet:139399/attributed", source="Orphanet:139399/ntbt", source="Orphanet:139399"} +xref: icd11.foundation:1214673956 {source="MONDO:equivalentTo"} xref: OMIM:300100 {source="Orphanet:139399/ntbt", source="MONDO:includedEntryInOMIM", source="Orphanet:139399"} xref: Orphanet:139399 {source="MONDO:equivalentTo"} xref: SCTID:65389002 {source="MONDO:equivalentTo"} @@ -332852,6 +334958,7 @@ subset: orphanet_rare {source="Orphanet:139426"} subset: rare synonym: "POMA" EXACT ABBREVIATION [Orphanet:139426] xref: GARD:19915 {source="Orphanet:139426"} +xref: icd11.foundation:1067045592 {source="MONDO:equivalentTo"} xref: Orphanet:139426 {source="MONDO:equivalentTo"} xref: SCTID:766815007 {source="MONDO:equivalentTo"} is_a: MONDO:0020072 {source="Orphanet:139426"} ! childhood-onset epilepsy syndrome @@ -332871,6 +334978,7 @@ synonym: "epilepsy with eyelid myoclonias" EXACT [https://orcid.org/0000-0001-52 synonym: "eyelid myoclonia with and without absences" EXACT [Orphanet:139431] xref: GARD:19916 {source="Orphanet:139431"} xref: ICD10CM:G40.3 {source="Orphanet:139431/ntbt", source="Orphanet:139431"} +xref: icd11.foundation:262814036 {source="MONDO:equivalentTo"} xref: MedDRA:10084303 xref: NORD:152960 {source="MONDO:NORD"} xref: Orphanet:139431 {source="MONDO:equivalentTo"} @@ -332896,6 +335004,7 @@ xref: DOID:11824 {source="MONDO:equivalentTo"} xref: GARD:7103 {source="Orphanet:139436"} xref: ICD10CM:D76.3 {source="Orphanet:139436/ntbt", source="Orphanet:139436"} xref: ICD10CM:E78.81 {source="DOID:11824"} +xref: icd11.foundation:977116795 {source="MONDO:equivalentTo"} xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:713.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10070595 {source="Orphanet:139436", source="Orphanet:139436/e"} @@ -332919,6 +335028,7 @@ subset: orphanet_rare {source="Orphanet:139444"} subset: rare xref: GARD:19917 {source="Orphanet:139444"} xref: ICD10CM:E75.2 {source="Orphanet:139444/attributed", source="Orphanet:139444/ntbt", source="Orphanet:139444"} +xref: icd11.foundation:138159250 {source="MONDO:equivalentTo"} xref: Orphanet:139444 {source="MONDO:equivalentTo"} is_a: MONDO:0019046 {source="Orphanet:139444"} ! leukodystrophy @@ -332933,6 +335043,7 @@ subset: orphanet_rare {source="Orphanet:139447"} subset: rare xref: GARD:19918 {source="Orphanet:139447"} xref: ICD10CM:E75.2 {source="Orphanet:139447/attributed", source="Orphanet:139447/ntbt", source="Orphanet:139447"} +xref: icd11.foundation:340540374 {source="MONDO:equivalentTo"} xref: Orphanet:139447 {source="MONDO:equivalentTo"} xref: SCTID:719267003 {source="MONDO:equivalentTo"} xref: UMLS:C4304840 {source="MONDO:equivalentTo"} @@ -332980,6 +335091,7 @@ subset: orphanet_rare {source="Orphanet:139512"} subset: rare xref: GARD:19919 {source="Orphanet:139512"} xref: ICD10CM:G60.8 {source="Orphanet:139512", source="Orphanet:139512/attributed", source="Orphanet:139512/ntbt"} +xref: icd11.foundation:129297527 {source="MONDO:equivalentTo"} xref: icd11.foundation:129297527 {source="Orphanet:139512", source="MONDO:equivalentTo"} xref: Orphanet:139512 {source="MONDO:equivalentTo"} xref: SCTID:723497003 {source="MONDO:equivalentTo"} @@ -333004,6 +335116,7 @@ synonym: "dSMA2" EXACT [Orphanet:139525] xref: DOID:0111206 {source="MONDO:equivalentTo"} xref: GARD:16954 {source="Orphanet:139525"} xref: ICD10CM:G12.2 {source="Orphanet:139525", source="Orphanet:139525/attributed", source="Orphanet:139525/ntbt"} +xref: icd11.foundation:152961055 {source="MONDO:equivalentTo"} xref: MESH:C580044 {source="MONDO:equivalentTo"} xref: Orphanet:139525 {source="MONDO:equivalentTo"} xref: UMLS:C1854023 {source="Orphanet:139525", source="MONDO:notFoundInDiseaseSubset"} @@ -333076,6 +335189,7 @@ synonym: "distal spinal muscular atrophy with vocal cord paralysis" EXACT [Orpha xref: DOID:0111199 {source="MONDO:equivalentTo"} xref: GARD:16960 {source="Orphanet:139589"} xref: ICD10CM:G12.2 {source="Orphanet:139589", source="Orphanet:139589/attributed", source="Orphanet:139589/ntbt"} +xref: icd11.foundation:80361835 {source="MONDO:equivalentTo"} xref: Orphanet:139589 {source="MONDO:equivalentTo"} xref: UMLS:C4749653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015362 {source="Orphanet:139589"} ! neuronopathy, distal hereditary motor, autosomal dominant @@ -333150,6 +335264,7 @@ subset: orphanet_rare {source="Orphanet:140450"} subset: rare synonym: "HMSN" EXACT ABBREVIATION [Orphanet:140450] xref: ICD10CM:G60.0 {source="Orphanet:140450", source="Orphanet:140450/specific", source="Orphanet:140450/e"} +xref: icd11.foundation:1538134578 {source="MONDO:equivalentTo"} xref: MESH:D015417 {source="Orphanet:140450", source="MONDO:equivalentTo", source="Orphanet:140450/e"} xref: Orphanet:140450 {source="MONDO:equivalentObsolete"} xref: SCTID:398100001 {source="MONDO:equivalentTo"} @@ -333335,6 +335450,7 @@ subset: orphanet_rare {source="Orphanet:1406"} subset: rare xref: GARD:1261 {source="Orphanet:1406"} xref: ICD10CM:Q87.0 {source="Orphanet:1406", source="Orphanet:1406/attributed", source="Orphanet:1406/ntbt"} +xref: icd11.foundation:1284734481 {source="MONDO:equivalentTo"} xref: Orphanet:1406 {source="MONDO:equivalentTo"} xref: SCTID:733034007 {source="MONDO:equivalentTo"} xref: UMLS:C0221060 {source="GARD:0001261", source="MONDO:directSiblingOf"} @@ -333384,6 +335500,7 @@ subset: orphanet_rare {source="Orphanet:140933"} subset: rare xref: GARD:19932 {source="Orphanet:140933"} xref: ICD10CM:L90.8 {source="Orphanet:140933/attributed", source="Orphanet:140933/ntbt", source="Orphanet:140933"} +xref: icd11.foundation:1116101506 {source="MONDO:equivalentTo"} xref: Orphanet:140933 {source="MONDO:equivalentTo"} xref: SCTID:403395007 {source="MONDO:equivalentTo"} xref: UMLS:C1274753 {source="Orphanet:140933/e", source="MONDO:equivalentTo", source="Orphanet:140933"} @@ -333495,6 +335612,7 @@ synonym: "first branchial cleft cyst" EXACT [Orphanet:141013] synonym: "first branchial cleft fistula" EXACT [Orphanet:141013] xref: GARD:19934 {source="Orphanet:141013"} xref: ICD10CM:Q18.0 {source="Orphanet:141013", source="Orphanet:141013/ntbt"} +xref: icd11.foundation:1956658224 {source="MONDO:equivalentTo"} xref: Orphanet:141013 {source="MONDO:equivalentTo"} xref: SCTID:73371000119103 {source="MONDO:equivalentTo"} is_a: MONDO:0015476 {source="Orphanet:141013"} ! cysts and fistulae of the face and oral cavity @@ -333580,6 +335698,7 @@ synonym: "cysts and fistulae of the face and oral cavity of labial commissure" E synonym: "labial commissure cysts and fistulae of the face and oral cavity" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: GARD:19939 {source="Orphanet:141061"} xref: ICD10CM:Q38.0 {source="Orphanet:141061/ntbt", source="Orphanet:141061"} +xref: icd11.foundation:27017896 {source="MONDO:equivalentTo"} xref: Orphanet:141061 {source="MONDO:equivalentTo"} is_a: MONDO:0015476 {source="MONDO:Redundant", source="Orphanet:141061"} ! cysts and fistulae of the face and oral cavity intersection_of: MONDO:0015476 ! cysts and fistulae of the face and oral cavity @@ -333598,6 +335717,7 @@ synonym: "cysts and fistulae of the face and oral cavity of lower lip" EXACT [MO synonym: "lower lip cysts and fistulae of the face and oral cavity" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: GARD:19940 {source="Orphanet:141064"} xref: ICD10CM:Q38.0 {source="Orphanet:141064/ntbt", source="Orphanet:141064"} +xref: icd11.foundation:230523092 {source="MONDO:equivalentTo"} xref: Orphanet:141064 {source="MONDO:equivalentTo"} is_a: MONDO:0015476 {source="MONDO:Redundant", source="Orphanet:141064"} ! cysts and fistulae of the face and oral cavity intersection_of: MONDO:0015476 ! cysts and fistulae of the face and oral cavity @@ -333613,6 +335733,7 @@ subset: orphanet_rare {source="Orphanet:141067"} subset: rare synonym: "cervicofacial enchondroma" EXACT [Orphanet:141067] xref: GARD:19941 {source="Orphanet:141067"} +xref: icd11.foundation:427530222 {source="MONDO:equivalentTo"} xref: Orphanet:141067 {source="MONDO:equivalentTo"} is_a: MONDO:0015476 {source="Orphanet:141067"} ! cysts and fistulae of the face and oral cavity @@ -333669,6 +335790,7 @@ synonym: "oropharyngeal teratoma" EXACT [Orphanet:141077] xref: GARD:19943 {source="Orphanet:141077"} xref: HP:0030767 {source="MONDO:otherHierarchy"} xref: ICD10CM:D37.0 {source="Orphanet:141077/ntbt", source="Orphanet:141077"} +xref: icd11.foundation:7319064 {source="MONDO:equivalentTo"} xref: Orphanet:141077 {source="MONDO:equivalentTo"} xref: SCTID:31248004 {source="MONDO:equivalentTo"} xref: UMLS:C0266725 {source="Orphanet:141077", source="MONDO:equivalentTo", source="Orphanet:141077/e"} @@ -333709,6 +335831,7 @@ synonym: "Double nose" EXACT [Orphanet:141091] synonym: "Polyrhinia" EXACT [Orphanet:141091] xref: GARD:19945 {source="Orphanet:141091"} xref: ICD10CM:Q30.8 {source="Orphanet:141091/ntbt", source="Orphanet:141091"} +xref: icd11.foundation:142812177 {source="MONDO:equivalentTo"} xref: Orphanet:141091 {source="MONDO:equivalentTo"} xref: SCTID:716279002 {source="MONDO:equivalentTo"} is_a: MONDO:0024623 {source="https://orcid.org/0000-0001-5208-3432"} ! otorhinolaryngologic disease @@ -333727,6 +335850,7 @@ synonym: "supernumerary naris" EXACT [HP:0009934] xref: GARD:19946 {source="Orphanet:141096"} xref: HP:0009934 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q30.8 {source="Orphanet:141096", source="Orphanet:141096/ntbt"} +xref: icd11.foundation:306735786 {source="MONDO:equivalentTo"} xref: Orphanet:141096 {source="MONDO:equivalentTo"} xref: SCTID:719163006 {source="MONDO:equivalentTo"} xref: UMLS:C4021372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -333744,6 +335868,7 @@ subset: rare synonym: "congenital tubular nose" EXACT [Orphanet:141099] xref: GARD:19947 {source="Orphanet:141099"} xref: ICD10CM:Q30.8 {source="Orphanet:141099/ntbt", source="Orphanet:141099"} +xref: icd11.foundation:646148612 {source="MONDO:equivalentTo"} xref: Orphanet:141099 {source="MONDO:equivalentTo"} xref: SCTID:715828006 {source="MONDO:equivalentTo"} xref: UMLS:C4274985 {source="MONDO:equivalentTo"} @@ -333762,6 +335887,7 @@ synonym: "nasopharynx teratoma" EXACT [MONDO:patterns/location] synonym: "teratoma of the nasopharynx" EXACT [Orphanet:141107] xref: GARD:19948 {source="Orphanet:141107"} xref: ICD10CM:D10.6 {source="MONDO:relatedTo", source="Orphanet:141107/ntbt", source="Orphanet:141107"} +xref: icd11.foundation:1597380817 {source="MONDO:equivalentTo"} xref: Orphanet:141107 {source="MONDO:equivalentTo"} xref: UMLS:C4531264 {source="MONDO:equivalentTo"} is_a: MONDO:0005586 {source="MONDO:0020035-obsoleted"} ! head and neck neoplasm @@ -333781,6 +335907,7 @@ subset: orphanet_rare {source="Orphanet:141112"} subset: rare synonym: "nasal glioma" EXACT [Orphanet:141112] xref: GARD:19949 {source="Orphanet:141112"} +xref: icd11.foundation:1449384774 {source="MONDO:equivalentTo"} xref: ICD9:748.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:141112 {source="MONDO:equivalentTo"} xref: SCTID:5645008 {source="MONDO:equivalentTo"} @@ -333798,6 +335925,7 @@ subset: ordo_clinical_subtype {source="Orphanet:141115"} subset: orphanet_rare {source="Orphanet:141115"} subset: rare xref: GARD:19950 {source="Orphanet:141115"} +xref: icd11.foundation:40917416 {source="MONDO:equivalentTo"} xref: Orphanet:141115 {source="MONDO:equivalentTo"} is_a: MONDO:0005586 {source="MONDO:0020035-obsoleted"} ! head and neck neoplasm is_a: MONDO:0016733 {source="Orphanet:141115"} ! ganglioglioma @@ -333814,6 +335942,7 @@ subset: orphanet_rare {source="Orphanet:141118"} subset: rare xref: GARD:19951 {source="Orphanet:141118"} xref: ICD10CM:Q01.1 {source="Orphanet:141118/specific", source="Orphanet:141118/e", source="Orphanet:141118"} +xref: icd11.foundation:884932601 {source="MONDO:equivalentTo"} xref: Orphanet:141118 {source="MONDO:equivalentTo"} xref: SCTID:65455002 {source="MONDO:equivalentTo"} xref: UMLS:C0014066 {source="Orphanet:141118/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:141118"} @@ -333831,6 +335960,7 @@ subset: rare xref: GARD:19952 {source="Orphanet:141121"} xref: ICD10CM:Q31.1 {source="Orphanet:141121", source="MONDO:equivalentTo", source="Orphanet:141121/e"} xref: icd11.foundation:76585642 {source="Orphanet:141121", source="MONDO:equivalentTo"} +xref: icd11.foundation:76585642 {source="MONDO:equivalentTo"} xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:141121 {source="MONDO:equivalentTo"} xref: SCTID:204552001 {source="MONDO:equivalentTo"} @@ -333853,6 +335983,7 @@ subset: orphanet_rare {source="Orphanet:141124"} subset: rare xref: GARD:19953 {source="Orphanet:141124"} xref: ICD10CM:Q31.8 {source="Orphanet:141124", source="Orphanet:141124/ntbt"} +xref: icd11.foundation:591042640 {source="MONDO:equivalentTo"} xref: Orphanet:141124 {source="MONDO:equivalentTo"} xref: SCTID:765763007 {source="MONDO:equivalentTo"} xref: UMLS:C0339880 {source="MONDO:equivalentTo", source="Orphanet:141124"} @@ -333960,6 +336091,7 @@ subset: rare synonym: "Cosack syndrome" EXACT [Orphanet:141163] xref: GARD:19954 {source="Orphanet:141163"} xref: ICD10CM:Q38.3 {source="Orphanet:141163/attributed", source="Orphanet:141163/ntbt", source="Orphanet:141163"} +xref: icd11.foundation:1608847387 {source="MONDO:equivalentTo"} xref: Orphanet:141163 {source="MONDO:equivalentTo"} xref: SCTID:717814004 {source="MONDO:equivalentTo"} xref: UMLS:C4303569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -333976,6 +336108,7 @@ subset: orphanet_rare {source="Orphanet:141168"} subset: rare xref: GARD:19955 {source="Orphanet:141168"} xref: ICD10CM:Q27.3 {source="Orphanet:141168", source="Orphanet:141168/ntbt"} +xref: icd11.foundation:1779519580 {source="MONDO:equivalentTo"} xref: Orphanet:141168 {source="MONDO:equivalentTo"} is_a: MONDO:0015500 {source="Orphanet:141168"} ! facial arteriovenous malformation @@ -333991,6 +336124,7 @@ subset: rare synonym: "arteriovenous malformation of maxilla" EXACT [Orphanet:141171] xref: GARD:19956 {source="Orphanet:141171"} xref: ICD10CM:Q27.3 {source="Orphanet:141171/ntbt", source="Orphanet:141171"} +xref: icd11.foundation:1755286955 {source="MONDO:equivalentTo"} xref: Orphanet:141171 {source="MONDO:equivalentTo"} xref: SCTID:703335004 {source="MONDO:equivalentTo"} is_a: MONDO:0015500 {source="Orphanet:141171"} ! facial arteriovenous malformation @@ -334007,6 +336141,7 @@ subset: rare synonym: "arteriovenous malformation of mandible" EXACT [Orphanet:141174] xref: GARD:19957 {source="Orphanet:141174"} xref: ICD10CM:Q27.3 {source="Orphanet:141174/ntbt", source="Orphanet:141174"} +xref: icd11.foundation:113998538 {source="MONDO:equivalentTo"} xref: Orphanet:141174 {source="MONDO:equivalentTo"} xref: SCTID:703334000 {source="MONDO:equivalentTo"} is_a: MONDO:0015500 {source="Orphanet:141174"} ! facial arteriovenous malformation @@ -334067,6 +336202,7 @@ subset: rare synonym: "CAMS" EXACT ABBREVIATION [Orphanet:141189] xref: GARD:12662 {source="Orphanet:141189"} xref: ICD10CM:Q28.2 {source="Orphanet:141189", source="Orphanet:141189/ntbt"} +xref: icd11.foundation:1402414905 {source="MONDO:equivalentTo"} xref: Orphanet:141189 {source="MONDO:equivalentTo"} xref: SCTID:703266007 {source="MONDO:equivalentTo"} xref: UMLS:C3839265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -334084,6 +336220,7 @@ subset: rare synonym: "CAMS1" EXACT ABBREVIATION [Orphanet:141194] xref: GARD:19959 {source="Orphanet:141194"} xref: ICD10CM:Q28.2 {source="Orphanet:141194", source="Orphanet:141194/ntbt"} +xref: icd11.foundation:796738143 {source="MONDO:equivalentTo"} xref: Orphanet:141194 {source="MONDO:equivalentTo"} xref: SCTID:703267003 {source="MONDO:equivalentTo"} xref: UMLS:C3840102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -334100,6 +336237,7 @@ subset: rare synonym: "CAMS3" EXACT ABBREVIATION [Orphanet:141199] xref: GARD:19960 {source="Orphanet:141199"} xref: ICD10CM:Q28.2 {source="Orphanet:141199/ntbt", source="Orphanet:141199"} +xref: icd11.foundation:1048965538 {source="MONDO:equivalentTo"} xref: Orphanet:141199 {source="MONDO:equivalentTo"} xref: SCTID:703268008 {source="MONDO:equivalentTo"} xref: UMLS:C3838691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -334234,6 +336372,7 @@ synonym: "isolated coloboma of the nose" EXACT [Orphanet:141242] synonym: "Tessier number 1 cleft" EXACT [Orphanet:141242] xref: GARD:16973 {source="Orphanet:141242"} xref: ICD10CM:Q18.8 {source="Orphanet:141242/ntbt", source="Orphanet:141242"} +xref: icd11.foundation:1147502981 {source="MONDO:equivalentTo"} xref: ICD9:748.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:141242 {source="MONDO:equivalentTo"} xref: SCTID:204521002 {source="MONDO:equivalentTo"} @@ -334264,6 +336403,7 @@ subset: orphanet_rare {source="Orphanet:141261"} subset: rare xref: GARD:19968 {source="Orphanet:141261"} xref: ICD10CM:Q18.8 {source="Orphanet:141261", source="Orphanet:141261/ntbt"} +xref: icd11.foundation:2138256187 {source="MONDO:equivalentTo"} xref: Orphanet:141261 {source="MONDO:equivalentTo"} is_a: MONDO:0015411 {source="PMID:19254060", source="https://orcid.org/0009-0001-6494-4831"} ! facial cleft is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis @@ -334280,6 +336420,7 @@ subset: orphanet_rare {source="Orphanet:141265"} subset: rare xref: GARD:19969 {source="Orphanet:141265"} xref: ICD10CM:Q18.8 {source="Orphanet:141265/ntbt", source="Orphanet:141265"} +xref: icd11.foundation:1934815559 {source="MONDO:equivalentTo"} xref: Orphanet:141265 {source="MONDO:equivalentTo"} is_a: MONDO:0015411 {source="PMID:35285292", source="https://orcid.org/0009-0001-6494-4831"} ! facial cleft is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis @@ -334312,6 +336453,7 @@ subset: orphanet_rare {source="Orphanet:141288"} subset: rare xref: GARD:19971 {source="Orphanet:141288"} xref: ICD10CM:Q18.8 {source="Orphanet:141288", source="Orphanet:141288/ntbt"} +xref: icd11.foundation:1138096311 {source="MONDO:equivalentTo"} xref: ICD9:744.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:141288 {source="MONDO:equivalentTo"} xref: SCTID:403557001 {source="MONDO:equivalentTo"} @@ -334334,6 +336476,7 @@ xref: GARD:16976 {source="Orphanet:141291"} xref: ICD10CM:Q36.0 {source="Orphanet:141291/btnt", source="Orphanet:141291"} xref: ICD10CM:Q36.1 {source="Orphanet:141291/btnt", source="Orphanet:141291"} xref: ICD10CM:Q36.9 {source="Orphanet:141291/btnt", source="Orphanet:141291"} +xref: icd11.foundation:1653169553 {source="MONDO:equivalentTo"} xref: icd11.foundation:1653169553 {source="MONDO:equivalentTo", source="Orphanet:141291"} xref: ICD9:525.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:141291 {source="MONDO:equivalentTo"} @@ -334434,6 +336577,7 @@ synonym: "chondrodysplasia lethal recessive" EXACT [MONDO:0022725] synonym: "Maroteaux-Stanescu-Cousin syndrome" EXACT [Orphanet:1423] xref: GARD:3399 {source="Orphanet:1423"} xref: ICD10CM:Q78.8 {source="Orphanet:1423", source="Orphanet:1423/attributed", source="Orphanet:1423/ntbt"} +xref: icd11.foundation:550352998 {source="MONDO:equivalentTo"} xref: Orphanet:1423 {source="MONDO:equivalentTo"} xref: SCTID:719404009 {source="MONDO:equivalentTo"} xref: UMLS:C4304745 {source="MONDO:equivalentTo"} @@ -335072,6 +337216,7 @@ synonym: "short stature-onychodysplasia." EXACT [DOID:1925] xref: DOID:1925 {source="MONDO:equivalentTo"} xref: GARD:6124 {source="Orphanet:1465"} xref: ICD10CM:Q87.1 {source="Orphanet:1465/attributed", source="Orphanet:1465/ntbt", source="Orphanet:1465"} +xref: icd11.foundation:734451870 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536436 {source="Orphanet:1465", source="MONDO:equivalentTo", source="Orphanet:1465/e", source="DOID:1925"} xref: NCIT:C35321 {source="MONDO:equivalentTo", source="DOID:1925"} @@ -335109,6 +337254,7 @@ xref: DOID:0060216 {source="MONDO:equivalentTo"} xref: GARD:1421 {source="Orphanet:1467"} xref: ICD10CM:H16.3 {source="Orphanet:1467", source="Orphanet:1467/ntbt"} xref: ICD10CM:H16.32 {source="DOID:0060216"} +xref: icd11.foundation:2098089327 {source="MONDO:equivalentTo"} xref: MedDRA:10056667 {source="Orphanet:1467", source="Orphanet:1467/e"} xref: MESH:D055952 {source="MONDO:equivalentTo", source="Orphanet:1467", source="DOID:0060216", source="Orphanet:1467/e"} xref: Orphanet:1467 {source="MONDO:equivalentTo", source="DOID:0060216"} @@ -335139,6 +337285,7 @@ xref: GARD:3824 {source="Orphanet:148"} xref: ICD10CM:D81.81 {source="DOID:857"} xref: ICD10CM:D81.819 {source="DOID:857", source="MONDO:equivalentTo"} xref: ICD10CM:E53.8 {source="Orphanet:148", source="Orphanet:148/attributed", source="Orphanet:148/ntbt"} +xref: icd11.foundation:1133091451 {source="MONDO:equivalentTo"} xref: MedDRA:10028176 {source="Orphanet:148", source="Orphanet:148/e"} xref: MESH:D009100 {source="Orphanet:148", source="DOID:857", source="MONDO:equivalentTo", source="Orphanet:148/e"} xref: Orphanet:148 {source="MONDO:equivalentTo"} @@ -335168,6 +337315,7 @@ xref: GARD:2546 {source="Orphanet:1482"} xref: ICD10CM:A54.31 {source="MONDO:equivalentTo"} xref: ICD10EXP:A54.3+ {source="Orphanet:1482/e", source="Orphanet:1482"} xref: ICD10EXP:H13.1* {source="Orphanet:1482/e", source="Orphanet:1482"} +xref: icd11.foundation:884042621 {source="MONDO:equivalentTo"} xref: NCIT:C116816 {source="MONDO:equivalentTo"} xref: Orphanet:1482 {source="MONDO:equivalentTo"} xref: SCTID:231858009 {source="MONDO:equivalentTo"} @@ -335341,6 +337489,7 @@ subset: orphanet_rare {source="Orphanet:1505"} subset: rare xref: GARD:18726 {source="Orphanet:1505"} xref: ICD10CM:Q77.2 {source="Orphanet:1505", source="Orphanet:1505/attributed", source="Orphanet:1505/ntbt"} +xref: icd11.foundation:960900212 {source="MONDO:equivalentTo"} xref: icd11.foundation:960900212 {source="MONDO:equivalentTo", source="Orphanet:1505"} xref: ICD9:756.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D012779 {source="Orphanet:1505/e", source="MONDO:equivalentTo", source="Orphanet:1505"} @@ -335431,6 +337580,7 @@ subset: rare xref: DOID:0080033 {source="MONDO:equivalentTo"} xref: GARD:15013 {source="Orphanet:1522"} xref: ICD10CM:Q78.8 {source="Orphanet:1522", source="Orphanet:1522/attributed", source="Orphanet:1522/ntbt"} +xref: icd11.foundation:305860050 {source="MONDO:equivalentTo"} xref: ICD9:756.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NORD:1013 {source="MONDO:NORD"} xref: OMIMPS:123000 {source="MONDO:equivalentTo"} @@ -335458,6 +337608,7 @@ synonym: "Currarino idiopathic osteoarthropathy" EXACT [Orphanet:1525] synonym: "Reginato-Schiapachasse syndrome" EXACT [Orphanet:1525] xref: GARD:1564 {source="Orphanet:1525"} xref: ICD10CM:M89.4 {source="Orphanet:1525", source="Orphanet:1525/attributed", source="Orphanet:1525/ntbt"} +xref: icd11.foundation:225223076 {source="MONDO:equivalentTo"} xref: Orphanet:1525 {source="MONDO:equivalentTo"} xref: SCTID:720753002 {source="MONDO:equivalentTo"} xref: UMLS:C1531773 {source="Orphanet:1525"} @@ -335477,6 +337628,7 @@ subset: orphanet_rare {source="Orphanet:1527"} subset: rare xref: GARD:1601 {source="Orphanet:1527"} xref: ICD10CM:Q87.0 {source="Orphanet:1527", source="Orphanet:1527/attributed", source="Orphanet:1527/ntbt"} +xref: icd11.foundation:234032200 {source="MONDO:equivalentTo"} xref: MESH:C563368 {source="MONDO:equivalentTo"} xref: Orphanet:1527 {source="MONDO:equivalentTo"} xref: SCTID:720818003 {source="MONDO:equivalentTo"} @@ -335514,6 +337666,7 @@ xref: DOID:2340 {source="MONDO:equivalentTo"} xref: GARD:6209 {source="Orphanet:1531"} xref: ICD10CM:Q75.0 {source="DOID:2340", source="Orphanet:1531", source="MONDO:equivalentTo", source="Orphanet:1531/specific", source="Orphanet:1531/e"} xref: icd11.foundation:458033798 {source="Orphanet:1531", source="MONDO:equivalentTo"} +xref: icd11.foundation:458033798 {source="MONDO:equivalentTo"} xref: MedDRA:10048907 {source="Orphanet:1531", source="Orphanet:1531/e"} xref: MedDRA:10049889 {source="Orphanet:1531", source="Orphanet:1531/e"} xref: MESH:D003398 {source="DOID:2340", source="Orphanet:1531", source="MONDO:equivalentTo", source="Orphanet:1531/e"} @@ -335560,6 +337713,7 @@ subset: rare synonym: "adolescent benign focal crisis" EXACT [Orphanet:1544] xref: GARD:18728 {source="Orphanet:1544"} xref: ICD10CM:G40.8 {source="Orphanet:1544", source="Orphanet:1544/ntbt"} +xref: icd11.foundation:1800285392 {source="MONDO:equivalentTo"} xref: Orphanet:1544 {source="MONDO:equivalentTo"} xref: SCTID:715425000 {source="MONDO:equivalentTo"} xref: UMLS:C4275141 {source="MONDO:equivalentTo"} @@ -335608,6 +337762,7 @@ synonym: "infection by Cryptosporidium" EXACT [DOID:1733] synonym: "intestinal cryptosporidiosis" EXACT [DOID:1733, ICD9CM:007.4] xref: DOID:1733 {source="MONDO:equivalentTo"} xref: ICD10CM:A07.2 {source="Orphanet:1549/e", source="MONDO:equivalentTo", source="DOID:1733", source="Orphanet:1549"} +xref: icd11.foundation:1837013982 {source="MONDO:equivalentTo"} xref: ICD9:007.4 {source="DOID:1733"} xref: MedDRA:10011502 {source="Orphanet:1549/e", source="Orphanet:1549"} xref: MESH:D003457 {source="Orphanet:1549/e", source="MONDO:equivalentTo", source="DOID:1733", source="Orphanet:1549"} @@ -335695,6 +337850,7 @@ subset: orphanet_rare {source="Orphanet:155878"} subset: rare xref: GARD:19976 {source="Orphanet:155878"} xref: ICD10CM:Q35.9 {source="Orphanet:155878/ntbt", source="Orphanet:155878"} +xref: icd11.foundation:1848627578 {source="MONDO:equivalentTo"} xref: Orphanet:155878 {source="MONDO:equivalentTo"} is_a: MONDO:0016064 {source="Orphanet:155878"} ! cleft palate @@ -335767,6 +337923,7 @@ subset: rare synonym: "bilateral and symmetric oto-mandibular dysplasia" EXACT [Orphanet:155899] xref: GARD:19980 {source="Orphanet:155899"} xref: ICD10CM:Q75.4 {source="Orphanet:155899/specific", source="Orphanet:155899", source="Orphanet:155899/e"} +xref: icd11.foundation:470731247 {source="MONDO:equivalentTo"} xref: MedDRA:10051456 {source="Orphanet:155899", source="Orphanet:155899/e"} xref: MESH:D008342 {source="MONDO:equivalentTo", source="Orphanet:155899", source="Orphanet:155899/e"} xref: Orphanet:155899 {source="MONDO:equivalentTo"} @@ -335797,6 +337954,7 @@ xref: ICD10CM:B69.0 {source="Orphanet:1560", source="Orphanet:1560/btnt"} xref: ICD10CM:B69.1 {source="Orphanet:1560", source="Orphanet:1560/btnt"} xref: ICD10CM:B69.8 {source="Orphanet:1560", source="Orphanet:1560/btnt"} xref: ICD10CM:B69.9 {source="Orphanet:1560", source="Orphanet:1560/btnt", source="DOID:10079"} +xref: icd11.foundation:1324863907 {source="MONDO:equivalentTo"} xref: ICD9:123.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10079"} xref: MedDRA:10011775 {source="Orphanet:1560", source="Orphanet:1560/e"} xref: MESH:D003551 {source="Orphanet:1560", source="MONDO:equivalentTo", source="Orphanet:1560/e", source="EFO:0007231", source="DOID:10079"} @@ -335844,6 +338002,7 @@ xref: DOID:10126 {source="MONDO:equivalentTo"} xref: HP:0000563 {source="MONDO:otherHierarchy"} xref: ICD10CM:H18.6 {source="DOID:10126", source="Orphanet:156071/e", source="Orphanet:156071/specific", source="Orphanet:156071"} xref: ICD10CM:H18.60 {source="DOID:10126"} +xref: icd11.foundation:945228622 {source="MONDO:equivalentTo"} xref: ICD9:371.6 {source="DOID:10126"} xref: ICD9:371.60 {source="DOID:10126", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10023353 {source="Orphanet:156071/e", source="Orphanet:156071"} @@ -336020,6 +338179,7 @@ synonym: "enlarged tongue" RELATED [GARD:0003342] synonym: "giant tongue" RELATED [GARD:0003342] xref: GARD:3342 {source="Orphanet:156207"} xref: ICD10CM:Q38.2 {source="Orphanet:156207/specific", source="Orphanet:156207", source="Orphanet:156207/e"} +xref: icd11.foundation:670519908 {source="MONDO:equivalentTo"} xref: MedDRA:10025391 {source="Orphanet:156207", source="Orphanet:156207/e"} xref: MESH:C531735 {source="Orphanet:156207", source="Orphanet:156207/e"} xref: MESH:D008260 {source="MONDO:equivalentTo", source="Orphanet:156207", source="Orphanet:156207/e"} @@ -336084,6 +338244,7 @@ subset: orphanet_rare {source="Orphanet:156230"} subset: rare xref: GARD:12663 {source="Orphanet:156230"} xref: ICD10CM:Q27.3 {source="Orphanet:156230/ntbt", source="Orphanet:156230"} +xref: icd11.foundation:926860967 {source="MONDO:equivalentTo"} xref: Orphanet:156230 {source="MONDO:equivalentTo"} is_a: MONDO:0001256 {source="Orphanet:156230"} ! arteriovenous hemangioma/malformation relationship: has_characteristic MONDO:0021136 {source="MONDO:0016234"} ! rare @@ -336324,6 +338485,7 @@ xref: DOID:0060235 {source="MONDO:equivalentTo"} xref: GARD:1121 {source="Orphanet:157"} xref: HGNC:2330 {source="GARD:0001121"} xref: ICD10CM:E71.3 {source="Orphanet:157/attributed", source="Orphanet:157/ntbt", source="Orphanet:157"} +xref: icd11.foundation:204058632 {source="MONDO:equivalentTo"} xref: ICD9:277.85 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535589 {source="DOID:0060235", source="Orphanet:157/e", source="MONDO:equivalentTo", source="Orphanet:157"} xref: NCIT:C114766 {source="DOID:0060235", source="MONDO:equivalentTo"} @@ -336387,6 +338549,7 @@ xref: ICD10CM:D83.1 {source="Orphanet:1572", source="Orphanet:1572/btnt", source xref: ICD10CM:D83.2 {source="Orphanet:1572", source="Orphanet:1572/btnt", source="Orphanet:1572/specific"} xref: ICD10CM:D83.8 {source="Orphanet:1572", source="Orphanet:1572/btnt", source="Orphanet:1572/specific"} xref: ICD10CM:D83.9 {source="Orphanet:1572", source="Orphanet:1572/btnt", source="DOID:12177", source="Orphanet:1572/specific"} +xref: icd11.foundation:1908371517 {source="MONDO:equivalentTo"} xref: ICD9:279.06 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12177"} xref: MedDRA:10021449 {source="Orphanet:1572", source="Orphanet:1572/e"} xref: MESH:D017074 {source="Orphanet:1572", source="MONDO:equivalentTo", source="Orphanet:1572/e", source="DOID:12177"} @@ -336422,6 +338585,7 @@ synonym: "striatal degeneration familial" RELATED [GARD:0005040] synonym: "striatonigral degeneration infantile" RELATED [GARD:0005040] xref: GARD:5040 {source="Orphanet:1576"} xref: ICD10CM:G23.2 {source="Orphanet:1576/attributed", source="Orphanet:1576/ntbt", source="MONDO:relatedTo", source="Orphanet:1576"} +xref: icd11.foundation:1947032348 {source="MONDO:equivalentTo"} xref: Orphanet:1576 {source="MONDO:equivalentTo", source="GARD:0005040"} xref: SCTID:718174008 {source="MONDO:equivalentTo"} xref: UMLS:C0795996 {source="Orphanet:1576", source="MONDO:equivalentTo", source="GARD:0005040"} @@ -336440,6 +338604,7 @@ subset: orphanet_rare {source="Orphanet:157713"} subset: rare xref: GARD:16978 {source="Orphanet:157713"} xref: ICD10CM:E75.2 {source="Orphanet:157713", source="Orphanet:157713/attributed", source="Orphanet:157713/ntbt"} +xref: icd11.foundation:2136523495 {source="MONDO:equivalentTo"} xref: Orphanet:157713 {source="MONDO:equivalentTo"} is_a: MONDO:0800448 {source="Orphanet:157713"} ! leukoencephalopathy with vanishing white matter relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -336455,6 +338620,7 @@ subset: orphanet_rare {source="Orphanet:157716"} subset: rare xref: GARD:16979 {source="Orphanet:157716"} xref: ICD10CM:E75.2 {source="Orphanet:157716", source="Orphanet:157716/attributed", source="Orphanet:157716/ntbt"} +xref: icd11.foundation:1635638032 {source="MONDO:equivalentTo"} xref: Orphanet:157716 {source="MONDO:equivalentTo"} is_a: MONDO:0800448 {source="Orphanet:157716"} ! leukoencephalopathy with vanishing white matter @@ -336468,6 +338634,7 @@ subset: orphanet_rare {source="Orphanet:157719"} subset: rare xref: GARD:16980 {source="Orphanet:157719"} xref: ICD10CM:E75.2 {source="Orphanet:157719/attributed", source="Orphanet:157719/ntbt", source="Orphanet:157719"} +xref: icd11.foundation:1400114953 {source="MONDO:equivalentTo"} xref: Orphanet:157719 {source="MONDO:equivalentTo"} is_a: MONDO:0800448 {source="Orphanet:157719"} ! leukoencephalopathy with vanishing white matter @@ -336523,6 +338690,7 @@ subset: rare synonym: "serrated polyposis" EXACT [Orphanet:157798] xref: GARD:16982 {source="Orphanet:157798"} xref: ICD10CM:D12.6 {source="Orphanet:157798/attributed", source="Orphanet:157798/ntbt", source="Orphanet:157798"} +xref: icd11.foundation:1344352020 {source="MONDO:equivalentTo"} xref: NCIT:C165469 {source="MONDO:equivalentTo"} xref: OMIM:175020 {source="Orphanet:157798/btnt", source="MONDO:relatedTo", source="Orphanet:157798"} xref: Orphanet:157798 {source="MONDO:equivalentTo"} @@ -336569,6 +338737,7 @@ synonym: "Sohar-Crisponi syndrome" EXACT [DOID:0060294] xref: DOID:0060294 {source="MONDO:equivalentTo"} xref: GARD:16983 {source="Orphanet:157820"} xref: ICD10CM:G90.8 {source="Orphanet:157820/attributed", source="Orphanet:157820/ntbt", source="Orphanet:157820"} +xref: icd11.foundation:1884908195 {source="MONDO:equivalentTo"} xref: MESH:C536214 {source="DOID:0060294"} xref: OMIMPS:272430 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:157820 {source="MONDO:equivalentTo", source="DOID:0060294"} @@ -336600,6 +338769,7 @@ synonym: "Neumann tumor" EXACT [Orphanet:157826] synonym: "Neumann tumour" EXACT OMO:0003005 [] xref: DOID:7280 {source="MONDO:equivalentTo"} xref: GARD:20016 {source="Orphanet:157826"} +xref: icd11.foundation:1616915738 {source="MONDO:equivalentTo"} xref: MESH:D005887 {source="MONDO:equivalentTo", source="DOID:7280"} xref: NCIT:C4675 {source="MONDO:equivalentTo", source="DOID:7280"} xref: Orphanet:157826 {source="MONDO:equivalentTo"} @@ -336627,6 +338797,7 @@ subset: rare xref: EFO:1001822 {source="MONDO:equivalentTo"} xref: GARD:10794 {source="Orphanet:157835"} xref: ICD10CM:G44.0 {source="Orphanet:157835", source="Orphanet:157835/ntbt"} +xref: icd11.foundation:959737563 {source="MONDO:equivalentTo"} xref: ICD9:339.03 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10019461 {source="Orphanet:157835", source="Orphanet:157835/e"} xref: MESH:D051302 {source="MONDO:equivalentTo", source="Orphanet:157835", source="Orphanet:157835/e"} @@ -336708,6 +338879,7 @@ subset: orphanet_rare {source="Orphanet:157997"} subset: rare xref: GARD:20019 {source="Orphanet:157997"} xref: ICD10CM:D76.3 {source="Orphanet:157997", source="Orphanet:157997/ntbt"} +xref: icd11.foundation:339468256 {source="MONDO:equivalentTo"} xref: ICD9:216.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:157997 {source="MONDO:equivalentTo"} xref: SCTID:255192005 {source="MONDO:equivalentTo"} @@ -336732,6 +338904,7 @@ xref: DOID:4424 {source="MONDO:equivalentTo"} xref: EFO:1000311 {source="MONDO:equivalentTo"} xref: GARD:20020 {source="Orphanet:158000"} xref: ICD10CM:D76.3 {source="Orphanet:158000/ntbt", source="Orphanet:158000"} +xref: icd11.foundation:98595592 {source="MONDO:equivalentTo"} xref: icd11.foundation:98595592 {source="MONDO:equivalentTo", source="Orphanet:158000"} xref: MESH:D014972 {source="DOID:4424", source="Orphanet:158000/e", source="MONDO:equivalentTo", source="Orphanet:158000"} xref: NCIT:C3451 {source="DOID:4424", source="EFO:1000311", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -336754,6 +338927,7 @@ subset: rare synonym: "Montgomery syndrome" EXACT [Orphanet:158003] xref: GARD:13186 {source="Orphanet:158003"} xref: ICD10CM:D76.3 {source="Orphanet:158003", source="Orphanet:158003/ntbt"} +xref: icd11.foundation:1785140754 {source="MONDO:equivalentTo"} xref: MedDRA:10052575 {source="Orphanet:158003", source="Orphanet:158003/e"} xref: Orphanet:158003 {source="MONDO:equivalentTo"} xref: SCTID:399970005 {source="MONDO:equivalentTo"} @@ -336772,6 +338946,7 @@ subset: orphanet_rare {source="Orphanet:158008"} subset: rare xref: GARD:20021 {source="Orphanet:158008"} xref: ICD10CM:D76.3 {source="Orphanet:158008", source="Orphanet:158008/ntbt"} +xref: icd11.foundation:1137782407 {source="MONDO:equivalentTo"} xref: Orphanet:158008 {source="MONDO:equivalentTo"} xref: SCTID:765221009 {source="MONDO:equivalentTo"} xref: UMLS:C4707373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -336790,6 +338965,7 @@ synonym: "NXG" RELATED ABBREVIATION [GARD:0010951] xref: EFO:1001376 {source="MONDO:equivalentTo"} xref: GARD:10951 {source="Orphanet:158011"} xref: ICD10CM:D76.3 {source="Orphanet:158011/ntbt", source="Orphanet:158011"} +xref: icd11.foundation:2138563851 {source="MONDO:equivalentTo"} xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D058252 {source="Orphanet:158011/e", source="MONDO:equivalentTo", source="Orphanet:158011"} xref: Orphanet:158011 {source="MONDO:equivalentTo"} @@ -336833,6 +339009,7 @@ subset: orphanet_rare {source="Orphanet:158022"} subset: rare xref: GARD:20023 {source="Orphanet:158022"} xref: ICD10CM:D76.3 {source="Orphanet:158022/ntbt", source="Orphanet:158022"} +xref: icd11.foundation:1576286064 {source="MONDO:equivalentTo"} xref: Orphanet:158022 {source="MONDO:equivalentTo"} xref: SCTID:765141005 {source="MONDO:equivalentTo"} is_a: MONDO:0015531 {source="Orphanet:158022"} ! non-Langerhans cell histiocytosis @@ -337057,6 +339234,7 @@ subset: rare synonym: "epidermis suprabasal layer epidermolysis bullosa simplex" EXACT [MONDO:patterns/location] synonym: "epidermolysis bullosa simplex of epidermis suprabasal layer" EXACT [MONDO:design_pattern] xref: ICD10CM:Q81.0 {source="Orphanet:158661/attributed", source="Orphanet:158661/ntbt", source="Orphanet:158661"} +xref: icd11.foundation:1980336421 {source="MONDO:equivalentTo"} xref: Orphanet:158661 {source="MONDO:equivalentObsolete"} xref: SCTID:724840004 {source="MONDO:equivalentTo"} xref: UMLS:C4511300 {source="MONDO:equivalentTo"} @@ -337169,6 +339347,7 @@ subset: orphanet_rare {source="Orphanet:158775"} subset: rare xref: GARD:20036 {source="Orphanet:158775"} xref: ICD10CM:C96.2 {source="Orphanet:158775", source="Orphanet:158775/ntbt"} +xref: icd11.foundation:481663898 {source="MONDO:equivalentTo"} xref: Orphanet:158775 {source="MONDO:equivalentTo"} is_a: MONDO:0020331 {source="Orphanet:158775"} ! indolent systemic mastocytosis @@ -337182,6 +339361,7 @@ subset: orphanet_rare {source="Orphanet:158778"} subset: rare xref: GARD:20037 {source="Orphanet:158778"} xref: ICD10CM:C96.2 {source="Orphanet:158778", source="Orphanet:158778/ntbt"} +xref: icd11.foundation:922733413 {source="MONDO:equivalentTo"} xref: Orphanet:158778 {source="MONDO:equivalentTo"} is_a: MONDO:0020331 {source="Orphanet:158778"} ! indolent systemic mastocytosis @@ -337192,6 +339372,7 @@ subset: ordo_clinical_subtype {source="Orphanet:158793"} subset: orphanet_rare {source="Orphanet:158793"} subset: rare xref: ICD10CM:C96.2 {source="Orphanet:158793/ntbt", source="Orphanet:158793"} +xref: icd11.foundation:809306056 {source="MONDO:equivalentTo"} xref: Orphanet:158793 {source="MONDO:equivalentObsolete"} is_a: MONDO:0020333 {source="Orphanet:158793"} ! aggressive systemic mastocytosis @@ -337275,6 +339456,7 @@ xref: EFO:1001332 {source="MONDO:equivalentTo"} xref: GARD:12656 {source="Orphanet:160"} xref: ICD10CM:D47.4 {source="Orphanet:160", source="Orphanet:160/ntbt"} xref: ICD10CM:D47.Z2 {source="MONDO:equivalentTo", source="DOID:0111157"} +xref: icd11.foundation:1940989685 {source="MONDO:equivalentTo"} xref: MedDRA:10050251 {source="Orphanet:160", source="Orphanet:160/e"} xref: MESH:D005871 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="Orphanet:160", source="Orphanet:160/e"} xref: NCIT:C3056 {source="MONDO:equivalentTo", source="DOID:0111157"} @@ -337304,6 +339486,7 @@ synonym: "inflammatory myoglandular polyps" EXACT [Orphanet:160148] synonym: "polypoid prolapsing folds" EXACT [Orphanet:160148] xref: GARD:20038 {source="Orphanet:160148"} xref: ICD10CM:D12.6 {source="Orphanet:160148/ntbt", source="Orphanet:160148"} +xref: icd11.foundation:1387262691 {source="MONDO:equivalentTo"} xref: Orphanet:160148 {source="MONDO:equivalentTo"} xref: SCTID:720604008 {source="MONDO:equivalentTo"} xref: UMLS:C4303971 {source="MONDO:equivalentTo"} @@ -337459,6 +339642,7 @@ subset: rare xref: GARD:20042 {source="Orphanet:163525"} xref: ICD10CM:L93.1 {source="Orphanet:163525/e", source="MONDO:equivalentTo", source="Orphanet:163525"} xref: icd11.foundation:192274757 {source="MONDO:equivalentTo", source="Orphanet:163525"} +xref: icd11.foundation:192274757 {source="MONDO:equivalentTo"} xref: MedDRA:10057903 {source="Orphanet:163525/e", source="Orphanet:163525"} xref: NCIT:C117111 {source="MONDO:equivalentTo"} xref: Orphanet:163525 {source="MONDO:equivalentTo"} @@ -337482,6 +339666,7 @@ synonym: "cutaneous lupus erythematosus, chronic" EXACT [MONDO:patterns/chronic] xref: GARD:20043 {source="Orphanet:163531"} xref: ICD10CM:L93.0 {source="Orphanet:163531", source="Orphanet:163531/ntbt"} xref: ICD10CM:L93.2 {source="Orphanet:163531", source="Orphanet:163531/ntbt"} +xref: icd11.foundation:1849568465 {source="MONDO:equivalentTo"} xref: icd11.foundation:1849568465 {source="MONDO:equivalentTo", source="Orphanet:163531"} xref: MedDRA:10057929 {source="Orphanet:163531", source="Orphanet:163531/e"} xref: Orphanet:163531 {source="MONDO:equivalentTo"} @@ -337686,6 +339871,7 @@ synonym: "severe refractory status epilepticus owing to presumed encephalitis" E synonym: "status epilepticus owing to presumed encephalitis" RELATED [GARD:0011005] xref: GARD:11005 {source="Orphanet:163703"} xref: ICD10CM:G40.5 {source="Orphanet:163703/ntbt", source="Orphanet:163703"} +xref: icd11.foundation:1316435973 {source="MONDO:equivalentTo"} xref: NORD:1889 {source="MONDO:NORD"} xref: Orphanet:163703 {source="MONDO:equivalentTo"} xref: SCTID:725413002 {source="MONDO:equivalentTo"} @@ -337706,6 +339892,7 @@ subset: orphanet_rare {source="Orphanet:163708"} subset: rare synonym: "late-onset infantile spasms" EXACT [Orphanet:163708] xref: GARD:20050 {source="Orphanet:163708"} +xref: icd11.foundation:457378168 {source="MONDO:equivalentTo"} xref: Orphanet:163708 {source="MONDO:equivalentTo"} is_a: MONDO:0020072 {source="Orphanet:163708"} ! childhood-onset epilepsy syndrome @@ -337735,6 +339922,7 @@ subset: ordo_disease {source="Orphanet:163721"} subset: orphanet_rare {source="Orphanet:163721"} subset: rare xref: GARD:17002 {source="Orphanet:163721"} +xref: icd11.foundation:288052868 {source="MONDO:equivalentTo"} xref: Orphanet:163721 {source="MONDO:equivalentTo"} xref: UMLS:C4707308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020072 {source="Orphanet:163721"} ! childhood-onset epilepsy syndrome @@ -337768,6 +339956,7 @@ subset: orphanet_rare {source="Orphanet:163895"} subset: rare synonym: "limbic encephalitis" BROAD [NCIT:C4350] xref: ICD10CM:G13.1 {source="Orphanet:163895", source="Orphanet:163895/ntbt"} +xref: icd11.foundation:1147819644 {source="MONDO:equivalentTo"} xref: ICD9:323.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4350 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165 note the NCIT class is implicitly paraneoplastic"} xref: Orphanet:163895 {source="MONDO:equivalentObsolete"} @@ -337927,6 +340116,7 @@ subset: orphanet_rare {source="Orphanet:163934"} subset: rare xref: GARD:20053 {source="Orphanet:163934"} xref: ICD10CM:H16.2 {source="MONDO:relatedTo", source="Orphanet:163934/ntbt", source="Orphanet:163934"} +xref: icd11.foundation:1941631830 {source="MONDO:equivalentTo"} xref: ICD9:370.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10069664 {source="Orphanet:163934/e", source="Orphanet:163934"} xref: Orphanet:163934 {source="MONDO:equivalentTo"} @@ -338178,6 +340368,7 @@ synonym: "lipidosis with triglyceride storage disease" EXACT [Orphanet:165] xref: DOID:0050729 {source="MONDO:equivalentTo"} xref: GARD:3262 {source="Orphanet:165"} xref: ICD10CM:E75.5 {source="Orphanet:165/attributed", source="Orphanet:165/ntbt", source="Orphanet:165"} +xref: icd11.foundation:621440298 {source="MONDO:equivalentTo"} xref: icd11.foundation:621440298 {source="MONDO:equivalentTo", source="Orphanet:165"} xref: MESH:C536560 {source="Orphanet:165/e", source="Orphanet:165"} xref: Orphanet:165 {source="MONDO:equivalentTo"} @@ -338207,6 +340398,7 @@ synonym: "X-linked recessive nephrolithiasis" EXACT [Orphanet:1652] xref: DOID:0050699 {source="MONDO:equivalentTo"} xref: GARD:13105 {source="Orphanet:1652"} xref: ICD10CM:N25.8 {source="Orphanet:1652/attributed", source="Orphanet:1652/ntbt", source="Orphanet:1652"} +xref: icd11.foundation:1762998355 {source="MONDO:equivalentTo"} xref: MedDRA:10069199 {source="Orphanet:1652", source="Orphanet:1652/e"} xref: MESH:C538212 {source="DOID:0050699"} xref: MESH:C545036 {source="Orphanet:1652", source="Orphanet:1652/e"} @@ -338269,6 +340461,7 @@ xref: EFO:1000684 {source="MONDO:equivalentTo"} xref: GARD:1917 {source="Orphanet:1656"} xref: ICD10CM:L13.0 {source="DOID:8505", source="MONDO:equivalentTo", source="Orphanet:1656", source="Orphanet:1656/e"} xref: icd11.foundation:286313127 {source="MONDO:equivalentTo", source="Orphanet:1656"} +xref: icd11.foundation:286313127 {source="MONDO:equivalentTo"} xref: ICD9:694.0 {source="DOID:8505", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10012468 {source="Orphanet:1656", source="Orphanet:1656/e"} xref: MESH:D003874 {source="DOID:8505", source="MONDO:equivalentTo", source="Orphanet:1656", source="Orphanet:1656/e"} @@ -338390,6 +340583,7 @@ subset: rare synonym: "traumatic myiasis" EXACT [Orphanet:165955] xref: GARD:20065 {source="Orphanet:165955"} xref: ICD10CM:B87.1 {source="MONDO:equivalentTo", source="Orphanet:165955", source="Orphanet:165955/ntbt"} +xref: icd11.foundation:894204357 {source="MONDO:equivalentTo"} xref: ICD9:998.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:165955 {source="MONDO:equivalentTo"} xref: SCTID:240880004 {source="MONDO:equivalentTo"} @@ -338495,6 +340689,7 @@ subset: rare xref: DOID:0070305 {source="MONDO:equivalentTo"} xref: GARD:15024 {source="Orphanet:166002"} xref: ICD10CM:Q77.3 {source="Orphanet:166002", source="MONDO:relatedTo", source="Orphanet:166002/attributed", source="Orphanet:166002/ntbt"} +xref: icd11.foundation:741183905 {source="MONDO:equivalentTo"} xref: Orphanet:166002 {source="MONDO:equivalentTo"} xref: SCTID:766717008 {source="MONDO:equivalentTo"} is_a: MONDO:0016648 {source="MONDO:Redundant", source="Orphanet:166002"} ! multiple epiphyseal dysplasia @@ -338513,6 +340708,7 @@ subset: rare synonym: "von Willebrand disease, type 2A" EXACT [NCIT:C131686] xref: GARD:17021 {source="Orphanet:166084"} xref: ICD10CM:D68.0 {source="Orphanet:166084/attributed", source="Orphanet:166084/ntbt", source="Orphanet:166084"} +xref: icd11.foundation:1009291548 {source="MONDO:equivalentTo"} xref: NCIT:C131686 {source="MONDO:equivalentTo"} xref: Orphanet:166084 {source="MONDO:equivalentTo"} xref: SCTID:359714009 {source="MONDO:equivalentTo"} @@ -338534,6 +340730,7 @@ synonym: "von Willebrand disease type 2B" EXACT CLINGEN_LABEL [] synonym: "von Willebrand disease, type 2B" EXACT [NCIT:C131687] xref: GARD:17022 {source="Orphanet:166087"} xref: ICD10CM:D68.0 {source="Orphanet:166087", source="Orphanet:166087/attributed", source="Orphanet:166087/ntbt"} +xref: icd11.foundation:1383884415 {source="MONDO:equivalentTo"} xref: NCIT:C131687 {source="MONDO:equivalentTo"} xref: Orphanet:166087 {source="MONDO:equivalentTo"} xref: SCTID:359717002 {source="MONDO:equivalentTo"} @@ -338556,6 +340753,7 @@ subset: rare synonym: "von Willebrand disease, type 2M" EXACT [NCIT:C131688] xref: GARD:17023 {source="Orphanet:166090"} xref: ICD10CM:D68.0 {source="Orphanet:166090", source="Orphanet:166090/attributed", source="Orphanet:166090/ntbt"} +xref: icd11.foundation:1358085002 {source="MONDO:equivalentTo"} xref: NCIT:C131688 {source="MONDO:equivalentTo"} xref: Orphanet:166090 {source="MONDO:equivalentTo"} xref: SCTID:359725000 {source="MONDO:equivalentTo"} @@ -338578,6 +340776,7 @@ synonym: "von Willebrand disease Normandy variant" EXACT [NCIT:C131689] synonym: "von Willebrand disease, type 2N" EXACT [NCIT:C131689] xref: GARD:17024 {source="Orphanet:166093"} xref: ICD10CM:D68.0 {source="Orphanet:166093", source="Orphanet:166093/attributed", source="Orphanet:166093/ntbt"} +xref: icd11.foundation:1091176565 {source="MONDO:equivalentTo"} xref: NCIT:C131689 {source="MONDO:equivalentTo"} xref: Orphanet:166093 {source="MONDO:equivalentTo"} xref: SCTID:359732009 {source="MONDO:equivalentTo"} @@ -338596,6 +340795,7 @@ subset: orphanet_rare {source="Orphanet:166105"} subset: rare xref: GARD:17026 {source="Orphanet:166105"} xref: ICD10CM:G71.3 {source="Orphanet:166105", source="Orphanet:166105/attributed", source="Orphanet:166105/ntbt"} +xref: icd11.foundation:356231901 {source="MONDO:equivalentTo"} xref: Orphanet:166105 {source="MONDO:equivalentTo"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder @@ -338668,6 +340868,7 @@ xref: DOID:1082 {source="EFO:0007239", source="MONDO:equivalentTo"} xref: EFO:0007239 {source="MONDO:equivalentTo"} xref: GARD:11908 {source="Orphanet:166291"} xref: ICD10CM:B74.8 {source="Orphanet:166291", source="Orphanet:166291/ntbt", source="DOID:1082"} +xref: icd11.foundation:1349492056 {source="MONDO:equivalentTo"} xref: ICD9:125.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D004184 {source="Orphanet:166291/e", source="EFO:0007239", source="MONDO:equivalentTo", source="Orphanet:166291", source="DOID:1082"} xref: Orphanet:166291 {source="MONDO:equivalentTo"} @@ -338705,6 +340906,7 @@ subset: orphanet_rare {source="Orphanet:166299"} subset: rare xref: GARD:20072 {source="Orphanet:166299"} xref: ICD10CM:G40.2 {source="Orphanet:166299", source="Orphanet:166299/attributed", source="Orphanet:166299/ntbt"} +xref: icd11.foundation:147618459 {source="MONDO:equivalentTo"} xref: Orphanet:166299 {source="MONDO:equivalentTo"} xref: UMLS:C4749347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015637 {source="Orphanet:166299"} ! benign non-familial infantile seizures @@ -338720,6 +340922,7 @@ subset: orphanet_rare {source="Orphanet:166302"} subset: rare xref: GARD:20073 {source="Orphanet:166302"} xref: ICD10CM:G40.1 {source="Orphanet:166302", source="Orphanet:166302/attributed", source="Orphanet:166302/ntbt"} +xref: icd11.foundation:413225821 {source="MONDO:equivalentTo"} xref: Orphanet:166302 {source="MONDO:equivalentTo"} xref: UMLS:C4749728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015637 {source="Orphanet:166302"} ! benign non-familial infantile seizures @@ -338734,6 +340937,7 @@ subset: ordo_disease {source="Orphanet:166305"} subset: orphanet_rare {source="Orphanet:166305"} subset: rare xref: GARD:20074 {source="Orphanet:166305"} +xref: icd11.foundation:839512399 {source="MONDO:equivalentTo"} xref: Orphanet:166305 {source="MONDO:equivalentTo"} xref: SCTID:765756007 {source="MONDO:equivalentTo"} is_a: MONDO:0015642 {source="Orphanet:166305"} ! benign partial infantile seizures @@ -338781,6 +340985,7 @@ synonym: "PSE" RELATED ABBREVIATION [GARD:0005648] xref: DOID:0060281 {source="MONDO:equivalentTo"} xref: GARD:5648 {source="Orphanet:166409"} xref: ICD10CM:G40.8 {source="Orphanet:166409/ntbt", source="DOID:0060281", source="Orphanet:166409"} +xref: icd11.foundation:946957931 {source="MONDO:equivalentTo"} xref: ICD9:345.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIMPS:132100 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:166409 {source="MONDO:equivalentTo", source="DOID:0060281"} @@ -338873,6 +341078,7 @@ subset: orphanet_rare {source="Orphanet:166427"} subset: rare xref: GARD:20081 {source="Orphanet:166427"} xref: ICD10CM:G40.8 {source="Orphanet:166427/ntbt", source="Orphanet:166427"} +xref: icd11.foundation:1012101161 {source="MONDO:equivalentTo"} xref: Orphanet:166427 {source="MONDO:equivalentTo"} xref: SCTID:763632004 {source="MONDO:equivalentTo"} xref: UMLS:C4706527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -339073,6 +341279,7 @@ xref: GARD:1827 {source="Orphanet:1666"} xref: HP:0001651 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q24.0 {source="Orphanet:1666", source="Orphanet:1666/e", source="DOID:9565"} xref: icd11.foundation:1472687600 {source="MONDO:equivalentTo", source="Orphanet:1666"} +xref: icd11.foundation:1472687600 {source="MONDO:equivalentTo"} xref: ICD9:746.87 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10012592 {source="Orphanet:1666", source="Orphanet:1666/e"} xref: MESH:D003914 {source="MONDO:equivalentTo", source="Orphanet:1666", source="Orphanet:1666/e", source="DOID:9565"} @@ -339119,6 +341326,7 @@ synonym: "diencephalic syndrome of infancy" EXACT [NCIT:C116955] synonym: "Russell diencephalic cachexia" EXACT [Orphanet:1672] synonym: "Russell syndrome" EXACT [Orphanet:1672] xref: GARD:6276 {source="Orphanet:1672"} +xref: icd11.foundation:879659089 {source="MONDO:equivalentTo"} xref: ICD9:253.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C116955 {source="MONDO:equivalentTo"} xref: NORD:1052 {source="MONDO:NORD"} @@ -339333,6 +341541,7 @@ synonym: "late-infantile neuronal ceroid lipofuscinosis" EXACT [] synonym: "LINCL" EXACT ABBREVIATION [Orphanet:168491] xref: GARD:17032 {source="Orphanet:168491"} xref: ICD10CM:E75.4 {source="Orphanet:168491", source="Orphanet:168491/attributed", source="Orphanet:168491/ntbt"} +xref: icd11.foundation:1923920542 {source="MONDO:equivalentTo"} xref: Orphanet:168491 {source="MONDO:equivalentTo"} xref: SCTID:14637005 {source="MONDO:equivalentTo"} xref: UMLS:C0022340 {source="Orphanet:168491/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:168491"} @@ -339398,6 +341607,7 @@ subset: orphanet_rare {source="Orphanet:168621"} subset: rare xref: GARD:20098 {source="Orphanet:168621"} xref: ICD10CM:Q78.8 {source="Orphanet:168621/attributed", source="Orphanet:168621/ntbt", source="Orphanet:168621"} +xref: icd11.foundation:381445908 {source="MONDO:equivalentTo"} xref: Orphanet:168621 {source="MONDO:equivalentTo"} xref: SCTID:715861004 {source="MONDO:equivalentTo"} xref: UMLS:C4274970 {source="MONDO:equivalentTo"} @@ -339465,6 +341675,7 @@ synonym: "symbiotic psychosis" EXACT [DOID:13487] xref: DOID:13487 {source="MONDO:equivalentTo"} xref: GARD:6040 {source="Orphanet:168782"} xref: ICD10CM:F84.3 {source="Orphanet:168782", source="Orphanet:168782/e", source="DOID:13487", source="Orphanet:168782/specific"} +xref: icd11.foundation:1460615954 {source="MONDO:equivalentTo"} xref: ICD9:299.1 {source="DOID:13487"} xref: MedDRA:10008522 {source="Orphanet:168782", source="Orphanet:168782/e"} xref: NCIT:C97164 {source="MONDO:equivalentTo", source="DOID:13487", source="MONDO:directSiblingOf"} @@ -339647,6 +341858,7 @@ xref: DOID:0080166 {source="MONDO:equivalentTo"} xref: GARD:20107 {source="Orphanet:168950"} xref: ICD10CM:D47.1 {source="Orphanet:168950", source="Orphanet:168950/ntbt"} xref: icd11.foundation:625932159 {source="Orphanet:168950", source="MONDO:equivalentTo"} +xref: icd11.foundation:625932159 {source="MONDO:equivalentTo"} xref: ICDO:9966/3 {source="NCIT:C84276"} xref: NCIT:C84276 {source="DOID:0080166", source="MONDO:equivalentTo"} xref: ONCOTREE:MLNPDGFRB {source="MONDO:equivalentTo"} @@ -339676,6 +341888,7 @@ xref: DOID:999 {source="MONDO:equivalentTo"} xref: EFO:1001467 {source="MONDO:equivalentTo"} xref: GARD:2804 {source="Orphanet:168956"} xref: ICD10CM:D72.1 {source="DOID:999"} +xref: icd11.foundation:110429919 {source="MONDO:equivalentTo"} xref: ICD9:288.3 {source="DOID:999"} xref: ICDO:9964/3 {source="NCIT:C27038"} xref: MedDRA:10048643 {source="Orphanet:168956", source="Orphanet:168956/e"} @@ -339758,6 +341971,7 @@ subset: rare synonym: "immune dysfunction due to T-cell inactivation due to calcium entry defect" EXACT [Orphanet:169090] xref: GARD:17048 {source="Orphanet:169090"} xref: ICD10CM:D81.8 {source="Orphanet:169090/attributed", source="Orphanet:169090/ntbt", source="Orphanet:169090"} +xref: icd11.foundation:1641826886 {source="MONDO:equivalentTo"} xref: Orphanet:169090 {source="MONDO:equivalentTo"} xref: SCTID:717811007 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease @@ -339782,6 +341996,7 @@ synonym: "thymoma-immunodeficiency" EXACT [] synonym: "thymoma-immunodeficiency syndrome" EXACT [Orphanet:169105] xref: DOID:0060028 {source="MONDO:equivalentTo"} xref: GARD:8622 {source="Orphanet:169105"} +xref: icd11.foundation:812332735 {source="MONDO:equivalentTo"} xref: icd11.foundation:812332735 {source="Orphanet:169105", source="MONDO:equivalentTo"} xref: Orphanet:169105 {source="MONDO:equivalentTo"} xref: SCTID:9893005 {source="MONDO:equivalentTo"} @@ -339799,6 +342014,7 @@ subset: orphanet_rare {source="Orphanet:169110"} subset: rare xref: GARD:20111 {source="Orphanet:169110"} xref: ICD10CM:D80.8 {source="Orphanet:169110/attributed", source="Orphanet:169110/ntbt", source="Orphanet:169110"} +xref: icd11.foundation:960006636 {source="MONDO:equivalentTo"} xref: ICD9:279.03 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:169110 {source="MONDO:equivalentTo"} xref: SCTID:234539005 {source="MONDO:equivalentTo"} @@ -339955,6 +342171,7 @@ synonym: "centronuclear myopathy, autosomal recessive" EXACT [MONDO:patterns/aut xref: DOID:0111216 {source="MONDO:equivalentTo"} xref: GARD:12718 {source="Orphanet:169186"} xref: ICD10CM:G71.2 {source="Orphanet:169186/attributed", source="Orphanet:169186/ntbt", source="Orphanet:169186"} +xref: icd11.foundation:1844602815 {source="MONDO:equivalentTo"} xref: Orphanet:169186 {source="MONDO:equivalentTo"} xref: SCTID:240081004 {source="MONDO:equivalentTo"} xref: UMLS:C0410204 {source="Orphanet:169186/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:169186"} @@ -340005,6 +342222,7 @@ subset: orphanet_rare {source="Orphanet:169349"} subset: rare xref: GARD:20115 {source="Orphanet:169349"} xref: icd11.foundation:1948303413 {source="MONDO:equivalentTo", source="Orphanet:169349"} +xref: icd11.foundation:1948303413 {source="MONDO:equivalentTo"} xref: Orphanet:169349 {source="MONDO:equivalentTo"} xref: SCTID:254067002 {source="MONDO:equivalentTo"} xref: UMLS:C0432218 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:169349", source="Orphanet:169349/e"} @@ -340467,6 +342685,7 @@ subset: orphanet_rare {source="Orphanet:171201"} subset: rare xref: ICD10CM:Q42.0 {source="Orphanet:171201/attributed", source="Orphanet:171201/ntbt", source="Orphanet:171201"} xref: ICD10CM:Q42.1 {source="Orphanet:171201/attributed", source="Orphanet:171201/ntbt", source="Orphanet:171201"} +xref: icd11.foundation:1409973552 {source="MONDO:equivalentTo"} xref: ICD9:751.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:171201 {source="MONDO:equivalentObsolete"} xref: SCTID:253771003 {source="MONDO:equivalentTo"} @@ -340483,6 +342702,7 @@ subset: orphanet_rare {source="Orphanet:171208"} subset: rare xref: ICD10CM:Q42.0 {source="Orphanet:171208", source="Orphanet:171208/attributed", source="Orphanet:171208/ntbt"} xref: ICD10CM:Q42.1 {source="Orphanet:171208", source="Orphanet:171208/attributed", source="Orphanet:171208/ntbt"} +xref: icd11.foundation:1224425167 {source="MONDO:equivalentTo"} xref: Orphanet:171208 {source="MONDO:equivalentObsolete"} xref: SCTID:734024009 {source="MONDO:equivalentTo"} is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis @@ -340497,6 +342717,7 @@ subset: orphanet_rare {source="Orphanet:171215"} subset: rare xref: ICD10CM:Q42.2 {source="Orphanet:171215/specific", source="Orphanet:171215/btnt", source="Orphanet:171215"} xref: ICD10CM:Q42.3 {source="Orphanet:171215/specific", source="Orphanet:171215/btnt", source="Orphanet:171215"} +xref: icd11.foundation:1155202227 {source="MONDO:equivalentTo"} xref: ICD9:751.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C98975 {source="MONDO:equivalentTo"} xref: Orphanet:171215 {source="MONDO:equivalentObsolete"} @@ -340516,6 +342737,7 @@ subset: orphanet_rare {source="Orphanet:171220"} subset: rare xref: GARD:20122 {source="Orphanet:171220"} xref: ICD10CM:Q43.4 {source="Orphanet:171220", source="Orphanet:171220/attributed", source="Orphanet:171220/ntbt"} +xref: icd11.foundation:1354283575 {source="MONDO:equivalentTo"} xref: Orphanet:171220 {source="MONDO:equivalentTo"} xref: SCTID:725910009 {source="MONDO:equivalentTo"} is_a: MONDO:0019938 {source="Orphanet:171220"} ! anorectal malformation @@ -340533,6 +342755,7 @@ subset: rare synonym: "severe congenital (neonatal) NM" RELATED [GARD:0012821] xref: GARD:12821 {source="Orphanet:171430"} xref: ICD10CM:G71.2 {source="Orphanet:171430", source="Orphanet:171430/attributed", source="Orphanet:171430/ntbt"} +xref: icd11.foundation:1025202057 {source="MONDO:equivalentTo"} xref: Orphanet:171430 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0016193 {source="Orphanet:171430"} ! qualitative or quantitative defects of alpha-actin @@ -340555,6 +342778,7 @@ synonym: "Intermediate congenital nemaline myopathy" RELATED [GARD:0012823] synonym: "Intermediate congenital NM" RELATED [GARD:0012823] xref: GARD:12823 {source="Orphanet:171433"} xref: ICD10CM:G71.2 {source="Orphanet:171433", source="Orphanet:171433/attributed", source="Orphanet:171433/ntbt"} +xref: icd11.foundation:1667070006 {source="MONDO:equivalentTo"} xref: Orphanet:171433 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0005336 {source="https://orcid.org/0000-0002-4142-7153"} ! myopathy @@ -340575,6 +342799,7 @@ subset: rare synonym: "typical congenital nemaline myopathy" RELATED [GARD:0012822] xref: GARD:12822 {source="Orphanet:171436"} xref: ICD10CM:G71.2 {source="Orphanet:171436/attributed", source="Orphanet:171436/ntbt", source="Orphanet:171436"} +xref: icd11.foundation:1105111633 {source="MONDO:equivalentTo"} xref: Orphanet:171436 {source="MONDO:equivalentTo"} is_a: MONDO:0002320 ! congenital nervous system disorder is_a: MONDO:0016193 {source="Orphanet:171436"} ! qualitative or quantitative defects of alpha-actin @@ -340615,6 +342840,7 @@ subset: orphanet_rare {source="Orphanet:171442"} subset: rare xref: GARD:12824 {source="Orphanet:171442"} xref: ICD10CM:G71.2 {source="Orphanet:171442", source="Orphanet:171442/attributed", source="Orphanet:171442/ntbt"} +xref: icd11.foundation:1610331066 {source="MONDO:equivalentTo"} xref: Orphanet:171442 {source="MONDO:equivalentTo"} xref: UMLS:C0546123 {source="MONDO:equivalentTo", source="Orphanet:171442", source="Orphanet:171442/e"} is_a: MONDO:0016193 {source="Orphanet:171442"} ! qualitative or quantitative defects of alpha-actin @@ -340704,6 +342930,7 @@ subset: orphanet_rare {source="Orphanet:171684"} subset: rare xref: GARD:20124 {source="Orphanet:171684"} xref: ICD10CM:H81.8 {source="Orphanet:171684", source="Orphanet:171684/ntbt"} +xref: icd11.foundation:1394072237 {source="MONDO:equivalentTo"} xref: icd11.foundation:1394072237 {source="MONDO:equivalentTo", source="Orphanet:171684"} xref: Orphanet:171684 {source="MONDO:equivalentTo"} xref: SCTID:737580004 {source="MONDO:equivalentTo"} @@ -340916,6 +343143,7 @@ subset: orphanet_rare {source="Orphanet:171889"} subset: rare xref: GARD:20129 {source="Orphanet:171889"} xref: ICD10CM:G71.2 {source="Orphanet:171889", source="Orphanet:171889/attributed", source="Orphanet:171889/ntbt"} +xref: icd11.foundation:1953170361 {source="MONDO:equivalentTo"} xref: Orphanet:171889 {source="MONDO:equivalentTo"} xref: SCTID:764994007 {source="MONDO:equivalentTo"} is_a: MONDO:0019952 {source="Orphanet:171889"} ! congenital myopathy @@ -341065,6 +343293,7 @@ xref: DOID:0070221 {source="MONDO:equivalentTo"} xref: GARD:15255 {source="Orphanet:172"} xref: ICD10CM:K76.8 {source="Orphanet:172", source="Orphanet:172/attributed", source="Orphanet:172/ntbt"} xref: icd11.foundation:1457142642 {source="MONDO:equivalentTo", source="Orphanet:172"} +xref: icd11.foundation:1457142642 {source="MONDO:equivalentTo"} xref: NCIT:C84453 {source="MONDO:equivalentTo"} xref: OMIMPS:211600 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:172 {source="MONDO:equivalentTo"} @@ -341154,6 +343383,7 @@ xref: ICD10CM:A00.0 {source="DOID:1498", source="Orphanet:173", source="Orphanet xref: ICD10CM:A00.1 {source="Orphanet:173", source="Orphanet:173/btnt"} xref: ICD10CM:A00.9 {source="DOID:1498", source="Orphanet:173", source="Orphanet:173/btnt"} xref: icd11.foundation:257068234 {source="MONDO:equivalentTo", source="Orphanet:173"} +xref: icd11.foundation:257068234 {source="MONDO:equivalentTo"} xref: ICD9:001 {source="DOID:1498"} xref: ICD9:001.0 {source="DOID:1498", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:001.9 {source="DOID:1498", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -341266,6 +343496,7 @@ subset: orphanet_rare {source="Orphanet:174590"} subset: rare xref: GARD:20135 {source="Orphanet:174590"} xref: ICD10CM:E23.0 {source="Orphanet:174590", source="MONDO:relatedTo", source="Orphanet:174590/attributed", source="Orphanet:174590/ntbt"} +xref: icd11.foundation:1752075408 {source="MONDO:equivalentTo"} xref: NCIT:C120162 {source="MONDO:equivalentTo"} xref: Orphanet:174590 {source="MONDO:equivalentTo"} xref: SCTID:722944006 {source="MONDO:equivalentTo"} @@ -341350,6 +343581,7 @@ subset: rare synonym: "thoraco abdominal enteric duplication" RELATED [GARD:0005181] xref: GARD:5181 {source="Orphanet:1759"} xref: ICD10CM:Q43.4 {source="Orphanet:1759/attributed", source="Orphanet:1759/ntbt", source="Orphanet:1759"} +xref: icd11.foundation:1267632171 {source="MONDO:equivalentTo"} xref: Orphanet:1759 {source="MONDO:equivalentTo"} xref: SCTID:733628001 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease @@ -341390,6 +343622,7 @@ xref: DOID:2580 {source="MONDO:equivalentTo"} xref: GARD:13160 {source="Orphanet:177"} xref: ICD10CM:E71.540 {source="MONDO:equivalentTo", source="DOID:2580"} xref: ICD10CM:Q77.3 {source="Orphanet:177/attributed", source="Orphanet:177/ntbt", source="Orphanet:177"} +xref: icd11.foundation:260357080 {source="MONDO:equivalentTo"} xref: MESH:D018902 {source="Orphanet:177/e", source="MONDO:equivalentTo", source="Orphanet:177", source="DOID:2580"} xref: NCIT:C85047 {source="MONDO:equivalentTo", source="DOID:2580"} xref: OMIMPS:215100 {source="MONDO:equivalentTo", source="DOID:2580"} @@ -341487,6 +343720,7 @@ synonym: "Zinsser-Engman-Cole syndrome" EXACT [GARD:0010905, Orphanet:1775] xref: DOID:2729 {source="MONDO:equivalentTo"} xref: GARD:10905 {source="Orphanet:1775"} xref: ICD10CM:Q82.8 {source="Orphanet:1775", source="Orphanet:1775/index", source="Orphanet:1775/ntbt"} +xref: icd11.foundation:1531033936 {source="MONDO:equivalentTo"} xref: MedDRA:10062759 {source="Orphanet:1775", source="Orphanet:1775/e"} xref: MESH:D019871 {source="MONDO:equivalentTo", source="Orphanet:1775", source="Orphanet:1775/e", source="DOID:2729"} xref: NCIT:C111802 {source="MONDO:equivalentTo", source="DOID:2729"} @@ -341674,6 +343908,7 @@ xref: GARD:6015 {source="Orphanet:178029"} xref: HP:0000863 {source="MONDO:otherHierarchy"} xref: ICD10CM:E23.2 {source="MONDO:relatedTo", source="Orphanet:178029", source="Orphanet:178029/ntbt"} xref: icd11.foundation:1009553897 {source="MONDO:equivalentTo", source="Orphanet:178029"} +xref: icd11.foundation:1009553897 {source="MONDO:equivalentTo"} xref: MedDRA:10068587 {source="Orphanet:178029", source="Orphanet:178029/e"} xref: MESH:D020790 {source="Orphanet:178029", source="Orphanet:178029/e"} xref: Orphanet:178029 {source="MONDO:equivalentTo"} @@ -341696,6 +343931,7 @@ synonym: "gonadotropin-independent precocious puberty" EXACT [https://rarediseas synonym: "precocious pseudopuberty" EXACT [Wikipedia:Precocious_puberty#Peripheral] xref: GARD:20141 {source="Orphanet:178040"} xref: ICD10CM:E30.1 {source="Orphanet:178040/specific", source="Orphanet:178040/e", source="Orphanet:178040"} +xref: icd11.foundation:1495024153 {source="MONDO:equivalentTo"} xref: icd11.foundation:1495024153 {source="MONDO:equivalentTo", source="Orphanet:178040"} xref: Orphanet:178040 {source="MONDO:equivalentTo"} xref: SCTID:736606009 {source="MONDO:equivalentTo"} @@ -341718,6 +343954,7 @@ synonym: "THOP" EXACT ABBREVIATION [NCIT:C113171] synonym: "transient hypothyroxinemia of prematurity" EXACT [NCIT:C113171] xref: GARD:20142 {source="Orphanet:178045"} xref: icd11.foundation:592246939 {source="Orphanet:178045", source="MONDO:equivalentTo"} +xref: icd11.foundation:592246939 {source="MONDO:equivalentTo"} xref: NCIT:C113171 {source="MONDO:equivalentTo"} xref: Orphanet:178045 {source="MONDO:equivalentTo"} xref: SCTID:119181000119104 {source="MONDO:equivalentTo"} @@ -341864,6 +344101,7 @@ synonym: "Smith-McCort dwarfism" RELATED [GARD:0010620] xref: DOID:0060247 {source="MONDO:equivalentTo"} xref: GARD:10620 {source="Orphanet:178355"} xref: ICD10CM:Q77.7 {source="Orphanet:178355", source="Orphanet:178355/attributed", source="Orphanet:178355/ntbt"} +xref: icd11.foundation:1800275830 {source="MONDO:equivalentTo"} xref: MESH:C564589 {source="MONDO:equivalentTo", source="DOID:0060247"} xref: OMIMPS:607326 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:178355 {source="MONDO:equivalentTo", source="DOID:0060247"} @@ -341901,6 +344139,7 @@ subset: ordo_disease {source="Orphanet:178396"} subset: orphanet_rare {source="Orphanet:178396"} subset: rare xref: GARD:20148 {source="Orphanet:178396"} +xref: icd11.foundation:59972355 {source="MONDO:equivalentTo"} xref: Orphanet:178396 {source="MONDO:equivalentTo"} xref: UMLS:C5190706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002242 {source="MONDO:0019039-obsoleted"} ! coagulation protein disease @@ -341945,6 +344184,7 @@ xref: DOID:0050353 {source="MONDO:equivalentTo"} xref: GARD:20149 {source="Orphanet:178475"} xref: ICD10CM:A05.1 {source="Orphanet:178475/ntbt", source="Orphanet:178475"} xref: ICD10CM:A48.52 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1674998448 {source="MONDO:equivalentTo"} xref: ICD9:040.42 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C128342 {source="MONDO:equivalentTo"} xref: Orphanet:178475 {source="MONDO:equivalentTo"} @@ -342032,6 +344272,7 @@ synonym: "infant-like botulism" EXACT [Orphanet:178487] synonym: "intestinal botulism of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: GARD:20152 {source="Orphanet:178487"} xref: ICD10CM:A05.1 {source="Orphanet:178487", source="Orphanet:178487/ntbt"} +xref: icd11.foundation:1601222948 {source="MONDO:equivalentTo"} xref: NCIT:C128344 {source="MONDO:equivalentTo"} xref: Orphanet:178487 {source="MONDO:equivalentTo"} xref: UMLS:C4289991 {source="MONDO:equivalentTo"} @@ -342078,6 +344319,7 @@ synonym: "folliculotropic mycosis fungoides" EXACT [] synonym: "mycosis fungoides-associated follicular mucinosis" EXACT [Orphanet:178512] xref: GARD:20154 {source="Orphanet:178512"} xref: ICD10CM:C84.0 {source="Orphanet:178512", source="Orphanet:178512/ntbt"} +xref: icd11.foundation:1335995469 {source="MONDO:equivalentTo"} xref: ICD9:701.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C35685 {source="MONDO:equivalentTo"} xref: Orphanet:178512 {source="MONDO:equivalentTo"} @@ -342355,6 +344597,7 @@ synonym: "Richieri Costa Gorlin syndrome" RELATED [GARD:0004046] synonym: "Richieri-Costa-Gorlin syndrome" EXACT [Orphanet:1794] xref: GARD:4046 {source="Orphanet:1794"} xref: ICD10CM:Q75.1 {source="Orphanet:1794", source="Orphanet:1794/attributed", source="Orphanet:1794/ntbt"} +xref: icd11.foundation:921026296 {source="MONDO:equivalentTo"} xref: MESH:C537736 {source="Orphanet:1794", source="MONDO:equivalentTo", source="Orphanet:1794/e"} xref: Orphanet:1794 {source="MONDO:equivalentTo", source="GARD:0004046"} xref: SCTID:763830009 {source="MONDO:equivalentTo"} @@ -342506,6 +344749,7 @@ synonym: "complete unilateral Müllerian aplasia" EXACT [Orphanet:180074] synonym: "unicornuate uterus without rudimentary horn" EXACT [Orphanet:180074] xref: GARD:20174 {source="Orphanet:180074"} xref: ICD10CM:Q51.4 {source="Orphanet:180074", source="Orphanet:180074/attributed", source="Orphanet:180074/ntbt"} +xref: icd11.foundation:113532659 {source="MONDO:equivalentTo"} xref: Orphanet:180074 {source="MONDO:equivalentTo"} is_a: MONDO:0015831 {source="Orphanet:180074"} ! unilateral aplasia of the mullerian ducts @@ -342570,6 +344814,7 @@ subset: orphanet_rare {source="Orphanet:180111"} subset: rare xref: GARD:20178 {source="Orphanet:180111"} xref: ICD10CM:Q51.1 {source="Orphanet:180111/ntbt", source="Orphanet:180111"} +xref: icd11.foundation:1145216664 {source="MONDO:equivalentTo"} xref: Orphanet:180111 {source="MONDO:equivalentTo"} is_a: MONDO:0015834 {source="Orphanet:180111"} ! didelphys uterus @@ -342596,6 +344841,7 @@ subset: rare synonym: "uterus arcuatus" EXACT [Orphanet:180118] synonym: "uterus cordiformis" EXACT [Orphanet:180118] xref: ICD10CM:Q51.3 {source="Orphanet:180118", source="Orphanet:180118/ntbt"} +xref: icd11.foundation:282476394 {source="MONDO:equivalentTo"} xref: Orphanet:180118 {source="MONDO:equivalentObsolete"} xref: SCTID:14689000 {source="MONDO:equivalentTo"} xref: UMLS:C0266397 {source="Orphanet:180118", source="Orphanet:180118/e", source="MONDO:notFoundInDiseaseSubset"} @@ -342616,6 +344862,7 @@ subset: orphanet_rare {source="Orphanet:180122"} subset: rare xref: GARD:20180 {source="Orphanet:180122"} xref: ICD10CM:Q51.2 {source="Orphanet:180122/ntbt", source="Orphanet:180122"} +xref: icd11.foundation:1959106408 {source="MONDO:equivalentTo"} xref: icd11.foundation:1959106408 {source="MONDO:equivalentTo", source="Orphanet:180122"} xref: MedDRA:10062606 {source="Orphanet:180122/e", source="Orphanet:180122"} xref: Orphanet:180122 {source="MONDO:equivalentTo"} @@ -342671,6 +344918,7 @@ subset: orphanet_rare {source="Orphanet:180134"} subset: rare xref: GARD:20183 {source="Orphanet:180134"} xref: ICD10CM:Q51.3 {source="Orphanet:180134/e", source="Orphanet:180134"} +xref: icd11.foundation:1965739367 {source="MONDO:equivalentTo"} xref: icd11.foundation:1965739367 {source="MONDO:equivalentTo", source="Orphanet:180134"} xref: MedDRA:10004550 {source="Orphanet:180134/e", source="Orphanet:180134"} xref: Orphanet:180134 {source="MONDO:equivalentTo"} @@ -342800,6 +345048,7 @@ subset: rare xref: GARD:20190 {source="Orphanet:180157"} xref: HP:0008740 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q52.1 {source="Orphanet:180157/ntbt", source="Orphanet:180157"} +xref: icd11.foundation:1594393492 {source="MONDO:equivalentTo"} xref: Orphanet:180157 {source="MONDO:equivalentTo"} is_a: MONDO:0002263 {source="https://orcid.org/0000-0002-5002-8648"} ! female reproductive system disorder is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder @@ -342821,6 +345070,7 @@ xref: GARD:20191 {source="Orphanet:180160"} xref: HP:0000145 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q52.1 {source="Orphanet:180160/ntbt", source="Orphanet:180160"} xref: ICD10CM:Q52.11 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1265288464 {source="MONDO:equivalentTo"} xref: Orphanet:180160 {source="MONDO:equivalentTo"} is_a: MONDO:0002263 {source="https://orcid.org/0000-0002-5002-8648"} ! female reproductive system disorder is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder @@ -342880,6 +345130,7 @@ synonym: "polymastia" EXACT [Orphanet:180182] xref: GARD:20195 {source="Orphanet:180182"} xref: ICD10CM:Q83.1 {source="Orphanet:180182", source="Orphanet:180182/e"} xref: icd11.foundation:1458532658 {source="Orphanet:180182", source="MONDO:equivalentTo"} +xref: icd11.foundation:1458532658 {source="MONDO:equivalentTo"} xref: MedDRA:10049786 {source="Orphanet:180182", source="Orphanet:180182/e"} xref: Orphanet:180182 {source="MONDO:equivalentTo"} xref: UMLS:C0266010 {source="Orphanet:180182", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:180182/e"} @@ -343003,6 +345254,7 @@ subset: orphanet_rare {source="Orphanet:180229"} subset: rare synonym: "gonadal polyembryoma" RELATED [GARD:0009621] xref: GARD:9621 {source="Orphanet:180229"} +xref: icd11.foundation:1497019688 {source="MONDO:equivalentTo"} xref: NCIT:C66776 {source="MONDO:equivalentTo"} xref: Orphanet:180229 {source="MONDO:equivalentTo"} xref: UMLS:C0334518 {source="Orphanet:180229", source="MONDO:equivalentTo", source="Orphanet:180229/e"} @@ -343382,6 +345634,7 @@ synonym: "hidrotic ectodermal dysplasia Halal type" RELATED [GARD:0000280] synonym: "trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome" EXACT [Orphanet:1809] xref: GARD:280 {source="Orphanet:1809"} xref: ICD10CM:Q82.8 {source="Orphanet:1809/attributed", source="Orphanet:1809/ntbt", source="Orphanet:1809"} +xref: icd11.foundation:1668450131 {source="MONDO:equivalentTo"} xref: MESH:C535621 {source="MONDO:equivalentTo"} xref: Orphanet:1809 {source="MONDO:equivalentTo"} xref: SCTID:721147000 {source="MONDO:equivalentTo"} @@ -343402,6 +345655,7 @@ synonym: "autosomal dominant anhidrotic ectodermal dysplasia" EXACT [Orphanet:18 synonym: "hypohidrotic ectodermal dysplasia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: GARD:2048 {source="Orphanet:1810"} xref: ICD10CM:Q82.4 {source="Orphanet:1810", source="Orphanet:1810/attributed", source="Orphanet:1810/ntbt"} +xref: icd11.foundation:222258115 {source="MONDO:equivalentTo"} xref: Orphanet:1810 {source="MONDO:equivalentTo"} xref: UMLS:C0265331 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1810", source="Orphanet:1810/e"} is_a: MONDO:0016535 {source="MONDO:Redundant", source="Orphanet:1810"} ! hypohidrotic ectodermal dysplasia @@ -343829,6 +346083,7 @@ xref: ICD10CM:B43.1 {source="Orphanet:182", source="Orphanet:182/btnt"} xref: ICD10CM:B43.2 {source="Orphanet:182", source="Orphanet:182/btnt"} xref: ICD10CM:B43.8 {source="Orphanet:182", source="Orphanet:182/btnt"} xref: ICD10CM:B43.9 {source="DOID:1562", source="Orphanet:182", source="Orphanet:182/btnt"} +xref: icd11.foundation:130801610 {source="MONDO:equivalentTo"} xref: icd11.foundation:1438584733 {source="MONDO:equivalentTo", source="Orphanet:182", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:117.2 {source="DOID:1562", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10008803 {source="Orphanet:182", source="Orphanet:182/e"} @@ -344164,6 +346419,7 @@ synonym: "PPH" RELATED ABBREVIATION [GARD:0007501] synonym: "pulmonary arterial hypertension" EXACT CLINGEN_LABEL [] synonym: "PVOD/PCH" NARROW ABBREVIATION [PMID:30545973] xref: GARD:7501 {source="Orphanet:182090"} +xref: icd11.foundation:1931148955 {source="MONDO:equivalentTo"} xref: icd11.foundation:1931148955 {source="MONDO:equivalentTo", source="Orphanet:182090"} xref: MedDRA:10064911 {source="Orphanet:182090/e", source="Orphanet:182090"} xref: MESH:C536282 {source="Orphanet:182090/e", source="Orphanet:182090"} @@ -344221,6 +346477,7 @@ synonym: "coal worker's pneumoconiosis" RELATED [GARD:0008356] xref: DOID:10316 {source="MONDO:equivalentTo"} xref: GARD:20245 {source="Orphanet:182098"} xref: ICD10CM:J64 {source="DOID:10316"} +xref: icd11.foundation:611962875 {source="MONDO:equivalentTo"} xref: icd11.foundation:611962875 {source="MONDO:equivalentTo", source="Orphanet:182098"} xref: ICD9:505 {source="DOID:10316", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10035653 {source="Orphanet:182098", source="Orphanet:182098/e"} @@ -344482,6 +346739,7 @@ synonym: "frontometaphyseal dysplasia" EXACT [MONDO:Lexical, OMIM:305620] xref: DOID:0111785 {source="MONDO:equivalentTo"} xref: GARD:826 {source="Orphanet:1826"} xref: ICD10CM:Q78.5 {source="Orphanet:1826/attributed", source="Orphanet:1826/ntbt", source="Orphanet:1826"} +xref: icd11.foundation:1767187670 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538064 {source="Orphanet:1826/e", source="MONDO:equivalentTo", source="Orphanet:1826"} xref: OMIMPS:305620 {source="MONDO:equivalentTo"} @@ -344544,6 +346802,7 @@ xref: EFO:0007208 {source="MONDO:equivalentTo"} xref: GARD:6111 {source="Orphanet:183"} xref: ICD10CM:M30.1 {source="DOID:3049", source="Orphanet:183", source="Orphanet:183/e"} xref: icd11.foundation:835880885 {source="MONDO:equivalentTo", source="Orphanet:183"} +xref: icd11.foundation:835880885 {source="MONDO:equivalentTo"} xref: MedDRA:10048594 {source="Orphanet:183", source="Orphanet:183/e"} xref: MESH:C531653 {source="Orphanet:183", source="Orphanet:183/e"} xref: MESH:D015267 {source="DOID:3049", source="MONDO:equivalentTo", source="EFO:0007208", source="Orphanet:183", source="Orphanet:183/e"} @@ -345234,6 +347493,7 @@ subset: orphanet_rare {source="Orphanet:1844"} subset: rare synonym: "bone dysplasia Azouz type" RELATED [GARD:0000920] xref: ICD10CM:Q78.4 {source="Orphanet:1844/inclusion", source="Orphanet:1844", source="Orphanet:1844/ntbt"} +xref: icd11.foundation:2054115498 {source="MONDO:equivalentTo"} xref: Orphanet:1844 {source="MONDO:equivalentObsolete"} xref: SCTID:720566004 {source="MONDO:equivalentTo"} xref: UMLS:C4303993 {source="MONDO:equivalentTo"} @@ -345278,6 +347538,7 @@ synonym: "Halasz syndrome" EXACT [Orphanet:185] synonym: "hypogenetic lung syndrome" EXACT [Orphanet:185] xref: GARD:18680 {source="Orphanet:185"} xref: ICD10CM:Q26.8 {source="Orphanet:185/ntbt", source="Orphanet:185"} +xref: icd11.foundation:1321054364 {source="MONDO:equivalentTo"} xref: icd11.foundation:1321054364 {source="MONDO:equivalentTo", source="Orphanet:185"} xref: ICD9:747.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10051951 {source="Orphanet:185/e", source="Orphanet:185"} @@ -345424,6 +347685,7 @@ synonym: "mixed sclerosing bone dystrophy" EXACT [Orphanet:1879] synonym: "MSBD syndrome" EXACT [Orphanet:1879] xref: GARD:3690 {source="Orphanet:1879"} xref: ICD10CM:M85.8 {source="Orphanet:1879", source="Orphanet:1879/attributed", source="Orphanet:1879/ntbt"} +xref: icd11.foundation:152942585 {source="MONDO:equivalentTo"} xref: MESH:C563593 {source="MONDO:equivalentTo"} xref: Orphanet:1879 {source="MONDO:equivalentTo"} xref: UMLS:C3149695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1879"} @@ -345509,6 +347771,7 @@ synonym: "primary pigmented nodular adrenal dysplasia" EXACT [NCIT:C131196] xref: DOID:0060280 {source="MONDO:equivalentTo"} xref: GARD:10906 {source="Orphanet:189439"} xref: ICD10CM:E24.8 {source="Orphanet:189439/attributed", source="Orphanet:189439/ntbt", source="Orphanet:189439"} +xref: icd11.foundation:2003695246 {source="MONDO:equivalentTo"} xref: MESH:C566469 {source="DOID:0060280"} xref: MESH:C566472 {source="DOID:0060280"} xref: NCIT:C131196 {source="MONDO:equivalentTo"} @@ -345554,6 +347817,7 @@ synonym: "2-hydroxyglutaric aciduria" EXACT [MESH:C535306] xref: DOID:0050573 {source="MONDO:equivalentTo"} xref: GARD:10761 {source="Orphanet:19"} xref: ICD10CM:E72.8 {source="Orphanet:19/attributed", source="Orphanet:19/ntbt", source="Orphanet:19"} +xref: icd11.foundation:896211058 {source="MONDO:equivalentTo"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535306 {source="MONDO:equivalentTo"} xref: NCIT:C128187 {source="MONDO:equivalentTo"} @@ -345644,6 +347908,7 @@ xref: GARD:2092 {source="Orphanet:1902"} xref: ICD10CM:A48.8 {source="Orphanet:1902/ntbt", source="Orphanet:1902"} xref: ICD10CM:A77.4 {source="DOID:10242"} xref: ICD10CM:A77.40 {source="DOID:10242"} +xref: icd11.foundation:1116297863 {source="MONDO:equivalentTo"} xref: ICD9:082.4 {source="DOID:10242"} xref: ICD9:082.40 {source="DOID:10242"} xref: MESH:D016873 {source="Orphanet:1902/e", source="MONDO:equivalentTo", source="DOID:10242", source="Orphanet:1902"} @@ -345698,6 +347963,7 @@ synonym: "fetal indomethacin syndrome" EXACT [Orphanet:1909] synonym: "foetal indomethacin syndrome" EXACT OMO:0003005 [] xref: GARD:2303 {source="Orphanet:1909"} xref: ICD10CM:Q86.8 {source="Orphanet:1909", source="Orphanet:1909/ntbt"} +xref: icd11.foundation:1929563114 {source="MONDO:equivalentTo"} xref: Orphanet:1909 {source="MONDO:equivalentTo"} xref: SCTID:715430001 {source="MONDO:equivalentTo"} xref: UMLS:C4275138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -345720,6 +347986,7 @@ synonym: "progeroid nanism" RELATED [GARD:0006122] xref: DOID:2962 {source="MONDO:equivalentTo"} xref: GARD:6122 {source="Orphanet:191"} xref: ICD10CM:Q87.1 {source="Orphanet:191/ntbt", source="Orphanet:191/inclusion", source="Orphanet:191", source="DOID:2962"} +xref: icd11.foundation:1206275070 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10009835 {source="Orphanet:191", source="Orphanet:191/e"} xref: MESH:D003057 {source="Orphanet:191", source="MONDO:equivalentTo", source="DOID:2962", source="Orphanet:191/e"} @@ -345766,6 +348033,7 @@ synonym: "foetal cocaine syndrome" EXACT OMO:0003005 [] synonym: "prenatal cocaine exposure" RELATED [GARD:0001413] xref: GARD:1413 {source="Orphanet:1911"} xref: ICD10CM:Q86.8 {source="Orphanet:1911/ntbt", source="Orphanet:1911"} +xref: icd11.foundation:1604796846 {source="MONDO:equivalentTo"} xref: ICD9:760.75 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:1911 {source="MONDO:equivalentTo"} xref: SCTID:254250002 {source="MONDO:equivalentTo"} @@ -345791,6 +348059,7 @@ synonym: "phenytoin embryopathy" RELATED [GARD:0006435] xref: GARD:6435 {source="Orphanet:1912"} xref: ICD10CM:Q86.1 {source="Orphanet:1912/e", source="MONDO:equivalentTo", source="Orphanet:1912"} xref: icd11.foundation:1894344911 {source="MONDO:equivalentTo", source="Orphanet:1912"} +xref: icd11.foundation:1894344911 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10016508 {source="Orphanet:1912/e", source="Orphanet:1912"} xref: MESH:C537922 {source="Orphanet:1912/e", source="MONDO:equivalentTo", source="Orphanet:1912"} @@ -345817,6 +348086,7 @@ subset: orphanet_rare {source="Orphanet:1913"} subset: rare xref: GARD:18750 {source="Orphanet:1913"} xref: ICD10CM:Q86.8 {source="Orphanet:1913/ntbt", source="Orphanet:1913"} +xref: icd11.foundation:1743242235 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537798 {source="Orphanet:1913/e", source="MONDO:equivalentTo", source="Orphanet:1913"} xref: Orphanet:1913 {source="MONDO:equivalentTo"} @@ -345889,6 +348159,7 @@ xref: DOID:0050665 {source="MONDO:equivalentTo", source="MONDO:preferredExternal xref: DOID:0050667 {source="MONDO:equivalentTo"} xref: GARD:599 {source="Orphanet:1915"} xref: ICD10CM:Q86.0 {source="Orphanet:1915/e", source="Orphanet:1915"} +xref: icd11.foundation:362980699 {source="MONDO:equivalentTo"} xref: icd11.foundation:362980699 {source="MONDO:equivalentTo", source="Orphanet:1915"} xref: MedDRA:10016845 {source="Orphanet:1915/e", source="Orphanet:1915"} xref: MESH:D005310 {source="Orphanet:1915/e", source="Orphanet:1915"} @@ -345947,6 +348218,7 @@ synonym: "Methyl mercury antenatal infection" EXACT [Orphanet:1917] synonym: "Minamata disease" RELATED [Orphanet:1917] xref: GARD:3575 {source="Orphanet:1917"} xref: ICD10CM:T56.1 {source="Orphanet:1917", source="Orphanet:1917/ntbt"} +xref: icd11.foundation:1975519045 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D020262 {source="MONDO:equivalentTo"} xref: Orphanet:1917 {source="MONDO:equivalentTo"} @@ -345969,6 +348241,7 @@ synonym: "minoxidil antenatal exposure" RELATED [GARD:0002308] synonym: "minoxidil antenatal infection" EXACT [Orphanet:1918] xref: GARD:2308 {source="Orphanet:1918"} xref: ICD10CM:Q86.8 {source="Orphanet:1918", source="Orphanet:1918/ntbt"} +xref: icd11.foundation:4930572 {source="MONDO:equivalentTo"} xref: ICD9:760.79 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:1918 {source="MONDO:equivalentTo"} xref: SCTID:254251003 {source="MONDO:equivalentTo"} @@ -345988,6 +348261,7 @@ subset: rare synonym: "phenobarbital antenatal exposure" RELATED [GARD:0004315] xref: GARD:4315 {source="Orphanet:1919"} xref: ICD10CM:Q86.8 {source="Orphanet:1919/ntbt", source="Orphanet:1919"} +xref: icd11.foundation:1602901948 {source="MONDO:equivalentTo"} xref: Orphanet:1919 {source="MONDO:equivalentTo"} xref: SCTID:715431002 {source="MONDO:equivalentTo"} xref: UMLS:C4275281 {source="MONDO:equivalentTo"} @@ -346008,6 +348282,7 @@ synonym: "microcephaly, central nervous system dysfunction, minor craniofacial a synonym: "toluene embryopathy" EXACT [GARD:0002672, MESH:C538114] xref: GARD:18751 {source="Orphanet:1920"} xref: ICD10CM:Q86.8 {source="Orphanet:1920", source="Orphanet:1920/ntbt"} +xref: icd11.foundation:1446076607 {source="MONDO:equivalentTo"} xref: MESH:C538114 {source="MONDO:equivalentTo", source="UMLS:C2931737"} xref: Orphanet:1920 {source="MONDO:equivalentTo"} xref: UMLS:C2931737 {source="GARD:0002672", source="MONDO:equivalentTo"} @@ -346034,6 +348309,7 @@ synonym: "MMI/CMZ embryofetopathy" EXACT [Orphanet:1923] synonym: "MMI/CMZ embryopathy" EXACT [Orphanet:1923] xref: GARD:3573 {source="Orphanet:1923"} xref: ICD10CM:Q86.8 {source="Orphanet:1923", source="Orphanet:1923/ntbt"} +xref: icd11.foundation:1204409156 {source="MONDO:equivalentTo"} xref: Orphanet:1923 {source="MONDO:equivalentTo", source="GARD:0003573"} xref: SCTID:724144006 {source="MONDO:equivalentTo"} xref: UMLS:C4510379 {source="MONDO:equivalentTo"} @@ -346052,6 +348328,7 @@ subset: orphanet_rare {source="Orphanet:1926"} subset: rare xref: GARD:16580 {source="Orphanet:1926"} xref: ICD10CM:P00.4 {source="Orphanet:1926/btnt", source="Orphanet:1926"} +xref: icd11.foundation:778367655 {source="MONDO:equivalentTo"} xref: NCIT:C113485 {source="MONDO:equivalentTo"} xref: Orphanet:1926 {source="MONDO:equivalentTo"} xref: SCTID:716020005 {source="MONDO:equivalentTo"} @@ -346103,6 +348380,7 @@ subset: rare synonym: "anterior encephalocele" EXACT [Orphanet:1931] xref: GARD:18753 {source="Orphanet:1931"} xref: ICD10CM:Q01.0 {source="MONDO:equivalentTo", source="Orphanet:1931/specific", source="Orphanet:1931", source="Orphanet:1931/e"} +xref: icd11.foundation:1375023725 {source="MONDO:equivalentTo"} xref: Orphanet:1931 {source="MONDO:equivalentTo"} xref: SCTID:253103006 {source="MONDO:equivalentTo"} xref: UMLS:C0431289 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1931"} @@ -346140,6 +348418,7 @@ xref: DOID:308 {source="MONDO:equivalentTo"} xref: EFO:1001900 {source="MONDO:equivalentTo"} xref: GARD:16581 {source="Orphanet:1935"} xref: ICD10CM:G40.4 {source="Orphanet:1935/e", source="Orphanet:1935/inclusion", source="Orphanet:1935"} +xref: icd11.foundation:1877241469 {source="MONDO:equivalentTo"} xref: MESH:D004831 {source="DOID:308"} xref: NCIT:C116593 {source="MONDO:equivalentTo"} xref: Orphanet:1935 {source="MONDO:equivalentTo"} @@ -346283,6 +348562,7 @@ subset: rare xref: DOID:9240 {source="MONDO:equivalentTo"} xref: ICD10CM:I73.8 {source="Orphanet:1956/inclusion", source="Orphanet:1956", source="Orphanet:1956/ntbt"} xref: ICD10CM:I73.81 {source="MONDO:equivalentTo", source="DOID:9240"} +xref: icd11.foundation:838760425 {source="MONDO:equivalentTo"} xref: ICD9:443.82 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9240"} xref: MedDRA:10015284 {source="Orphanet:1956/e", source="Orphanet:1956"} xref: MESH:D004916 {source="Orphanet:1956/e", source="MONDO:equivalentTo", source="DOID:9240", source="Orphanet:1956"} @@ -346332,6 +348612,7 @@ xref: GARD:6389 {source="Orphanet:1959"} xref: ICD10CM:D69.3 {source="Orphanet:1959/ntbt", source="Orphanet:1959"} xref: ICD10CM:D69.41 {source="DOID:8931", source="MONDO:equivalentTo"} xref: icd11.foundation:1048228553 {source="MONDO:equivalentTo", source="Orphanet:1959"} +xref: icd11.foundation:1048228553 {source="MONDO:equivalentTo"} xref: ICD9:287.32 {source="DOID:8931", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10053873 {source="Orphanet:1959/e", source="Orphanet:1959"} xref: MESH:C536380 {source="DOID:8931", source="MONDO:equivalentTo"} @@ -346407,6 +348688,7 @@ synonym: "De Lange syndrome" EXACT [DOID:11725] xref: DOID:11725 {source="MONDO:equivalentTo"} xref: GARD:10109 {source="Orphanet:199"} xref: ICD10CM:Q87.1 {source="DOID:11725", source="Orphanet:199/ntbt", source="Orphanet:199/inclusion", source="Orphanet:199"} +xref: icd11.foundation:1801560012 {source="MONDO:equivalentTo"} xref: MedDRA:10056354 {source="Orphanet:199/e", source="Orphanet:199"} xref: MESH:D003635 {source="Orphanet:199/e", source="DOID:11725", source="Orphanet:199"} xref: NCIT:C75016 {source="DOID:11725", source="MONDO:equivalentTo"} @@ -346470,6 +348752,7 @@ xref: DOID:4968 {source="MONDO:equivalentTo"} xref: GARD:7170 {source="Orphanet:199244"} xref: ICD10CM:E24.1 {source="Orphanet:199244", source="Orphanet:199244/e", source="DOID:4968"} xref: icd11.foundation:1945677910 {source="Orphanet:199244", source="MONDO:equivalentTo"} +xref: icd11.foundation:1945677910 {source="MONDO:equivalentTo"} xref: MedDRA:10028913 {source="Orphanet:199244", source="Orphanet:199244/e"} xref: MESH:C531754 {source="MONDO:equivalentTo"} xref: MESH:D009347 {source="Orphanet:199244", source="MONDO:equivalentTo", source="Orphanet:199244/e", source="DOID:4968"} @@ -346607,6 +348890,7 @@ subset: orphanet_rare {source="Orphanet:199293"} subset: rare xref: GARD:20330 {source="Orphanet:199293"} xref: ICD10CM:Q40.2 {source="Orphanet:199293/ntbt", source="Orphanet:199293"} +xref: icd11.foundation:1695007532 {source="MONDO:equivalentTo"} xref: ICD9:750.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:199293 {source="MONDO:equivalentTo"} xref: SCTID:83714006 {source="MONDO:equivalentTo"} @@ -346627,6 +348911,7 @@ subset: orphanet_rare {source="Orphanet:199299"} subset: rare xref: GARD:20331 {source="Orphanet:199299"} xref: ICD10CM:E23.6 {source="Orphanet:199299", source="Orphanet:199299/ntbt"} +xref: icd11.foundation:1651831896 {source="MONDO:equivalentTo"} xref: Orphanet:199299 {source="MONDO:equivalentTo"} is_a: MONDO:0019832 {source="Orphanet:199299"} ! acquired pituitary hormone deficiency @@ -346738,6 +349023,7 @@ xref: GARD:20333 {source="Orphanet:199323"} xref: ICD10CM:H44.0 {source="Orphanet:199323/btnt", source="Orphanet:199323"} xref: ICD10CM:H44.1 {source="Orphanet:199323/btnt", source="Orphanet:199323"} xref: icd11.foundation:1211141166 {source="Orphanet:199323", source="MONDO:equivalentTo"} +xref: icd11.foundation:1211141166 {source="MONDO:equivalentTo"} xref: ICD9:360.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10014801 {source="Orphanet:199323", source="Orphanet:199323/e"} xref: MESH:D009877 {source="Orphanet:199323", source="MONDO:equivalentTo", source="Orphanet:199323/e", source="DOID:4692"} @@ -346829,6 +349115,7 @@ subset: orphanet_rare {source="Orphanet:199627"} subset: rare xref: DOID:0060042 {source="MONDO:equivalentTo"} xref: GARD:20336 {source="Orphanet:199627"} +xref: icd11.foundation:2136163538 {source="MONDO:equivalentTo"} xref: ICD9:299.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10003747 {source="Orphanet:199627/e", source="Orphanet:199627"} xref: Orphanet:199627 {source="MONDO:equivalentTo"} @@ -346941,6 +349228,7 @@ subset: ordo_group_of_disorders {source="Orphanet:200037"} subset: orphanet_rare {source="Orphanet:200037"} subset: rare xref: GARD:20340 {source="Orphanet:200037"} +xref: icd11.foundation:2047715743 {source="MONDO:equivalentTo"} xref: icd11.foundation:2047715743 {source="Orphanet:200037", source="MONDO:equivalentTo"} xref: ICD9:333.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:200037 {source="MONDO:equivalentTo"} @@ -347003,6 +349291,7 @@ subset: orphanet_rare {source="Orphanet:200421"} subset: rare xref: GARD:17099 {source="Orphanet:200421"} xref: ICD10CM:D84.1 {source="Orphanet:200421", source="Orphanet:200421/attributed", source="Orphanet:200421/ntbt"} +xref: icd11.foundation:946399055 {source="MONDO:equivalentTo"} xref: Orphanet:200421 {source="MONDO:equivalentTo"} xref: UMLS:C0398777 {source="Orphanet:200421", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0012350 ! complement factor H deficiency @@ -347086,6 +349375,7 @@ xref: ICD10CM:Q35.5 {source="Orphanet:2014", source="Orphanet:2014/btnt"} xref: ICD10CM:Q35.7 {source="Orphanet:2014", source="Orphanet:2014/btnt"} xref: ICD10CM:Q35.9 {source="Orphanet:2014", source="Orphanet:2014/btnt", source="DOID:674"} xref: icd11.foundation:2129534948 {source="Orphanet:2014", source="MONDO:equivalentTo"} +xref: icd11.foundation:2129534948 {source="MONDO:equivalentTo"} xref: ICD9:749.0 {source="DOID:674"} xref: ICD9:749.00 {source="DOID:674"} xref: MedDRA:10009269 {source="Orphanet:2014", source="Orphanet:2014/e"} @@ -347141,6 +349431,7 @@ synonym: "congenital sternal cleft" RELATED [GARD:0005012] synonym: "sternum bifidum" EXACT [Orphanet:2017] xref: GARD:5012 {source="Orphanet:2017"} xref: ICD10CM:Q76.7 {source="Orphanet:2017", source="Orphanet:2017/ntbt"} +xref: icd11.foundation:1308914573 {source="MONDO:equivalentTo"} xref: ICD9:756.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537489 {source="MONDO:equivalentTo", source="Orphanet:2017", source="Orphanet:2017/e"} xref: Orphanet:2017 {source="MONDO:equivalentTo"} @@ -347182,6 +349473,7 @@ subset: rare xref: DOID:0060465 {source="MONDO:equivalentTo"} xref: GARD:2321 {source="Orphanet:2021"} xref: ICD10CM:Q77.7 {source="Orphanet:2021/attributed", source="Orphanet:2021/ntbt", source="Orphanet:2021"} +xref: icd11.foundation:1412541453 {source="MONDO:equivalentTo"} xref: MESH:C562524 {source="DOID:0060465", source="MONDO:equivalentTo"} xref: OMIMPS:228520 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:2021 {source="DOID:0060465", source="MONDO:equivalentTo"} @@ -347210,6 +349502,7 @@ synonym: "hereditary gingival hyperplasia" EXACT [DOID:0060466, Orphanet:2024] xref: DOID:0060466 {source="MONDO:equivalentTo"} xref: GARD:16582 {source="Orphanet:2024"} xref: ICD10CM:K06.1 {source="Orphanet:2024/attributed", source="Orphanet:2024/ntbt", source="Orphanet:2024"} +xref: icd11.foundation:1911315646 {source="MONDO:equivalentTo"} xref: MESH:C562884 {source="DOID:0060466"} xref: OMIMPS:135300 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:2024 {source="DOID:0060466", source="MONDO:equivalentTo"} @@ -347235,6 +349528,7 @@ synonym: "Murray-Puretic-Drescher syndrome" EXACT [Orphanet:2028] synonym: "Puretic syndrome" EXACT [Orphanet:2028] xref: GARD:16583 {source="Orphanet:2028"} xref: ICD10CM:M72.8 {source="Orphanet:2028", source="Orphanet:2028/attributed", source="Orphanet:2028/ntbt"} +xref: icd11.foundation:1890146024 {source="MONDO:equivalentTo"} xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D057770 {source="Orphanet:2028", source="Orphanet:2028/e"} xref: NCIT:C98297 {source="MONDO:equivalentTo"} @@ -347312,6 +349606,7 @@ xref: ICD10CM:B74.4 {source="Orphanet:2034", source="Orphanet:2034/e"} xref: ICD10CM:B74.8 {source="Orphanet:2034", source="Orphanet:2034/e"} xref: ICD10CM:B74.9 {source="Orphanet:2034", source="Orphanet:2034/e", source="DOID:1080"} xref: icd11.foundation:1975325075 {source="Orphanet:2034", source="MONDO:equivalentTo"} +xref: icd11.foundation:1975325075 {source="MONDO:equivalentTo"} xref: ICD9:125.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1080"} xref: MedDRA:10016674 {source="Orphanet:2034", source="Orphanet:2034/e"} xref: MESH:D005368 {source="Orphanet:2034", source="MONDO:equivalentTo", source="Orphanet:2034/e", source="DOID:1080"} @@ -347350,6 +349645,7 @@ synonym: "congenital aortopulmonary septal defect" EXACT [Orphanet:2037] xref: GARD:738 {source="Orphanet:2037"} xref: ICD10CM:Q21.4 {source="Orphanet:2037", source="Orphanet:2037/e"} xref: icd11.foundation:1988278118 {source="Orphanet:2037", source="MONDO:equivalentTo"} +xref: icd11.foundation:1988278118 {source="MONDO:equivalentTo"} xref: MESH:C537782 {source="Orphanet:2037", source="MONDO:equivalentTo", source="Orphanet:2037/e"} xref: Orphanet:2037 {source="MONDO:equivalentTo"} xref: UMLS:C2931610 {source="Orphanet:2037", source="MONDO:equivalentTo", source="Orphanet:2037/e"} @@ -347382,6 +349678,7 @@ subset: rare synonym: "sporadic CJD" EXACT [Orphanet:204] xref: GARD:6956 {source="Orphanet:204"} xref: ICD10CM:A81.0 {source="Orphanet:204/ntbt", source="Orphanet:204"} +xref: icd11.foundation:1553463690 {source="MONDO:equivalentTo"} xref: icd11.foundation:1553463690 {source="Orphanet:204", source="MONDO:equivalentTo"} xref: ICD9:046.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10011384 {source="Orphanet:204", source="Orphanet:204/e"} @@ -347402,6 +349699,7 @@ subset: orphanet_rare {source="Orphanet:2040"} subset: rare xref: GARD:1475 {source="Orphanet:2040"} xref: ICD10CM:Q32.4 {source="Orphanet:2040/ntbt", source="Orphanet:2040"} +xref: icd11.foundation:420429663 {source="MONDO:equivalentTo"} xref: Orphanet:2040 {source="MONDO:equivalentTo"} xref: SCTID:719452004 {source="MONDO:equivalentTo"} is_a: MONDO:0005087 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-3458-4839"} ! respiratory system disorder @@ -347477,6 +349775,7 @@ synonym: "Cole Carpenter syndrome" RELATED [GARD:0001425] xref: DOID:0060438 {source="MONDO:equivalentTo"} xref: GARD:1425 {source="Orphanet:2050"} xref: ICD10CM:Q78.0 {source="Orphanet:2050", source="Orphanet:2050/attributed", source="Orphanet:2050/ntbt"} +xref: icd11.foundation:1458793358 {source="MONDO:equivalentTo"} xref: MESH:C535963 {source="Orphanet:2050/e", source="MONDO:equivalentTo", source="Orphanet:2050", source="DOID:0060438"} xref: NCIT:C130985 {source="MONDO:equivalentTo"} xref: OMIMPS:112240 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} @@ -347558,6 +349857,7 @@ synonym: "HPRT1 deficiency" EXACT [Orphanet:206428] synonym: "hypoxanthine-guanine phosphoribosyltransferase 1 deficiency" EXACT [Orphanet:206428] xref: GARD:2943 {source="Orphanet:206428"} xref: ICD10CM:E79.8 {source="Orphanet:206428/attributed", source="Orphanet:206428/ntbt", source="Orphanet:206428"} +xref: icd11.foundation:1293396861 {source="MONDO:equivalentTo"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:206428 {source="MONDO:equivalentTo"} xref: SCTID:124275001 {source="MONDO:equivalentTo"} @@ -347578,6 +349878,7 @@ synonym: "Krabbe disease, classic form" EXACT [Orphanet:206436] synonym: "Krabbe disease, early-onset" EXACT [Orphanet:206436] xref: GARD:20343 {source="Orphanet:206436"} xref: ICD10CM:E75.2 {source="Orphanet:206436", source="Orphanet:206436/attributed", source="Orphanet:206436/ntbt"} +xref: icd11.foundation:999546344 {source="MONDO:equivalentTo"} xref: Orphanet:206436 {source="MONDO:equivalentTo"} xref: SCTID:238030005 {source="MONDO:equivalentTo"} xref: UMLS:C0751273 {source="Orphanet:206436", source="Orphanet:206436/e", source="MONDO:notFoundInDiseaseSubset"} @@ -347616,6 +349917,7 @@ subset: rare synonym: "Krabbe disease of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: GARD:20345 {source="Orphanet:206448"} xref: ICD10CM:E75.2 {source="Orphanet:206448/attributed", source="Orphanet:206448/ntbt", source="Orphanet:206448"} +xref: icd11.foundation:699668826 {source="MONDO:equivalentTo"} xref: Orphanet:206448 {source="MONDO:equivalentTo"} xref: UMLS:C0268252 {source="Orphanet:206448", source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:206448/e"} is_a: MONDO:0009499 {source="MONDO:Redundant", source="Orphanet:206448"} ! Krabbe disease @@ -347840,6 +350142,7 @@ synonym: "immune-mediated rippling muscle disease" EXACT [Orphanet:206575] synonym: "Rmd-MG" EXACT [PMID:14694511] xref: GARD:20353 {source="Orphanet:206575"} xref: ICD10CM:G70.8 {source="Orphanet:206575/ntbt", source="Orphanet:206575"} +xref: icd11.foundation:327350590 {source="MONDO:equivalentTo"} xref: Orphanet:206575 {source="MONDO:equivalentTo"} xref: UMLS:C4749335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder @@ -347861,6 +350164,7 @@ synonym: "fowl paralyzes" RELATED [GARD:0006974] synonym: "Marek disease" RELATED [GARD:0006974] synonym: "Marek's disease" RELATED [GARD:0006974] xref: GARD:20354 {source="Orphanet:206586"} +xref: icd11.foundation:177999927 {source="MONDO:equivalentTo"} xref: MESH:D000077162 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: MESH:D008380 {source="MONDO:equivalentTo"} xref: Orphanet:206586 {source="MONDO:equivalentTo"} @@ -347882,6 +350186,7 @@ synonym: "subacute inflammatory demyelinating polyradiculoneuropathy" EXACT [Orp xref: GARD:20355 {source="Orphanet:206594"} xref: ICD10CM:G61.8 {source="Orphanet:206594/ntbt", source="Orphanet:206594"} xref: icd11.foundation:1692167541 {source="MONDO:equivalentTo", source="Orphanet:206594"} +xref: icd11.foundation:1692167541 {source="MONDO:equivalentTo"} xref: Orphanet:206594 {source="MONDO:equivalentTo"} xref: SCTID:277189006 {source="MONDO:equivalentTo"} xref: UMLS:C0456517 {source="MONDO:equivalentTo"} @@ -347977,6 +350282,7 @@ xref: DOID:450 {source="MONDO:equivalentTo"} xref: GARD:10419 {source="Orphanet:206647"} xref: ICD10CM:G71.1 {source="Orphanet:206647", source="Orphanet:206647/attributed", source="Orphanet:206647/ntbt", source="DOID:450"} xref: icd11.foundation:192087511 {source="Orphanet:206647", source="MONDO:equivalentTo"} +xref: icd11.foundation:192087511 {source="MONDO:equivalentTo"} xref: ICD9:359.2 {source="DOID:450"} xref: MedDRA:10068871 {source="Orphanet:206647", source="Orphanet:206647/e"} xref: MESH:D009223 {source="Orphanet:206647", source="MONDO:equivalentTo", source="Orphanet:206647/e"} @@ -348096,6 +350402,7 @@ synonym: "spinal and bulbal muscular atrophy" EXACT [Wikipedia:Spinal_and_bulbar synonym: "spinal-bulbar muscular atrophy" EXACT [https://www.mda.org/disease/spinal-bulbar-muscular-atrophy] xref: GARD:20365 {source="Orphanet:206701"} xref: ICD10CM:G12.2 {source="Orphanet:206701/attributed", source="Orphanet:206701/ntbt", source="Orphanet:206701"} +xref: icd11.foundation:1604214898 {source="MONDO:equivalentTo"} xref: Orphanet:206701 {source="MONDO:equivalentTo"} xref: SCTID:230253001 {source="MONDO:equivalentTo"} xref: UMLS:C0393547 {source="Orphanet:206701", source="MONDO:notFoundInDiseaseSubset"} @@ -348235,6 +350542,7 @@ synonym: "periodic paralysis (disease)" EXACT [https://orcid.org/0000-0002-6601- xref: GARD:20374 {source="Orphanet:206976"} xref: HP:0003768 {source="MONDO:otherHierarchy"} xref: ICD10CM:G72.3 {source="Orphanet:206976", source="Orphanet:206976/e"} +xref: icd11.foundation:577112387 {source="MONDO:equivalentTo"} xref: icd11.foundation:577112387 {source="Orphanet:206976", source="MONDO:equivalentTo"} xref: MedDRA:10016208 {source="Orphanet:206976", source="Orphanet:206976/e"} xref: MESH:D010245 {source="MONDO:relatedTo", source="Orphanet:206976", source="Orphanet:206976/e"} @@ -348291,6 +350599,7 @@ subset: orphanet_rare {source="Orphanet:206991"} subset: rare xref: GARD:20377 {source="Orphanet:206991"} xref: ICD10CM:M60.0 {source="Orphanet:206991", source="Orphanet:206991/ntbt"} +xref: icd11.foundation:864399177 {source="MONDO:equivalentTo"} xref: ICD9:729.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10051512 {source="Orphanet:206991/e", source="Orphanet:206991"} xref: Orphanet:206991 {source="MONDO:equivalentTo"} @@ -348310,6 +350619,7 @@ subset: orphanet_rare {source="Orphanet:206994"} subset: rare xref: GARD:20378 {source="Orphanet:206994"} xref: ICD10CM:M60.0 {source="Orphanet:206994/ntbt", source="Orphanet:206994"} +xref: icd11.foundation:1277815767 {source="MONDO:equivalentTo"} xref: Orphanet:206994 {source="MONDO:equivalentTo"} xref: SCTID:30330001 {source="MONDO:equivalentTo"} intersection_of: MONDO:0005550 ! infectious disease @@ -348327,6 +350637,7 @@ subset: orphanet_rare {source="Orphanet:206997"} subset: rare xref: GARD:20379 {source="Orphanet:206997"} xref: ICD10CM:M60.0 {source="Orphanet:206997", source="Orphanet:206997/ntbt"} +xref: icd11.foundation:110646208 {source="MONDO:equivalentTo"} xref: ICD9:728.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:206997 {source="MONDO:equivalentTo"} xref: SCTID:60970005 {source="MONDO:equivalentTo"} @@ -348380,6 +350691,7 @@ subset: orphanet_rare {source="Orphanet:207000"} subset: rare xref: GARD:20380 {source="Orphanet:207000"} xref: ICD10CM:M60.0 {source="Orphanet:207000", source="Orphanet:207000/ntbt"} +xref: icd11.foundation:1054267564 {source="MONDO:equivalentTo"} xref: Orphanet:207000 {source="MONDO:equivalentTo"} xref: SCTID:240111007 {source="MONDO:equivalentTo"} xref: UMLS:C0410251 {source="MONDO:equivalentTo", source="Orphanet:207000", source="Orphanet:207000/e"} @@ -348881,6 +351193,7 @@ subset: rare xref: DOID:0080921 {source="MONDO:equivalentTo"} xref: GARD:10783 {source="Orphanet:208444"} xref: ICD10CM:Q04.3 {source="Orphanet:208444/attributed", source="Orphanet:208444/ntbt", source="Orphanet:208444"} +xref: icd11.foundation:688947844 {source="MONDO:equivalentTo"} xref: Orphanet:208444 {source="MONDO:equivalentTo"} is_a: MONDO:0017091 {source="Orphanet:208444"} ! bilateral polymicrogyria property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10783/bilateral-frontal-polymicrogyria" xsd:anyURI {source="GARD:0010783"} @@ -349006,6 +351319,7 @@ synonym: "optic tract glioma" EXACT [MONDO:patterns/location, NCIT:C8567] synonym: "visual pathway glioma" EXACT [NCIT:C8567] xref: GARD:4107 {source="Orphanet:2086"} xref: ICD10CM:D33.3 {source="Orphanet:2086/ntbt", source="Orphanet:2086"} +xref: icd11.foundation:1000103370 {source="MONDO:equivalentTo"} xref: NCIT:C8567 {source="MONDO:equivalentTo"} xref: Orphanet:2086 {source="MONDO:equivalentTo"} xref: UMLS:C0796418 {source="MONDO:equivalentTo", source="NCIT:C8567", source="Orphanet:2086"} @@ -349148,6 +351462,7 @@ xref: DOID:3144 {source="MONDO:equivalentTo"} xref: GARD:6227 {source="Orphanet:209"} xref: ICD10CM:Q82.8 {source="DOID:3144", source="Orphanet:209/inclusion", source="Orphanet:209", source="Orphanet:209/ntbt"} xref: icd11.foundation:1227401566 {source="MONDO:equivalentTo", source="Orphanet:209"} +xref: icd11.foundation:1227401566 {source="MONDO:equivalentTo"} xref: MedDRA:10011692 {source="Orphanet:209", source="Orphanet:209/e"} xref: MESH:D003483 {source="DOID:3144", source="MONDO:equivalentTo", source="Orphanet:209", source="Orphanet:209/e"} xref: NCIT:C84663 {source="DOID:3144", source="MONDO:equivalentTo"} @@ -349530,6 +351845,7 @@ synonym: "DRRD" EXACT [OMIM:609508] synonym: "rhegmatogenous retinal detachment, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:609508] xref: GARD:17104 {source="Orphanet:209867"} xref: ICD10CM:H33.0 {source="Orphanet:209867", source="Orphanet:209867/attributed", source="Orphanet:209867/ntbt"} +xref: icd11.foundation:1308905567 {source="MONDO:equivalentTo"} xref: OMIM:609508 {source="Orphanet:209867", source="Orphanet:209867/ntbt", source="MONDO:includedEntryInOMIM"} xref: Orphanet:209867 {source="MONDO:equivalentTo"} xref: UMLS:C1836081 {source="Orphanet:209867", source="MONDO:equivalentTo"} @@ -349566,6 +351882,7 @@ subset: rare synonym: "non-Wilsonian hepatic copper toxicosis of infancy and childhood" EXACT [Orphanet:209919] xref: GARD:17106 {source="Orphanet:209919"} xref: ICD10CM:K74.6 {source="Orphanet:209919", source="Orphanet:209919/ntbt"} +xref: icd11.foundation:1692504835 {source="MONDO:equivalentTo"} xref: icd11.foundation:1692504835 {source="MONDO:equivalentTo", source="Orphanet:209919"} xref: Orphanet:209919 {source="MONDO:equivalentTo"} xref: SCTID:715864007 {source="MONDO:equivalentTo"} @@ -349586,6 +351903,7 @@ synonym: "idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome" EXACT synonym: "idiopathic retinal-aneurysms-neuroretinitis syndrome" RELATED [GARD:0012868] xref: GARD:12868 {source="Orphanet:209943"} xref: ICD10CM:H35.0 {source="Orphanet:209943/attributed", source="Orphanet:209943/ntbt", source="Orphanet:209943"} +xref: icd11.foundation:498393228 {source="MONDO:equivalentTo"} xref: Orphanet:209943 {source="MONDO:equivalentTo"} xref: UMLS:C3665812 {source="MONDO:equivalentTo", source="Orphanet:209943"} is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted"} ! eye disorder @@ -349599,6 +351917,7 @@ subset: ordo_disease {source="Orphanet:209956"} subset: orphanet_rare {source="Orphanet:209956"} subset: rare xref: GARD:20442 {source="Orphanet:209956"} +xref: icd11.foundation:1481963661 {source="MONDO:equivalentTo"} xref: Orphanet:209956 {source="MONDO:equivalentTo"} xref: UMLS:C4755300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017255 {source="Orphanet:209956"} ! panuveitis @@ -349640,6 +351959,7 @@ subset: orphanet_rare {source="Orphanet:209964"} subset: rare xref: GARD:20444 {source="Orphanet:209964"} xref: ICD10CM:K62.6 {source="MONDO:relatedTo", source="Orphanet:209964/ntbt", source="Orphanet:209964"} +xref: icd11.foundation:1677843970 {source="MONDO:equivalentTo"} xref: Orphanet:209964 {source="MONDO:equivalentTo"} xref: SCTID:716685003 {source="MONDO:equivalentTo"} xref: UMLS:C4274343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -349658,6 +351978,7 @@ subset: rare synonym: "benign familial nocturnal alternating hemiplegia in childhood" EXACT [Orphanet:209973] synonym: "benign nocturnal alternating hemiplegia of childhood" RELATED [Orphanet:209973] xref: GARD:20445 {source="Orphanet:209973"} +xref: icd11.foundation:447920235 {source="MONDO:equivalentTo"} xref: Orphanet:209973 {source="MONDO:equivalentTo"} xref: UMLS:C4749822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016210 {source="Orphanet:209973"} ! alternating hemiplegia @@ -349672,6 +351993,7 @@ subset: ordo_group_of_disorders {source="Orphanet:209978"} subset: orphanet_rare {source="Orphanet:209978"} subset: rare xref: GARD:20446 {source="Orphanet:209978"} +xref: icd11.foundation:774373615 {source="MONDO:equivalentTo"} xref: icd11.foundation:774373615 {source="Orphanet:209978", source="MONDO:equivalentTo"} xref: Orphanet:209978 {source="MONDO:equivalentTo"} xref: SCTID:404689008 {source="MONDO:equivalentTo"} @@ -349697,6 +352019,7 @@ xref: ICD10CM:C67.6 {source="Orphanet:209989", source="Orphanet:209989/btnt"} xref: ICD10CM:C67.7 {source="Orphanet:209989", source="Orphanet:209989/btnt"} xref: ICD10CM:C67.8 {source="Orphanet:209989", source="Orphanet:209989/btnt"} xref: ICD10CM:C67.9 {source="Orphanet:209989", source="Orphanet:209989/btnt"} +xref: icd11.foundation:1541108245 {source="MONDO:equivalentTo"} xref: Orphanet:209989 {source="MONDO:equivalentTo"} xref: UMLS:CN200968 {source="MONDO:equivalentTo"} is_a: MONDO:0006474 {source="MONDO:0016211/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! transitional cell carcinoma @@ -349762,6 +352085,7 @@ synonym: "tetraplegic infantile cerebral palsy" EXACT [DOID:10970] xref: DOID:10970 {source="MONDO:equivalentTo"} xref: GARD:17109 {source="Orphanet:210141"} xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:210141/attributed", source="Orphanet:210141/ntbt", source="Orphanet:210141"} +xref: icd11.foundation:1155284708 {source="MONDO:equivalentTo"} xref: ICD9:343.2 {source="DOID:10970"} xref: ICD9:344.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D002547 {source="DOID:10970"} @@ -349945,6 +352269,7 @@ xref: DOID:496 {source="MONDO:equivalentTo"} xref: EFO:0002856 {source="MONDO:equivalentTo"} xref: GARD:20452 {source="Orphanet:210584"} xref: ICD10CM:D18.0 {source="Orphanet:210584/ntbt", source="Orphanet:210584"} +xref: icd11.foundation:1579636498 {source="MONDO:equivalentTo"} xref: ICDO:9136/0 {source="NCIT:C4754"} xref: ICDO:9136/1 {source="NCIT:C4754"} xref: NCIT:C4754 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:496"} @@ -350050,6 +352375,7 @@ xref: EFO:1000638 {source="MONDO:equivalentTo"} xref: GARD:20457 {source="Orphanet:211062"} xref: ICD10CM:G11.8 {source="Orphanet:211062/attributed", source="Orphanet:211062/ntbt", source="Orphanet:211062"} xref: icd11.foundation:423095680 {source="MONDO:equivalentTo", source="Orphanet:211062"} +xref: icd11.foundation:423095680 {source="MONDO:equivalentTo"} xref: MESH:C580065 {source="DOID:963"} xref: OMIMPS:160120 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:211062 {source="DOID:963", source="MONDO:equivalentTo"} @@ -350286,6 +352612,7 @@ xref: GARD:6236 {source="Orphanet:213"} xref: ICD10CM:E72.0 {source="Orphanet:213", source="Orphanet:213/ntbt", source="Orphanet:213/inclusion"} xref: ICD10CM:E72.04 {source="DOID:1064", source="MONDO:equivalentTo"} xref: icd11.foundation:733715856 {source="Orphanet:213", source="MONDO:equivalentTo"} +xref: icd11.foundation:733715856 {source="MONDO:equivalentTo"} xref: MedDRA:10011777 {source="Orphanet:213", source="Orphanet:213/e"} xref: MESH:D003554 {source="DOID:1064", source="Orphanet:213", source="MONDO:equivalentTo", source="Orphanet:213/e"} xref: NCIT:C2976 {source="DOID:1064", source="MONDO:equivalentTo"} @@ -350352,6 +352679,7 @@ synonym: "pediatric alternating hemiplegia" EXACT [MONDO:design_pattern, MONDO:p xref: DOID:0050635 {source="MONDO:equivalentTo"} xref: GARD:11 {source="Orphanet:2131"} xref: ICD10CM:G98 {source="Orphanet:2131/attributed", source="Orphanet:2131/ntbt", source="DOID:0050635", source="Orphanet:2131"} +xref: icd11.foundation:301329822 {source="MONDO:equivalentTo"} xref: MESH:C536589 {source="Orphanet:2131/e", source="MONDO:equivalentTo", source="Orphanet:2131"} xref: NCIT:C35261 {source="MONDO:equivalentTo"} xref: NORD:758 {source="MONDO:NORD"} @@ -350485,6 +352813,7 @@ synonym: "familial ovarian malignant tumour" EXACT OMO:0003005 [] synonym: "hereditary ovarian cancer" EXACT [MONDO:patterns/hereditary] xref: GARD:20467 {source="Orphanet:213517"} xref: ICD10CM:C56 {source="Orphanet:213517", source="Orphanet:213517/attributed", source="Orphanet:213517/ntbt"} +xref: icd11.foundation:1484739866 {source="MONDO:equivalentTo"} xref: Orphanet:213517 {source="MONDO:equivalentTo"} xref: UMLS:C5679802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} intersection_of: MONDO:0008170 ! ovarian cancer @@ -350503,6 +352832,7 @@ subset: orphanet_rare {source="Orphanet:213524"} subset: rare xref: GARD:20468 {source="Orphanet:213524"} xref: ICD10CM:C56 {source="Orphanet:213524/attributed", source="Orphanet:213524/ntbt", source="Orphanet:213524"} +xref: icd11.foundation:123305976 {source="MONDO:equivalentTo"} xref: Orphanet:213524 {source="MONDO:equivalentTo"} xref: UMLS:C4749652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016248 {source="Orphanet:213524"} ! familial ovarian cancer @@ -350886,6 +353216,7 @@ xref: DOID:2048 {source="EFO:0005676", source="MONDO:equivalentTo"} xref: EFO:0005676 {source="MONDO:equivalentTo"} xref: GARD:5871 {source="Orphanet:2137"} xref: ICD10CM:K75.4 {source="DOID:2048", source="Orphanet:2137", source="MONDO:equivalentTo", source="Orphanet:2137/e"} +xref: icd11.foundation:1235727122 {source="MONDO:equivalentTo"} xref: icd11.foundation:1235727122 {source="Orphanet:2137", source="MONDO:equivalentTo"} xref: ICD9:571.42 {source="EFO:0005676", source="DOID:2048", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10003827 {source="Orphanet:2137", source="Orphanet:2137/e"} @@ -351035,6 +353366,7 @@ xref: ICD10CM:C54.1 {source="Orphanet:213741/btnt", source="Orphanet:213741"} xref: ICD10CM:C54.2 {source="Orphanet:213741/btnt", source="Orphanet:213741"} xref: ICD10CM:C54.3 {source="Orphanet:213741/btnt", source="Orphanet:213741"} xref: ICD10CM:C54.8 {source="Orphanet:213741/btnt", source="Orphanet:213741"} +xref: icd11.foundation:350868040 {source="MONDO:equivalentTo"} xref: Orphanet:213741 {source="MONDO:equivalentObsolete"} is_a: MONDO:0004992 {source="Orphanet:213741"} ! cancer intersection_of: MONDO:0004971 ! adenoid cystic carcinoma @@ -351417,6 +353749,7 @@ subset: rare synonym: "Herrmann Opitz craniosynostosis" RELATED [GARD:0002671] xref: GARD:18762 {source="Orphanet:2145"} xref: ICD10CM:Q75.0 {source="Orphanet:2145/attributed", source="Orphanet:2145/ntbt", source="Orphanet:2145"} +xref: icd11.foundation:2048918601 {source="MONDO:equivalentTo"} xref: Orphanet:2145 {source="MONDO:equivalentTo"} xref: UMLS:CN226893 {source="MONDO:equivalentTo"} is_a: MONDO:0015338 {source="Orphanet:2145"} ! syndromic craniosynostosis @@ -351436,6 +353769,7 @@ synonym: "hereditary nodular heterotopia" RELATED [GARD:0002661] synonym: "nodular heterotopia" EXACT [] xref: GARD:16586 {source="Orphanet:2149"} xref: ICD10CM:Q04.8 {source="Orphanet:2149", source="Orphanet:2149/attributed", source="Orphanet:2149/ntbt"} +xref: icd11.foundation:143592859 {source="MONDO:equivalentTo"} xref: Orphanet:2149 {source="MONDO:equivalentTo"} xref: SCTID:253151003 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease @@ -351457,6 +353791,7 @@ xref: DOID:0050534 {source="MONDO:equivalentTo"} xref: GARD:3995 {source="Orphanet:215"} xref: ICD10CM:H53.6 {source="Orphanet:215/attributed", source="Orphanet:215/ntbt", source="Orphanet:215"} xref: ICD10CM:H53.63 {source="DOID:0050534"} +xref: icd11.foundation:587494652 {source="MONDO:equivalentTo"} xref: ICD9:368.61 {source="MONDO:equivalentTo", source="DOID:0050534", source="MONDO:i2s"} xref: MESH:C536122 {source="Orphanet:215", source="MONDO:equivalentTo", source="Orphanet:215/e"} xref: MESH:C537743 {source="DOID:0050534"} @@ -351512,6 +353847,7 @@ synonym: "neuronal ceroid lipofuscinosis" EXACT CLINGEN_LABEL [] xref: DOID:14503 {source="MONDO:equivalentTo"} xref: GARD:10739 {source="Orphanet:216"} xref: ICD10CM:E75.4 {source="DOID:14503", source="Orphanet:216", source="MONDO:equivalentTo", source="Orphanet:216/e", source="Orphanet:216/specific"} +xref: icd11.foundation:1568332253 {source="MONDO:equivalentTo"} xref: MESH:D009472 {source="DOID:14503", source="Orphanet:216", source="Orphanet:216/e"} xref: NCIT:C61257 {source="DOID:14503", source="MONDO:equivalentTo"} xref: OMIMPS:256730 {source="DOID:14503", source="MONDO:equivalentTo"} @@ -351538,6 +353874,7 @@ synonym: "HPE" EXACT ABBREVIATION [Orphanet:2162] xref: DOID:4621 {source="MONDO:equivalentTo"} xref: GARD:6665 {source="Orphanet:2162"} xref: ICD10CM:Q04.2 {source="Orphanet:2162/e", source="Orphanet:2162/specific", source="DOID:4621", source="MONDO:equivalentTo", source="Orphanet:2162"} +xref: icd11.foundation:1712699129 {source="MONDO:equivalentTo"} xref: icd11.foundation:1712699129 {source="MONDO:equivalentTo", source="Orphanet:2162"} xref: MedDRA:10056304 {source="Orphanet:2162/e", source="Orphanet:2162"} xref: MESH:D016142 {source="Orphanet:2162/e", source="DOID:4621", source="MONDO:equivalentTo", source="Orphanet:2162"} @@ -351735,6 +354072,7 @@ subset: orphanet_rare {source="Orphanet:216975"} subset: rare xref: GARD:20505 {source="Orphanet:216975"} xref: ICD10CM:E75.2 {source="Orphanet:216975/attributed", source="Orphanet:216975/ntbt", source="Orphanet:216975"} +xref: icd11.foundation:587642791 {source="MONDO:equivalentTo"} xref: Orphanet:216975 {source="MONDO:equivalentTo"} xref: UMLS:CN201113 {source="MONDO:equivalentTo"} is_a: MONDO:0018982 {source="Orphanet:216975"} ! Niemann-Pick disease type C @@ -351750,6 +354088,7 @@ subset: orphanet_rare {source="Orphanet:216978"} subset: rare xref: GARD:20506 {source="Orphanet:216978"} xref: ICD10CM:E75.2 {source="Orphanet:216978/attributed", source="Orphanet:216978/ntbt", source="Orphanet:216978"} +xref: icd11.foundation:2075382821 {source="MONDO:equivalentTo"} xref: Orphanet:216978 {source="MONDO:equivalentTo"} xref: UMLS:CN201114 {source="MONDO:equivalentTo"} is_a: MONDO:0018982 {source="Orphanet:216978"} ! Niemann-Pick disease type C @@ -351766,6 +354105,7 @@ subset: rare synonym: "Niemann-Pick disease type C, classic form" EXACT [Orphanet:216981] xref: GARD:20507 {source="Orphanet:216981"} xref: ICD10CM:E75.2 {source="Orphanet:216981/attributed", source="Orphanet:216981/ntbt", source="Orphanet:216981"} +xref: icd11.foundation:2006062681 {source="MONDO:equivalentTo"} xref: Orphanet:216981 {source="MONDO:equivalentTo"} xref: UMLS:CN201115 {source="MONDO:equivalentTo"} is_a: MONDO:0018982 {source="Orphanet:216981"} ! Niemann-Pick disease type C @@ -351781,6 +354121,7 @@ subset: orphanet_rare {source="Orphanet:216986"} subset: rare xref: GARD:20508 {source="Orphanet:216986"} xref: ICD10CM:E75.2 {source="Orphanet:216986/attributed", source="Orphanet:216986/ntbt", source="Orphanet:216986"} +xref: icd11.foundation:77127214 {source="MONDO:equivalentTo"} xref: Orphanet:216986 {source="MONDO:equivalentTo"} xref: UMLS:CN201116 {source="MONDO:equivalentTo"} is_a: MONDO:0018982 {source="Orphanet:216986"} ! Niemann-Pick disease type C @@ -351797,6 +354138,7 @@ subset: rare synonym: "genuine diffuse phlebectasia" EXACT [Orphanet:217008] xref: GARD:13063 {source="Orphanet:217008"} xref: ICD10CM:Q27.4 {source="Orphanet:217008/ntbt", source="Orphanet:217008"} +xref: icd11.foundation:1659229633 {source="MONDO:equivalentTo"} xref: Orphanet:217008 {source="MONDO:equivalentTo"} xref: UMLS:CN201119 {source="MONDO:equivalentTo"} is_a: MONDO:0019293 {source="Orphanet:217008"} ! skin vascular disease @@ -351917,6 +354259,7 @@ xref: DOID:643 {source="EFO:0007455", source="MONDO:equivalentTo"} xref: EFO:0007455 {source="MONDO:equivalentTo"} xref: GARD:7468 {source="Orphanet:217260"} xref: ICD10CM:A81.2 {source="DOID:643", source="MONDO:equivalentTo", source="Orphanet:217260", source="Orphanet:217260/e"} +xref: icd11.foundation:902939755 {source="MONDO:equivalentTo"} xref: icd11.foundation:902939755 {source="MONDO:equivalentTo", source="Orphanet:217260"} xref: ICD9:046.3 {source="DOID:643", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10036807 {source="Orphanet:217260", source="Orphanet:217260/e"} @@ -351975,6 +354318,7 @@ synonym: "pig" EXACT [Orphanet:217557] xref: GARD:20516 {source="Orphanet:217557"} xref: ICD10CM:J84.842 {source="MONDO:equivalentTo"} xref: ICD10CM:P22.8 {source="Orphanet:217557", source="Orphanet:217557/ntbt"} +xref: icd11.foundation:1386580655 {source="MONDO:equivalentTo"} xref: Orphanet:217557 {source="MONDO:equivalentTo"} xref: SCTID:707551007 {source="MONDO:equivalentTo"} xref: UMLS:C3161106 {source="MONDO:equivalentTo"} @@ -351996,6 +354340,7 @@ synonym: "NEHI" EXACT ABBREVIATION [Orphanet:217560] xref: GARD:20517 {source="Orphanet:217560"} xref: ICD10CM:J84.841 {source="MONDO:equivalentTo"} xref: icd11.foundation:1641999159 {source="MONDO:equivalentTo", source="Orphanet:217560"} +xref: icd11.foundation:1641999159 {source="MONDO:equivalentTo"} xref: NCIT:C120169 {source="MONDO:equivalentTo"} xref: Orphanet:217560 {source="MONDO:equivalentTo"} xref: SCTID:707435002 {source="MONDO:equivalentTo"} @@ -352116,6 +354461,7 @@ subset: orphanet_rare {source="Orphanet:2176"} subset: rare xref: GARD:6807 {source="Orphanet:2176"} xref: ICD10CM:E78.8 {source="Orphanet:2176", source="Orphanet:2176/attributed", source="Orphanet:2176/ntbt"} +xref: icd11.foundation:2089325724 {source="MONDO:equivalentTo"} xref: OMIM:236490 {source="Orphanet:2176", source="MONDO:equivalentObsolete", source="Orphanet:2176/w"} xref: Orphanet:2176 {source="MONDO:equivalentTo"} xref: SCTID:238867003 {source="MONDO:equivalentTo"} @@ -352130,6 +354476,7 @@ subset: ordo_disease {source="Orphanet:217601"} subset: orphanet_rare {source="Orphanet:217601"} subset: rare xref: ICD10CM:I42.2 {source="Orphanet:217601", source="Orphanet:217601/ntbt"} +xref: icd11.foundation:183927358 {source="MONDO:equivalentTo"} xref: Orphanet:217601 {source="MONDO:equivalentObsolete"} is_a: MONDO:0016330 {source="Orphanet:217601"} ! non-familial hypertrophic cardiomyopathy @@ -352296,6 +354643,7 @@ synonym: "familial isolated ARVC" EXACT [Orphanet:217656] synonym: "familial isolated ARVD" EXACT [Orphanet:217656] xref: GARD:17129 {source="Orphanet:217656"} xref: ICD10CM:I42.8 {source="Orphanet:217656", source="Orphanet:217656/attributed", source="Orphanet:217656/ntbt"} +xref: icd11.foundation:460188584 {source="MONDO:equivalentTo"} xref: OMIMPS:107970 {source="DOID:0050431", source="MONDO:equivalentTo"} xref: Orphanet:217656 {source="MONDO:equivalentTo"} xref: SCTID:715865008 {source="MONDO:equivalentTo"} @@ -352334,6 +354682,7 @@ xref: DOID:4626 {source="MONDO:equivalentTo"} xref: GARD:6681 {source="Orphanet:2177"} xref: HP:0002324 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q04.3 {source="Orphanet:2177", source="Orphanet:2177/ntbt", source="DOID:4626", source="Orphanet:2177/inclusion"} +xref: icd11.foundation:1963574608 {source="MONDO:equivalentTo"} xref: icd11.foundation:1963574608 {source="Orphanet:2177", source="MONDO:equivalentTo"} xref: MESH:D006832 {source="Orphanet:2177", source="MONDO:equivalentTo", source="Orphanet:2177/e", source="DOID:4626"} xref: NCIT:C98949 {source="MONDO:equivalentTo", source="DOID:4626"} @@ -352424,6 +354773,7 @@ xref: ICD10CM:Q03.1 {source="Orphanet:2185/specific", source="Orphanet:2185/btnt xref: ICD10CM:Q03.8 {source="Orphanet:2185/specific", source="Orphanet:2185/btnt", source="Orphanet:2185"} xref: ICD10CM:Q03.9 {source="Orphanet:2185/specific", source="Orphanet:2185/btnt", source="Orphanet:2185"} xref: icd11.foundation:1878746673 {source="MONDO:equivalentTo", source="Orphanet:2185"} +xref: icd11.foundation:1878746673 {source="MONDO:equivalentTo"} xref: MedDRA:10010506 {source="Orphanet:2185/e", source="Orphanet:2185"} xref: NCIT:C98876 {source="MONDO:equivalentTo"} xref: OMIMPS:236600 {source="MONDO:equivalentTo"} @@ -352530,6 +354880,7 @@ synonym: "XP/CS complex" EXACT [Orphanet:220295] xref: GARD:17130 {source="Orphanet:220295"} xref: ICD10CM:Q82.1 {source="Orphanet:220295", source="Orphanet:220295/nd", source="Orphanet:220295/attributed", source="MONDO:directSiblingOf"} xref: ICD10CM:Q87.1 {source="Orphanet:220295", source="Orphanet:220295/nd", source="Orphanet:220295/attributed"} +xref: icd11.foundation:2002862606 {source="MONDO:equivalentTo"} xref: NCIT:C156031 {source="MONDO:equivalentTo"} xref: Orphanet:220295 {source="MONDO:equivalentTo"} xref: UMLS:C4304411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -352597,6 +354948,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2204"} subset: orphanet_rare {source="Orphanet:646139"} subset: rare xref: ICD10CM:M89.8 {source="Orphanet:2204", source="Orphanet:2204/attributed", source="Orphanet:2204/ntbt"} +xref: icd11.foundation:607086753 {source="MONDO:equivalentTo"} xref: Orphanet:646139 {source="MONDO:equivalentTo"} xref: UMLS:C5190839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018230 {source="Orphanet:2204"} ! skeletal dysplasia @@ -352648,6 +355000,7 @@ synonym: "systemic sclerosis without skin involvement" EXACT [NCIT:C116789] xref: GARD:9749 {source="Orphanet:220407"} xref: ICD10CM:M34.0 {source="Orphanet:220407/ntbt", source="Orphanet:220407"} xref: icd11.foundation:187455179 {source="MONDO:equivalentTo", source="Orphanet:220407"} +xref: icd11.foundation:187455179 {source="MONDO:equivalentTo"} xref: NCIT:C116789 {source="MONDO:equivalentTo"} xref: Orphanet:220407 {source="MONDO:equivalentTo"} xref: SCTID:128461001 {source="MONDO:equivalentTo"} @@ -352707,6 +355060,7 @@ synonym: "HFAS" EXACT ABBREVIATION [NCIT:C6729] synonym: "mild form of FAP" RELATED [GARD:0008532] xref: GARD:8532 {source="Orphanet:220460"} xref: ICD10CM:D12.6 {source="Orphanet:220460", source="Orphanet:220460/attributed", source="Orphanet:220460/ntbt"} +xref: icd11.foundation:1023083906 {source="MONDO:equivalentTo"} xref: MESH:C538265 {source="Orphanet:220460", source="MONDO:equivalentTo", source="Orphanet:220460/e"} xref: NCIT:C6729 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:220460 {source="MONDO:equivalentTo"} @@ -352755,6 +355109,7 @@ synonym: "JS-O" EXACT [Orphanet:220493] xref: GARD:10168 {source="Orphanet:220493"} xref: ICD10CM:H35.5 {source="Orphanet:220493", source="MONDO:relatedTo", source="Orphanet:220493/attributed", source="Orphanet:220493/ntbt"} xref: ICD10CM:Q04.3 {source="Orphanet:220493", source="Orphanet:220493/attributed", source="Orphanet:220493/ntbt"} +xref: icd11.foundation:1358617785 {source="MONDO:equivalentTo"} xref: Orphanet:220493 {source="MONDO:equivalentTo"} xref: SCTID:716998009 {source="MONDO:equivalentTo"} xref: UMLS:C1837713 {source="GARD:0010168"} @@ -352785,6 +355140,7 @@ subset: rare synonym: "hereditary primary hyperparathyroidism (disease)" EXACT [MONDO:patterns/hereditary] xref: GARD:2837 {source="Orphanet:2207"} xref: ICD10CM:E21.0 {source="Orphanet:2207", source="Orphanet:2207/attributed", source="Orphanet:2207/ntbt"} +xref: icd11.foundation:1186866066 {source="MONDO:equivalentTo"} xref: Orphanet:2207 {source="MONDO:equivalentTo"} is_a: MONDO:0016166 {source="MONDO:Redundant", source="Orphanet:2207"} ! hereditary hyperparathyroidism is_a: MONDO:0021360 {source="MONDO:Entailed", source="Orphanet:2207"} ! tumor of parathyroid gland @@ -352838,6 +355194,7 @@ xref: ICD10CM:M33.0 {source="Orphanet:221/ntbt", source="Orphanet:221"} xref: ICD10CM:M33.1 {source="Orphanet:221/ntbt", source="Orphanet:221"} xref: ICD10CM:M33.9 {source="DOID:10223"} xref: ICD10CM:M33.90 {source="DOID:10223"} +xref: icd11.foundation:739030149 {source="MONDO:equivalentTo"} xref: ICD9:710.3 {source="EFO:0000398", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10223"} xref: MedDRA:10012503 {source="Orphanet:221/e", source="Orphanet:221"} xref: MESH:D003882 {source="Orphanet:221/e", source="EFO:0000398", source="MONDO:equivalentTo", source="Orphanet:221", source="DOID:10223"} @@ -352879,6 +355236,7 @@ synonym: "ROTHMUND-THOMSON SYNDROME, TYPE 1" RELATED [OMIM:618625] synonym: "RTS1" EXACT ABBREVIATION [Orphanet:221008] xref: GARD:17134 {source="Orphanet:221008"} xref: ICD10CM:Q82.8 {source="Orphanet:221008", source="Orphanet:221008/attributed", source="Orphanet:221008/ntbt"} +xref: icd11.foundation:717855330 {source="MONDO:equivalentTo"} xref: NCIT:C178826 {source="MONDO:equivalentTo"} xref: OMIM:618625 {source="MONDO:equivalentTo"} xref: Orphanet:221008 {source="OMIM:618625", source="MONDO:equivalentTo"} @@ -352899,6 +355257,7 @@ synonym: "Rothmund-Thomson syndrome, type 2" EXACT [OMIM:268400, OMIM:genemap2] synonym: "RTS2" EXACT ABBREVIATION [Orphanet:221016] xref: GARD:17135 {source="Orphanet:221016"} xref: ICD10CM:Q82.8 {source="Orphanet:221016", source="Orphanet:221016/attributed", source="Orphanet:221016/ntbt"} +xref: icd11.foundation:2111040755 {source="MONDO:equivalentTo"} xref: NCIT:C178827 {source="MONDO:equivalentTo"} xref: OMIM:268400 {source="Orphanet:2909", source="DOID:2732", source="MONDO:equivalentTo", source="Orphanet:2909/e"} xref: Orphanet:221016 {source="MONDO:equivalentTo"} @@ -352945,6 +355304,7 @@ subset: ordo_disease {source="Orphanet:221078"} subset: orphanet_rare {source="Orphanet:221078"} subset: rare xref: GARD:20541 {source="Orphanet:221078"} +xref: icd11.foundation:457686735 {source="MONDO:equivalentTo"} xref: Orphanet:221078 {source="MONDO:equivalentTo"} xref: UMLS:CN201241 {source="MONDO:equivalentTo"} is_a: MONDO:0016374 {source="Orphanet:221078"} ! cranial neuralgia @@ -353071,6 +355431,7 @@ subset: rare synonym: "hyperthermia induced defects" RELATED [GARD:0002856] xref: GARD:2856 {source="Orphanet:2216"} xref: ICD10CM:Q86.8 {source="Orphanet:2216", source="Orphanet:2216/ntbt"} +xref: icd11.foundation:1917022285 {source="MONDO:equivalentTo"} xref: Orphanet:2216 {source="MONDO:equivalentTo", source="GARD:0002856"} xref: SCTID:765138001 {source="MONDO:equivalentTo"} is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis @@ -353106,6 +355467,7 @@ subset: rare synonym: "hypertrichosis lanuginosa, acquired" RELATED [GARD:0002864] xref: GARD:2864 {source="Orphanet:2221"} xref: ICD10CM:L68.1 {source="Orphanet:2221", source="MONDO:equivalentTo", source="Orphanet:2221/e"} +xref: icd11.foundation:1885858920 {source="MONDO:equivalentTo"} xref: Orphanet:2221 {source="MONDO:equivalentTo"} xref: SCTID:25967007 {source="MONDO:equivalentTo"} xref: UMLS:C0343072 {source="GARD:0002864", source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MONDO:notFoundInDiseaseSubset"} @@ -353127,6 +355489,7 @@ synonym: "hypertrichosis lanuginosa universalis" RELATED [GARD:0002865] synonym: "hypertrichosis universalis" EXACT [OMIM:145700, Orphanet:2222] xref: GARD:2865 {source="Orphanet:2222"} xref: ICD10CM:Q84.2 {source="Orphanet:2222/attributed", source="Orphanet:2222/ntbt", source="Orphanet:2222"} +xref: icd11.foundation:199539869 {source="MONDO:equivalentTo"} xref: MESH:C538389 {source="Orphanet:2222", source="MONDO:equivalentTo", source="Orphanet:2222/e"} xref: OMIM:145700 {source="Orphanet:2222/btnt", source="Orphanet:2222", source="MONDO:equivalentTo"} xref: Orphanet:2222 {source="MONDO:equivalentTo", source="OMIM:145700"} @@ -353167,6 +355530,7 @@ synonym: "vasopressin-resistant diabetes insipidus" RELATED [DOID:12387] xref: DOID:12387 {source="MONDO:equivalentTo"} xref: GARD:7178 {source="Orphanet:223"} xref: ICD10CM:N25.1 {source="Orphanet:223/specific", source="Orphanet:223/e", source="MONDO:equivalentTo", source="DOID:12387", source="Orphanet:223"} +xref: icd11.foundation:1417669099 {source="MONDO:equivalentTo"} xref: icd11.foundation:1417669099 {source="MONDO:equivalentTo", source="Orphanet:223"} xref: ICD9:588.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12387"} xref: MedDRA:10029147 {source="Orphanet:223/e", source="Orphanet:223"} @@ -353287,6 +355651,7 @@ synonym: "hypoparathyroidism, familial isolated" EXACT [MONDO:Lexical, OMIM:1462 xref: DOID:0111387 {source="MONDO:equivalentTo"} xref: GARD:2910 {source="Orphanet:2238"} xref: ICD10CM:E20.8 {source="Orphanet:2238", source="Orphanet:2238/attributed", source="Orphanet:2238/ntbt"} +xref: icd11.foundation:1907423603 {source="MONDO:equivalentTo"} xref: MESH:C537156 {source="MONDO:equivalentTo", source="Orphanet:2238", source="Orphanet:2238/e"} xref: NORD:1128 {source="MONDO:NORD"} xref: OMIMPS:146200 {source="MONDO:equivalentTo"} @@ -353315,6 +355680,7 @@ synonym: "NDM" EXACT ABBREVIATION [Orphanet:224] xref: DOID:11717 {source="MONDO:equivalentTo"} xref: GARD:18682 {source="Orphanet:224"} xref: ICD10CM:P70.2 {source="Orphanet:224", source="MONDO:equivalentTo", source="Orphanet:224/e", source="DOID:11717", source="Orphanet:224/specific"} +xref: icd11.foundation:1217915084 {source="MONDO:equivalentTo"} xref: icd11.foundation:1217915084 {source="Orphanet:224", source="MONDO:equivalentTo"} xref: ICD9:775.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11717"} xref: MedDRA:10028933 {source="Orphanet:224", source="Orphanet:224/e"} @@ -353377,6 +355743,7 @@ synonym: "sporadic infantile striatonigral degeneration" EXACT [Orphanet:225147] synonym: "sporadic infantile striatonigral necrosis" EXACT [Orphanet:225147] xref: GARD:20549 {source="Orphanet:225147"} xref: ICD10CM:G23.2 {source="Orphanet:225147", source="MONDO:relatedTo", source="Orphanet:225147/attributed", source="Orphanet:225147/ntbt"} +xref: icd11.foundation:1174703901 {source="MONDO:equivalentTo"} xref: Orphanet:225147 {source="MONDO:equivalentTo"} is_a: MONDO:0015518 {source="Orphanet:225147"} ! infantile bilateral striatal necrosis @@ -353412,6 +355779,7 @@ synonym: "PCH1" EXACT ABBREVIATION [Orphanet:2254] xref: DOID:0112322 {source="MONDO:equivalentTo"} xref: GARD:10704 {source="Orphanet:2254"} xref: ICD10CM:Q04.3 {source="Orphanet:2254", source="Orphanet:2254/attributed", source="Orphanet:2254/ntbt"} +xref: icd11.foundation:1227773923 {source="MONDO:equivalentTo"} xref: MESH:C548069 {source="Orphanet:2254", source="MONDO:equivalentTo", source="Orphanet:2254/e"} xref: Orphanet:2254 {source="MONDO:equivalentTo"} xref: SCTID:718610008 {source="MONDO:equivalentTo"} @@ -353570,6 +355938,7 @@ synonym: "Oligomeganephronic renal hypoplasia" EXACT [DOID:0111142, Orphanet:226 xref: DOID:0111142 {source="MONDO:equivalentTo"} xref: GARD:4066 {source="Orphanet:2260"} xref: ICD10CM:Q60.4 {source="MONDO:relatedTo", source="DOID:0111142", source="Orphanet:2260/ntbt", source="Orphanet:2260"} +xref: icd11.foundation:1283447040 {source="MONDO:equivalentTo"} xref: icd11.foundation:1283447040 {source="MONDO:equivalentTo", source="Orphanet:2260"} xref: NCIT:C123202 {source="MONDO:equivalentTo"} xref: Orphanet:2260 {source="MONDO:equivalentTo", source="DOID:0111142"} @@ -353590,6 +355959,7 @@ subset: rare xref: GARD:20560 {source="Orphanet:226292"} xref: ICD10CM:E03.0 {source="Orphanet:226292", source="Orphanet:226292/specific", source="Orphanet:226292/btnt"} xref: ICD10CM:E03.1 {source="Orphanet:226292", source="Orphanet:226292/specific", source="Orphanet:226292/btnt"} +xref: icd11.foundation:801729371 {source="MONDO:equivalentTo"} xref: Orphanet:226292 {source="MONDO:equivalentTo"} is_a: MONDO:0015514 {source="Orphanet:226292"} ! hereditary endocrine growth disease is_a: MONDO:0018612 {source="Orphanet:226292"} ! congenital hypothyroidism @@ -353652,6 +356022,7 @@ subset: orphanet_rare {source="Orphanet:226307"} subset: rare xref: GARD:20562 {source="Orphanet:226307"} xref: ICD10CM:E03.1 {source="Orphanet:226307", source="Orphanet:226307/attributed", source="Orphanet:226307/ntbt"} +xref: icd11.foundation:510589461 {source="MONDO:equivalentTo"} xref: Orphanet:226307 {source="MONDO:equivalentTo"} xref: UMLS:CN201345 {source="MONDO:equivalentTo"} is_a: MONDO:0016410 {source="Orphanet:226307"} ! central congenital hypothyroidism @@ -353716,6 +356087,7 @@ subset: rare synonym: "Diphallus" RELATED [GARD:0001872] xref: GARD:1872 {source="Orphanet:227"} xref: ICD10CM:Q55.6 {source="Orphanet:227", source="Orphanet:227/ntbt"} +xref: icd11.foundation:1465839134 {source="MONDO:equivalentTo"} xref: icd11.foundation:1465839134 {source="Orphanet:227", source="MONDO:equivalentTo"} xref: ICD9:752.69 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:227 {source="MONDO:equivalentTo"} @@ -353758,6 +356130,7 @@ synonym: "sporadic olivopontocerebellar atrophy type 1" EXACT [Orphanet:227510] synonym: "sporadic OPCA type 1" EXACT [Orphanet:227510] xref: GARD:20565 {source="Orphanet:227510"} xref: ICD10CM:G90.3 {source="Orphanet:227510/ntbt", source="Orphanet:227510"} +xref: icd11.foundation:1585600114 {source="MONDO:equivalentTo"} xref: icd11.foundation:1585600114 {source="MONDO:equivalentTo", source="Orphanet:227510"} xref: Orphanet:227510 {source="MONDO:equivalentTo"} xref: UMLS:CN201371 {source="MONDO:equivalentTo"} @@ -353821,6 +356194,7 @@ subset: orphanet_rare {source="Orphanet:227786"} subset: rare synonym: "hereditary flecked retinopathy" EXACT [Orphanet:227786] xref: ICD10CM:H35.5 {source="Orphanet:227786", source="MONDO:relatedTo", source="Orphanet:227786/attributed", source="Orphanet:227786/ntbt"} +xref: icd11.foundation:979898273 {source="MONDO:equivalentTo"} xref: Orphanet:227786 {source="MONDO:equivalentObsolete"} xref: UMLS:CN226924 {source="MONDO:equivalentTo"} is_a: MONDO:0020242 {source="Orphanet:227786"} ! hereditary macular dystrophy @@ -353859,6 +356233,7 @@ synonym: "PAS3" RELATED ABBREVIATION [GARD:0010980] synonym: "polyglandular autoimmune syndrome type 3" RELATED [GARD:0010980] xref: GARD:10980 {source="Orphanet:227982"} xref: ICD10CM:E31.0 {source="Orphanet:227982/ntbt", source="Orphanet:227982"} +xref: icd11.foundation:1361747293 {source="MONDO:equivalentTo"} xref: ICD9:258.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:227982 {source="MONDO:equivalentTo"} xref: SCTID:449731009 {source="MONDO:equivalentTo"} @@ -353881,6 +356256,7 @@ synonym: "autoimmune polyendocrine syndrome type 4" EXACT [Orphanet:227990] synonym: "autoimmune polyglandular syndrome type 4" EXACT [Orphanet:227990] xref: GARD:20567 {source="Orphanet:227990"} xref: ICD10CM:E31.0 {source="Orphanet:227990", source="Orphanet:227990/ntbt"} +xref: icd11.foundation:1561026337 {source="MONDO:equivalentTo"} xref: ICD9:258.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:227990 {source="MONDO:equivalentTo"} xref: SCTID:449730005 {source="MONDO:equivalentTo"} @@ -353917,6 +356293,7 @@ subset: orphanet_rare {source="Orphanet:228116"} subset: rare xref: GARD:20569 {source="Orphanet:228116"} xref: ICD10CM:I28.8 {source="Orphanet:228116", source="Orphanet:228116/ntbt"} +xref: icd11.foundation:1047123748 {source="MONDO:equivalentTo"} xref: Orphanet:228116 {source="MONDO:equivalentTo"} xref: SCTID:721226005 {source="MONDO:equivalentTo"} xref: UMLS:C4303478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -353980,6 +356357,7 @@ subset: rare synonym: "acute multiple sclerosis, Marburg type" EXACT [Orphanet:228157] synonym: "acute multiple sclerosis, Marburg variant" EXACT [Orphanet:228157] xref: GARD:20572 {source="Orphanet:228157"} +xref: icd11.foundation:113448281 {source="MONDO:equivalentTo"} xref: Orphanet:228157 {source="MONDO:equivalentTo"} xref: SCTID:766246000 {source="MONDO:equivalentTo"} is_a: MONDO:0005301 {source="https://orcid.org/0000-0002-4142-7153"} ! multiple sclerosis @@ -354045,6 +356423,7 @@ subset: rare synonym: "CMT2M" EXACT ABBREVIATION [Orphanet:228179] xref: GARD:17147 {source="Orphanet:228179"} xref: ICD10CM:G60.0 {source="Orphanet:228179/attributed", source="Orphanet:228179/ntbt", source="Orphanet:228179"} +xref: icd11.foundation:1601555981 {source="MONDO:equivalentTo"} xref: Orphanet:228179 {source="MONDO:equivalentTo"} xref: SCTID:719514002 {source="MONDO:equivalentTo"} xref: UMLS:C1847902 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:228179"} @@ -354182,6 +356561,7 @@ subset: ordo_disease {source="Orphanet:228240"} subset: orphanet_rare {source="Orphanet:228240"} subset: rare xref: GARD:12716 {source="Orphanet:228240"} +xref: icd11.foundation:1880397739 {source="MONDO:equivalentTo"} xref: ICD9:701.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:228240 {source="MONDO:equivalentTo"} xref: SCTID:238832003 {source="MONDO:equivalentTo"} @@ -354224,6 +356604,7 @@ synonym: "acquired PXE" EXACT [Orphanet:228247] synonym: "localised acquired cutaneous pseudoxanthoma elasticum" EXACT OMO:0003005 [] synonym: "localized acquired cutaneous pseudoxanthoma elasticum" EXACT [PMID:528701] xref: GARD:20581 {source="Orphanet:228247"} +xref: icd11.foundation:2017339816 {source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:228247 {source="MONDO:equivalentTo"} xref: SCTID:403401007 {source="MONDO:equivalentTo"} @@ -354243,6 +356624,7 @@ synonym: "juvenile elastoma without osteopoikilosis" EXACT [Orphanet:228254] synonym: "Nevus elasticus" EXACT [Orphanet:228254] synonym: "Weidman juvenile elastoma" EXACT [Orphanet:228254] xref: GARD:20582 {source="Orphanet:228254"} +xref: icd11.foundation:1464650282 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:228254 {source="MONDO:equivalentTo"} xref: SCTID:239140003 {source="MONDO:equivalentTo"} @@ -354264,6 +356646,7 @@ synonym: "disseminated nevus anelasticus" EXACT [Orphanet:228264] synonym: "eruptive collagenoma" EXACT [Orphanet:228264] synonym: "Nevus anelasticus" EXACT [Orphanet:228264] xref: GARD:20583 {source="Orphanet:228264"} +xref: icd11.foundation:1231672259 {source="MONDO:equivalentTo"} xref: NCIT:C4707 {source="MONDO:equivalentTo"} xref: Orphanet:228264 {source="MONDO:equivalentTo"} xref: SCTID:239138008 {source="MONDO:equivalentTo"} @@ -354284,6 +356667,7 @@ synonym: "primary macular atrophy" EXACT [Orphanet:228272] xref: GARD:20584 {source="Orphanet:228272"} xref: ICD10CM:L90.1 {source="Orphanet:228272", source="Orphanet:228272/btnt"} xref: ICD10CM:L90.2 {source="Orphanet:228272", source="Orphanet:228272/btnt"} +xref: icd11.foundation:308286033 {source="MONDO:equivalentTo"} xref: MESH:D057088 {source="MONDO:equivalentTo"} xref: Orphanet:228272 {source="MONDO:equivalentTo"} xref: SCTID:238829001 {source="MONDO:equivalentTo"} @@ -354324,6 +356708,7 @@ subset: rare synonym: "acquired cutis laxa" EXACT [MONDO:patterns/acquired] synonym: "cutis laxa acquisita" EXACT [Orphanet:228285] xref: GARD:20586 {source="Orphanet:228285"} +xref: icd11.foundation:807277512 {source="MONDO:equivalentTo"} xref: Orphanet:228285 {source="MONDO:equivalentTo"} xref: SCTID:19726003 {source="MONDO:equivalentTo"} xref: UMLS:C0406549 {source="MONDO:equivalentTo", source="Orphanet:228285", source="Orphanet:228285/e"} @@ -354341,6 +356726,7 @@ subset: ordo_disease {source="Orphanet:228290"} subset: orphanet_rare {source="Orphanet:228290"} subset: rare xref: GARD:20587 {source="Orphanet:228290"} +xref: icd11.foundation:1989852752 {source="MONDO:equivalentTo"} xref: Orphanet:228290 {source="MONDO:equivalentTo"} xref: UMLS:CN226935 {source="MONDO:equivalentTo"} is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder @@ -354359,6 +356745,7 @@ subset: rare synonym: "PXE-like papillary dermal elastolysis" EXACT [Orphanet:228293] synonym: "PXE-PDE" EXACT [] xref: GARD:20588 {source="Orphanet:228293"} +xref: icd11.foundation:704601885 {source="MONDO:equivalentTo"} xref: Orphanet:228293 {source="MONDO:equivalentTo"} xref: SCTID:764105002 {source="MONDO:equivalentTo"} is_a: MONDO:0005093 {source="Orphanet:228293"} ! skin disorder @@ -354373,6 +356760,7 @@ subset: ordo_disease {source="Orphanet:228299"} subset: orphanet_rare {source="Orphanet:228299"} subset: rare xref: GARD:20589 {source="Orphanet:228299"} +xref: icd11.foundation:1379952112 {source="MONDO:equivalentTo"} xref: Orphanet:228299 {source="MONDO:equivalentTo"} is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder is_a: MONDO:0021154 {source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder @@ -354476,6 +356864,7 @@ synonym: "severe early-onset axonal neuropathy due to light neurofilament subuni synonym: "severe early-onset axonal neuropathy due to NEFL deficiency" EXACT [] xref: GARD:17153 {source="Orphanet:228374"} xref: ICD10CM:G60.0 {source="Orphanet:228374/attributed", source="Orphanet:228374/ntbt", source="Orphanet:228374"} +xref: icd11.foundation:1603286685 {source="MONDO:equivalentTo"} xref: Orphanet:228374 {source="MONDO:equivalentTo"} is_a: MONDO:0018993 {source="https://orcid.org/0000-0001-5208-3432"} ! Charcot-Marie-Tooth disease type 2 @@ -354687,6 +357076,7 @@ subset: rare synonym: "insulin-resistance type B" RELATED [GARD:0003009] xref: GARD:3009 {source="Orphanet:2298"} xref: ICD10CM:E13 {source="Orphanet:2298", source="Orphanet:2298/attributed", source="Orphanet:2298/ntbt"} +xref: icd11.foundation:408487090 {source="MONDO:equivalentTo"} xref: Orphanet:2298 {source="GARD:0003009", source="MONDO:equivalentTo"} xref: UMLS:C0342337 {source="Orphanet:2298", source="GARD:0003009", source="MONDO:equivalentTo", source="Orphanet:2298/e"} is_a: MONDO:0001933 {source="https://orcid.org/0000-0001-5208-3432"} ! endocrine pancreas disorder @@ -354787,6 +357177,7 @@ subset: rare synonym: "toxin-mediated infective botulism" EXACT [Orphanet:230800] xref: GARD:20597 {source="Orphanet:230800"} xref: ICD10CM:A05.1 {source="Orphanet:230800", source="Orphanet:230800/ntbt"} +xref: icd11.foundation:1373611689 {source="MONDO:equivalentTo"} xref: Orphanet:230800 {source="MONDO:equivalentTo"} is_a: MONDO:0005498 {source="Orphanet:230800"} ! botulism @@ -354799,6 +357190,7 @@ subset: orphanet_rare {source="Orphanet:230845"} subset: rare synonym: "EDS, vascular-like type" EXACT [Orphanet:230845] xref: ICD10CM:Q79.6 {source="Orphanet:230845/attributed", source="Orphanet:230845/ntbt", source="Orphanet:230845"} +xref: icd11.foundation:240424885 {source="MONDO:equivalentTo"} xref: Orphanet:230845 {source="MONDO:equivalentObsolete"} xref: SCTID:720862007 {source="MONDO:equivalentTo"} is_a: MONDO:0005385 {source="MONDO:Redundant", source="Orphanet:230845"} ! vascular disorder @@ -354846,6 +357238,7 @@ synonym: "PC" EXACT ABBREVIATION [Orphanet:2309] xref: DOID:0050449 {source="MONDO:equivalentTo"} xref: GARD:10753 {source="Orphanet:2309"} xref: ICD10CM:Q84.5 {source="Orphanet:2309/attributed", source="Orphanet:2309/ntbt", source="Orphanet:2309"} +xref: icd11.foundation:1446983705 {source="MONDO:equivalentTo"} xref: MESH:D053549 {source="Orphanet:2309/e", source="MONDO:equivalentTo", source="DOID:0050449", source="Orphanet:2309"} xref: NCIT:C84986 {source="MONDO:equivalentTo", source="DOID:0050449"} xref: NORD:1542 {source="MONDO:NORD"} @@ -354885,6 +357278,7 @@ xref: DOID:14418 {source="MONDO:equivalentTo", source="EFO:0007241"} xref: EFO:0007241 {source="MONDO:equivalentTo"} xref: GARD:6286 {source="Orphanet:231"} xref: ICD10CM:B72 {source="DOID:14418", source="Orphanet:231/e", source="MONDO:equivalentTo", source="Orphanet:231"} +xref: icd11.foundation:1662537619 {source="MONDO:equivalentTo"} xref: icd11.foundation:1662537619 {source="MONDO:equivalentTo", source="Orphanet:231"} xref: ICD9:125.7 {source="DOID:14418", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10013618 {source="Orphanet:231/e", source="Orphanet:231"} @@ -354952,6 +357346,7 @@ xref: DOID:0040093 {source="MONDO:equivalentTo"} xref: GARD:20599 {source="Orphanet:231111"} xref: ICD10CM:M32.0 {source="Orphanet:231111", source="DOID:0040093", source="Orphanet:231111/e"} xref: icd11.foundation:1239818910 {source="Orphanet:231111", source="MONDO:equivalentTo"} +xref: icd11.foundation:1239818910 {source="MONDO:equivalentTo"} xref: MedDRA:10013706 {source="Orphanet:231111", source="Orphanet:231111/e"} xref: NCIT:C114354 {source="MONDO:equivalentTo"} xref: Orphanet:231111 {source="MONDO:equivalentTo"} @@ -355139,6 +357534,7 @@ synonym: "Usher syndrome type 2" EXACT CLINGEN_LABEL [] xref: DOID:0110827 {source="MONDO:equivalentTo"} xref: GARD:5440 {source="Orphanet:231178"} xref: ICD10CM:H35.5 {source="Orphanet:231178/attributed", source="Orphanet:231178/ntbt", source="MONDO:relatedTo", source="Orphanet:231178", source="DOID:0110827"} +xref: icd11.foundation:33632175 {source="MONDO:equivalentTo"} xref: NCIT:C126328 {source="MONDO:equivalentTo"} xref: Orphanet:231178 {source="MONDO:equivalentTo", source="DOID:0110827"} xref: SCTID:232058008 {source="MONDO:equivalentTo"} @@ -355161,6 +357557,7 @@ synonym: "Usher syndrome type 3" EXACT CLINGEN_LABEL [] xref: DOID:0110828 {source="MONDO:equivalentTo"} xref: GARD:5442 {source="Orphanet:231183"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:231183/attributed", source="Orphanet:231183/ntbt", source="DOID:0110828", source="Orphanet:231183"} +xref: icd11.foundation:1734357568 {source="MONDO:equivalentTo"} xref: NCIT:C126329 {source="MONDO:equivalentTo"} xref: Orphanet:231183 {source="MONDO:equivalentTo", source="DOID:0110828"} xref: UMLS:C1568248 {source="Orphanet:231183/e", source="MONDO:equivalentTo", source="DOID:0110828", source="NCIT:C126329", source="Orphanet:231183"} @@ -355460,6 +357857,7 @@ synonym: "acute sensory ataxic Guillain-Barré syndrome" EXACT [Orphanet:231466] synonym: "ASAN" EXACT ABBREVIATION [Orphanet:231466] xref: GARD:20618 {source="Orphanet:231466"} xref: ICD10CM:G61.0 {source="Orphanet:231466", source="Orphanet:231466/ntbt"} +xref: icd11.foundation:1951716831 {source="MONDO:equivalentTo"} xref: Orphanet:231466 {source="MONDO:equivalentTo"} xref: SCTID:766049000 {source="MONDO:equivalentTo"} xref: UMLS:C4707661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -355481,6 +357879,7 @@ subset: rare synonym: "HPS with pulmonary fibrosis" EXACT [Orphanet:231500] xref: GARD:17168 {source="Orphanet:231500"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:231500", source="Orphanet:231500/attributed", source="Orphanet:231500/ntbt"} +xref: icd11.foundation:1086187623 {source="MONDO:equivalentTo"} xref: Orphanet:231500 {source="MONDO:equivalentTo"} xref: UMLS:CN201506 {source="MONDO:equivalentTo"} is_a: MONDO:0017014 ! interstitial lung disease specific to childhood @@ -355498,6 +357897,7 @@ subset: rare synonym: "HPS without pulmonary fibrosis" EXACT [Orphanet:231512] xref: GARD:17169 {source="Orphanet:231512"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:231512", source="Orphanet:231512/attributed", source="Orphanet:231512/ntbt"} +xref: icd11.foundation:1363499932 {source="MONDO:equivalentTo"} xref: Orphanet:231512 {source="MONDO:equivalentTo"} xref: UMLS:CN201507 {source="MONDO:equivalentTo"} is_a: MONDO:0019312 {source="Orphanet:231512"} ! Hermansky-Pudlak syndrome @@ -355531,6 +357931,7 @@ subset: rare synonym: "PUAH" EXACT ABBREVIATION [Orphanet:231580] xref: GARD:20620 {source="Orphanet:231580"} xref: ICD10CM:E26.0 {source="Orphanet:231580/ntbt", source="Orphanet:231580"} +xref: icd11.foundation:1653668765 {source="MONDO:equivalentTo"} xref: Orphanet:231580 {source="MONDO:equivalentTo"} xref: SCTID:715868005 {source="MONDO:equivalentTo"} xref: UMLS:C4274967 {source="MONDO:equivalentTo"} @@ -355676,6 +358077,7 @@ synonym: "NKS" RELATED ABBREVIATION [GARD:0006810] xref: DOID:0060473 {source="MONDO:equivalentTo"} xref: GARD:6810 {source="Orphanet:2322"} xref: ICD10CM:Q87.0 {source="Orphanet:2322", source="Orphanet:2322/attributed", source="Orphanet:2322/ntbt"} +xref: icd11.foundation:1104246467 {source="MONDO:equivalentTo"} xref: MedDRA:10063935 {source="Orphanet:2322", source="Orphanet:2322/e"} xref: MESH:C537705 {source="DOID:0060473", source="Orphanet:2322", source="MONDO:equivalentTo", source="Orphanet:2322/e"} xref: NCIT:C124837 {source="MONDO:equivalentTo"} @@ -355887,6 +358289,7 @@ synonym: "bronchogenic cyst (disease)" EXACT [https://orcid.org/0000-0002-6601-2 xref: GARD:1025 {source="Orphanet:2357"} xref: HP:0100730 {source="MONDO:otherHierarchy"} xref: ICD10CM:J98.4 {source="Orphanet:2357/ntbt", source="Orphanet:2357"} +xref: icd11.foundation:355400995 {source="MONDO:equivalentTo"} xref: MedDRA:10064585 {source="Orphanet:2357", source="Orphanet:2357/e"} xref: MESH:D001994 {source="Orphanet:2357", source="MONDO:equivalentTo", source="Orphanet:2357/e"} xref: Orphanet:2357 {source="MONDO:equivalentTo"} @@ -355927,6 +358330,7 @@ synonym: "hereditary hyperaldosteronism" EXACT [MONDO:patterns/hereditary] xref: GARD:20630 {source="Orphanet:235936"} xref: GARD:21617 {source="Orphanet:371861"} xref: ICD10CM:E26.0 {source="MONDO:relatedTo", source="Orphanet:371861", source="Orphanet:235936/attributed", source="Orphanet:235936/ntbt", source="Orphanet:235936", source="Orphanet:371861/attributed", source="Orphanet:371861/ntbt"} +xref: icd11.foundation:1586992015 {source="MONDO:equivalentTo"} xref: MESH:C580087 {source="MONDO:equivalentTo"} xref: NCIT:C127160 {source="MONDO:equivalentTo"} xref: OMIMPS:103900 {source="MONDO:equivalentTo"} @@ -355993,6 +358397,7 @@ synonym: "lactate dehydrogenase deficiency" RELATED [GARD:0003159] synonym: "LDH deficiency" EXACT [Orphanet:2364] xref: GARD:3159 {source="Orphanet:2364"} xref: ICD10CM:E74.4 {source="Orphanet:2364", source="Orphanet:2364/attributed", source="Orphanet:2364/ntbt"} +xref: icd11.foundation:1092207912 {source="MONDO:equivalentTo"} xref: MESH:C580233 {source="MONDO:equivalentTo"} xref: Orphanet:2364 {source="MONDO:equivalentTo"} is_a: MONDO:0002412 {source="MONDO:Redundant", source="Orphanet:2364"} ! disorder of glycogen metabolism @@ -356017,6 +358422,7 @@ synonym: "short umbilical cord syndrome" RELATED [GARD:0003251] synonym: "umbilical cord, short" RELATED [GARD:0003251] xref: GARD:3251 {source="Orphanet:2369"} xref: ICD10CM:Q87.8 {source="Orphanet:2369", source="Orphanet:2369/ntbt"} +xref: icd11.foundation:353005375 {source="MONDO:equivalentTo"} xref: Orphanet:2369 {source="MONDO:equivalentTo"} xref: SCTID:716106000 {source="MONDO:equivalentTo"} xref: UMLS:C0266786 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0003251"} @@ -356036,6 +358442,7 @@ subset: rare synonym: "urethral duplication" RELATED [GARD:0001975] xref: GARD:1975 {source="Orphanet:237"} xref: ICD10CM:Q64.7 {source="Orphanet:237/ntbt", source="Orphanet:237", source="Orphanet:237/inclusion"} +xref: icd11.foundation:2069509755 {source="MONDO:equivalentTo"} xref: icd11.foundation:2069509755 {source="Orphanet:237", source="MONDO:equivalentTo"} xref: ICD9:753.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:237 {source="MONDO:equivalentTo"} @@ -356057,6 +358464,7 @@ subset: orphanet_rare {source="Orphanet:2372"} subset: rare xref: GARD:3191 {source="Orphanet:2372"} xref: ICD10CM:Q31.3 {source="Orphanet:2372/e", source="MONDO:equivalentTo", source="Orphanet:2372"} +xref: icd11.foundation:360056769 {source="MONDO:equivalentTo"} xref: icd11.foundation:360056769 {source="MONDO:equivalentTo", source="Orphanet:2372"} xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10023885 {source="Orphanet:2372/e", source="Orphanet:2372"} @@ -356100,6 +358508,7 @@ xref: DOID:0050561 {source="MONDO:equivalentTo"} xref: GARD:9912 {source="Orphanet:2382"} xref: ICD10CM:G40.4 {source="Orphanet:2382/ntbt", source="Orphanet:2382/inclusion", source="Orphanet:2382"} xref: icd11.foundation:651135242 {source="MONDO:equivalentTo", source="Orphanet:2382"} +xref: icd11.foundation:651135242 {source="MONDO:equivalentTo"} xref: MedDRA:10048816 {source="Orphanet:2382/e", source="Orphanet:2382"} xref: MESH:C535500 {source="Orphanet:2382/e", source="Orphanet:2382"} xref: MESH:D065768 {source="MONDO:equivalentTo"} @@ -356176,6 +358585,7 @@ xref: DOID:14793 {source="MONDO:equivalentTo"} xref: GARD:76 {source="Orphanet:238468"} xref: HP:0007607 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q82.4 {source="Orphanet:238468", source="Orphanet:238468/e", source="Orphanet:238468/specific"} +xref: icd11.foundation:673167184 {source="MONDO:equivalentTo"} xref: icd11.foundation:673167184 {source="Orphanet:238468", source="MONDO:equivalentTo"} xref: MESH:D053358 {source="DOID:14793"} xref: NCIT:C84562 {source="MONDO:equivalentTo", source="DOID:14793"} @@ -356253,6 +358663,7 @@ subset: rare synonym: "atypical HCS" EXACT [Orphanet:238523] xref: GARD:17175 {source="Orphanet:238523"} xref: ICD10CM:E72.0 {source="Orphanet:238523", source="Orphanet:238523/attributed", source="Orphanet:238523/ntbt"} +xref: icd11.foundation:1982772708 {source="MONDO:equivalentTo"} xref: Orphanet:238523 {source="MONDO:equivalentTo"} xref: UMLS:C4755274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0011669 {source="Orphanet:238523"} ! hypotonia-cystinuria syndrome @@ -356357,6 +358768,7 @@ synonym: "mesenteric panniculitis" EXACT [Orphanet:238593] synonym: "sclerosing mesenteritis" EXACT [Orphanet:238593] xref: GARD:8169 {source="Orphanet:238593"} xref: ICD10CM:K65.8 {source="Orphanet:238593/ntbt", source="Orphanet:238593"} +xref: icd11.foundation:1312565896 {source="MONDO:equivalentTo"} xref: Orphanet:238593 {source="MONDO:equivalentTo"} xref: SCTID:1092381000119100 {source="MONDO:equivalentTo"} xref: UMLS:C0025470 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:238593"} @@ -356460,6 +358872,7 @@ subset: orphanet_rare {source="Orphanet:238646"} subset: rare xref: GARD:20640 {source="Orphanet:238646"} xref: ICD10CM:Q62.2 {source="Orphanet:238646", source="Orphanet:238646/attributed", source="Orphanet:238646/ntbt"} +xref: icd11.foundation:342813504 {source="MONDO:equivalentTo"} xref: Orphanet:238646 {source="MONDO:equivalentTo"} is_a: MONDO:0018960 {source="Orphanet:238646"} ! congenital primary megaureter relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -356475,6 +358888,7 @@ subset: orphanet_rare {source="Orphanet:238650"} subset: rare xref: GARD:20641 {source="Orphanet:238650"} xref: ICD10CM:Q62.2 {source="Orphanet:238650/attributed", source="Orphanet:238650/ntbt", source="Orphanet:238650"} +xref: icd11.foundation:1229028805 {source="MONDO:equivalentTo"} xref: Orphanet:238650 {source="MONDO:equivalentTo"} is_a: MONDO:0018960 {source="Orphanet:238650"} ! congenital primary megaureter relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -356490,6 +358904,7 @@ subset: orphanet_rare {source="Orphanet:238654"} subset: rare xref: GARD:20642 {source="Orphanet:238654"} xref: ICD10CM:Q62.2 {source="Orphanet:238654", source="Orphanet:238654/attributed", source="Orphanet:238654/ntbt"} +xref: icd11.foundation:1090144962 {source="MONDO:equivalentTo"} xref: Orphanet:238654 {source="MONDO:equivalentTo"} is_a: MONDO:0018960 {source="Orphanet:238654"} ! congenital primary megaureter @@ -356600,6 +359015,7 @@ synonym: "isolated congenital controlateral synkinesia" EXACT [DOID:0111153, Orp synonym: "isolated congenital mirror movements" EXACT [DOID:0111153, Orphanet:238722] xref: DOID:0111153 {source="MONDO:equivalentTo"} xref: GARD:12551 {source="Orphanet:238722"} +xref: icd11.foundation:1966778637 {source="MONDO:equivalentTo"} xref: OMIMPS:157600 {source="MONDO:equivalentTo"} xref: Orphanet:238722 {source="MONDO:equivalentTo", source="DOID:0111153"} xref: SCTID:229247004 {source="MONDO:equivalentTo"} @@ -356746,6 +359162,7 @@ xref: DOID:13523 {source="EFO:1000729", source="MONDO:equivalentTo"} xref: EFO:1000729 {source="MONDO:equivalentTo"} xref: GARD:3283 {source="Orphanet:2404"} xref: ICD10CM:B74.3 {source="MONDO:equivalentTo", source="Orphanet:2404", source="DOID:13523", source="Orphanet:2404/e"} +xref: icd11.foundation:709184369 {source="MONDO:equivalentTo"} xref: icd11.foundation:709184369 {source="MONDO:equivalentTo", source="Orphanet:2404"} xref: ICD9:125.2 {source="DOID:13523"} xref: MedDRA:10024797 {source="Orphanet:2404", source="Orphanet:2404/e"} @@ -356775,6 +359192,7 @@ xref: DOID:12697 {source="MONDO:equivalentTo"} xref: GARD:6919 {source="Orphanet:2406"} xref: ICD10CM:G83.5 {source="DOID:12697"} xref: ICD10CM:G83.8 {source="Orphanet:2406/ntbt", source="Orphanet:2406"} +xref: icd11.foundation:17562655 {source="MONDO:equivalentTo"} xref: ICD9:344.81 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12697"} xref: MedDRA:10024792 {source="Orphanet:2406/e", source="Orphanet:2406"} xref: MESH:D000080422 {source="MONDO:equivalentTo"} @@ -356804,6 +359222,7 @@ synonym: "dominant ano-rectal malformation, nephritis and nerve-deafness" RELATE synonym: "Lowe Kohn Cohen syndrome" RELATED [GARD:0001695] xref: GARD:1695 {source="Orphanet:2408"} xref: ICD10CM:Q87.8 {source="Orphanet:2408/attributed", source="Orphanet:2408/ntbt", source="Orphanet:2408"} +xref: icd11.foundation:2061193977 {source="MONDO:equivalentTo"} xref: MESH:C535996 {source="MONDO:equivalentTo"} xref: Orphanet:2408 {source="MONDO:equivalentTo"} xref: SCTID:766249007 {source="MONDO:equivalentTo"} @@ -356833,6 +359252,7 @@ subset: ordo_disease {source="Orphanet:2420"} subset: orphanet_rare {source="Orphanet:2420"} subset: rare xref: GARD:18770 {source="Orphanet:2420"} +xref: icd11.foundation:1042489672 {source="MONDO:equivalentTo"} xref: MedDRA:10037418 {source="Orphanet:2420", source="Orphanet:2420/e"} xref: Orphanet:2420 {source="MONDO:equivalentTo"} xref: SCTID:718200007 {source="MONDO:equivalentTo"} @@ -356867,6 +359287,7 @@ subset: ordo_disease {source="Orphanet:2431"} subset: orphanet_rare {source="Orphanet:2431"} subset: rare xref: ICD10CM:Q04.8 {source="Orphanet:2431/attributed", source="Orphanet:2431/ntbt", source="Orphanet:2431"} +xref: icd11.foundation:67804763 {source="MONDO:equivalentTo"} xref: Orphanet:2431 {source="MONDO:equivalentObsolete"} xref: SCTID:720632004 {source="MONDO:equivalentTo"} xref: UMLS:C4303949 {source="MONDO:equivalentTo"} @@ -356885,6 +359306,7 @@ synonym: "acute fatty liver, gestational" RELATED [GARD:0009578] synonym: "AFLP" EXACT ABBREVIATION [Orphanet:243367] xref: GARD:9578 {source="Orphanet:243367"} xref: ICD10CM:O26.6 {source="Orphanet:243367/ntbt", source="Orphanet:243367"} +xref: icd11.foundation:1226221530 {source="MONDO:equivalentTo"} xref: MedDRA:10000746 {source="Orphanet:243367", source="Orphanet:243367/e"} xref: MESH:C537957 {source="Orphanet:243367", source="MONDO:equivalentTo", source="Orphanet:243367/e"} xref: Orphanet:243367 {source="MONDO:equivalentTo"} @@ -356946,6 +359368,7 @@ xref: DOID:0050144 {source="MONDO:equivalentTo"} xref: DOID:9562 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:4484 {source="Orphanet:244"} xref: ICD10CM:Q34.8 {source="Orphanet:244/attributed", source="Orphanet:244/ntbt", source="Orphanet:244"} +xref: icd11.foundation:1713839459 {source="MONDO:equivalentTo"} xref: MedDRA:10069713 {source="Orphanet:244/e", source="Orphanet:244"} xref: MESH:D002925 {source="MONDO:equivalentTo", source="DOID:9562"} xref: MESH:D007619 {source="DOID:0050144", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -357171,6 +359594,7 @@ synonym: "mandibuloacral dysplasia with lipodystrophy" EXACT [MONDO:0000056] xref: DOID:0081127 {source="MONDO:equivalentTo"} xref: GARD:11893 {source="Orphanet:2457"} xref: ICD10CM:Q87.5 {source="Orphanet:2457", source="Orphanet:2457/attributed", source="Orphanet:2457/ntbt"} +xref: icd11.foundation:1687046570 {source="MONDO:equivalentTo"} xref: NORD:1398 {source="MONDO:NORD"} xref: OMIMPS:248370 {source="MONDO:equivalentTo"} xref: Orphanet:2457 {source="MONDO:equivalentTo"} @@ -357211,6 +359635,7 @@ synonym: "systemic tissue mast cell disease" EXACT [DOID:349] xref: DOID:349 {source="MONDO:equivalentTo"} xref: GARD:8616 {source="Orphanet:2467"} xref: ICD10CM:C96.2 {source="Orphanet:2467/ntbt", source="Orphanet:2467"} +xref: icd11.foundation:1144812971 {source="MONDO:equivalentTo"} xref: icd11.foundation:1144812971 {source="Orphanet:2467", source="MONDO:equivalentTo"} xref: MedDRA:10042949 {source="Orphanet:2467", source="Orphanet:2467/e"} xref: MESH:D034721 {source="DOID:349", source="Orphanet:2467", source="Orphanet:2467/e"} @@ -357344,6 +359769,7 @@ subset: rare synonym: "acquired ataxia" EXACT [MONDO:patterns/acquired] xref: GARD:20656 {source="Orphanet:247242"} xref: icd11.foundation:71197968 {source="MONDO:equivalentTo", source="Orphanet:247242"} +xref: icd11.foundation:71197968 {source="MONDO:equivalentTo"} xref: Orphanet:247242 {source="MONDO:equivalentTo"} xref: SCTID:722968003 {source="MONDO:equivalentTo"} is_a: MONDO:0100308 {source="https://orcid.org/0000-0002-0736-9199"} ! atactic disorder @@ -357527,6 +359953,7 @@ subset: rare synonym: "citrin deficiency" EXACT CLINGEN_LABEL [] xref: GARD:20661 {source="Orphanet:247582"} xref: ICD10CM:E72.2 {source="Orphanet:247582/attributed", source="Orphanet:247582/ntbt", source="Orphanet:247582"} +xref: icd11.foundation:348535193 {source="MONDO:equivalentTo"} xref: Orphanet:247582 {source="MONDO:equivalentTo"} xref: SCTID:429735007 {source="MONDO:equivalentTo"} xref: UMLS:C1863844 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:247582"} @@ -357652,6 +360079,7 @@ synonym: "megalencephaly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165 xref: GARD:16601 {source="Orphanet:2477"} xref: HP:0001355 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q04.5 {source="Orphanet:2477", source="Orphanet:2477/e"} +xref: icd11.foundation:368780653 {source="MONDO:equivalentTo"} xref: icd11.foundation:368780653 {source="Orphanet:2477", source="MONDO:equivalentTo"} xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10050183 {source="Orphanet:2477", source="Orphanet:2477/e"} @@ -357711,6 +360139,7 @@ synonym: "foetal lipoma" EXACT OMO:0003005 [] synonym: "infantile lipoma" EXACT [NCIT:C27483] xref: GARD:12015 {source="Orphanet:247762"} xref: icd11.foundation:581420938 {source="Orphanet:247762", source="MONDO:equivalentTo"} +xref: icd11.foundation:581420938 {source="MONDO:equivalentTo"} xref: MESH:D062689 {source="MONDO:equivalentTo"} xref: NCIT:C27483 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: Orphanet:247762 {source="MONDO:equivalentTo"} @@ -357846,6 +360275,7 @@ synonym: "hypohidrotic ectodermal dysplasia autosomal recessive" RELATED [GARD:0 synonym: "hypohidrotic ectodermal dysplasia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: GARD:2057 {source="Orphanet:248"} xref: ICD10CM:Q82.4 {source="Orphanet:248/attributed", source="Orphanet:248/ntbt", source="Orphanet:248"} +xref: icd11.foundation:7083042 {source="MONDO:equivalentTo"} xref: MESH:D053360 {source="Orphanet:248", source="MONDO:equivalentTo", source="Orphanet:248/e"} xref: NCIT:C84580 {source="MONDO:equivalentTo"} xref: Orphanet:248 {source="MONDO:equivalentTo"} @@ -357885,6 +360315,7 @@ xref: DOID:14283 {source="MONDO:equivalentTo"} xref: GARD:20667 {source="Orphanet:248095"} xref: GARD:7299 {source="Orphanet:2796"} xref: ICD10CM:M89.4 {source="Orphanet:2796/inclusion", source="Orphanet:2796/ntbt", source="DOID:14283", source="Orphanet:2796", source="Orphanet:248095", source="Orphanet:248095/attributed", source="Orphanet:248095/ntbt"} +xref: icd11.foundation:792225761 {source="MONDO:equivalentTo"} xref: MedDRA:10051686 {source="Orphanet:2796", source="Orphanet:2796/e"} xref: MESH:D010004 {source="DOID:14283", source="MONDO:equivalentTo", source="Orphanet:248095", source="Orphanet:248095/e"} xref: NCIT:C85023 {source="DOID:14283", source="MONDO:equivalentTo"} @@ -357940,6 +360371,7 @@ synonym: "fifteen dorsal vertebrae and rib pairs" RELATED [GARD:0003462] synonym: "Melhem Fahl syndrome" RELATED [GARD:0003462] xref: GARD:3462 {source="Orphanet:2482"} xref: ICD10CM:Q76.4 {source="Orphanet:2482/attributed", source="Orphanet:2482/ntbt", source="Orphanet:2482"} +xref: icd11.foundation:999539082 {source="MONDO:equivalentTo"} xref: MESH:C537238 {source="Orphanet:2482/e", source="MONDO:equivalentTo", source="Orphanet:2482"} xref: Orphanet:2482 {source="MONDO:equivalentTo"} xref: SCTID:732263008 {source="MONDO:equivalentTo"} @@ -358082,6 +360514,7 @@ synonym: "isolated dense-SPD" EXACT [Orphanet:248340] synonym: "isolated dense-storage pool disease" EXACT [Orphanet:248340] xref: GARD:20674 {source="Orphanet:248340"} xref: ICD10CM:D69.1 {source="Orphanet:248340", source="Orphanet:248340/attributed", source="Orphanet:248340/ntbt"} +xref: icd11.foundation:2133567182 {source="MONDO:equivalentTo"} xref: Orphanet:248340 {source="MONDO:equivalentTo"} xref: UMLS:CN201837 {source="MONDO:equivalentTo"} is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder @@ -358328,6 +360761,7 @@ synonym: "median cleft syndrome" RELATED [GARD:0002392] xref: DOID:0081044 {source="MONDO:equivalentTo"} xref: GARD:2392 {source="Orphanet:250"} xref: ICD10CM:Q75.8 {source="Orphanet:250", source="Orphanet:250/attributed", source="Orphanet:250/ntbt"} +xref: icd11.foundation:782645776 {source="MONDO:equivalentTo"} xref: MESH:C538065 {source="MONDO:equivalentTo", source="Orphanet:250", source="Orphanet:250/e"} xref: NCIT:C129028 xref: NORD:1165 {source="MONDO:NORD"} @@ -358502,6 +360936,7 @@ synonym: "paternal uniparental disomy of chromosome type 1" EXACT [MONDORULE:1, synonym: "UPD(1)pat" EXACT [Orphanet:251004] xref: GARD:20688 {source="Orphanet:251004"} xref: ICD10CM:Q99.8 {source="Orphanet:251004", source="Orphanet:251004/attributed", source="Orphanet:251004/ntbt"} +xref: icd11.foundation:1239235576 {source="MONDO:equivalentTo"} xref: Orphanet:251004 {source="MONDO:equivalentTo"} xref: SCTID:766719006 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -358520,6 +360955,7 @@ synonym: "maternal uniparental disomy of chromosome type 1" EXACT [MONDORULE:1, synonym: "UPD(1)mat" EXACT [Orphanet:251009] xref: GARD:20689 {source="Orphanet:251009"} xref: ICD10CM:Q99.8 {source="Orphanet:251009/attributed", source="Orphanet:251009/ntbt", source="Orphanet:251009"} +xref: icd11.foundation:351448323 {source="MONDO:equivalentTo"} xref: Orphanet:251009 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy relationship: disease_arises_from_structure CHR:9606-chr1 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 1 (Human) @@ -358745,6 +361181,7 @@ subset: orphanet_rare {source="Orphanet:251304"} subset: rare xref: GARD:20694 {source="Orphanet:251304"} xref: ICD10CM:M08.8 {source="Orphanet:251304", source="Orphanet:251304/ntbt"} +xref: icd11.foundation:1145994427 {source="MONDO:equivalentTo"} xref: Orphanet:251304 {source="MONDO:equivalentTo"} is_a: MONDO:0019751 ! autoinflammatory syndrome relationship: has_characteristic HP:0003593 ! Infantile onset @@ -358797,6 +361234,7 @@ synonym: "drug induced cutaneous vasculitis" EXACT [NCIT:C112204] synonym: "drug induced vasculitis" EXACT [NCIT:C112204] xref: GARD:20697 {source="Orphanet:251325"} xref: ICD10CM:M31.8 {source="Orphanet:251325/ntbt", source="Orphanet:251325"} +xref: icd11.foundation:1376183765 {source="MONDO:equivalentTo"} xref: icd11.foundation:395268449 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:251325"} xref: NCIT:C112204 {source="MONDO:equivalentTo"} xref: Orphanet:251325 {source="MONDO:equivalentTo"} @@ -359147,6 +361585,7 @@ xref: DOID:3071 {source="MONDO:equivalentTo"} xref: EFO:1001465 {source="MONDO:equivalentTo"} xref: GARD:5653 {source="Orphanet:251576"} xref: ICD10CM:G71.9 {source="Orphanet:251576", source="Orphanet:251576/ntbt"} +xref: icd11.foundation:38838668 {source="MONDO:equivalentTo"} xref: ICDO:9442/3 {source="NCIT:C3796"} xref: MedDRA:10018340 {source="Orphanet:251576", source="Orphanet:251576/e"} xref: MESH:D018316 {source="MONDO:equivalentTo", source="DOID:3071"} @@ -359175,6 +361614,8 @@ synonym: "Monstrocellular sarcoma [obs]" EXACT [DOID:3074] xref: DOID:3074 {source="MONDO:equivalentTo"} xref: GARD:20705 {source="Orphanet:251579"} xref: ICD10CM:C71.9 {source="Orphanet:251579", source="Orphanet:251579/ntbt"} +xref: icd11.foundation:221360525 {source="MONDO:equivalentTo"} +xref: icd11.foundation:565094124 {source="MONDO:equivalentTo"} xref: ICDO:9441/3 {source="NCIT:C4325"} xref: MESH:D005909 {source="DOID:3074"} xref: NCIT:C4325 {source="MONDO:equivalentTo", source="DOID:3074"} @@ -359200,6 +361641,8 @@ synonym: "gliomatosis cerebri (morphologic abnormality)" EXACT [DOID:6128] xref: DOID:6128 {source="MONDO:equivalentTo"} xref: GARD:6514 {source="Orphanet:251582"} xref: ICD10CM:C71.0 {source="Orphanet:251582", source="Orphanet:251582/ntbt"} +xref: icd11.foundation:193248354 {source="MONDO:equivalentTo"} +xref: icd11.foundation:373131154 {source="MONDO:equivalentTo"} xref: ICDO:9381/3 {source="NCIT:C4318"} xref: MedDRA:10066254 {source="Orphanet:251582", source="Orphanet:251582/e"} xref: MESH:D018302 {source="DOID:6128"} @@ -359288,6 +361731,7 @@ synonym: "WHO grade II astrocytoma" EXACT [NCIT:C7173] xref: DOID:4857 {source="MONDO:equivalentTo"} xref: GARD:5907 {source="Orphanet:251595"} xref: ICD10CM:C71.9 {source="Orphanet:251595/ntbt", source="Orphanet:251595"} +xref: icd11.foundation:829995112 {source="MONDO:equivalentTo"} xref: NCIT:C7173 {source="MONDO:equivalentTo"} xref: ONCOTREE:DASTR {source="MONDO:equivalentTo"} xref: Orphanet:251595 {source="MONDO:equivalentTo"} @@ -359313,6 +361757,7 @@ synonym: "protoplasmic astrocytoma (morphologic abnormality)" EXACT [DOID:7008] xref: DOID:7008 {source="MONDO:equivalentTo"} xref: GARD:20707 {source="Orphanet:251598"} xref: ICD10CM:C71.9 {source="Orphanet:251598", source="Orphanet:251598/ntbt"} +xref: icd11.foundation:1052848374 {source="MONDO:equivalentTo"} xref: ICDO:9410/3 {source="NCIT:C4320"} xref: MESH:D001254 {source="DOID:7008"} xref: NCIT:C4320 {source="DOID:7008", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -359337,6 +361782,7 @@ synonym: "fibrillary astrocytoma" EXACT [NCIT:C4322] xref: DOID:6726 {source="MONDO:equivalentTo"} xref: GARD:20708 {source="Orphanet:251601"} xref: ICD10CM:C71.9 {source="Orphanet:251601", source="Orphanet:251601/ntbt"} +xref: icd11.foundation:1180465075 {source="MONDO:equivalentTo"} xref: ICDO:9420/3 {source="NCIT:C4322"} xref: MedDRA:10065889 {source="Orphanet:251601/e", source="Orphanet:251601"} xref: MESH:D001254 {source="DOID:6726"} @@ -359364,6 +361810,7 @@ synonym: "Gemistocytoma" EXACT [NCIT:C4321] xref: DOID:7005 {source="MONDO:equivalentTo"} xref: GARD:20709 {source="Orphanet:251604"} xref: ICD10CM:C71.9 {source="Orphanet:251604/ntbt", source="Orphanet:251604"} +xref: icd11.foundation:1313053561 {source="MONDO:equivalentTo"} xref: ICDO:9411/3 {source="NCIT:C4321"} xref: MESH:D001254 {source="DOID:7005"} xref: NCIT:C4321 {source="DOID:7005", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -359387,6 +361834,7 @@ xref: DOID:4852 {source="MONDO:equivalentTo"} xref: GARD:10631 {source="Orphanet:251607"} xref: ICD10CM:C71.9 {source="Orphanet:251607"} xref: ICD10CM:C79.1 {source="Orphanet:251607/ntbt"} +xref: icd11.foundation:124030582 {source="MONDO:equivalentTo"} xref: ICDO:9424/3 {source="NCIT:C4323"} xref: NCIT:C4323 {source="DOID:4852", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:PXA {source="MONDO:equivalentTo"} @@ -359419,6 +361867,8 @@ xref: DOID:4851 {source="MONDO:equivalentTo"} xref: GARD:9808 {source="Orphanet:251612"} xref: ICD10CM:C71.9 {source="Orphanet:251612"} xref: ICD10CM:C79.1 {source="Orphanet:251612/ntbt"} +xref: icd11.foundation:249843059 {source="MONDO:equivalentTo"} +xref: icd11.foundation:424726772 {source="MONDO:equivalentTo"} xref: ICDO:9421/1 {source="NCIT:C4047"} xref: MESH:D001254 {source="DOID:4851"} xref: NCIT:C4047 {source="DOID:4851", source="MONDO:equivalentTo"} @@ -359447,6 +361897,7 @@ synonym: "PMA" RELATED ABBREVIATION [ONCOTREE:PMA] xref: DOID:4845 {source="MONDO:equivalentTo"} xref: GARD:20710 {source="Orphanet:251615"} xref: ICD10CM:C71.9 {source="Orphanet:251615/ntbt", source="Orphanet:251615"} +xref: icd11.foundation:899856825 {source="MONDO:equivalentTo"} xref: ICDO:9425/3 {source="NCIT:C40315"} xref: NCIT:C40315 {source="MONDO:equivalentTo", source="DOID:4845", source="MONDO:exact-label-match"} xref: ONCOTREE:PMA {source="MONDO:equivalentTo"} @@ -359473,6 +361924,7 @@ synonym: "subependymal giant cell astrocytoma (morphologic abnormality)" EXACT [ xref: DOID:5077 {source="MONDO:equivalentTo"} xref: GARD:10632 {source="Orphanet:251618"} xref: ICD10CM:D43.2 {source="Orphanet:251618", source="Orphanet:251618/ntbt"} +xref: icd11.foundation:887826408 {source="MONDO:equivalentTo"} xref: ICDO:9384/1 {source="NCIT:C3696"} xref: MESH:D001254 {source="DOID:5077"} xref: NCIT:C3696 {source="MONDO:equivalentTo", source="DOID:5077"} @@ -359570,6 +362022,7 @@ subset: ordo_disease {source="Orphanet:251633"} subset: orphanet_rare {source="Orphanet:251633"} subset: rare xref: ICD10CM:D43.2 {source="Orphanet:251633/ntbt", source="Orphanet:251633"} +xref: icd11.foundation:641455939 {source="MONDO:equivalentTo"} xref: Orphanet:251633 {source="MONDO:equivalentObsolete"} xref: UMLS:CN201940 {source="MONDO:equivalentTo"} is_a: MONDO:0003266 {source="MONDO:Redundant", source="Orphanet:251633"} ! ependymal tumor @@ -359633,6 +362086,7 @@ synonym: "myxopapillary ependymoma (morphologic abnormality)" EXACT [DOID:5075] xref: DOID:5075 {source="MONDO:equivalentTo"} xref: GARD:10633 {source="Orphanet:251643"} xref: ICD10CM:D43.2 {source="Orphanet:251643", source="Orphanet:251643/ntbt"} +xref: icd11.foundation:1847417141 {source="MONDO:equivalentTo"} xref: ICDO:9394/1 {source="NCIT:C3697"} xref: MESH:D004806 {source="DOID:5075", source="MONDO:directSiblingOf"} xref: NCIT:C3697 {source="MONDO:equivalentTo", source="DOID:5075"} @@ -359800,6 +362254,7 @@ synonym: "Monomorphus angiocentric glioma" EXACT [NCIT:C92552] xref: DOID:0081261 {source="MONDO:equivalentTo"} xref: GARD:20714 {source="Orphanet:251671"} xref: ICD10CM:C71.9 {source="Orphanet:251671/ntbt", source="Orphanet:251671"} +xref: icd11.foundation:542904305 {source="MONDO:equivalentTo"} xref: ICDO:9431/1 {source="NCIT:C92552"} xref: NCIT:C92552 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:ANGL {source="MONDO:equivalentTo"} @@ -359859,6 +362314,7 @@ synonym: "cerebral astroblastoma" RELATED [GARD:0010635] xref: DOID:7305 {source="MONDO:equivalentTo"} xref: GARD:10635 {source="Orphanet:251679"} xref: ICD10CM:C71.9 {source="Orphanet:251679/ntbt", source="Orphanet:251679"} +xref: icd11.foundation:2011571705 {source="MONDO:equivalentTo"} xref: icd11.foundation:96344074 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:251679"} xref: ICDO:9430/3 {source="NCIT:C4324"} xref: MESH:D018302 {source="DOID:7305"} @@ -359922,6 +362378,7 @@ synonym: "nodular medulloblastoma" EXACT [NCIT:C5407] xref: DOID:3873 {source="MONDO:equivalentTo"} xref: GARD:17214 {source="Orphanet:251858"} xref: ICD10CM:C71.6 {source="Orphanet:251858/ntbt", source="Orphanet:251858"} +xref: icd11.foundation:1162549306 {source="MONDO:equivalentTo"} xref: ICDO:9471/3 {source="NCIT:C5407"} xref: NCIT:C5407 {source="DOID:3873", source="MONDO:equivalentTo"} xref: ONCOTREE:MBEN {source="MONDO:equivalentTo"} @@ -359967,6 +362424,8 @@ subset: rare synonym: "classic medulloblastoma" EXACT [NCIT:C54039] xref: GARD:17216 {source="Orphanet:251867"} xref: ICD10CM:C71.6 {source="Orphanet:251867/ntbt", source="Orphanet:251867"} +xref: icd11.foundation:1548011794 {source="MONDO:equivalentTo"} +xref: icd11.foundation:913133221 {source="MONDO:equivalentTo"} xref: NCIT:C54039 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: Orphanet:251867 {source="MONDO:equivalentTo"} xref: SCTID:699704002 {source="MONDO:equivalentTo"} @@ -360113,6 +362572,8 @@ synonym: "malignant tumour of choroid plexus" BROAD OMO:0003005 [] xref: DOID:5648 {source="MONDO:equivalentTo"} xref: GARD:8238 {source="Orphanet:251899"} xref: ICD10CM:C71.7 {source="Orphanet:251899/ntbt", source="Orphanet:251899"} +xref: icd11.foundation:1128449352 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1687223897 {source="MONDO:equivalentTo"} xref: ICDO:9390/3 {source="NCIT:C4715"} xref: MedDRA:10067478 {source="Orphanet:251899/e", source="Orphanet:251899"} xref: MESH:C562943 {source="MONDO:equivalentTo", source="DOID:5648"} @@ -360207,6 +362668,7 @@ xref: DOID:1664 {source="MONDO:equivalentTo", source="EFO:1000475"} xref: EFO:1000475 {source="MONDO:equivalentTo"} xref: GARD:9369 {source="Orphanet:251909"} xref: ICD10CM:C75.3 {source="Orphanet:251909", source="Orphanet:251909/ntbt"} +xref: icd11.foundation:1679690951 {source="MONDO:equivalentTo"} xref: ICDO:9362/3 {source="NCIT:C9344"} xref: MedDRA:10050487 {source="Orphanet:251909", source="Orphanet:251909/e"} xref: MESH:D010871 {source="DOID:1664", source="EFO:1000475"} @@ -360239,6 +362701,8 @@ xref: EFO:1000476 {source="MONDO:equivalentTo"} xref: GARD:8207 {source="Orphanet:251912"} xref: HP:0030407 {source="MONDO:otherHierarchy"} xref: ICD10CM:D44.5 {source="Orphanet:251912/ntbt", source="Orphanet:251912"} +xref: icd11.foundation:2055142333 {source="MONDO:equivalentTo"} +xref: icd11.foundation:629228914 {source="MONDO:equivalentTo"} xref: ICDO:9361/1 {source="NCIT:C6966"} xref: MedDRA:10035059 {source="Orphanet:251912/e", source="Orphanet:251912"} xref: NCIT:C6966 {source="EFO:1000476", source="MONDO:equivalentTo"} @@ -360312,6 +362776,7 @@ synonym: "EVN" EXACT ABBREVIATION [ONCOTREE:EVN, Orphanet:251927] synonym: "extraventricular neurocytoma (WHO grade II)" EXACT [NCIT:C92555] xref: DOID:0081314 {source="MONDO:equivalentTo"} xref: GARD:20727 {source="Orphanet:251927"} +xref: icd11.foundation:445204761 {source="MONDO:equivalentTo"} xref: ICDO:9506/1 {source="NCIT:C92555"} xref: NCIT:C92555 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:EVN {source="MONDO:equivalentTo"} @@ -360364,6 +362829,7 @@ synonym: "GNC" RELATED ABBREVIATION [ONCOTREE:GNC] xref: DOID:2426 {source="MONDO:equivalentTo"} xref: GARD:10638 {source="Orphanet:251937"} xref: ICD10CM:D36.1 {source="Orphanet:251937", source="Orphanet:251937/ntbt"} +xref: icd11.foundation:575417126 {source="MONDO:equivalentTo"} xref: ICDO:9492/0 {source="NCIT:C6934"} xref: MESH:D005729 {source="MONDO:equivalentTo", source="DOID:2426"} xref: MESH:D018305 {source="GARD:0010638"} @@ -360419,6 +362885,7 @@ synonym: "mixed cell tumours containing both neural ganglionic cells and neural xref: DOID:5078 {source="MONDO:equivalentTo"} xref: EFO:0003094 {source="MONDO:equivalentTo"} xref: GARD:2430 {source="Orphanet:251949"} +xref: icd11.foundation:1287417975 {source="MONDO:equivalentTo"} xref: ICDO:9505/1 {source="NCIT:C3788"} xref: MedDRA:10017701 {source="Orphanet:251949", source="Orphanet:251949/e"} xref: MESH:D018303 {source="MONDO:equivalentTo", source="DOID:5078"} @@ -360577,6 +363044,7 @@ synonym: "central nervous system choriocarcinoma (disease)" EXACT [MONDO:pattern synonym: "choriocarcinoma of CNS" EXACT [NCIT:C7012] synonym: "choriocarcinoma of the CNS" EXACT [NCIT:C7012] xref: GARD:20734 {source="Orphanet:252015"} +xref: icd11.foundation:511691786 {source="MONDO:equivalentTo"} xref: NCIT:C7012 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: Orphanet:252015 {source="MONDO:equivalentTo"} xref: UMLS:C1332876 {source="NCIT:C7012", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -360719,6 +363187,7 @@ synonym: "meninges melanocytoma" EXACT [NCIT:C4662] xref: DOID:5900 {source="MONDO:equivalentTo"} xref: EFO:1000370 {source="MONDO:equivalentTo"} xref: GARD:20740 {source="Orphanet:252046"} +xref: icd11.foundation:473991947 {source="MONDO:equivalentTo"} xref: ICDO:8728/1 {source="NCIT:C4662"} xref: NCIT:C4662 {source="DOID:5900", source="MONDO:equivalentTo"} xref: Orphanet:252046 {source="MONDO:equivalentTo"} @@ -360750,6 +363219,7 @@ synonym: "primary CNS melanoma" RELATED [GARD:0012016] synonym: "primary melanoma of the CNS" RELATED [GARD:0012016] synonym: "primary meningeal melanoma" RELATED [GARD:0012016] xref: GARD:12016 {source="Orphanet:252050"} +xref: icd11.foundation:539210076 {source="MONDO:equivalentTo"} xref: NCIT:C5505 {source="ONCOTREE:PCNSM", source="MONDO:equivalentTo"} xref: ONCOTREE:PCNSM {source="MONDO:equivalentTo"} xref: Orphanet:252050 {source="MONDO:equivalentTo"} @@ -360844,6 +363314,7 @@ synonym: "perineurial malignant peripheral nerve sheath tumor" EXACT [NCIT:C6684 synonym: "perineurial malignant peripheral nerve sheath tumour" EXACT OMO:0003005 [] synonym: "perineurioma, malignant" EXACT [MONDO:patterns/malignant] xref: GARD:20741 {source="Orphanet:252128"} +xref: icd11.foundation:986576766 {source="MONDO:equivalentTo"} xref: ICDO:9571/3 {source="NCIT:C66845"} xref: NCIT:C66845 {source="MONDO:equivalentTo"} xref: Orphanet:252128 {source="MONDO:equivalentTo"} @@ -360899,6 +363370,7 @@ synonym: "NFIB" RELATED ABBREVIATION [ONCOTREE:NFIB] xref: DOID:962 {source="MONDO:equivalentTo"} xref: EFO:0000622 {source="MONDO:equivalentTo"} xref: GARD:7191 {source="Orphanet:252183"} +xref: icd11.foundation:221014277 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9540/0 {source="NCIT:C3272"} xref: MedDRA:10029267 {source="Orphanet:252183/e", source="Orphanet:252183"} @@ -361000,6 +363472,7 @@ synonym: "progressive microcephaly from birth extrapyramidal dyskinesia chorea e xref: DOID:0112328 {source="MONDO:equivalentTo"} xref: GARD:10705 {source="Orphanet:2524"} xref: ICD10CM:Q04.3 {source="Orphanet:2524", source="Orphanet:2524/attributed", source="Orphanet:2524/ntbt"} +xref: icd11.foundation:1158649247 {source="MONDO:equivalentTo"} xref: MESH:C548070 {source="MONDO:equivalentTo", source="Orphanet:2524", source="Orphanet:2524/e"} xref: NCIT:C124057 {source="MONDO:equivalentTo"} xref: Orphanet:2524 {source="MONDO:equivalentTo"} @@ -361023,6 +363496,7 @@ synonym: "Seemanova-Lesny syndrome" EXACT [Orphanet:2528] synonym: "X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation" RELATED [GARD:0003627] xref: GARD:3627 {source="Orphanet:2528"} xref: ICD10CM:Q87.8 {source="Orphanet:2528", source="Orphanet:2528/attributed", source="Orphanet:2528/ntbt"} +xref: icd11.foundation:1197077842 {source="MONDO:equivalentTo"} xref: MESH:C537536 {source="Orphanet:2528/e", source="Orphanet:2528"} xref: MESH:C537539 {source="Orphanet:2528/e", source="MONDO:equivalentTo", source="Orphanet:2528"} xref: Orphanet:2528 {source="MONDO:equivalentTo"} @@ -361234,6 +363708,7 @@ synonym: "linear LP" EXACT [Orphanet:254379] synonym: "llp" RELATED [GARD:0011898] xref: GARD:11898 {source="Orphanet:254379"} xref: ICD10CM:L43.8 {source="Orphanet:254379", source="Orphanet:254379/ntbt"} +xref: icd11.foundation:7180779 {source="MONDO:equivalentTo"} xref: Orphanet:254379 {source="MONDO:equivalentTo"} xref: SCTID:44509000 {source="MONDO:equivalentTo"} xref: UMLS:C0023650 {source="MONDO:equivalentTo", source="Orphanet:254379", source="Orphanet:254379/e"} @@ -361257,6 +363732,7 @@ synonym: "lichenoid melanodermatitis" EXACT [Orphanet:254395] synonym: "summertime actinic lichenoid eruption" EXACT [Orphanet:254395] xref: GARD:12673 {source="Orphanet:254395"} xref: ICD10CM:L43.8 {source="Orphanet:254395", source="Orphanet:254395/ntbt"} +xref: icd11.foundation:365229579 {source="MONDO:equivalentTo"} xref: Orphanet:254395 {source="MONDO:equivalentTo"} xref: SCTID:200999007 {source="MONDO:equivalentTo"} xref: UMLS:C0406365 {source="Orphanet:254395", source="MONDO:equivalentTo", source="Orphanet:254395/e"} @@ -361293,6 +363769,7 @@ subset: rare synonym: "annular LP" EXACT [Orphanet:254424] xref: GARD:12674 {source="Orphanet:254424"} xref: ICD10CM:L43.8 {source="Orphanet:254424", source="Orphanet:254424/ntbt"} +xref: icd11.foundation:206328727 {source="MONDO:equivalentTo"} xref: Orphanet:254424 {source="MONDO:equivalentTo"} xref: SCTID:201000006 {source="MONDO:equivalentTo"} xref: UMLS:C0406363 {source="MONDO:equivalentTo", source="Orphanet:254424", source="Orphanet:254424/e"} @@ -361311,6 +363788,7 @@ subset: rare synonym: "atrophic LP" EXACT [Orphanet:254449] xref: GARD:12675 {source="Orphanet:254449"} xref: ICD10CM:L43.8 {source="Orphanet:254449/ntbt", source="Orphanet:254449"} +xref: icd11.foundation:1633911307 {source="MONDO:equivalentTo"} xref: MedDRA:10056959 {source="Orphanet:254449/e", source="Orphanet:254449"} xref: NCIT:C34777 {source="MONDO:equivalentTo"} xref: Orphanet:254449 {source="MONDO:equivalentTo"} @@ -361334,6 +363812,7 @@ synonym: "LP pigmentosa" EXACT [Orphanet:254463] synonym: "LP pigmentosus" EXACT [Orphanet:254463] xref: GARD:10816 {source="Orphanet:254463"} xref: ICD10CM:L43.8 {source="Orphanet:254463/ntbt", source="Orphanet:254463"} +xref: icd11.foundation:1235685123 {source="MONDO:equivalentTo"} xref: Orphanet:254463 {source="MONDO:equivalentTo"} xref: SCTID:717061002 {source="MONDO:equivalentTo"} xref: UMLS:C0406366 {source="Orphanet:254463", source="MONDO:equivalentTo", source="Orphanet:254463/e"} @@ -361352,6 +363831,7 @@ subset: rare synonym: "LP pemphigoides" EXACT [Orphanet:254478] xref: GARD:12677 {source="Orphanet:254478"} xref: ICD10CM:L43.8 {source="Orphanet:254478", source="Orphanet:254478/ntbt"} +xref: icd11.foundation:1373932539 {source="MONDO:equivalentTo"} xref: Orphanet:254478 {source="MONDO:equivalentTo"} xref: SCTID:238653005 {source="MONDO:equivalentTo"} xref: UMLS:C0406369 {source="MONDO:equivalentTo", source="Orphanet:254478", source="Orphanet:254478/e"} @@ -361370,6 +363850,7 @@ subset: rare synonym: "FFA" EXACT ABBREVIATION [Orphanet:254492] xref: GARD:10886 {source="Orphanet:254492"} xref: ICD10CM:L66.1 {source="Orphanet:254492/ntbt", source="MONDO:directSiblingOf", source="Orphanet:254492"} +xref: icd11.foundation:1257078333 {source="MONDO:equivalentTo"} xref: Orphanet:254492 {source="MONDO:equivalentTo"} xref: SCTID:717055000 {source="MONDO:equivalentTo"} xref: UMLS:C1274700 {source="Orphanet:254492/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:254492"} @@ -361389,6 +363870,7 @@ subset: rare synonym: "inhalation botulism" EXACT [Orphanet:254504] xref: GARD:20746 {source="Orphanet:254504"} xref: ICD10CM:A05.1 {source="Orphanet:254504/ntbt", source="Orphanet:254504"} +xref: icd11.foundation:1881625139 {source="MONDO:equivalentTo"} xref: Orphanet:254504 {source="MONDO:equivalentTo"} xref: SCTID:409562009 {source="MONDO:equivalentTo"} xref: UMLS:C1443900 {source="Orphanet:254504/e", source="MONDO:equivalentTo", source="Orphanet:254504"} @@ -361407,6 +363889,7 @@ synonym: "accidental botulism" EXACT [NCIT:C128345] synonym: "inadvertent botulism" EXACT [Orphanet:254509] xref: GARD:20747 {source="Orphanet:254509"} xref: ICD10CM:A05.1 {source="Orphanet:254509/ntbt", source="Orphanet:254509"} +xref: icd11.foundation:230654666 {source="MONDO:equivalentTo"} xref: NCIT:C128345 {source="MONDO:equivalentTo"} xref: Orphanet:254509 {source="MONDO:equivalentTo"} xref: UMLS:C4288922 {source="MONDO:equivalentTo"} @@ -361537,6 +364020,7 @@ synonym: "complete Mole" EXACT [NCIT:C4871] xref: GARD:17224 {source="Orphanet:254688"} xref: ICD10CM:O01.0 {source="Orphanet:254688", source="Orphanet:254688/e"} xref: icd11.foundation:1338299833 {source="MONDO:equivalentTo", source="Orphanet:254688"} +xref: icd11.foundation:1338299833 {source="MONDO:equivalentTo"} xref: NCIT:C4871 {source="MONDO:equivalentTo"} xref: ONCOTREE:CHM {source="MONDO:equivalentTo"} xref: Orphanet:254688 {source="MONDO:equivalentTo"} @@ -361562,6 +364046,7 @@ synonym: "partial Mole" EXACT [NCIT:C4293] synonym: "PHM" RELATED ABBREVIATION [ONCOTREE:PHM] xref: GARD:20749 {source="Orphanet:254693"} xref: ICD10CM:O01.1 {source="Orphanet:254693", source="Orphanet:254693/e"} +xref: icd11.foundation:376452445 {source="MONDO:equivalentTo"} xref: icd11.foundation:714020909 {source="Orphanet:254693", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} xref: ICDO:9103/0 {source="NCIT:C4293"} xref: NCIT:C4293 {source="MONDO:equivalentTo"} @@ -361745,6 +364230,7 @@ subset: orphanet_rare {source="Orphanet:254803"} subset: rare synonym: "mtDNA depletion syndrome, encephalomyopathic form" EXACT [Orphanet:254803] xref: GARD:17225 {source="Orphanet:254803"} +xref: icd11.foundation:113380609 {source="MONDO:equivalentTo"} xref: Orphanet:254803 {source="MONDO:equivalentTo"} xref: UMLS:C4707428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018158 {source="Orphanet:254803"} ! mitochondrial DNA depletion syndrome @@ -361906,6 +364392,7 @@ subset: orphanet_rare {source="Orphanet:254854"} subset: rare xref: GARD:20768 {source="Orphanet:254854"} xref: ICD10CM:G71.3 {source="Orphanet:254854", source="Orphanet:254854/attributed", source="Orphanet:254854/ntbt"} +xref: icd11.foundation:141365898 {source="MONDO:equivalentTo"} xref: Orphanet:254854 {source="MONDO:equivalentTo"} xref: SCTID:732245008 {source="MONDO:equivalentTo"} xref: UMLS:C4517289 {source="MONDO:equivalentTo"} @@ -361931,6 +364418,7 @@ synonym: "mitochondrial spinocerebellar ataxia with epilepsy" EXACT [Orphanet:25 synonym: "MSCAE" EXACT ABBREVIATION [Orphanet:254881] synonym: "SCAE" EXACT ABBREVIATION [Orphanet:254881] xref: GARD:17229 {source="Orphanet:254881"} +xref: icd11.foundation:1238648682 {source="MONDO:equivalentTo"} xref: MESH:C564395 {source="MONDO:equivalentTo"} xref: Orphanet:254881 {source="MONDO:equivalentTo"} xref: UMLS:C1843851 {source="Orphanet:254881"} @@ -361991,6 +364479,7 @@ synonym: "HPD with diurnal fluctuation" EXACT [Orphanet:255] synonym: "Segawa's disease" EXACT [NCIT:C116719] xref: GARD:12144 {source="Orphanet:255"} xref: ICD10CM:G24.8 {source="Orphanet:255/attributed", source="Orphanet:255/ntbt", source="Orphanet:255"} +xref: icd11.foundation:1534901505 {source="MONDO:equivalentTo"} xref: MESH:C538007 {source="Orphanet:255/e", source="MONDO:equivalentTo", source="Orphanet:255"} xref: NCIT:C116719 {source="MONDO:equivalentTo"} xref: Orphanet:255 {source="MONDO:equivalentTo"} @@ -362156,6 +364645,7 @@ xref: DOID:13099 {source="MONDO:equivalentTo"} xref: GARD:7064 {source="Orphanet:2573"} xref: ICD10CM:I67.5 {source="Orphanet:2573", source="Orphanet:2573/e", source="DOID:13099", source="Orphanet:2573/specific"} xref: icd11.foundation:1746892088 {source="Orphanet:2573", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} +xref: icd11.foundation:369231682 {source="MONDO:equivalentTo"} xref: ICD9:437.5 {source="DOID:13099"} xref: MedDRA:10028047 {source="Orphanet:2573", source="Orphanet:2573/e"} xref: MESH:C536991 {source="Orphanet:2573", source="Orphanet:2573/e"} @@ -362379,6 +364869,7 @@ synonym: "pseudoobstruction idiopathic intestinal" RELATED [GARD:0003443] synonym: "visceral myopathy familial" RELATED [GARD:0003443] xref: GARD:3443 {source="Orphanet:2604"} xref: ICD10CM:K56.0 {source="Orphanet:2604/attributed", source="Orphanet:2604/ntbt", source="Orphanet:2604"} +xref: icd11.foundation:1838806574 {source="MONDO:equivalentTo"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:2604 {source="MONDO:equivalentTo"} xref: SCTID:63684002 {source="MONDO:equivalentTo"} @@ -362405,6 +364896,7 @@ xref: DOID:11726 {source="MONDO:equivalentTo"} xref: GARD:6329 {source="Orphanet:261"} xref: ICD10CM:G71.0 {source="Orphanet:261/inclusion", source="Orphanet:261", source="Orphanet:261/ntbt"} xref: icd11.foundation:749295636 {source="MONDO:equivalentTo", source="Orphanet:261"} +xref: icd11.foundation:749295636 {source="MONDO:equivalentTo"} xref: MESH:D020389 {source="MONDO:equivalentTo", source="DOID:11726", source="Orphanet:261", source="Orphanet:261/e"} xref: NCIT:C84685 {source="MONDO:equivalentTo", source="DOID:11726"} xref: NORD:1084 {source="MONDO:NORD"} @@ -362813,6 +365305,7 @@ synonym: "juvenile polymyalgia rheumatica" RELATED [GARD:0003068] synonym: "non-giant cell granulomatous temporal arteritis with eosinophilia" EXACT [Orphanet:26137] xref: GARD:3068 {source="Orphanet:26137"} xref: ICD10CM:L95.8 {source="Orphanet:26137/ntbt", source="Orphanet:26137"} +xref: icd11.foundation:135739104 {source="MONDO:equivalentTo"} xref: Orphanet:26137 {source="MONDO:equivalentTo"} xref: SCTID:722020006 {source="MONDO:equivalentTo"} xref: UMLS:C0751547 {source="MONDO:equivalentTo", source="Orphanet:26137"} @@ -362864,6 +365357,7 @@ synonym: "maternal uniparental disomy of chromosome type X" EXACT [MONDORULE:1, synonym: "UPD(X)mat" EXACT [Orphanet:261519] xref: GARD:20783 {source="Orphanet:261519"} xref: ICD10CM:Q99.8 {source="Orphanet:261519/attributed", source="Orphanet:261519/ntbt", source="Orphanet:261519"} +xref: icd11.foundation:573923144 {source="MONDO:equivalentTo"} xref: Orphanet:261519 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy relationship: disease_arises_from_structure CHR:9606-chrX {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome X (Human) @@ -362880,6 +365374,7 @@ synonym: "paternal uniparental disomy of chromosome type X" EXACT [MONDORULE:1, synonym: "UPD(X)pat" EXACT [Orphanet:261524] xref: GARD:20784 {source="Orphanet:261524"} xref: ICD10CM:Q99.8 {source="Orphanet:261524/attributed", source="Orphanet:261524/ntbt", source="Orphanet:261524"} +xref: icd11.foundation:444322860 {source="MONDO:equivalentTo"} xref: Orphanet:261524 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy relationship: disease_arises_from_structure CHR:9606-chrX {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome X (Human) @@ -362898,6 +365393,7 @@ synonym: "Ring chromosome type Y" EXACT [MONDORULE:1, Orphanet:261529] synonym: "Ring chromosome Y syndrome" RELATED [Orphanet:261529] xref: GARD:20785 {source="Orphanet:261529"} xref: ICD10CM:Q98.6 {source="Orphanet:261529", source="Orphanet:261529/attributed", source="Orphanet:261529/ntbt"} +xref: icd11.foundation:388539343 {source="MONDO:equivalentTo"} xref: Orphanet:261529 {source="MONDO:equivalentTo"} xref: SCTID:763407008 {source="MONDO:equivalentTo"} intersection_of: MONDO:0700091 ! ring chromosome disorder @@ -363030,6 +365526,7 @@ synonym: "familial polyposis coli due to monosomy 5q22.2" EXACT [Orphanet:261584 synonym: "FAP due to monosomy 5q22.2" EXACT [Orphanet:261584] xref: GARD:20786 {source="Orphanet:261584"} xref: ICD10CM:D12.6 {source="Orphanet:261584", source="Orphanet:261584/attributed", source="Orphanet:261584/ntbt"} +xref: icd11.foundation:990238909 {source="MONDO:equivalentTo"} xref: Orphanet:261584 {source="MONDO:equivalentTo"} xref: UMLS:C5548205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016904 {source="Orphanet:261584"} ! partial deletion of the long arm of chromosome 5 @@ -365333,6 +367830,7 @@ synonym: "limb-girdle muscular dystrophy" EXACT CLINGEN_LABEL [] xref: DOID:11724 {source="MONDO:equivalentTo"} xref: GARD:6907 {source="Orphanet:263"} xref: ICD10CM:G71.0 {source="DOID:11724", source="Orphanet:263/inclusion", source="Orphanet:263", source="Orphanet:263/ntbt"} +xref: icd11.foundation:887807212 {source="MONDO:equivalentTo"} xref: icd11.foundation:887807212 {source="MONDO:equivalentTo", source="Orphanet:263"} xref: MESH:D049288 {source="Orphanet:263/e", source="DOID:11724", source="MONDO:equivalentTo", source="Orphanet:263"} xref: NCIT:C84828 {source="DOID:11724", source="MONDO:equivalentTo"} @@ -365437,6 +367935,7 @@ subset: orphanet_rare {source="Orphanet:263331"} subset: rare xref: GARD:20895 {source="Orphanet:263331"} xref: ICD10CM:C37 {source="Orphanet:263331/ntbt", source="Orphanet:263331"} +xref: icd11.foundation:2004515128 {source="MONDO:equivalentTo"} xref: Orphanet:263331 {source="MONDO:equivalentTo"} xref: SCTID:717922007 {source="MONDO:equivalentTo"} xref: UMLS:C4305465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -365452,6 +367951,7 @@ subset: orphanet_rare {source="Orphanet:263335"} subset: rare xref: GARD:20896 {source="Orphanet:263335"} xref: ICD10CM:C37 {source="Orphanet:263335", source="Orphanet:263335/ntbt"} +xref: icd11.foundation:1165208895 {source="MONDO:equivalentTo"} xref: Orphanet:263335 {source="MONDO:equivalentTo"} xref: UMLS:CN202279 {source="MONDO:equivalentTo"} is_a: MONDO:0020516 {source="Orphanet:263335"} ! thymic neuroendocrine carcinoma @@ -365482,6 +367982,7 @@ subset: orphanet_rare {source="Orphanet:263347"} subset: rare synonym: "microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome" EXACT [Orphanet:263347] xref: GARD:17255 {source="Orphanet:263347"} +xref: icd11.foundation:392681472 {source="MONDO:equivalentTo"} xref: Orphanet:263347 {source="MONDO:equivalentTo"} xref: UMLS:C2674009 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:263347"} is_a: MONDO:0019118 {source="Orphanet:263347"} ! inherited retinal dystrophy @@ -365660,6 +368161,7 @@ subset: rare synonym: "neuroacanthocytosis syndrome" RELATED [GARD:0010902] xref: DOID:0050765 {source="MONDO:equivalentTo"} xref: GARD:10902 {source="Orphanet:263440"} +xref: icd11.foundation:1012724153 {source="MONDO:equivalentTo"} xref: MESH:D054546 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C84926 {source="MONDO:equivalentTo"} xref: NORD:1501 {source="MONDO:NORD"} @@ -365829,6 +368331,7 @@ subset: orphanet_rare {source="Orphanet:263662"} subset: rare xref: GARD:17260 {source="Orphanet:263662"} xref: ICD10CM:D32.9 {source="Orphanet:263662/ntbt", source="Orphanet:263662"} +xref: icd11.foundation:160795085 {source="MONDO:equivalentTo"} xref: Orphanet:263662 {source="MONDO:equivalentTo"} is_a: MONDO:0016743 {source="Orphanet:263662"} ! tumor of meninges @@ -366211,6 +368714,7 @@ subset: ordo_disease {source="Orphanet:264691"} subset: orphanet_rare {source="Orphanet:264691"} subset: rare xref: GARD:20924 {source="Orphanet:264691"} +xref: icd11.foundation:1607123556 {source="MONDO:equivalentTo"} xref: icd11.foundation:1610022220 {source="Orphanet:264691", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:448.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:264691 {source="MONDO:equivalentTo"} @@ -366584,6 +369088,7 @@ xref: DOID:13481 {source="MONDO:equivalentTo"} xref: GARD:85 {source="Orphanet:2655"} xref: ICD10CM:Q77.1 {source="DOID:13481", source="Orphanet:2655", source="Orphanet:2655/specific", source="Orphanet:2655/e"} xref: icd11.foundation:1668919215 {source="MONDO:equivalentTo", source="Orphanet:2655"} +xref: icd11.foundation:1668919215 {source="MONDO:equivalentTo"} xref: ICD9:259.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10049808 {source="Orphanet:2655", source="Orphanet:2655/e"} xref: MESH:D013796 {source="MONDO:equivalentTo", source="DOID:13481"} @@ -366614,6 +369119,7 @@ synonym: "stromal nephroma, malignant" EXACT [NCIT:C6569] xref: DOID:4773 {source="MONDO:equivalentTo"} xref: GARD:1493 {source="Orphanet:2665"} xref: ICD10CM:D41.0 {source="Orphanet:2665/ntbt", source="Orphanet:2665"} +xref: icd11.foundation:2001572901 {source="MONDO:equivalentTo"} xref: ICDO:8960/1 {source="NCIT:C6569"} xref: MedDRA:10070665 {source="Orphanet:2665", source="Orphanet:2665/e"} xref: MESH:D018201 {source="DOID:4773", source="Orphanet:2665", source="Orphanet:2665/e"} @@ -366673,6 +369179,7 @@ subset: ordo_disease {source="Orphanet:2677"} subset: orphanet_rare {source="Orphanet:2677"} subset: rare xref: ICD10CM:C71.9 {source="Orphanet:2677", source="Orphanet:2677/ntbt"} +xref: icd11.foundation:841824628 {source="MONDO:equivalentTo"} xref: MESH:D018241 {source="Orphanet:2677", source="Orphanet:2677/e"} xref: Orphanet:2677 {source="MONDO:equivalentObsolete"} xref: UMLS:C0027828 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2677", source="Orphanet:2677/e"} @@ -366719,6 +369226,7 @@ xref: DOID:3559 {source="MONDO:equivalentTo"} xref: EFO:0007456 {source="MONDO:equivalentTo"} xref: GARD:7488 {source="Orphanet:26790"} xref: ICD10CM:C78.6 {source="Orphanet:26790", source="DOID:3559", source="Orphanet:26790/ntbt"} +xref: icd11.foundation:2094765685 {source="MONDO:equivalentTo"} xref: ICDO:8480/6 {source="NCIT:C3345"} xref: MedDRA:10037138 {source="Orphanet:26790", source="Orphanet:26790/e"} xref: MESH:D011553 {source="MONDO:equivalentTo", source="Orphanet:26790", source="DOID:3559", source="Orphanet:26790/e"} @@ -366871,6 +369379,7 @@ subset: rare synonym: "MMF embryopathy" EXACT [Orphanet:268249] xref: GARD:20946 {source="Orphanet:268249"} xref: ICD10CM:Q86.8 {source="Orphanet:268249/ntbt", source="Orphanet:268249"} +xref: icd11.foundation:2111105927 {source="MONDO:equivalentTo"} xref: Orphanet:268249 {source="MONDO:equivalentTo"} xref: SCTID:723406000 {source="MONDO:equivalentTo"} xref: UMLS:C4509879 {source="MONDO:equivalentTo"} @@ -366961,6 +369470,7 @@ subset: orphanet_rare {source="Orphanet:268363"} subset: rare xref: GARD:20949 {source="Orphanet:268363"} xref: ICD10CM:Q00.2 {source="Orphanet:268363/attributed", source="Orphanet:268363/ntbt", source="Orphanet:268363"} +xref: icd11.foundation:1778329323 {source="MONDO:equivalentTo"} xref: Orphanet:268363 {source="MONDO:equivalentTo"} xref: SCTID:203928008 {source="MONDO:equivalentTo"} xref: UMLS:C0431285 {source="Orphanet:268363/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:268363"} @@ -366976,6 +369486,7 @@ subset: orphanet_rare {source="Orphanet:268366"} subset: rare xref: GARD:20950 {source="Orphanet:268366"} xref: ICD10CM:Q00.2 {source="Orphanet:268366", source="Orphanet:268366/attributed", source="Orphanet:268366/ntbt"} +xref: icd11.foundation:1780502952 {source="MONDO:equivalentTo"} xref: Orphanet:268366 {source="MONDO:equivalentTo"} xref: SCTID:203927003 {source="MONDO:equivalentTo"} xref: UMLS:C0431286 {source="Orphanet:268366", source="Orphanet:268366/e", source="MONDO:notFoundInDiseaseSubset"} @@ -367001,6 +369512,7 @@ xref: ICD10CM:Q05.7 {source="Orphanet:268369/attributed", source="Orphanet:26836 xref: ICD10CM:Q05.8 {source="Orphanet:268369/attributed", source="Orphanet:268369/ntbt", source="Orphanet:268369"} xref: ICD10CM:Q05.9 {source="Orphanet:268369/attributed", source="Orphanet:268369/ntbt", source="Orphanet:268369"} xref: icd11.foundation:187581000 {source="Orphanet:268369", source="MONDO:equivalentTo"} +xref: icd11.foundation:187581000 {source="MONDO:equivalentTo"} xref: Orphanet:268369 {source="MONDO:equivalentTo"} xref: SCTID:58557008 {source="MONDO:equivalentTo"} is_a: MONDO:0019351 {source="Orphanet:268369"} ! isolated spina bifida @@ -367014,6 +369526,7 @@ subset: ordo_clinical_subtype {source="Orphanet:268377"} subset: orphanet_rare {source="Orphanet:268377"} subset: rare xref: GARD:20952 {source="Orphanet:268377"} +xref: icd11.foundation:910194123 {source="MONDO:equivalentTo"} xref: Orphanet:268377 {source="MONDO:equivalentTo"} xref: UMLS:CN202422 {source="MONDO:equivalentTo"} is_a: MONDO:0017062 {source="Orphanet:268377"} ! spina bifida aperta @@ -367027,6 +369540,7 @@ subset: ordo_clinical_subtype {source="Orphanet:268384"} subset: orphanet_rare {source="Orphanet:268384"} subset: rare xref: GARD:20953 {source="Orphanet:268384"} +xref: icd11.foundation:2108603667 {source="MONDO:equivalentTo"} xref: Orphanet:268384 {source="MONDO:equivalentTo"} xref: UMLS:C5439435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017062 {source="Orphanet:268384"} ! spina bifida aperta @@ -367040,6 +369554,7 @@ subset: ordo_clinical_subtype {source="Orphanet:268388"} subset: orphanet_rare {source="Orphanet:268388"} subset: rare xref: GARD:20954 {source="Orphanet:268388"} +xref: icd11.foundation:417689735 {source="MONDO:equivalentTo"} xref: Orphanet:268388 {source="MONDO:equivalentTo"} xref: UMLS:C5439434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017062 {source="Orphanet:268388"} ! spina bifida aperta @@ -367053,6 +369568,7 @@ subset: ordo_clinical_subtype {source="Orphanet:268392"} subset: orphanet_rare {source="Orphanet:268392"} subset: rare xref: GARD:20955 {source="Orphanet:268392"} +xref: icd11.foundation:151252460 {source="MONDO:equivalentTo"} xref: ICD9:741.91 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:268392 {source="MONDO:equivalentTo"} xref: SCTID:425687007 {source="MONDO:equivalentTo"} @@ -367068,6 +369584,7 @@ subset: ordo_clinical_subtype {source="Orphanet:268397"} subset: orphanet_rare {source="Orphanet:268397"} subset: rare xref: GARD:20956 {source="Orphanet:268397"} +xref: icd11.foundation:572666703 {source="MONDO:equivalentTo"} xref: Orphanet:268397 {source="MONDO:equivalentTo"} xref: UMLS:C5439433 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017062 {source="Orphanet:268397"} ! spina bifida aperta @@ -367081,6 +369598,7 @@ subset: ordo_clinical_subtype {source="Orphanet:268740"} subset: orphanet_rare {source="Orphanet:268740"} subset: rare xref: GARD:20957 {source="Orphanet:268740"} +xref: icd11.foundation:772010291 {source="MONDO:equivalentTo"} xref: Orphanet:268740 {source="MONDO:equivalentTo"} xref: UMLS:CN202428 {source="MONDO:equivalentTo"} is_a: MONDO:0017062 {source="Orphanet:268740"} ! spina bifida aperta @@ -367113,6 +369631,7 @@ xref: ICD10CM:Q05.7 {source="Orphanet:268744/attributed", source="Orphanet:26874 xref: ICD10CM:Q05.8 {source="Orphanet:268744/attributed", source="Orphanet:268744/ntbt", source="Orphanet:268744"} xref: ICD10CM:Q05.9 {source="Orphanet:268744/attributed", source="Orphanet:268744/ntbt", source="Orphanet:268744"} xref: icd11.foundation:979482551 {source="Orphanet:268744", source="MONDO:equivalentTo"} +xref: icd11.foundation:979482551 {source="MONDO:equivalentTo"} xref: MedDRA:10071011 {source="Orphanet:268744", source="Orphanet:268744/e"} xref: MESH:D016137 {source="MONDO:equivalentTo"} xref: NCIT:C101201 {source="MONDO:equivalentTo"} @@ -367212,6 +369731,7 @@ xref: ICD10CM:Q05.6 {source="Orphanet:268810/attributed", source="Orphanet:26881 xref: ICD10CM:Q05.7 {source="Orphanet:268810/attributed", source="Orphanet:268810/ntbt", source="Orphanet:268810"} xref: ICD10CM:Q05.8 {source="Orphanet:268810/attributed", source="Orphanet:268810/ntbt", source="Orphanet:268810"} xref: ICD10CM:Q05.9 {source="Orphanet:268810/attributed", source="Orphanet:268810/ntbt", source="Orphanet:268810"} +xref: icd11.foundation:1464755755 {source="MONDO:equivalentTo"} xref: Orphanet:268810 {source="MONDO:equivalentTo"} xref: UMLS:C5680741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017069 {source="Orphanet:268810"} ! spina bifida cystica @@ -367236,6 +369756,7 @@ xref: ICD10CM:Q05.7 {source="Orphanet:268813", source="Orphanet:268813/attribute xref: ICD10CM:Q05.8 {source="Orphanet:268813", source="Orphanet:268813/attributed", source="Orphanet:268813/ntbt"} xref: ICD10CM:Q05.9 {source="Orphanet:268813", source="Orphanet:268813/attributed", source="Orphanet:268813/ntbt"} xref: icd11.foundation:863949070 {source="MONDO:equivalentTo", source="Orphanet:268813"} +xref: icd11.foundation:863949070 {source="MONDO:equivalentTo"} xref: Orphanet:268813 {source="MONDO:equivalentTo"} xref: SCTID:203994003 {source="MONDO:equivalentTo"} is_a: MONDO:0017069 {source="Orphanet:268813"} ! spina bifida cystica @@ -367260,6 +369781,7 @@ xref: ICD10CM:Q01.1 {source="Orphanet:268817/attributed", source="Orphanet:26881 xref: ICD10CM:Q01.2 {source="Orphanet:268817/attributed", source="Orphanet:268817/ntbt", source="Orphanet:268817"} xref: ICD10CM:Q01.8 {source="Orphanet:268817/attributed", source="Orphanet:268817/ntbt", source="Orphanet:268817"} xref: ICD10CM:Q01.9 {source="Orphanet:268817/attributed", source="Orphanet:268817/ntbt", source="Orphanet:268817"} +xref: icd11.foundation:1520916568 {source="MONDO:equivalentTo"} xref: icd11.foundation:1520916568 {source="MONDO:equivalentTo", source="Orphanet:268817"} xref: ICD9:742.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C84687 {source="MONDO:equivalentTo"} @@ -367310,6 +369832,7 @@ subset: orphanet_rare {source="Orphanet:268823"} subset: rare xref: GARD:20969 {source="Orphanet:268823"} xref: ICD10CM:Q01.2 {source="MONDO:equivalentTo", source="Orphanet:268823", source="Orphanet:268823/specific", source="Orphanet:268823/e"} +xref: icd11.foundation:1075031814 {source="MONDO:equivalentTo"} xref: Orphanet:268823 {source="MONDO:equivalentTo"} xref: SCTID:42376006 {source="MONDO:equivalentTo"} xref: UMLS:C0014067 {source="Orphanet:268823", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:268823/e"} @@ -367325,6 +369848,7 @@ subset: orphanet_rare {source="Orphanet:268826"} subset: rare xref: GARD:20970 {source="Orphanet:268826"} xref: ICD10CM:Q01.8 {source="Orphanet:268826/attributed", source="Orphanet:268826/ntbt", source="Orphanet:268826"} +xref: icd11.foundation:1122294944 {source="MONDO:equivalentTo"} xref: Orphanet:268826 {source="MONDO:equivalentTo"} xref: SCTID:253109005 {source="MONDO:equivalentTo"} xref: UMLS:C0431294 {source="Orphanet:268826/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:268826"} @@ -367340,6 +369864,7 @@ subset: orphanet_rare {source="Orphanet:268829"} subset: rare xref: GARD:20971 {source="Orphanet:268829"} xref: ICD10CM:Q01.8 {source="Orphanet:268829/attributed", source="Orphanet:268829/ntbt", source="Orphanet:268829"} +xref: icd11.foundation:533416539 {source="MONDO:equivalentTo"} xref: Orphanet:268829 {source="MONDO:equivalentTo"} xref: UMLS:C4023176 {source="MONDO:equivalentTo"} is_a: MONDO:0016057 {source="Orphanet:268829"} ! isolated encephalocele @@ -367364,6 +369889,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:268838"} subset: orphanet_rare {source="Orphanet:268838"} subset: rare xref: GARD:20973 {source="Orphanet:268838"} +xref: icd11.foundation:1479116207 {source="MONDO:equivalentTo"} xref: Orphanet:268838 {source="MONDO:equivalentTo"} is_a: MONDO:0018075 {source="https://orcid.org/0000-0002-4142-7153"} ! neural tube defect is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis @@ -367397,6 +369923,7 @@ synonym: "Tethered Cord Syndrome" EXACT [NORD:1762] synonym: "tethered cord syndrome" RELATED [GARD:0004018] xref: GARD:4018 {source="Orphanet:268861"} xref: icd11.foundation:66705662 {source="Orphanet:268861", source="MONDO:equivalentTo"} +xref: icd11.foundation:66705662 {source="MONDO:equivalentTo"} xref: NORD:1762 {source="MONDO:NORD"} xref: Orphanet:268861 {source="MONDO:equivalentTo"} xref: SCTID:70534000 {source="MONDO:equivalentTo"} @@ -367412,6 +369939,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:268865"} subset: orphanet_rare {source="Orphanet:268865"} subset: rare xref: GARD:20975 {source="Orphanet:268865"} +xref: icd11.foundation:172158971 {source="MONDO:equivalentTo"} xref: Orphanet:268865 {source="MONDO:equivalentTo"} xref: UMLS:C0027806 {source="Orphanet:268865", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:268865/e"} is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect @@ -367477,6 +370005,7 @@ subset: orphanet_rare {source="Orphanet:268940"} subset: rare xref: GARD:17269 {source="Orphanet:268940"} xref: ICD10CM:Q04.3 {source="Orphanet:268940", source="Orphanet:268940/attributed", source="Orphanet:268940/ntbt"} +xref: icd11.foundation:422828750 {source="MONDO:equivalentTo"} xref: Orphanet:268940 {source="MONDO:equivalentTo"} xref: SCTID:765757003 {source="MONDO:equivalentTo"} is_a: MONDO:0000087 {source="Orphanet:268940"} ! polymicrogyria @@ -367492,6 +370021,7 @@ subset: orphanet_rare {source="Orphanet:268943"} subset: rare xref: GARD:20980 {source="Orphanet:268943"} xref: ICD10CM:Q04.3 {source="Orphanet:268943", source="Orphanet:268943/attributed", source="Orphanet:268943/ntbt"} +xref: icd11.foundation:782302128 {source="MONDO:equivalentTo"} xref: Orphanet:268943 {source="MONDO:equivalentTo"} xref: SCTID:715905006 {source="MONDO:equivalentTo"} xref: UMLS:C4024960 {source="MONDO:equivalentTo"} @@ -367509,6 +370039,7 @@ subset: rare xref: DOID:0080919 {source="MONDO:equivalentTo"} xref: GARD:20981 {source="Orphanet:268947"} xref: ICD10CM:Q04.3 {source="Orphanet:268947/attributed", source="Orphanet:268947/ntbt", source="Orphanet:268947"} +xref: icd11.foundation:1006662041 {source="MONDO:equivalentTo"} xref: Orphanet:268947 {source="MONDO:equivalentTo"} is_a: MONDO:0017092 {source="Orphanet:268947"} ! unilateral polymicrogyria @@ -367784,6 +370315,7 @@ subset: orphanet_rare {source="Orphanet:269218"} subset: rare xref: GARD:20995 {source="Orphanet:269218"} xref: ICD10CM:Q04.3 {source="Orphanet:269218", source="Orphanet:269218/ntbt"} +xref: icd11.foundation:1960392411 {source="MONDO:equivalentTo"} xref: Orphanet:269218 {source="MONDO:equivalentTo"} xref: SCTID:766934006 {source="MONDO:equivalentTo"} is_a: MONDO:0020022 {source="https://orcid.org/0000-0002-4142-7153"} ! central nervous system malformation @@ -367802,6 +370334,7 @@ subset: orphanet_rare {source="Orphanet:269221"} subset: rare xref: GARD:20996 {source="Orphanet:269221"} xref: ICD10CM:Q04.3 {source="Orphanet:269221/ntbt", source="Orphanet:269221"} +xref: icd11.foundation:1366151963 {source="MONDO:equivalentTo"} xref: Orphanet:269221 {source="MONDO:equivalentTo"} is_a: MONDO:0020022 {source="https://orcid.org/0000-0002-4142-7153"} ! central nervous system malformation is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis @@ -367985,6 +370518,7 @@ xref: DOID:9672 {source="EFO:1001063", source="MONDO:equivalentTo"} xref: EFO:1001063 {source="MONDO:equivalentTo"} xref: GARD:4001 {source="Orphanet:2700"} xref: ICD10CM:A69.0 {source="Orphanet:2700", source="DOID:9672", source="Orphanet:2700/e"} +xref: icd11.foundation:340823130 {source="MONDO:equivalentTo"} xref: icd11.foundation:340823130 {source="MONDO:equivalentTo", source="Orphanet:2700"} xref: ICD9:528.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9672"} xref: MedDRA:10029502 {source="EFO:1001063", source="Orphanet:2700", source="Orphanet:2700/e"} @@ -368164,6 +370698,7 @@ subset: rare xref: DOID:0060288 {source="MONDO:equivalentTo"} xref: GARD:16608 {source="Orphanet:2733"} xref: ICD10CM:Q78.8 {source="Orphanet:2733", source="Orphanet:2733/attributed", source="Orphanet:2733/ntbt"} +xref: icd11.foundation:1081897527 {source="MONDO:equivalentTo"} xref: MESH:C537746 {source="DOID:0060288"} xref: MESH:C567664 {source="DOID:0060288"} xref: OMIMPS:258315 {source="MONDO:equivalentTo"} @@ -368200,6 +370735,7 @@ xref: DOID:11678 {source="EFO:0007402", source="MONDO:equivalentTo"} xref: EFO:0007402 {source="MONDO:equivalentTo"} xref: GARD:7252 {source="Orphanet:2737"} xref: ICD10CM:B73 {source="Orphanet:2737/e", source="DOID:11678", source="MONDO:equivalentTo", source="Orphanet:2737"} +xref: icd11.foundation:106136071 {source="MONDO:equivalentTo"} xref: icd11.foundation:106136071 {source="MONDO:equivalentTo", source="Orphanet:2737"} xref: ICD9:125.3 {source="DOID:11678"} xref: MedDRA:10030314 {source="Orphanet:2737/e", source="Orphanet:2737"} @@ -368283,6 +370819,7 @@ synonym: "oro-mandibular-limb hypogenesis syndrome" RELATED [GARD:0004116] synonym: "Oroacral syndrome" EXACT [Orphanet:2749] xref: GARD:4116 {source="Orphanet:2749"} xref: ICD10CM:Q87.5 {source="Orphanet:2749/attributed", source="Orphanet:2749/ntbt", source="Orphanet:2749"} +xref: icd11.foundation:1665391511 {source="MONDO:equivalentTo"} xref: Orphanet:2749 {source="MONDO:equivalentTo"} xref: UMLS:CN202556 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease @@ -368304,6 +370841,7 @@ synonym: "L1 syndrome" EXACT CLINGEN_LABEL [] synonym: "L1CAM syndrome" EXACT [Orphanet:275543] xref: GARD:12524 {source="Orphanet:275543"} xref: ICD10CM:Q04.8 {source="Orphanet:275543", source="Orphanet:275543/attributed", source="Orphanet:275543/ntbt"} +xref: icd11.foundation:1457804873 {source="MONDO:equivalentTo"} xref: NORD:1343 {source="MONDO:NORD"} xref: Orphanet:275543 {source="MONDO:equivalentTo"} xref: UMLS:CN118845 {source="MONDO:equivalentTo"} @@ -368427,6 +370965,7 @@ synonym: "IPAH" EXACT ABBREVIATION [Orphanet:275766] synonym: "primary pulmonary arterial hypertension" EXACT [Orphanet:275766] xref: GARD:21025 {source="Orphanet:275766"} xref: ICD10CM:I27.0 {source="Orphanet:275766", source="Orphanet:275766/attributed", source="Orphanet:275766/ntbt"} +xref: icd11.foundation:265520344 {source="MONDO:equivalentTo"} xref: ICD9:416.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10065151 {source="Orphanet:275766", source="Orphanet:275766/e"} xref: Orphanet:275766 {source="MONDO:equivalentTo"} @@ -368704,6 +371243,7 @@ synonym: "FTD-ALS" EXACT [Orphanet:275872] synonym: "FTD-MND" EXACT [Orphanet:275872] synonym: "FTDALS" EXACT ABBREVIATION [MONDO:0000712] xref: GARD:17273 {source="Orphanet:275872"} +xref: icd11.foundation:1171850356 {source="MONDO:equivalentTo"} xref: MESH:C566288 {source="MONDO:equivalentTo"} xref: OMIMPS:105550 {source="MONDO:equivalentTo"} xref: Orphanet:275872 {source="MONDO:equivalentTo"} @@ -368884,6 +371424,7 @@ subset: ordo_disease {source="Orphanet:276174"} subset: orphanet_rare {source="Orphanet:276174"} subset: rare xref: GARD:21045 {source="Orphanet:276174"} +xref: icd11.foundation:1473114049 {source="MONDO:equivalentTo"} xref: Orphanet:276174 {source="MONDO:equivalentTo"} xref: SCTID:763739002 {source="MONDO:equivalentTo"} xref: UMLS:C4706562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -368958,6 +371499,7 @@ synonym: "SCA3, Joseph type" EXACT [Orphanet:276238] synonym: "spinocerebellar ataxia type 3, Joseph type" EXACT [Orphanet:276238] xref: GARD:21048 {source="Orphanet:276238"} xref: ICD10CM:G11.8 {source="Orphanet:276238", source="Orphanet:276238/attributed", source="Orphanet:276238/ntbt"} +xref: icd11.foundation:1094680019 {source="MONDO:equivalentTo"} xref: Orphanet:276238 {source="MONDO:equivalentTo"} xref: SCTID:91953003 {source="MONDO:equivalentTo"} xref: UMLS:C0751668 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:276238", source="Orphanet:276238/e"} @@ -368977,6 +371519,7 @@ synonym: "SCA3, Thomas type" EXACT [Orphanet:276241] synonym: "spinocerebellar ataxia, Thomas type" EXACT [Orphanet:276241] xref: GARD:21049 {source="Orphanet:276241"} xref: ICD10CM:G11.8 {source="Orphanet:276241", source="Orphanet:276241/attributed", source="Orphanet:276241/ntbt"} +xref: icd11.foundation:1775824880 {source="MONDO:equivalentTo"} xref: Orphanet:276241 {source="MONDO:equivalentTo"} xref: SCTID:91954009 {source="MONDO:equivalentTo"} xref: UMLS:C0751669 {source="Orphanet:276241", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:276241/e"} @@ -368996,6 +371539,7 @@ synonym: "SCA3, Machado type" EXACT [Orphanet:276244] synonym: "spinocerebellar ataxia type 3, Machado type" EXACT [Orphanet:276244] xref: GARD:21050 {source="Orphanet:276244"} xref: ICD10CM:G11.8 {source="Orphanet:276244", source="Orphanet:276244/attributed", source="Orphanet:276244/ntbt"} +xref: icd11.foundation:1540439031 {source="MONDO:equivalentTo"} xref: Orphanet:276244 {source="MONDO:equivalentTo"} xref: SCTID:91955005 {source="MONDO:equivalentTo"} xref: UMLS:C0751670 {source="Orphanet:276244", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:276244/e"} @@ -369050,6 +371594,7 @@ xref: GARD:12703 {source="Orphanet:2764"} xref: HP:0010886 {source="MONDO:otherHierarchy"} xref: ICD10CM:M93.2 {source="Orphanet:251262/attributed", source="Orphanet:251262/ntbt", source="Orphanet:251262", source="Orphanet:2764", source="Orphanet:2764/e", source="DOID:84"} xref: ICD10CM:M93.9 {source="DOID:84"} +xref: icd11.foundation:467851106 {source="MONDO:equivalentTo"} xref: ICD9:732.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:84"} xref: MedDRA:10031231 {source="Orphanet:2764", source="Orphanet:2764/e"} xref: MESH:D010007 {source="DOID:84"} @@ -369120,6 +371665,7 @@ synonym: "hypnic headache (disease)" EXACT [https://orcid.org/0000-0002-6601-216 xref: GARD:10796 {source="Orphanet:276429"} xref: HP:0012459 {source="MONDO:otherHierarchy"} xref: ICD10CM:G44.8 {source="Orphanet:276429/ntbt", source="Orphanet:276429"} +xref: icd11.foundation:468065426 {source="MONDO:equivalentTo"} xref: ICD9:339.81 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D051270 {source="MONDO:equivalentTo"} xref: Orphanet:276429 {source="MONDO:equivalentTo"} @@ -369353,6 +371899,7 @@ synonym: "tibia vara Blount" EXACT [Orphanet:2768] xref: DOID:14798 {source="MONDO:equivalentTo"} xref: GARD:916 {source="Orphanet:2768"} xref: ICD10CM:M92.5 {source="Orphanet:2768", source="Orphanet:2768/attributed", source="Orphanet:2768/ntbt"} +xref: icd11.foundation:138830223 {source="MONDO:equivalentTo"} xref: ICD9:736.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10072255 {source="Orphanet:2768", source="Orphanet:2768/e"} xref: MESH:C536237 {source="MONDO:equivalentTo", source="Orphanet:2768", source="Orphanet:2768/e", source="DOID:14798"} @@ -369379,6 +371926,7 @@ synonym: "osteogenesis imperfecta-congenital joint contractures syndrome" EXACT xref: DOID:0060231 {source="MONDO:equivalentTo"} xref: GARD:1029 {source="Orphanet:2771"} xref: ICD10CM:M21.8 {source="DOID:0060231", source="Orphanet:2771", source="Orphanet:2771/index", source="Orphanet:2771/ntbt"} +xref: icd11.foundation:1783996418 {source="MONDO:equivalentTo"} xref: ICD9:733.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10063718 {source="Orphanet:2771", source="Orphanet:2771/e"} xref: Orphanet:2771 {source="DOID:0060231", source="MONDO:equivalentTo"} @@ -369465,6 +372013,7 @@ xref: DOID:13533 {source="MONDO:equivalentTo"} xref: GARD:4155 {source="Orphanet:2781"} xref: HP:0011002 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q78.2 {source="Orphanet:2781", source="Orphanet:2781/e", source="Orphanet:2781/specific", source="DOID:13533"} +xref: icd11.foundation:1498426606 {source="MONDO:equivalentTo"} xref: icd11.foundation:1498426606 {source="Orphanet:2781", source="MONDO:equivalentTo"} xref: ICD9:756.52 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13533"} xref: MedDRA:10031280 {source="Orphanet:2781", source="Orphanet:2781/e"} @@ -369541,6 +372090,7 @@ synonym: "Spasmus nutans (disease)" EXACT [https://orcid.org/0000-0002-6601-2165 xref: GARD:21058 {source="Orphanet:279882"} xref: HP:0010533 {source="MONDO:otherHierarchy"} xref: ICD10CM:F98.4 {source="Orphanet:279882", source="Orphanet:279882/ntbt"} +xref: icd11.foundation:1868433558 {source="MONDO:equivalentTo"} xref: MedDRA:10059593 {source="Orphanet:279882", source="Orphanet:279882/e"} xref: Orphanet:279882 {source="MONDO:equivalentTo"} xref: SCTID:400948003 {source="MONDO:equivalentTo"} @@ -369627,6 +372177,7 @@ subset: orphanet_rare {source="Orphanet:279897"} subset: rare synonym: "primary oculocerebral non-Hodgkin lymphoma" EXACT [Orphanet:279897] xref: GARD:21062 {source="Orphanet:279897"} +xref: icd11.foundation:446504143 {source="MONDO:equivalentTo"} xref: Orphanet:279897 {source="MONDO:equivalentTo"} is_a: MONDO:0017207 {source="Orphanet:279897"} ! primary organ-specific lymphoma is_a: MONDO:0021220 {source="MONDO:Redundant", source="Orphanet:279897"} ! eye neoplasm @@ -369709,6 +372260,7 @@ subset: orphanet_rare {source="Orphanet:279925"} subset: rare xref: GARD:21068 {source="Orphanet:279925"} xref: ICD10CM:H44.1 {source="Orphanet:279925/ntbt", source="Orphanet:279925"} +xref: icd11.foundation:1709165622 {source="MONDO:equivalentTo"} xref: icd11.foundation:1709165622 {source="MONDO:equivalentTo", source="Orphanet:279925"} xref: Orphanet:279925 {source="MONDO:equivalentTo"} is_a: MONDO:0005550 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! infectious disease @@ -369746,6 +372298,7 @@ subset: rare synonym: "POIS" EXACT ABBREVIATION [Orphanet:279947] synonym: "post orgasmic sick syndrome" RELATED [GARD:0010809] xref: GARD:10809 {source="Orphanet:279947"} +xref: icd11.foundation:1094271130 {source="MONDO:equivalentTo"} xref: Orphanet:279947 {source="MONDO:equivalentTo"} xref: UMLS:C4749582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002118 {source="GARD:0010809"} ! urinary system disorder @@ -369874,6 +372427,7 @@ synonym: "Microform HPE" EXACT [Orphanet:280200] xref: DOID:0111380 {source="MONDO:equivalentTo"} xref: GARD:17290 {source="Orphanet:280200"} xref: ICD10CM:Q04.2 {source="Orphanet:280200/attributed", source="Orphanet:280200/ntbt", source="Orphanet:280200", source="MONDO:directSiblingOf"} +xref: icd11.foundation:44293173 {source="MONDO:equivalentTo"} xref: Orphanet:280200 {source="MONDO:equivalentTo"} xref: UMLS:C5393309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016296 {source="https://orcid.org/0000-0002-4142-7153"} ! holoprosencephaly @@ -369912,6 +372466,7 @@ synonym: "Pelizaeus-Merzbacher disease type II" EXACT [Orphanet:280210] synonym: "severe PMD" EXACT [Orphanet:280210] xref: GARD:17291 {source="Orphanet:280210"} xref: ICD10CM:E75.2 {source="Orphanet:280210", source="Orphanet:280210/attributed", source="Orphanet:280210/ntbt"} +xref: icd11.foundation:1118374715 {source="MONDO:equivalentTo"} xref: Orphanet:280210 {source="MONDO:equivalentTo"} xref: UMLS:CN202703 {source="MONDO:equivalentTo"} is_a: MONDO:0010714 {source="Orphanet:280210"} ! Pelizeaus-Merzbacher spectrum disorder @@ -369928,6 +372483,7 @@ subset: rare synonym: "classic PMD" EXACT [Orphanet:280219] xref: GARD:21073 {source="Orphanet:280219"} xref: ICD10CM:E75.2 {source="Orphanet:280219/attributed", source="Orphanet:280219/ntbt", source="Orphanet:280219"} +xref: icd11.foundation:1613420896 {source="MONDO:equivalentTo"} xref: Orphanet:280219 {source="MONDO:equivalentTo"} xref: SCTID:87607002 {source="MONDO:equivalentTo"} xref: UMLS:C0751916 {source="Orphanet:280219", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:280219/e"} @@ -369945,6 +372501,7 @@ subset: rare synonym: "transitional PMD" EXACT [Orphanet:280224] xref: GARD:21074 {source="Orphanet:280224"} xref: ICD10CM:E75.2 {source="Orphanet:280224/attributed", source="Orphanet:280224/ntbt", source="Orphanet:280224"} +xref: icd11.foundation:1471805474 {source="MONDO:equivalentTo"} xref: Orphanet:280224 {source="MONDO:equivalentTo"} xref: UMLS:C0751917 {source="Orphanet:280224/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:280224"} is_a: MONDO:0010714 {source="Orphanet:280224"} ! Pelizeaus-Merzbacher spectrum disorder @@ -369960,6 +372517,7 @@ subset: orphanet_rare {source="Orphanet:280229"} subset: rare xref: GARD:21075 {source="Orphanet:280229"} xref: ICD10CM:E75.2 {source="Orphanet:280229", source="Orphanet:280229/attributed", source="Orphanet:280229/ntbt"} +xref: icd11.foundation:1751389523 {source="MONDO:equivalentTo"} xref: Orphanet:280229 {source="MONDO:equivalentTo"} xref: UMLS:CN202706 {source="MONDO:equivalentTo"} is_a: MONDO:0010714 {source="Orphanet:280229"} ! Pelizeaus-Merzbacher spectrum disorder @@ -369977,6 +372535,7 @@ synonym: "Pelizaeus-Merzbacher disease, null syndrome" EXACT [Orphanet:280234] synonym: "PLP1 null syndrome" EXACT [Orphanet:280234] xref: GARD:17292 {source="Orphanet:280234"} xref: ICD10CM:E75.2 {source="Orphanet:280234", source="Orphanet:280234/attributed", source="Orphanet:280234/ntbt"} +xref: icd11.foundation:1663254692 {source="MONDO:equivalentTo"} xref: Orphanet:280234 {source="MONDO:equivalentTo"} xref: UMLS:CN202707 {source="MONDO:equivalentTo"} is_a: MONDO:0010714 {source="Orphanet:280234"} ! Pelizeaus-Merzbacher spectrum disorder @@ -369993,6 +372552,7 @@ subset: rare synonym: "PMLD" EXACT ABBREVIATION [Orphanet:280270] xref: GARD:12300 {source="Orphanet:280270"} xref: ICD10CM:E75.2 {source="Orphanet:280270", source="Orphanet:280270/attributed", source="Orphanet:280270/ntbt"} +xref: icd11.foundation:1101042369 {source="MONDO:equivalentTo"} xref: icd11.foundation:1101042369 {source="Orphanet:280270", source="MONDO:equivalentTo"} xref: Orphanet:280270 {source="MONDO:equivalentTo"} xref: SCTID:717042001 {source="MONDO:equivalentTo"} @@ -370122,6 +372682,7 @@ subset: orphanet_rare {source="Orphanet:280397"} subset: rare xref: GARD:21084 {source="Orphanet:280397"} xref: ICD10CM:A81.8 {source="Orphanet:280397", source="Orphanet:280397/ntbt"} +xref: icd11.foundation:1297025427 {source="MONDO:equivalentTo"} xref: Orphanet:280397 {source="MONDO:equivalentTo"} xref: SCTID:721219005 {source="MONDO:equivalentTo"} xref: UMLS:C4303482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -370199,6 +372760,7 @@ subset: orphanet_rare {source="Orphanet:280598"} subset: rare xref: GARD:11010 {source="Orphanet:280598"} xref: ICD10CM:G60.0 {source="Orphanet:280598/attributed", source="Orphanet:280598/ntbt", source="Orphanet:280598"} +xref: icd11.foundation:691133799 {source="MONDO:equivalentTo"} xref: Orphanet:280598 {source="MONDO:equivalentTo"} xref: UMLS:C5190690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease @@ -370237,6 +372799,7 @@ subset: rare synonym: "FPHH" EXACT ABBREVIATION [Orphanet:280628] xref: GARD:17298 {source="Orphanet:280628"} xref: ICD10CM:L81.8 {source="Orphanet:280628/attributed", source="Orphanet:280628/ntbt", source="Orphanet:280628"} +xref: icd11.foundation:1229773662 {source="MONDO:equivalentTo"} xref: Orphanet:280628 {source="MONDO:equivalentTo"} xref: UMLS:C1840392 {source="Orphanet:280628"} is_a: MONDO:0007771 ! hyperpigmentation with or without hypopigmentation, familial progressive @@ -370291,6 +372854,7 @@ subset: rare synonym: "CCV" EXACT ABBREVIATION [Orphanet:280779] synonym: "cutaneus colagenous vasculopathy" RELATED [GARD:0012428] xref: GARD:12428 {source="Orphanet:280779"} +xref: icd11.foundation:878108553 {source="MONDO:equivalentTo"} xref: Orphanet:280779 {source="MONDO:equivalentTo"} xref: SCTID:718634003 {source="MONDO:equivalentTo"} xref: UMLS:C4305323 {source="MONDO:equivalentTo"} @@ -370308,6 +372872,7 @@ subset: rare synonym: "bullous DCM" EXACT [Orphanet:280785] xref: GARD:21088 {source="Orphanet:280785"} xref: ICD10CM:Q82.2 {source="Orphanet:280785/ntbt", source="Orphanet:280785"} +xref: icd11.foundation:227748867 {source="MONDO:equivalentTo"} xref: Orphanet:280785 {source="MONDO:equivalentTo"} is_a: MONDO:0019315 {source="Orphanet:280785"} ! diffuse cutaneous mastocytosis @@ -370384,6 +372949,7 @@ synonym: "congenital cystic adenomatous malformation of the lung type 0" EXACT [ synonym: "CPAM type 0" EXACT [Orphanet:280827] xref: GARD:21093 {source="Orphanet:280827"} xref: ICD10CM:Q33.0 {source="Orphanet:280827/ntbt", source="Orphanet:280827"} +xref: icd11.foundation:1763273166 {source="MONDO:equivalentTo"} xref: Orphanet:280827 {source="MONDO:equivalentTo"} is_a: MONDO:0016580 {source="Orphanet:280827"} ! congenital pulmonary airway malformation @@ -370402,6 +372968,7 @@ synonym: "congenital cystic disease of the lung type 1" EXACT [Orphanet:280832] synonym: "CPAM type 1" EXACT [Orphanet:280832] xref: GARD:21094 {source="Orphanet:280832"} xref: ICD10CM:Q33.0 {source="Orphanet:280832/ntbt", source="Orphanet:280832"} +xref: icd11.foundation:1455719613 {source="MONDO:equivalentTo"} xref: Orphanet:280832 {source="MONDO:equivalentTo"} is_a: MONDO:0016580 {source="Orphanet:280832"} ! congenital pulmonary airway malformation relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -370422,6 +372989,7 @@ synonym: "congenital cystic disease of the lung type 2" EXACT [Orphanet:280840] synonym: "CPAM type 2" EXACT [Orphanet:280840] xref: GARD:21095 {source="Orphanet:280840"} xref: ICD10CM:Q33.0 {source="Orphanet:280840/ntbt", source="Orphanet:280840"} +xref: icd11.foundation:1921224131 {source="MONDO:equivalentTo"} xref: Orphanet:280840 {source="MONDO:equivalentTo"} is_a: MONDO:0016580 {source="Orphanet:280840"} ! congenital pulmonary airway malformation @@ -370440,6 +373008,7 @@ synonym: "congenital cystic disease of the lung type 3" EXACT [Orphanet:280847] synonym: "CPAM type 3" EXACT [Orphanet:280847] xref: GARD:21096 {source="Orphanet:280847"} xref: ICD10CM:Q33.0 {source="Orphanet:280847", source="Orphanet:280847/ntbt"} +xref: icd11.foundation:1342201768 {source="MONDO:equivalentTo"} xref: Orphanet:280847 {source="MONDO:equivalentTo"} is_a: MONDO:0016580 {source="Orphanet:280847"} ! congenital pulmonary airway malformation @@ -370456,6 +373025,7 @@ synonym: "congenital cystic adenomatous malformation of the lung type 4" EXACT [ synonym: "CPAM type 4" EXACT [Orphanet:280854] xref: GARD:21097 {source="Orphanet:280854"} xref: ICD10CM:Q33.0 {source="Orphanet:280854/ntbt", source="Orphanet:280854"} +xref: icd11.foundation:1737719514 {source="MONDO:equivalentTo"} xref: Orphanet:280854 {source="MONDO:equivalentTo"} is_a: MONDO:0016580 {source="Orphanet:280854"} ! congenital pulmonary airway malformation @@ -370492,6 +373062,7 @@ xref: GARD:8577 {source="Orphanet:280898"} xref: HP:0012121 {source="MONDO:otherHierarchy"} xref: ICD10CM:H44.1 {source="Orphanet:280898/ntbt", source="Orphanet:280898"} xref: ICD10CM:H44.11 {source="DOID:12030"} +xref: icd11.foundation:1125547814 {source="MONDO:equivalentTo"} xref: icd11.foundation:1125547814 {source="MONDO:equivalentTo", source="Orphanet:280898"} xref: ICD9:360.12 {source="DOID:12030", source="MONDO:equivalentTo", source="MONDO:i2s", source="MONDO:directSiblingOf"} xref: MedDRA:10033687 {source="Orphanet:280898/e", source="EFO:1001082", source="Orphanet:280898"} @@ -370679,6 +373250,7 @@ synonym: "ichthyosis, congenital, autosomal recessive" EXACT [OMIMPS:242300] synonym: "inherited ichthyosis, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: DOID:0060655 {source="MONDO:equivalentTo"} xref: GARD:21106 {source="Orphanet:281097"} +xref: icd11.foundation:430849255 {source="MONDO:equivalentTo"} xref: icd11.foundation:430849255 {source="Orphanet:281097", source="MONDO:equivalentTo"} xref: OMIMPS:242300 {source="DOID:0060655", source="MONDO:equivalentTo"} xref: Orphanet:281097 {source="DOID:0060655", source="MONDO:equivalentTo"} @@ -370728,6 +373300,7 @@ synonym: "SHCB" EXACT ABBREVIATION [Orphanet:281122] synonym: "SICI" EXACT ABBREVIATION [Orphanet:281122] xref: GARD:17303 {source="Orphanet:281122"} xref: ICD10CM:Q80.2 {source="Orphanet:281122", source="Orphanet:281122/attributed", source="Orphanet:281122/ntbt"} +xref: icd11.foundation:34721911 {source="MONDO:equivalentTo"} xref: MESH:C565473 {source="MONDO:equivalentTo"} xref: Orphanet:281122 {source="MONDO:equivalentTo"} xref: SCTID:718632004 {source="MONDO:equivalentTo"} @@ -370746,6 +373319,7 @@ subset: rare synonym: "acral SHCB" EXACT [Orphanet:281127] xref: GARD:21108 {source="Orphanet:281127"} xref: ICD10CM:Q80.2 {source="Orphanet:281127/attributed", source="Orphanet:281127/ntbt", source="Orphanet:281127"} +xref: icd11.foundation:897773833 {source="MONDO:equivalentTo"} xref: Orphanet:281127 {source="MONDO:equivalentTo"} xref: SCTID:718633009 {source="MONDO:equivalentTo"} is_a: MONDO:0017265 {source="Orphanet:281127"} ! autosomal recessive congenital ichthyosis @@ -370877,6 +373451,7 @@ xref: DOID:9255 {source="MONDO:equivalentTo"} xref: GARD:8436 {source="Orphanet:282"} xref: ICD10CM:G31.0 {source="Orphanet:282", source="Orphanet:282/attributed", source="Orphanet:282/ntbt"} xref: icd11.foundation:831337417 {source="MONDO:equivalentTo", source="Orphanet:282"} +xref: icd11.foundation:831337417 {source="MONDO:equivalentTo"} xref: MedDRA:10068968 {source="Orphanet:282", source="Orphanet:282/e"} xref: MESH:C563003 {source="DOID:9255"} xref: MESH:D057180 {source="MONDO:equivalentTo", source="Orphanet:282", source="Orphanet:282/e"} @@ -370931,6 +373506,7 @@ synonym: "Lloyd's syndrome" EXACT [DOID:14040] xref: DOID:14040 {source="MONDO:equivalentTo"} xref: GARD:21116 {source="Orphanet:282196"} xref: ICD10CM:E31.0 {source="Orphanet:282196/ntbt", source="DOID:14040", source="Orphanet:282196", source="MONDO:equivalentTo"} +xref: icd11.foundation:548357900 {source="MONDO:equivalentTo"} xref: icd11.foundation:548357900 {source="Orphanet:282196", source="MONDO:equivalentTo"} xref: ICD9:258.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016884 {source="DOID:14040"} @@ -371032,6 +373608,7 @@ xref: GARD:207 {source="Orphanet:284"} xref: ICD10CM:B67.5 {source="Orphanet:284/btnt", source="Orphanet:284"} xref: ICD10CM:B67.6 {source="Orphanet:284/btnt", source="Orphanet:284", source="DOID:12148"} xref: ICD10CM:B67.7 {source="Orphanet:284/btnt", source="Orphanet:284", source="DOID:12148"} +xref: icd11.foundation:1407575161 {source="MONDO:equivalentTo"} xref: ICD9:122.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12148"} xref: MedDRA:10053042 {source="Orphanet:284/e", source="Orphanet:284"} xref: MESH:C536591 {source="Orphanet:284/e", source="MONDO:equivalentTo", source="Orphanet:284"} @@ -371113,6 +373690,7 @@ synonym: "Prepenile scrotum" RELATED [GARD:0004273] xref: GARD:4273 {source="Orphanet:2842"} xref: HP:0100600 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q55.8 {source="Orphanet:2842", source="Orphanet:2842/ntbt"} +xref: icd11.foundation:1417779551 {source="MONDO:equivalentTo"} xref: MedDRA:10067287 {source="Orphanet:2842", source="Orphanet:2842/e"} xref: MESH:C536650 {source="MONDO:equivalentTo", source="Orphanet:2842", source="Orphanet:2842/e"} xref: NCIT:C99010 {source="MONDO:equivalentTo"} @@ -371244,6 +373822,7 @@ subset: rare synonym: "RCVS" EXACT ABBREVIATION [Orphanet:284388] xref: GARD:12768 {source="Orphanet:284388"} xref: ICD10CM:I67.8 {source="Orphanet:284388", source="Orphanet:284388/ntbt"} +xref: icd11.foundation:1474881372 {source="MONDO:equivalentTo"} xref: ICD9:437.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:284388 {source="MONDO:equivalentTo"} xref: SCTID:700467001 {source="MONDO:equivalentTo"} @@ -371346,6 +373925,7 @@ subset: orphanet_rare {source="Orphanet:284448"} subset: rare synonym: "CLIPPERS" EXACT [Orphanet:284448] xref: GARD:10779 {source="Orphanet:284448"} +xref: icd11.foundation:913443626 {source="MONDO:equivalentTo"} xref: Orphanet:284448 {source="MONDO:equivalentTo"} xref: UMLS:C3854437 {source="MONDO:equivalentTo", source="Orphanet:284448"} is_a: MONDO:0005071 {source="MONDO:0015916-obsoleted"} ! nervous system disorder @@ -371361,6 +373941,7 @@ subset: orphanet_rare {source="Orphanet:284454"} subset: rare synonym: "AZOOR" EXACT ABBREVIATION [Orphanet:284454] xref: GARD:8640 {source="Orphanet:284454"} +xref: icd11.foundation:2011657601 {source="MONDO:equivalentTo"} xref: ICD9:362.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538223 {source="MONDO:equivalentTo"} xref: Orphanet:284454 {source="MONDO:equivalentTo"} @@ -371461,6 +374042,7 @@ xref: DOID:0050633 {source="MONDO:equivalentTo"} xref: GARD:21124 {source="Orphanet:284804"} xref: HP:0001107 {source="MONDO:otherHierarchy"} xref: ICD10CM:E70.3 {source="Orphanet:284804", source="Orphanet:284804/ntbt", source="Orphanet:284804/inclusion"} +xref: icd11.foundation:1147926040 {source="MONDO:equivalentTo"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10065276 {source="Orphanet:284804", source="Orphanet:284804/e"} xref: MESH:D016117 {source="MONDO:equivalentTo"} @@ -371562,6 +374144,7 @@ subset: rare synonym: "neonatal MFS" EXACT [Orphanet:284979] xref: GARD:21128 {source="Orphanet:284979"} xref: ICD10CM:Q87.4 {source="Orphanet:284979/attributed", source="Orphanet:284979/ntbt", source="Orphanet:284979"} +xref: icd11.foundation:1102890898 {source="MONDO:equivalentTo"} xref: Orphanet:284979 {source="MONDO:equivalentTo"} xref: SCTID:763839005 {source="MONDO:equivalentTo"} xref: UMLS:C4016054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -371615,6 +374198,7 @@ synonym: "XX gonodal dysgenesis-deafness syndrome" EXACT [Orphanet:2855] xref: DOID:0050857 {source="MONDO:equivalentTo"} xref: GARD:2542 {source="Orphanet:2855"} xref: ICD10CM:Q87.8 {source="Orphanet:2855", source="Orphanet:2855/attributed", source="Orphanet:2855/ntbt"} +xref: icd11.foundation:256968598 {source="MONDO:equivalentTo"} xref: NORD:2031 {source="MONDO:NORD"} xref: OMIMPS:233400 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:2855 {source="MONDO:equivalentTo", source="DOID:0050857"} @@ -371671,6 +374255,7 @@ synonym: "vascular Ehlers-Danlos syndrome" RELATED [GARD:0002082] synonym: "vEDS" RELATED [GARD:0002082] xref: GARD:2082 {source="Orphanet:286"} xref: ICD10CM:Q79.6 {source="Orphanet:286/attributed", source="Orphanet:286/ntbt", source="Orphanet:286"} +xref: icd11.foundation:1202686415 {source="MONDO:equivalentTo"} xref: NCIT:C125699 {source="MONDO:equivalentTo"} xref: Orphanet:286 {source="MONDO:equivalentTo"} xref: SCTID:17025000 {source="MONDO:equivalentTo"} @@ -371733,6 +374318,7 @@ synonym: "organoid nevus with sebaceous differentiation, a speckled-lentiginous synonym: "Phacomatosis pigmentokeratotica" RELATED [GARD:0004311] xref: GARD:4311 {source="Orphanet:2874"} xref: ICD10CM:Q85.8 {source="Orphanet:2874/attributed", source="Orphanet:2874/ntbt", source="Orphanet:2874"} +xref: icd11.foundation:960559196 {source="MONDO:equivalentTo"} xref: MESH:C537893 {source="Orphanet:2874", source="MONDO:equivalentTo", source="Orphanet:2874/e"} xref: Orphanet:2874 {source="MONDO:equivalentTo"} xref: SCTID:723455009 {source="MONDO:equivalentTo"} @@ -371760,6 +374346,7 @@ synonym: "port-wine stain with oculocutaneous melanosis" EXACT [] synonym: "PPv" RELATED [GARD:0004312] xref: GARD:4312 {source="Orphanet:2875"} xref: ICD10CM:Q85.8 {source="Orphanet:2875", source="Orphanet:2875/attributed", source="Orphanet:2875/ntbt"} +xref: icd11.foundation:1768130414 {source="MONDO:equivalentTo"} xref: ICD9:709.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537894 {source="MONDO:equivalentTo"} xref: Orphanet:2875 {source="MONDO:equivalentTo"} @@ -371790,6 +374377,7 @@ xref: DOID:2373 {source="MONDO:equivalentTo"} xref: GARD:6621 {source="Orphanet:288"} xref: ICD10CM:D58.1 {source="Orphanet:288/specific", source="DOID:2373", source="Orphanet:288/e", source="MONDO:equivalentTo", source="Orphanet:288"} xref: icd11.foundation:679955609 {source="MONDO:equivalentTo", source="Orphanet:288"} +xref: icd11.foundation:679955609 {source="MONDO:equivalentTo"} xref: ICD9:282.1 {source="DOID:2373"} xref: MedDRA:10014490 {source="Orphanet:288/e", source="Orphanet:288"} xref: MESH:D004612 {source="DOID:2373", source="Orphanet:288/e", source="MONDO:equivalentTo", source="Orphanet:288"} @@ -371817,6 +374405,7 @@ synonym: "PEPCK deficiency" EXACT [Orphanet:2880] synonym: "phosphoenolpyruvate carboxykinase (GTP) deficiency" EXACT [NCIT:C99015] xref: GARD:16613 {source="Orphanet:2880"} xref: ICD10CM:E74.4 {source="Orphanet:2880", source="Orphanet:2880/ntbt", source="Orphanet:2880/inclusion"} +xref: icd11.foundation:1350463176 {source="MONDO:equivalentTo"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536654 {source="Orphanet:2880", source="MONDO:equivalentTo", source="Orphanet:2880/e"} xref: NCIT:C99015 {source="MONDO:equivalentTo"} @@ -371916,6 +374505,7 @@ subset: rare synonym: "early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation" EXACT CLINGEN_LABEL [] xref: GARD:21134 {source="Orphanet:289266"} xref: ICD10CM:E72.1 {source="Orphanet:289266", source="Orphanet:289266/attributed", source="Orphanet:289266/ntbt"} +xref: icd11.foundation:1655554340 {source="MONDO:equivalentTo"} xref: OMIM:613971 {source="Orphanet:289266", source="MONDO:equivalentObsolete", source="Orphanet:289266/e"} xref: Orphanet:289266 {source="MONDO:equivalentTo"} is_a: MONDO:0020072 {source="Orphanet:289266"} ! childhood-onset epilepsy syndrome @@ -372320,6 +374910,8 @@ synonym: "PLBL" RELATED ABBREVIATION [ONCOTREE:PLBL] xref: DOID:0080779 {source="MONDO:equivalentTo"} xref: GARD:12125 {source="Orphanet:289666"} xref: ICD10CM:C83.3 {source="Orphanet:289666/ntbt", source="Orphanet:289666"} +xref: icd11.foundation:1164634895 {source="MONDO:equivalentTo"} +xref: icd11.foundation:803046659 {source="MONDO:equivalentTo"} xref: icd11.foundation:803046659 {source="Orphanet:289666", source="MONDO:equivalentTo"} xref: ICDO:9684/3 {source="NCIT:C7224"} xref: ICDO:9735/3 {source="NCIT:C7224"} @@ -372361,6 +374953,7 @@ synonym: "hemangiopericytoma" RELATED [NCIT:C50401] synonym: "MPC" RELATED ABBREVIATION [ONCOTREE:MPC] synonym: "solitary myofibroma" EXACT [NCIT:C50401] xref: GARD:21152 {source="Orphanet:289685"} +xref: icd11.foundation:1389541049 {source="MONDO:equivalentTo"} xref: ICDO:8713/1 {source="NCIT:C50401"} xref: MESH:D000077777 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C50401 {source="MONDO:equivalentTo"} @@ -372444,6 +375037,7 @@ synonym: "neonatal NKH" EXACT [Orphanet:289857] synonym: "neonatal non-ketotic hyperglycinemia" EXACT [Orphanet:289857] xref: GARD:17332 {source="Orphanet:289857"} xref: ICD10CM:E72.5 {source="Orphanet:289857", source="Orphanet:289857/attributed", source="Orphanet:289857/ntbt"} +xref: icd11.foundation:414151121 {source="MONDO:equivalentTo"} xref: Orphanet:289857 {source="MONDO:equivalentTo"} xref: UMLS:C0751748 {source="Orphanet:289857"} is_a: MONDO:0011612 {source="Orphanet:289857"} ! glycine encephalopathy @@ -372463,6 +375057,7 @@ synonym: "infantile non-ketotic hyperglycinemia" EXACT [Orphanet:289860] synonym: "infantile onset glycine encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/infantile] xref: GARD:17333 {source="Orphanet:289860"} xref: ICD10CM:E72.5 {source="Orphanet:289860", source="Orphanet:289860/attributed", source="Orphanet:289860/ntbt"} +xref: icd11.foundation:563302182 {source="MONDO:equivalentTo"} xref: Orphanet:289860 {source="MONDO:equivalentTo"} is_a: MONDO:0011612 {source="MONDO:Redundant", source="Orphanet:289860"} ! glycine encephalopathy intersection_of: MONDO:0011612 ! glycine encephalopathy @@ -372548,6 +375143,7 @@ xref: DOID:0060336 {source="MONDO:equivalentTo"} xref: GARD:12966 {source="Orphanet:289902"} xref: ICD10CM:E71.1 {source="DOID:0060336", source="Orphanet:289902/attributed", source="Orphanet:289902/ntbt", source="Orphanet:289902"} xref: ICD10CM:E71.111 {source="DOID:0060336", source="MONDO:equivalentTo"} +xref: icd11.foundation:1008261602 {source="MONDO:equivalentTo"} xref: MESH:C579867 {source="DOID:0060336", source="MONDO:equivalentTo"} xref: NCIT:C98678 {source="MONDO:equivalentTo"} xref: OMIMPS:250950 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} @@ -372600,6 +375196,7 @@ xref: DOID:9228 {source="EFO:0007218", source="MONDO:obsolete"} xref: EFO:0007218 {source="MONDO:equivalentTo"} xref: GARD:4744 {source="Orphanet:290"} xref: ICD10CM:P35.0 {source="Orphanet:290", source="MONDO:equivalentTo", source="Orphanet:290/e"} +xref: icd11.foundation:1059053724 {source="MONDO:equivalentTo"} xref: icd11.foundation:1059053724 {source="Orphanet:290", source="MONDO:equivalentTo"} xref: ICD9:771.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10010618 {source="Orphanet:290", source="Orphanet:290/e"} @@ -372693,6 +375290,7 @@ synonym: "Takatsuki syndrome" EXACT [Orphanet:2905] xref: DOID:14039 {source="MONDO:equivalentTo", source="EFO:1001115"} xref: EFO:1001115 {source="MONDO:equivalentTo"} xref: GARD:7411 {source="Orphanet:2905"} +xref: icd11.foundation:1555299114 {source="MONDO:equivalentTo"} xref: MedDRA:10053869 {source="Orphanet:2905/e", source="EFO:1001115", source="Orphanet:2905"} xref: MESH:D016878 {source="Orphanet:2905/e", source="MONDO:equivalentTo", source="EFO:1001115", source="DOID:14039", source="Orphanet:2905"} xref: NCIT:C80303 {source="MONDO:equivalentTo", source="EFO:1001115", source="MONDO:exact-label-match", source="DOID:14039"} @@ -372720,6 +375318,7 @@ subset: rare synonym: "congenital poikiloderma with bullae, Weary type" EXACT [Orphanet:2907] xref: GARD:18781 {source="Orphanet:2907"} xref: ICD10CM:Q82.8 {source="Orphanet:2907", source="Orphanet:2907/attributed", source="Orphanet:2907/ntbt"} +xref: icd11.foundation:837824031 {source="MONDO:equivalentTo"} xref: Orphanet:2907 {source="MONDO:equivalentTo"} xref: UMLS:C0406556 {source="Orphanet:2907", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2907/e"} is_a: MONDO:0008260 {source="Orphanet:2907"} ! Kindler syndrome @@ -372931,6 +375530,7 @@ synonym: "congenital infection caused by enterovirus" EXACT [] synonym: "mother-to-child transmission of enterovirus infection" EXACT [Orphanet:292] xref: GARD:2130 {source="Orphanet:292"} xref: ICD10CM:P35.8 {source="Orphanet:292", source="Orphanet:292/ntbt"} +xref: icd11.foundation:1981771784 {source="MONDO:equivalentTo"} xref: icd11.foundation:1981771784 {source="MONDO:equivalentTo", source="Orphanet:292"} xref: Orphanet:292 {source="MONDO:equivalentTo"} xref: SCTID:716865000 {source="MONDO:equivalentTo"} @@ -373246,6 +375846,7 @@ synonym: "ES" EXACT ABBREVIATION [NCIT:C3714] xref: DOID:6193 {source="MONDO:equivalentTo"} xref: GARD:10181 {source="Orphanet:293202"} xref: ICD10CM:C49.9 {source="Orphanet:293202/ntbt", source="Orphanet:293202"} +xref: icd11.foundation:1928606236 {source="MONDO:equivalentTo"} xref: ICDO:8804/3 {source="NCIT:C3714"} xref: MedDRA:10015099 {source="Orphanet:293202/e", source="Orphanet:293202"} xref: MESH:D012509 {source="DOID:6193"} @@ -373326,6 +375927,7 @@ subset: rare synonym: "GWCD" EXACT ABBREVIATION [Orphanet:293375] xref: GARD:21167 {source="Orphanet:293375"} xref: ICD10CM:H18.5 {source="Orphanet:293375", source="Orphanet:293375/attributed", source="Orphanet:293375/ntbt"} +xref: icd11.foundation:1667542240 {source="MONDO:equivalentTo"} xref: Orphanet:293375 {source="MONDO:equivalentTo"} xref: SCTID:717286002 {source="MONDO:equivalentTo"} is_a: MONDO:0020212 {source="Orphanet:293375"} ! superficial corneal dystrophy @@ -373343,6 +375945,7 @@ subset: rare synonym: "PDCD" EXACT ABBREVIATION [Orphanet:293462] xref: GARD:21168 {source="Orphanet:293462"} xref: ICD10CM:H18.5 {source="Orphanet:293462", source="Orphanet:293462/attributed", source="Orphanet:293462/ntbt"} +xref: icd11.foundation:2027634766 {source="MONDO:equivalentTo"} xref: ICD9:371.56 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:293462 {source="MONDO:equivalentTo"} xref: SCTID:231934009 {source="MONDO:equivalentTo"} @@ -373450,6 +376053,7 @@ synonym: "oculopalatoskeletal syndrome" EXACT [DOID:0060225] xref: DOID:0060225 {source="MONDO:equivalentTo"} xref: GARD:1118 {source="Orphanet:293843"} xref: ICD10CM:Q87.8 {source="DOID:0060225", source="Orphanet:293843/attributed", source="Orphanet:293843/ntbt", source="Orphanet:293843"} +xref: icd11.foundation:1294329406 {source="MONDO:equivalentTo"} xref: OMIMPS:257920 {source="MONDO:equivalentTo", source="DOID:0060225"} xref: Orphanet:293843 {source="MONDO:equivalentTo", source="DOID:0060225"} xref: SCTID:720756005 {source="MONDO:equivalentTo"} @@ -373699,6 +376303,7 @@ xref: GARD:7430 {source="Orphanet:2940"} xref: HP:0002132 {source="DOID:0060263", source="MONDO:otherHierarchy"} xref: ICD10CM:Q04.6 {source="DOID:0060263", source="Orphanet:2940/ntbt", source="Orphanet:2940", source="Orphanet:2940/index"} xref: icd11.foundation:137059367 {source="Orphanet:2940", source="MONDO:equivalentTo"} +xref: icd11.foundation:137059367 {source="MONDO:equivalentTo"} xref: MedDRA:10036172 {source="Orphanet:2940", source="Orphanet:2940/e"} xref: MESH:D065708 {source="DOID:0060263", source="MONDO:equivalentTo"} xref: Orphanet:2940 {source="DOID:0060263", source="MONDO:equivalentTo"} @@ -373789,6 +376394,7 @@ xref: DOID:0080110 {source="MONDO:equivalentTo"} xref: GARD:21177 {source="Orphanet:294060"} xref: ICD10CM:Q79.8 {source="Orphanet:294060/attributed", source="Orphanet:294060/ntbt", source="Orphanet:294060"} xref: icd11.foundation:834369371 {source="MONDO:equivalentTo", source="Orphanet:294060"} +xref: icd11.foundation:834369371 {source="MONDO:equivalentTo"} xref: ICD9:755.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537377 {source="MONDO:equivalentTo"} xref: NORD:1632 {source="MONDO:NORD"} @@ -373988,6 +376594,7 @@ subset: orphanet_rare {source="Orphanet:294939"} subset: rare synonym: "preaxial polydactyly of hand" EXACT [Orphanet:294939] xref: ICD10CM:Q69.1 {source="Orphanet:294939/attributed", source="Orphanet:294939/ntbt", source="Orphanet:294939"} +xref: icd11.foundation:1066753144 {source="MONDO:equivalentTo"} xref: OMIMPS:174400 {source="MONDO:equivalentTo"} xref: Orphanet:294939 {source="MONDO:equivalentObsolete"} xref: UMLS:C1395852 {source="Orphanet:294939", source="MONDO:notFoundInDiseaseSubset"} @@ -374006,6 +376613,7 @@ subset: orphanet_rare {source="Orphanet:294942"} subset: rare synonym: "postaxial polydactyly of hand" EXACT [Orphanet:294942] xref: ICD10CM:Q69.0 {source="Orphanet:294942/attributed", source="Orphanet:294942/ntbt", source="Orphanet:294942"} +xref: icd11.foundation:1146378807 {source="MONDO:equivalentTo"} xref: Orphanet:294942 {source="MONDO:equivalentObsolete"} xref: SCTID:205131007 {source="MONDO:equivalentTo"} is_a: MONDO:0011348 {source="Orphanet:294942"} ! non-syndromic polydactyly @@ -374135,6 +376743,7 @@ synonym: "popliteal web syndrome" RELATED EXCLUDE [DOID:0060055] synonym: "PPS" EXACT ABBREVIATION [NCIT:C118786] xref: DOID:0060055 {source="MONDO:equivalentTo"} xref: GARD:21189 {source="Orphanet:294963"} +xref: icd11.foundation:543218573 {source="MONDO:equivalentTo"} xref: ICD9:756.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562509 {source="DOID:0060055", source="MONDO:equivalentTo"} xref: NCIT:C118786 {source="DOID:0060055", source="MONDO:equivalentTo"} @@ -374161,6 +376770,7 @@ synonym: "LCCS" EXACT ABBREVIATION [Orphanet:294965] xref: DOID:0060558 {source="MONDO:equivalentTo"} xref: GARD:12643 {source="Orphanet:294965"} xref: ICD10CM:Q68.8 {source="DOID:0060558", source="Orphanet:294965/attributed", source="Orphanet:294965/ntbt", source="Orphanet:294965"} +xref: icd11.foundation:1866017256 {source="MONDO:equivalentTo"} xref: OMIMPS:253310 {source="MONDO:equivalentTo", source="DOID:0060558"} xref: Orphanet:294965 {source="MONDO:equivalentTo", source="DOID:0060558"} xref: UMLS:CN239241 {source="MONDO:equivalentTo"} @@ -374184,6 +376794,7 @@ xref: GARD:21190 {source="Orphanet:294967"} xref: HP:0009812 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q71.0 {source="Orphanet:294967/specific", source="Orphanet:294967/e", source="Orphanet:294967"} xref: icd11.foundation:565435388 {source="MONDO:equivalentTo", source="Orphanet:294967"} +xref: icd11.foundation:565435388 {source="MONDO:equivalentTo"} xref: Orphanet:294967 {source="MONDO:equivalentTo"} xref: SCTID:205306000 {source="MONDO:equivalentTo"} is_a: MONDO:0017419 {source="MONDO:Redundant", source="Orphanet:294967"} ! non-syndromic amelia @@ -374205,6 +376816,7 @@ xref: GARD:21191 {source="Orphanet:294969"} xref: HP:0009818 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q72.0 {source="Orphanet:294969", source="Orphanet:294969/e", source="Orphanet:294969/specific"} xref: icd11.foundation:540310468 {source="Orphanet:294969", source="MONDO:equivalentTo"} +xref: icd11.foundation:540310468 {source="MONDO:equivalentTo"} xref: Orphanet:294969 {source="MONDO:equivalentTo"} xref: SCTID:265798000 {source="MONDO:equivalentTo"} is_a: MONDO:0017419 {source="MONDO:Redundant", source="Orphanet:294969"} ! non-syndromic amelia @@ -374312,6 +376924,7 @@ subset: rare synonym: "radio-ulnar terminal transverse meromelia" EXACT [Orphanet:294979] xref: GARD:21194 {source="Orphanet:294979"} xref: ICD10CM:Q71.2 {source="Orphanet:294979", source="MONDO:equivalentTo", source="Orphanet:294979/e", source="Orphanet:294979/specific"} +xref: icd11.foundation:810894993 {source="MONDO:equivalentTo"} xref: icd11.foundation:810894993 {source="Orphanet:294979", source="MONDO:equivalentTo"} xref: Orphanet:294979 {source="MONDO:equivalentTo"} xref: UMLS:C1306663 {source="Orphanet:294979", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:294979/e"} @@ -374334,6 +376947,7 @@ subset: rare synonym: "tibiofibular terminal transverse meromelia" EXACT [Orphanet:294981] xref: GARD:21195 {source="Orphanet:294981"} xref: ICD10CM:Q72.2 {source="MONDO:equivalentTo", source="Orphanet:294981", source="Orphanet:294981/specific", source="Orphanet:294981/e"} +xref: icd11.foundation:835905199 {source="MONDO:equivalentTo"} xref: icd11.foundation:835905199 {source="MONDO:equivalentTo", source="Orphanet:294981"} xref: Orphanet:294981 {source="MONDO:equivalentTo"} xref: SCTID:278532000 {source="MONDO:equivalentTo"} @@ -374356,6 +376970,7 @@ subset: rare synonym: "congenital absence of hand" EXACT [Orphanet:294983] xref: GARD:21196 {source="Orphanet:294983"} xref: ICD10CM:Q71.3 {source="Orphanet:294983/specific", source="Orphanet:294983", source="Orphanet:294983/e"} +xref: icd11.foundation:1428065029 {source="MONDO:equivalentTo"} xref: icd11.foundation:1428065029 {source="MONDO:equivalentTo", source="Orphanet:294983"} xref: Orphanet:294983 {source="MONDO:equivalentTo"} xref: SCTID:371199008 {source="MONDO:equivalentTo"} @@ -374377,6 +376992,7 @@ synonym: "congenital absence of foot" EXACT [Orphanet:294986] xref: GARD:21197 {source="Orphanet:294986"} xref: ICD10CM:Q72.3 {source="Orphanet:294986/specific", source="Orphanet:294986/e", source="Orphanet:294986"} xref: icd11.foundation:1419324219 {source="MONDO:equivalentTo", source="Orphanet:294986"} +xref: icd11.foundation:1419324219 {source="MONDO:equivalentTo"} xref: Orphanet:294986 {source="MONDO:equivalentTo"} xref: SCTID:371197005 {source="MONDO:equivalentTo"} xref: UMLS:C0265624 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:294986"} @@ -374434,6 +377050,7 @@ synonym: "split hand" EXACT [MONDO:ambiguous] synonym: "split hand (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0001171 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q71.6 {source="Orphanet:294992", source="Orphanet:294992/specific", source="Orphanet:294992/e"} +xref: icd11.foundation:924222970 {source="MONDO:equivalentTo"} xref: Orphanet:294992 {source="MONDO:equivalentObsolete"} is_a: MONDO:0018234 {source="PMID:12668597", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis @@ -374451,6 +377068,7 @@ synonym: "split foot" EXACT [MONDO:ambiguous] synonym: "split foot (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0001839 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q72.7 {source="Orphanet:294994/specific", source="Orphanet:294994", source="Orphanet:294994/e"} +xref: icd11.foundation:1406855248 {source="MONDO:equivalentTo"} xref: Orphanet:294994 {source="MONDO:equivalentObsolete"} xref: SCTID:205358006 {source="MONDO:equivalentTo"} xref: UMLS:C0432028 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:294994", source="Orphanet:294994/e"} @@ -374551,6 +377169,7 @@ synonym: "supernumerary phalanges" EXACT [Orphanet:295002] synonym: "supernumerary phalanx" EXACT [Orphanet:295002] xref: GARD:21199 {source="Orphanet:295002"} xref: ICD10CM:Q74.8 {source="Orphanet:295002", source="Orphanet:295002/attributed", source="Orphanet:295002/ntbt"} +xref: icd11.foundation:177215174 {source="MONDO:equivalentTo"} xref: icd11.foundation:177215174 {source="MONDO:equivalentTo", source="Orphanet:295002"} xref: Orphanet:295002 {source="MONDO:equivalentTo"} xref: SCTID:763535005 {source="MONDO:equivalentTo"} @@ -374571,6 +377190,7 @@ synonym: "mesoaxial polydactyly of fingers" EXACT [Orphanet:295004] synonym: "mirror hand" EXACT [Orphanet:295004] xref: GARD:21200 {source="Orphanet:295004"} xref: ICD10CM:Q69.0 {source="Orphanet:295004", source="Orphanet:295004/attributed", source="Orphanet:295004/ntbt"} +xref: icd11.foundation:243366415 {source="MONDO:equivalentTo"} xref: Orphanet:295004 {source="MONDO:equivalentTo"} xref: SCTID:205130008 {source="MONDO:equivalentTo"} xref: UMLS:C0431903 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:295004", source="Orphanet:295004/e"} @@ -374587,6 +377207,7 @@ synonym: "bifid halluces" EXACT [Orphanet:295006] synonym: "bifid hallux" EXACT [Orphanet:295006] synonym: "preaxial polydactyly of foot" EXACT [Orphanet:295006] xref: ICD10CM:Q69.2 {source="Orphanet:295006/attributed", source="Orphanet:295006/ntbt", source="Orphanet:295006"} +xref: icd11.foundation:1685587490 {source="MONDO:equivalentTo"} xref: Orphanet:295006 {source="MONDO:equivalentObsolete"} xref: SCTID:205132000 {source="MONDO:equivalentTo"} xref: UMLS:C0432036 {source="Orphanet:295006/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:295006"} @@ -374631,6 +377252,7 @@ synonym: "syndactyly, mitten type" EXACT [Orphanet:295012] synonym: "unilateral syndactyly of digits 2-5" EXACT [Orphanet:295012] xref: GARD:21201 {source="Orphanet:295012"} xref: ICD10CM:Q70.1 {source="Orphanet:295012/attributed", source="Orphanet:295012/ntbt", source="Orphanet:295012"} +xref: icd11.foundation:2105806379 {source="MONDO:equivalentTo"} xref: Orphanet:295012 {source="MONDO:equivalentTo"} xref: SCTID:763624007 {source="MONDO:equivalentTo"} xref: UMLS:C4706525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -374751,6 +377373,7 @@ synonym: "Tibio-fibular fusion" EXACT [Orphanet:295028] xref: GARD:21208 {source="Orphanet:295028"} xref: ICD10CM:Q74.2 {source="Orphanet:295028/attributed", source="Orphanet:295028/ntbt", source="Orphanet:295028"} xref: icd11.foundation:1756900121 {source="MONDO:equivalentTo", source="Orphanet:295028"} +xref: icd11.foundation:1756900121 {source="MONDO:equivalentTo"} xref: Orphanet:295028 {source="MONDO:equivalentTo"} xref: SCTID:737581000 {source="MONDO:equivalentTo"} is_a: MONDO:0001411 {source="https://orcid.org/0009-0001-6494-4831"} ! synostosis @@ -374768,6 +377391,7 @@ subset: orphanet_rare {source="Orphanet:295030"} subset: rare xref: GARD:21209 {source="Orphanet:295030"} xref: ICD10CM:Q68.8 {source="Orphanet:295030", source="Orphanet:295030/ntbt", source="Orphanet:295030/inclusion"} +xref: icd11.foundation:1926945459 {source="MONDO:equivalentTo"} xref: icd11.foundation:1926945459 {source="Orphanet:295030", source="MONDO:equivalentTo"} xref: ICD9:755.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:295030 {source="MONDO:equivalentTo"} @@ -374792,6 +377416,7 @@ synonym: "isolated congenital radial head dislocation" RELATED [Orphanet:295032] xref: GARD:21210 {source="Orphanet:295032"} xref: ICD10CM:Q68.8 {source="Orphanet:295032/inclusion", source="Orphanet:295032", source="Orphanet:295032/ntbt"} xref: icd11.foundation:1593186141 {source="Orphanet:295032", source="MONDO:equivalentTo"} +xref: icd11.foundation:1593186141 {source="MONDO:equivalentTo"} xref: Orphanet:295032 {source="MONDO:equivalentTo"} xref: UMLS:C0265561 {source="Orphanet:295032", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:295032/e"} is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis @@ -374812,6 +377437,7 @@ synonym: "congenital knee dislocation (disease)" EXACT [https://orcid.org/0000-0 xref: GARD:21211 {source="Orphanet:295034"} xref: HP:0005191 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q68.2 {source="Orphanet:295034/ntbt", source="Orphanet:295034/inclusion", source="Orphanet:295034"} +xref: icd11.foundation:1229590493 {source="MONDO:equivalentTo"} xref: icd11.foundation:1229590493 {source="Orphanet:295034", source="MONDO:equivalentTo"} xref: ICD9:754.41 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10010520 {source="Orphanet:295034", source="Orphanet:295034/e"} @@ -374837,6 +377463,7 @@ synonym: "congenital patellar dislocation" RELATED [GARD:0009692] xref: GARD:9692 {source="Orphanet:295036"} xref: ICD10CM:Q74.1 {source="Orphanet:295036/inclusion", source="Orphanet:295036", source="Orphanet:295036/ntbt"} xref: icd11.foundation:1383302301 {source="MONDO:equivalentTo", source="Orphanet:295036"} +xref: icd11.foundation:1383302301 {source="MONDO:equivalentTo"} xref: MESH:C538081 {source="MONDO:equivalentTo"} xref: Orphanet:295036 {source="MONDO:equivalentTo"} xref: SCTID:205067002 {source="MONDO:equivalentTo"} @@ -374882,6 +377509,7 @@ xref: GARD:8529 {source="Orphanet:295044"} xref: HP:0100746 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q74.0 {source="Orphanet:295044/attributed", source="Orphanet:295044/ntbt", source="Orphanet:295044"} xref: icd11.foundation:1647254435 {source="Orphanet:295044", source="MONDO:equivalentTo"} +xref: icd11.foundation:1647254435 {source="MONDO:equivalentTo"} xref: MESH:C537720 {source="MONDO:equivalentTo"} xref: Orphanet:295044 {source="MONDO:equivalentTo"} xref: SCTID:297195000 {source="MONDO:equivalentTo"} @@ -374904,6 +377532,7 @@ synonym: "Megalodactyly of the foot" RELATED [GARD:0006951] xref: GARD:6951 {source="Orphanet:295047"} xref: HP:0100747 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q74.2 {source="Orphanet:295047", source="Orphanet:295047/index", source="Orphanet:295047/ntbt"} +xref: icd11.foundation:1196147958 {source="MONDO:equivalentTo"} xref: icd11.foundation:1196147958 {source="MONDO:equivalentTo", source="Orphanet:295047"} xref: MESH:C537719 {source="MONDO:equivalentTo"} xref: Orphanet:295047 {source="MONDO:equivalentTo"} @@ -374921,6 +377550,7 @@ subset: orphanet_rare {source="Orphanet:295049"} subset: rare xref: GARD:21212 {source="Orphanet:295049"} xref: ICD10CM:Q74.0 {source="Orphanet:295049", source="Orphanet:295049/attributed", source="Orphanet:295049/ntbt"} +xref: icd11.foundation:663591902 {source="MONDO:equivalentTo"} xref: icd11.foundation:663591902 {source="MONDO:equivalentTo", source="Orphanet:295049"} xref: Orphanet:295049 {source="MONDO:equivalentTo"} xref: UMLS:C0575518 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:295049", source="Orphanet:295049/e"} @@ -374938,6 +377568,7 @@ subset: orphanet_rare {source="Orphanet:295051"} subset: rare xref: GARD:21213 {source="Orphanet:295051"} xref: ICD10CM:Q74.2 {source="Orphanet:295051", source="Orphanet:295051/attributed", source="Orphanet:295051/ntbt"} +xref: icd11.foundation:601080430 {source="MONDO:equivalentTo"} xref: icd11.foundation:601080430 {source="Orphanet:295051", source="MONDO:equivalentTo"} xref: Orphanet:295051 {source="MONDO:equivalentTo"} is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis @@ -374951,6 +377582,7 @@ subset: ordo_clinical_subtype {source="Orphanet:295053"} subset: orphanet_rare {source="Orphanet:295053"} subset: rare xref: ICD10CM:Q71.0 {source="Orphanet:295053/attributed", source="Orphanet:295053/ntbt", source="Orphanet:295053"} +xref: icd11.foundation:790781203 {source="MONDO:equivalentTo"} xref: Orphanet:295053 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017437 {source="Orphanet:295053"} ! amelia of upper limb @@ -374961,6 +377593,7 @@ subset: ordo_clinical_subtype {source="Orphanet:295055"} subset: orphanet_rare {source="Orphanet:295055"} subset: rare xref: ICD10CM:Q71.0 {source="Orphanet:295055/attributed", source="Orphanet:295055/ntbt", source="Orphanet:295055"} +xref: icd11.foundation:587439983 {source="MONDO:equivalentTo"} xref: Orphanet:295055 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017437 {source="Orphanet:295055"} ! amelia of upper limb @@ -374971,6 +377604,7 @@ subset: ordo_clinical_subtype {source="Orphanet:295057"} subset: orphanet_rare {source="Orphanet:295057"} subset: rare xref: ICD10CM:Q72.0 {source="Orphanet:295057", source="Orphanet:295057/attributed", source="Orphanet:295057/ntbt"} +xref: icd11.foundation:1342789404 {source="MONDO:equivalentTo"} xref: Orphanet:295057 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017438 {source="Orphanet:295057"} ! amelia of lower limb @@ -374981,6 +377615,7 @@ subset: ordo_clinical_subtype {source="Orphanet:295059"} subset: orphanet_rare {source="Orphanet:295059"} subset: rare xref: ICD10CM:Q72.0 {source="Orphanet:295059", source="Orphanet:295059/attributed", source="Orphanet:295059/ntbt"} +xref: icd11.foundation:1627185647 {source="MONDO:equivalentTo"} xref: Orphanet:295059 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017438 {source="Orphanet:295059"} ! amelia of lower limb @@ -375037,6 +377672,7 @@ subset: orphanet_rare {source="Orphanet:295069"} subset: rare synonym: "radial longitidinal meromelia, unilateral" EXACT [Orphanet:295069] xref: ICD10CM:Q71.4 {source="Orphanet:295069", source="Orphanet:295069/attributed", source="Orphanet:295069/ntbt"} +xref: icd11.foundation:1956537587 {source="MONDO:equivalentTo"} xref: Orphanet:295069 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019671 {source="Orphanet:295069"} ! radial hemimelia @@ -375048,6 +377684,7 @@ subset: orphanet_rare {source="Orphanet:295071"} subset: rare synonym: "radial longitidinal meromelia, bilateral" EXACT [Orphanet:295071] xref: ICD10CM:Q71.4 {source="Orphanet:295071/attributed", source="Orphanet:295071/ntbt", source="Orphanet:295071"} +xref: icd11.foundation:1701238542 {source="MONDO:equivalentTo"} xref: Orphanet:295071 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019671 {source="Orphanet:295071"} ! radial hemimelia @@ -375059,6 +377696,7 @@ subset: orphanet_rare {source="Orphanet:295073"} subset: rare synonym: "ulnar longitudinal meromelia, bilateral" EXACT [Orphanet:295073] xref: ICD10CM:Q71.5 {source="Orphanet:295073", source="Orphanet:295073/attributed", source="Orphanet:295073/ntbt"} +xref: icd11.foundation:837973744 {source="MONDO:equivalentTo"} xref: Orphanet:295073 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019670 {source="Orphanet:295073"} ! ulnar hemimelia @@ -375070,6 +377708,7 @@ subset: orphanet_rare {source="Orphanet:295075"} subset: rare synonym: "ulnar longitudinal meromelia, unilateral" EXACT [Orphanet:295075] xref: ICD10CM:Q71.5 {source="Orphanet:295075/attributed", source="Orphanet:295075/ntbt", source="Orphanet:295075"} +xref: icd11.foundation:1826480139 {source="MONDO:equivalentTo"} xref: Orphanet:295075 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019670 {source="Orphanet:295075"} ! ulnar hemimelia @@ -375081,6 +377720,7 @@ subset: orphanet_rare {source="Orphanet:295077"} subset: rare synonym: "tibial longitudinal meromelia, unilateral" EXACT [Orphanet:295077] xref: ICD10CM:Q72.5 {source="Orphanet:295077/attributed", source="Orphanet:295077/ntbt", source="Orphanet:295077"} +xref: icd11.foundation:863808263 {source="MONDO:equivalentTo"} xref: Orphanet:295077 {source="MONDO:equivalentObsolete"} xref: UMLS:CN203228 {source="MONDO:equivalentTo"} is_a: MONDO:0010144 {source="Orphanet:295077"} ! tibial hemimelia @@ -375093,6 +377733,7 @@ subset: orphanet_rare {source="Orphanet:295079"} subset: rare synonym: "tibial longitudinal meromelia, bilateral" EXACT [Orphanet:295079] xref: ICD10CM:Q72.5 {source="Orphanet:295079", source="Orphanet:295079/attributed", source="Orphanet:295079/ntbt"} +xref: icd11.foundation:1562926182 {source="MONDO:equivalentTo"} xref: Orphanet:295079 {source="MONDO:equivalentObsolete"} xref: UMLS:CN203229 {source="MONDO:equivalentTo"} is_a: MONDO:0010144 {source="Orphanet:295079"} ! tibial hemimelia @@ -375105,6 +377746,7 @@ subset: orphanet_rare {source="Orphanet:295081"} subset: rare synonym: "fibular longitudinal meromelia, unilateral" EXACT [Orphanet:295081] xref: ICD10CM:Q72.6 {source="Orphanet:295081/attributed", source="Orphanet:295081/ntbt", source="Orphanet:295081"} +xref: icd11.foundation:1359584794 {source="MONDO:equivalentTo"} xref: Orphanet:295081 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019672 {source="Orphanet:295081"} ! fibular hemimelia @@ -375116,6 +377758,7 @@ subset: orphanet_rare {source="Orphanet:295083"} subset: rare synonym: "fibular longitudinal meromelia, bilateral" EXACT [Orphanet:295083] xref: ICD10CM:Q72.6 {source="Orphanet:295083/attributed", source="Orphanet:295083/ntbt", source="Orphanet:295083"} +xref: icd11.foundation:1479927692 {source="MONDO:equivalentTo"} xref: Orphanet:295083 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019672 {source="Orphanet:295083"} ! fibular hemimelia @@ -375177,6 +377820,7 @@ subset: orphanet_rare {source="Orphanet:295093"} subset: rare synonym: "radio-ulnar terminal transverse meromelia, unilateral" EXACT [Orphanet:295093] xref: ICD10CM:Q71.2 {source="Orphanet:295093/attributed", source="Orphanet:295093/ntbt", source="Orphanet:295093"} +xref: icd11.foundation:2019491585 {source="MONDO:equivalentTo"} xref: Orphanet:295093 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017443 {source="Orphanet:295093"} ! congenital absence of both forearm and hand relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -375193,6 +377837,7 @@ subset: rare synonym: "radio-ulnar terminal transverse meromelia, bilateral" EXACT [Orphanet:295095] xref: ICD10CM:Q71.2 {source="Orphanet:295095", source="Orphanet:295095/attributed", source="Orphanet:295095/ntbt"} xref: ICD10CM:Q71.23 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1524444518 {source="MONDO:equivalentTo"} xref: Orphanet:295095 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017443 {source="ICD10CM:Q71.23", source="Orphanet:295095"} ! congenital absence of both forearm and hand relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -375206,6 +377851,7 @@ subset: orphanet_rare {source="Orphanet:295097"} subset: rare synonym: "tibiofibular terminal transverse meromelia, unilateral" EXACT [Orphanet:295097] xref: ICD10CM:Q72.2 {source="Orphanet:295097/attributed", source="Orphanet:295097/ntbt", source="Orphanet:295097"} +xref: icd11.foundation:608099172 {source="MONDO:equivalentTo"} xref: Orphanet:295097 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017444 {source="Orphanet:295097"} ! congenital absence of both lower leg and foot relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -375220,6 +377866,7 @@ subset: rare synonym: "tibiofibular terminal transverse meromelia, bilateral" EXACT [Orphanet:295099] xref: ICD10CM:Q72.2 {source="Orphanet:295099/attributed", source="Orphanet:295099/ntbt", source="Orphanet:295099"} xref: ICD10CM:Q72.23 {source="MONDO:equivalentTo"} +xref: icd11.foundation:113051911 {source="MONDO:equivalentTo"} xref: Orphanet:295099 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017444 {source="ICD10CM:Q72.23", source="Orphanet:295099"} ! congenital absence of both lower leg and foot relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -375233,6 +377880,7 @@ subset: orphanet_rare {source="Orphanet:295101"} subset: rare synonym: "congenital absence of hand, unilateral" EXACT [Orphanet:295101] xref: ICD10CM:Q71.3 {source="Orphanet:295101", source="Orphanet:295101/attributed", source="Orphanet:295101/ntbt"} +xref: icd11.foundation:1906312110 {source="MONDO:equivalentTo"} xref: Orphanet:295101 {source="MONDO:equivalentObsolete"} xref: UMLS:C0685393 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:295101", source="Orphanet:295101/e"} is_a: MONDO:0017445 {source="Orphanet:295101"} ! acheiria @@ -375246,6 +377894,7 @@ subset: orphanet_rare {source="Orphanet:295103"} subset: rare synonym: "congenital absence of hand, bilateral" EXACT [Orphanet:295103] xref: ICD10CM:Q71.3 {source="Orphanet:295103", source="Orphanet:295103/attributed", source="Orphanet:295103/ntbt"} +xref: icd11.foundation:1430605018 {source="MONDO:equivalentTo"} xref: Orphanet:295103 {source="MONDO:equivalentObsolete"} xref: SCTID:371189003 {source="MONDO:equivalentTo"} xref: UMLS:C0685394 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:295103", source="Orphanet:295103/e"} @@ -375259,6 +377908,7 @@ subset: orphanet_rare {source="Orphanet:295105"} subset: rare synonym: "congenital absence of foot, unilateral" EXACT [Orphanet:295105] xref: ICD10CM:Q72.3 {source="Orphanet:295105/attributed", source="Orphanet:295105/ntbt", source="Orphanet:295105"} +xref: icd11.foundation:1499762342 {source="MONDO:equivalentTo"} xref: Orphanet:295105 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017446 {source="Orphanet:295105"} ! apodia @@ -375270,6 +377920,7 @@ subset: orphanet_rare {source="Orphanet:295107"} subset: rare synonym: "congenital absence of foot, bilateral" EXACT [Orphanet:295107] xref: ICD10CM:Q72.3 {source="Orphanet:295107/attributed", source="Orphanet:295107/ntbt", source="Orphanet:295107"} +xref: icd11.foundation:1292290082 {source="MONDO:equivalentTo"} xref: Orphanet:295107 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017446 {source="Orphanet:295107"} ! apodia @@ -375345,6 +377996,7 @@ subset: ordo_clinical_subtype {source="Orphanet:295120"} subset: orphanet_rare {source="Orphanet:295120"} subset: rare xref: ICD10CM:Q71.6 {source="Orphanet:295120", source="Orphanet:295120/attributed", source="Orphanet:295120/ntbt"} +xref: icd11.foundation:1675694993 {source="MONDO:equivalentTo"} xref: Orphanet:295120 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017449 {source="Orphanet:295120"} ! split hand @@ -375357,6 +378009,7 @@ subset: ordo_clinical_subtype {source="Orphanet:295122"} subset: orphanet_rare {source="Orphanet:295122"} subset: rare xref: ICD10CM:Q71.6 {source="Orphanet:295122/attributed", source="Orphanet:295122/ntbt", source="Orphanet:295122"} +xref: icd11.foundation:1096991220 {source="MONDO:equivalentTo"} xref: Orphanet:295122 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017449 {source="Orphanet:295122"} ! split hand @@ -375367,6 +378020,7 @@ subset: ordo_clinical_subtype {source="Orphanet:295124"} subset: orphanet_rare {source="Orphanet:295124"} subset: rare xref: ICD10CM:Q72.7 {source="Orphanet:295124", source="Orphanet:295124/attributed", source="Orphanet:295124/ntbt"} +xref: icd11.foundation:1995563146 {source="MONDO:equivalentTo"} xref: Orphanet:295124 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017450 {source="Orphanet:295124"} ! split foot @@ -375378,6 +378032,7 @@ subset: orphanet_rare {source="Orphanet:295126"} subset: rare xref: ICD10CM:Q72.7 {source="Orphanet:295126", source="Orphanet:295126/attributed", source="Orphanet:295126/ntbt"} xref: ICD10CM:Q72.73 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1227623929 {source="MONDO:equivalentTo"} xref: Orphanet:295126 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017450 {source="Orphanet:295126"} ! split foot @@ -375390,6 +378045,7 @@ subset: orphanet_rare {source="Orphanet:295128"} subset: rare synonym: "short fingers, unilateral" EXACT [Orphanet:295128] xref: ICD10CM:Q71.8 {source="Orphanet:295128", source="Orphanet:295128/attributed", source="Orphanet:295128/ntbt"} +xref: icd11.foundation:825108601 {source="MONDO:equivalentTo"} xref: Orphanet:295128 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017451 {source="Orphanet:295128"} ! non-syndromic brachydactyly of fingers @@ -375401,6 +378057,7 @@ subset: orphanet_rare {source="Orphanet:295130"} subset: rare synonym: "short fingers, bilateral" EXACT [Orphanet:295130] xref: ICD10CM:Q71.8 {source="Orphanet:295130/attributed", source="Orphanet:295130/ntbt", source="Orphanet:295130"} +xref: icd11.foundation:412618992 {source="MONDO:equivalentTo"} xref: Orphanet:295130 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017451 {source="Orphanet:295130"} ! non-syndromic brachydactyly of fingers @@ -375412,6 +378069,7 @@ subset: orphanet_rare {source="Orphanet:295132"} subset: rare synonym: "short toes, unilateral" EXACT [Orphanet:295132] xref: ICD10CM:Q72.8 {source="Orphanet:295132/attributed", source="Orphanet:295132/ntbt", source="Orphanet:295132"} +xref: icd11.foundation:714196201 {source="MONDO:equivalentTo"} xref: Orphanet:295132 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017452 {source="Orphanet:295132"} ! non-syndromic brachydactyly of toes @@ -375423,6 +378081,7 @@ subset: orphanet_rare {source="Orphanet:295134"} subset: rare synonym: "short toes, bilateral" EXACT [Orphanet:295134] xref: ICD10CM:Q72.8 {source="Orphanet:295134", source="Orphanet:295134/attributed", source="Orphanet:295134/ntbt"} +xref: icd11.foundation:357312922 {source="MONDO:equivalentTo"} xref: Orphanet:295134 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017452 {source="Orphanet:295134"} ! non-syndromic brachydactyly of toes @@ -375460,6 +378119,7 @@ synonym: "hyperphalangy in digits 2-5" EXACT [Orphanet:295140] synonym: "supernumerary phalanges, unilateral" EXACT [Orphanet:295140] synonym: "supernumerary phalanx, unilateral" EXACT [Orphanet:295140] xref: ICD10CM:Q74.8 {source="Orphanet:295140", source="Orphanet:295140/attributed", source="Orphanet:295140/ntbt"} +xref: icd11.foundation:1023621052 {source="MONDO:equivalentTo"} xref: Orphanet:295140 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017455 {source="Orphanet:295140"} ! hyperphalangy @@ -375473,6 +378133,7 @@ subset: rare synonym: "supernumerary phalanges, bilateral" EXACT [Orphanet:295142] synonym: "supernumerary phalanx, bilateral" EXACT [Orphanet:295142] xref: ICD10CM:Q74.8 {source="Orphanet:295142", source="Orphanet:295142/attributed", source="Orphanet:295142/ntbt"} +xref: icd11.foundation:528541151 {source="MONDO:equivalentTo"} xref: Orphanet:295142 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017455 {source="Orphanet:295142"} ! hyperphalangy @@ -375511,6 +378172,7 @@ subset: rare synonym: "preaxial polydactyly type 2, unilateral" EXACT [Orphanet:295148] synonym: "unilateral PPD2" EXACT [Orphanet:295148] xref: ICD10CM:Q69.1 {source="Orphanet:295148", source="Orphanet:295148/attributed", source="Orphanet:295148/ntbt"} +xref: icd11.foundation:71240015 {source="MONDO:equivalentTo"} xref: Orphanet:295148 {source="MONDO:equivalentObsolete"} xref: UMLS:CN203256 {source="MONDO:equivalentTo"} is_a: MONDO:0008270 {source="Orphanet:295148"} ! polydactyly of a triphalangeal thumb @@ -375525,6 +378187,7 @@ subset: rare synonym: "bilateral PPD2" EXACT [Orphanet:295150] synonym: "preaxial polydactyly type 2, bilateral" EXACT [Orphanet:295150] xref: ICD10CM:Q69.1 {source="Orphanet:295150", source="Orphanet:295150/attributed", source="Orphanet:295150/ntbt"} +xref: icd11.foundation:866920497 {source="MONDO:equivalentTo"} xref: Orphanet:295150 {source="MONDO:equivalentObsolete"} xref: UMLS:CN203257 {source="MONDO:equivalentTo"} is_a: MONDO:0008270 {source="Orphanet:295150"} ! polydactyly of a triphalangeal thumb @@ -375538,6 +378201,7 @@ subset: orphanet_rare {source="Orphanet:295152"} subset: rare synonym: "preaxial polydactyly type 3, unilateral" EXACT [Orphanet:295152] xref: ICD10CM:Q69.0 {source="Orphanet:295152/attributed", source="Orphanet:295152/ntbt", source="Orphanet:295152"} +xref: icd11.foundation:734031453 {source="MONDO:equivalentTo"} xref: Orphanet:295152 {source="MONDO:equivalentObsolete"} xref: UMLS:CN203258 {source="MONDO:equivalentTo"} is_a: MONDO:0008271 {source="Orphanet:295152"} ! polydactyly of an index finger @@ -375550,6 +378214,7 @@ subset: orphanet_rare {source="Orphanet:295154"} subset: rare synonym: "preaxial polydactyly type 3, bilateral" EXACT [Orphanet:295154] xref: ICD10CM:Q69.0 {source="Orphanet:295154/attributed", source="Orphanet:295154/ntbt", source="Orphanet:295154"} +xref: icd11.foundation:806174152 {source="MONDO:equivalentTo"} xref: Orphanet:295154 {source="MONDO:equivalentObsolete"} xref: UMLS:CN203259 {source="MONDO:equivalentTo"} is_a: MONDO:0008271 {source="Orphanet:295154"} ! polydactyly of an index finger @@ -375562,6 +378227,7 @@ subset: orphanet_rare {source="Orphanet:295159"} subset: rare synonym: "preaxial polydactyly type 4, unilateral" EXACT [Orphanet:295159] xref: ICD10CM:Q70.4 {source="Orphanet:295159", source="Orphanet:295159/attributed", source="Orphanet:295159/ntbt"} +xref: icd11.foundation:127802550 {source="MONDO:equivalentTo"} xref: Orphanet:295159 {source="MONDO:equivalentObsolete"} xref: UMLS:CN203260 {source="MONDO:equivalentTo"} is_a: MONDO:0008272 {source="Orphanet:295159"} ! polysyndactyly 4 @@ -375574,6 +378240,7 @@ subset: orphanet_rare {source="Orphanet:295161"} subset: rare synonym: "preaxial polydactyly type 4, bilateral" EXACT [Orphanet:295161] xref: ICD10CM:Q70.4 {source="Orphanet:295161", source="Orphanet:295161/attributed", source="Orphanet:295161/ntbt"} +xref: icd11.foundation:622710483 {source="MONDO:equivalentTo"} xref: Orphanet:295161 {source="MONDO:equivalentObsolete"} xref: UMLS:CN203261 {source="MONDO:equivalentTo"} is_a: MONDO:0008272 {source="Orphanet:295161"} ! polysyndactyly 4 @@ -375585,6 +378252,7 @@ subset: ordo_clinical_subtype {source="Orphanet:295163"} subset: orphanet_rare {source="Orphanet:295163"} subset: rare xref: ICD10CM:Q69.0 {source="Orphanet:295163/attributed", source="Orphanet:295163/ntbt", source="Orphanet:295163"} +xref: icd11.foundation:471986216 {source="MONDO:equivalentTo"} xref: Orphanet:295163 {source="MONDO:equivalentObsolete"} xref: UMLS:CN203262 {source="MONDO:equivalentTo"} is_a: MONDO:0019673 {source="Orphanet:295163"} ! postaxial polydactyly type A @@ -375596,6 +378264,7 @@ subset: ordo_clinical_subtype {source="Orphanet:295165"} subset: orphanet_rare {source="Orphanet:295165"} subset: rare xref: ICD10CM:Q69.0 {source="Orphanet:295165/attributed", source="Orphanet:295165/ntbt", source="Orphanet:295165"} +xref: icd11.foundation:1050812995 {source="MONDO:equivalentTo"} xref: Orphanet:295165 {source="MONDO:equivalentObsolete"} xref: UMLS:CN203263 {source="MONDO:equivalentTo"} is_a: MONDO:0019673 {source="Orphanet:295165"} ! postaxial polydactyly type A @@ -375607,6 +378276,7 @@ subset: ordo_clinical_subtype {source="Orphanet:295167"} subset: orphanet_rare {source="Orphanet:295167"} subset: rare xref: ICD10CM:Q69.0 {source="Orphanet:295167", source="Orphanet:295167/attributed", source="Orphanet:295167/ntbt"} +xref: icd11.foundation:154207037 {source="MONDO:equivalentTo"} xref: Orphanet:295167 {source="MONDO:equivalentObsolete"} xref: UMLS:CN203264 {source="MONDO:equivalentTo"} is_a: MONDO:0019674 {source="Orphanet:295167"} ! postaxial polydactyly type B @@ -375618,6 +378288,7 @@ subset: ordo_clinical_subtype {source="Orphanet:295169"} subset: orphanet_rare {source="Orphanet:295169"} subset: rare xref: ICD10CM:Q69.0 {source="Orphanet:295169", source="Orphanet:295169/attributed", source="Orphanet:295169/ntbt"} +xref: icd11.foundation:921497168 {source="MONDO:equivalentTo"} xref: Orphanet:295169 {source="MONDO:equivalentObsolete"} xref: UMLS:CN203265 {source="MONDO:equivalentTo"} is_a: MONDO:0019674 {source="Orphanet:295169"} ! postaxial polydactyly type B @@ -375632,6 +378303,7 @@ subset: rare synonym: "mesoaxial polydactyly of fingers, unilateral" EXACT [Orphanet:295171] synonym: "mirror hand, unilateral" EXACT [Orphanet:295171] xref: ICD10CM:Q69.0 {source="Orphanet:295171/attributed", source="Orphanet:295171/ntbt", source="Orphanet:295171"} +xref: icd11.foundation:738371690 {source="MONDO:equivalentTo"} xref: Orphanet:295171 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017456 {source="Orphanet:295171"} ! central polydactyly of fingers @@ -375644,6 +378316,7 @@ subset: rare synonym: "mesoaxial polydactyly of fingers, bilateral" EXACT [Orphanet:295173] synonym: "mirror hand, bilateral" EXACT [Orphanet:295173] xref: ICD10CM:Q69.0 {source="Orphanet:295173", source="Orphanet:295173/attributed", source="Orphanet:295173/ntbt"} +xref: icd11.foundation:462522644 {source="MONDO:equivalentTo"} xref: Orphanet:295173 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017456 {source="Orphanet:295173"} ! central polydactyly of fingers @@ -375657,6 +378330,7 @@ synonym: "bifid great toes, unilateral" EXACT [Orphanet:295175] synonym: "bifid halluces, unilateral" EXACT [Orphanet:295175] synonym: "bifid hallux, unilateral" EXACT [Orphanet:295175] xref: ICD10CM:Q69.2 {source="Orphanet:295175", source="Orphanet:295175/attributed", source="Orphanet:295175/ntbt"} +xref: icd11.foundation:841462147 {source="MONDO:equivalentTo"} xref: Orphanet:295175 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017457 {source="Orphanet:295175"} ! Preaxial polydactyly of toes @@ -375670,6 +378344,7 @@ synonym: "bifid great toes, bilateral" EXACT [Orphanet:295177] synonym: "bifid halluces, bilateral" EXACT [Orphanet:295177] synonym: "bifid hallux, bilateral" EXACT [Orphanet:295177] xref: ICD10CM:Q69.2 {source="Orphanet:295177/attributed", source="Orphanet:295177/ntbt", source="Orphanet:295177"} +xref: icd11.foundation:3040646 {source="MONDO:equivalentTo"} xref: Orphanet:295177 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017457 {source="Orphanet:295177"} ! Preaxial polydactyly of toes @@ -375731,6 +378406,7 @@ xref: ICD10CM:Q70.0 {source="Orphanet:295189", source="Orphanet:295189/nd", sour xref: ICD10CM:Q70.1 {source="Orphanet:295189", source="Orphanet:295189/nd", source="Orphanet:295189/attributed"} xref: ICD10CM:Q70.2 {source="Orphanet:295189", source="Orphanet:295189/nd", source="Orphanet:295189/attributed"} xref: ICD10CM:Q70.3 {source="Orphanet:295189", source="Orphanet:295189/nd", source="Orphanet:295189/attributed"} +xref: icd11.foundation:1092417894 {source="MONDO:equivalentTo"} xref: Orphanet:295189 {source="MONDO:equivalentTo"} xref: UMLS:CN203275 {source="MONDO:equivalentTo"} is_a: MONDO:0008512 {source="Orphanet:295189"} ! syndactyly type 1 @@ -375755,6 +378431,7 @@ xref: ICD10CM:Q70.0 {source="Orphanet:295191/nd", source="Orphanet:295191/attrib xref: ICD10CM:Q70.1 {source="Orphanet:295191/nd", source="Orphanet:295191/attributed", source="Orphanet:295191"} xref: ICD10CM:Q70.2 {source="Orphanet:295191/nd", source="Orphanet:295191/attributed", source="Orphanet:295191"} xref: ICD10CM:Q70.3 {source="Orphanet:295191/nd", source="Orphanet:295191/attributed", source="Orphanet:295191"} +xref: icd11.foundation:1831534806 {source="MONDO:equivalentTo"} xref: Orphanet:295191 {source="MONDO:equivalentTo"} xref: UMLS:CN203276 {source="MONDO:equivalentTo"} is_a: MONDO:0008512 {source="Orphanet:295191"} ! syndactyly type 1 @@ -375774,6 +378451,7 @@ synonym: "syndactyly type 1d" EXACT [Orphanet:295193] synonym: "Zygodactyly, Castilla type" EXACT [Orphanet:295193] xref: GARD:21216 {source="Orphanet:295193"} xref: ICD10CM:Q70.3 {source="Orphanet:295193/attributed", source="Orphanet:295193/ntbt", source="Orphanet:295193"} +xref: icd11.foundation:1391914407 {source="MONDO:equivalentTo"} xref: Orphanet:295193 {source="MONDO:equivalentTo"} xref: UMLS:CN203277 {source="MONDO:equivalentTo"} is_a: MONDO:0008512 {source="Orphanet:295193"} ! syndactyly type 1 @@ -375788,6 +378466,7 @@ subset: orphanet_rare {source="Orphanet:295201"} subset: rare xref: GARD:21217 {source="Orphanet:295201"} xref: ICD10CM:Q66.8 {source="Orphanet:295201", source="Orphanet:295201/attributed", source="Orphanet:295201/ntbt"} +xref: icd11.foundation:2123428798 {source="MONDO:equivalentTo"} xref: Orphanet:295201 {source="MONDO:equivalentTo"} is_a: MONDO:0008652 {source="Orphanet:295201"} ! congenital vertical talus @@ -375801,6 +378480,7 @@ subset: orphanet_rare {source="Orphanet:295203"} subset: rare xref: GARD:21218 {source="Orphanet:295203"} xref: ICD10CM:Q66.8 {source="Orphanet:295203", source="Orphanet:295203/attributed", source="Orphanet:295203/ntbt"} +xref: icd11.foundation:1224987332 {source="MONDO:equivalentTo"} xref: Orphanet:295203 {source="MONDO:equivalentTo"} is_a: MONDO:0008652 {source="Orphanet:295203"} ! congenital vertical talus @@ -375812,6 +378492,7 @@ subset: orphanet_rare {source="Orphanet:295205"} subset: rare synonym: "humero-radio-ulnar fusion, unilateral" EXACT [Orphanet:295205] xref: ICD10CM:Q74.0 {source="Orphanet:295205", source="Orphanet:295205/attributed", source="Orphanet:295205/ntbt"} +xref: icd11.foundation:322904301 {source="MONDO:equivalentTo"} xref: Orphanet:295205 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017983 {source="Orphanet:295205"} ! humero-radio-ulnar synostosis @@ -375823,6 +378504,7 @@ subset: orphanet_rare {source="Orphanet:295207"} subset: rare synonym: "humero-radio-ulnar fusion, bilateral" EXACT [Orphanet:295207] xref: ICD10CM:Q74.0 {source="Orphanet:295207/attributed", source="Orphanet:295207/ntbt", source="Orphanet:295207"} +xref: icd11.foundation:557249772 {source="MONDO:equivalentTo"} xref: Orphanet:295207 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017983 {source="Orphanet:295207"} ! humero-radio-ulnar synostosis @@ -375834,6 +378516,7 @@ subset: orphanet_rare {source="Orphanet:295209"} subset: rare synonym: "humero-radial fusion, unilateral" EXACT [Orphanet:295209] xref: ICD10CM:Q74.0 {source="Orphanet:295209/attributed", source="Orphanet:295209/ntbt", source="Orphanet:295209"} +xref: icd11.foundation:695744743 {source="MONDO:equivalentTo"} xref: Orphanet:295209 {source="MONDO:equivalentObsolete"} is_a: MONDO:0007737 {source="Orphanet:295209"} ! humeroradial synostosis @@ -375845,6 +378528,7 @@ subset: orphanet_rare {source="Orphanet:295211"} subset: rare synonym: "humero-radial fusion, bilateral" EXACT [Orphanet:295211] xref: ICD10CM:Q74.0 {source="Orphanet:295211", source="Orphanet:295211/attributed", source="Orphanet:295211/ntbt"} +xref: icd11.foundation:1424025632 {source="MONDO:equivalentTo"} xref: Orphanet:295211 {source="MONDO:equivalentObsolete"} is_a: MONDO:0007737 {source="Orphanet:295211"} ! humeroradial synostosis @@ -375859,6 +378543,7 @@ subset: rare synonym: "humero-ulnar fusion, unilateral" EXACT [Orphanet:295213] xref: GARD:21219 {source="Orphanet:295213"} xref: ICD10CM:Q74.0 {source="Orphanet:295213", source="Orphanet:295213/attributed", source="Orphanet:295213/ntbt"} +xref: icd11.foundation:1726561305 {source="MONDO:equivalentTo"} xref: Orphanet:295213 {source="MONDO:equivalentTo"} is_a: MONDO:0019782 {source="Orphanet:295213"} ! humero-ulnar synostosis @@ -375873,6 +378558,7 @@ subset: rare synonym: "humero-ulnar fusion, bilateral" EXACT [Orphanet:295215] xref: GARD:21220 {source="Orphanet:295215"} xref: ICD10CM:Q74.0 {source="Orphanet:295215/attributed", source="Orphanet:295215/ntbt", source="Orphanet:295215"} +xref: icd11.foundation:1331627150 {source="MONDO:equivalentTo"} xref: Orphanet:295215 {source="MONDO:equivalentTo"} is_a: MONDO:0019782 {source="Orphanet:295215"} ! humero-ulnar synostosis @@ -375887,6 +378573,7 @@ subset: rare synonym: "radio-ulnar fusion, unilateral" EXACT [Orphanet:295217] xref: GARD:21221 {source="Orphanet:295217"} xref: ICD10CM:Q74.0 {source="Orphanet:295217/attributed", source="Orphanet:295217/ntbt", source="Orphanet:295217"} +xref: icd11.foundation:2026644976 {source="MONDO:equivalentTo"} xref: Orphanet:295217 {source="MONDO:equivalentTo"} xref: UMLS:CN203290 {source="MONDO:equivalentTo"} is_a: MONDO:0017985 {source="Orphanet:295217"} ! congenital radioulnar synostosis @@ -375902,6 +378589,7 @@ subset: rare synonym: "radio-ulnar fusion, bilateral" EXACT [Orphanet:295219] xref: GARD:21222 {source="Orphanet:295219"} xref: ICD10CM:Q74.0 {source="Orphanet:295219/attributed", source="Orphanet:295219/ntbt", source="Orphanet:295219"} +xref: icd11.foundation:1515190165 {source="MONDO:equivalentTo"} xref: Orphanet:295219 {source="MONDO:equivalentTo"} xref: UMLS:CN203291 {source="MONDO:equivalentTo"} is_a: MONDO:0017985 {source="Orphanet:295219"} ! congenital radioulnar synostosis @@ -375913,6 +378601,7 @@ subset: ordo_clinical_subtype {source="Orphanet:295221"} subset: orphanet_rare {source="Orphanet:295221"} subset: rare xref: ICD10CM:Q74.0 {source="Orphanet:295221/attributed", source="Orphanet:295221/ntbt", source="Orphanet:295221"} +xref: icd11.foundation:1964514438 {source="MONDO:equivalentTo"} xref: Orphanet:295221 {source="MONDO:equivalentObsolete"} is_a: MONDO:0018154 {source="Orphanet:295221"} ! Madelung deformity @@ -375923,6 +378612,7 @@ subset: ordo_clinical_subtype {source="Orphanet:295223"} subset: orphanet_rare {source="Orphanet:295223"} subset: rare xref: ICD10CM:Q74.0 {source="Orphanet:295223", source="Orphanet:295223/attributed", source="Orphanet:295223/ntbt"} +xref: icd11.foundation:1577029287 {source="MONDO:equivalentTo"} xref: Orphanet:295223 {source="MONDO:equivalentObsolete"} is_a: MONDO:0018154 {source="Orphanet:295223"} ! Madelung deformity @@ -375936,6 +378626,7 @@ subset: orphanet_rare {source="Orphanet:295225"} subset: rare xref: GARD:21223 {source="Orphanet:295225"} xref: ICD10CM:Q68.8 {source="Orphanet:295225", source="Orphanet:295225/attributed", source="Orphanet:295225/ntbt"} +xref: icd11.foundation:1630272046 {source="MONDO:equivalentTo"} xref: Orphanet:295225 {source="MONDO:equivalentTo"} is_a: MONDO:0017469 {source="Orphanet:295225"} ! congenital elbow dislocation relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -375951,6 +378642,7 @@ subset: orphanet_rare {source="Orphanet:295227"} subset: rare xref: GARD:21224 {source="Orphanet:295227"} xref: ICD10CM:Q68.8 {source="Orphanet:295227", source="Orphanet:295227/attributed", source="Orphanet:295227/ntbt"} +xref: icd11.foundation:1454955344 {source="MONDO:equivalentTo"} xref: Orphanet:295227 {source="MONDO:equivalentTo"} is_a: MONDO:0017469 {source="Orphanet:295227"} ! congenital elbow dislocation relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -375971,6 +378663,7 @@ synonym: "hyperextension of knee deformity" EXACT [NCIT:C103184] xref: GARD:21225 {source="Orphanet:295229"} xref: ICD10CM:Q68.2 {source="Orphanet:295229/ntbt", source="Orphanet:295229/inclusion", source="Orphanet:295229"} xref: icd11.foundation:1709221347 {source="MONDO:equivalentTo", source="Orphanet:295229"} +xref: icd11.foundation:1709221347 {source="MONDO:equivalentTo"} xref: ICD9:754.40 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C103184 {source="MONDO:equivalentTo"} xref: Orphanet:295229 {source="MONDO:equivalentTo"} @@ -375991,6 +378684,7 @@ subset: rare xref: GARD:21226 {source="Orphanet:295232"} xref: ICD10CM:Q68.2 {source="Orphanet:295232/attributed", source="Orphanet:295232/ntbt", source="Orphanet:295232"} xref: icd11.foundation:830907514 {source="Orphanet:295232", source="MONDO:equivalentTo"} +xref: icd11.foundation:830907514 {source="MONDO:equivalentTo"} xref: Orphanet:295232 {source="MONDO:equivalentTo"} is_a: MONDO:0017470 {source="Orphanet:295232"} ! congenital knee dislocation relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -376003,6 +378697,7 @@ subset: ordo_clinical_subtype {source="Orphanet:295234"} subset: orphanet_rare {source="Orphanet:295234"} subset: rare xref: ICD10CM:Q74.1 {source="Orphanet:295234", source="Orphanet:295234/attributed", source="Orphanet:295234/ntbt"} +xref: icd11.foundation:1894799098 {source="MONDO:equivalentTo"} xref: Orphanet:295234 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017471 {source="Orphanet:295234"} ! congenital patella dislocation relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -376015,6 +378710,7 @@ subset: ordo_clinical_subtype {source="Orphanet:295237"} subset: orphanet_rare {source="Orphanet:295237"} subset: rare xref: ICD10CM:Q74.1 {source="Orphanet:295237/attributed", source="Orphanet:295237/ntbt", source="Orphanet:295237"} +xref: icd11.foundation:1604828649 {source="MONDO:equivalentTo"} xref: Orphanet:295237 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017471 {source="Orphanet:295237"} ! congenital patella dislocation relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -376031,6 +378727,7 @@ subset: rare synonym: "macrodactyly of hand, unilateral" EXACT [Orphanet:295239] xref: GARD:21227 {source="Orphanet:295239"} xref: ICD10CM:Q74.0 {source="Orphanet:295239/attributed", source="Orphanet:295239/ntbt", source="Orphanet:295239"} +xref: icd11.foundation:128394973 {source="MONDO:equivalentTo"} xref: Orphanet:295239 {source="MONDO:equivalentTo"} is_a: MONDO:0017474 {source="Orphanet:295239"} ! macrodactyly of fingers @@ -376045,6 +378742,7 @@ subset: rare synonym: "macrodactyly of hand, bilateral" EXACT [Orphanet:295241] xref: GARD:21228 {source="Orphanet:295241"} xref: ICD10CM:Q74.0 {source="Orphanet:295241", source="Orphanet:295241/attributed", source="Orphanet:295241/ntbt"} +xref: icd11.foundation:514958635 {source="MONDO:equivalentTo"} xref: Orphanet:295241 {source="MONDO:equivalentTo"} is_a: MONDO:0017474 {source="Orphanet:295241"} ! macrodactyly of fingers @@ -376059,6 +378757,7 @@ subset: rare synonym: "macrodactyly of foot, unilateral" EXACT [Orphanet:295243] xref: GARD:21229 {source="Orphanet:295243"} xref: ICD10CM:Q74.2 {source="Orphanet:295243/attributed", source="Orphanet:295243/ntbt", source="Orphanet:295243"} +xref: icd11.foundation:1009940304 {source="MONDO:equivalentTo"} xref: Orphanet:295243 {source="MONDO:equivalentTo"} is_a: MONDO:0017475 {source="Orphanet:295243"} ! macrodactyly of toes @@ -376073,6 +378772,7 @@ subset: rare synonym: "macrodactyly of foot, bilateral" EXACT [Orphanet:295245] xref: GARD:21230 {source="Orphanet:295245"} xref: ICD10CM:Q74.2 {source="Orphanet:295245", source="Orphanet:295245/attributed", source="Orphanet:295245/ntbt"} +xref: icd11.foundation:84822459 {source="MONDO:equivalentTo"} xref: Orphanet:295245 {source="MONDO:equivalentTo"} is_a: MONDO:0017475 {source="Orphanet:295245"} ! macrodactyly of toes @@ -376147,6 +378847,7 @@ synonym: "LAD" BROAD ABBREVIATION [Orphanet:2968] xref: DOID:6612 {source="MONDO:equivalentTo"} xref: GARD:16616 {source="Orphanet:2968"} xref: ICD10CM:D84.8 {source="DOID:6612", source="Orphanet:2968", source="Orphanet:2968/attributed", source="Orphanet:2968/ntbt"} +xref: icd11.foundation:317341989 {source="MONDO:equivalentTo"} xref: MESH:D018370 {source="Orphanet:2968/e", source="DOID:6612", source="Orphanet:2968"} xref: NCIT:C27874 {source="DOID:6612", source="MONDO:equivalentTo"} xref: Orphanet:2968 {source="DOID:6612", source="MONDO:equivalentTo"} @@ -376812,6 +379513,7 @@ synonym: "regressive atypical histiocytosis" EXACT [Orphanet:300865] xref: GARD:21247 {source="Orphanet:300865"} xref: ICD10CM:C86.6 {source="Orphanet:300865", source="Orphanet:300865/ntbt"} xref: icd11.foundation:1972636482 {source="MONDO:equivalentTo", source="Orphanet:300865", source="https://orcid.org/0000-0002-4142-7153"} +xref: icd11.foundation:668003563 {source="MONDO:equivalentTo"} xref: MedDRA:10065863 {source="Orphanet:300865", source="Orphanet:300865/e"} xref: MESH:D054446 {source="MONDO:equivalentTo"} xref: NCIT:C6860 {source="MONDO:equivalentTo"} @@ -376836,6 +379538,8 @@ synonym: "SDRPL" EXACT ABBREVIATION [ONCOTREE:SDRPL, Orphanet:300869] synonym: "splenic diffuse red pulp lymphoma" EXACT [Orphanet:300869] xref: GARD:21248 {source="Orphanet:300869"} xref: ICD10CM:C83.0 {source="Orphanet:300869/ntbt", source="Orphanet:300869"} +xref: icd11.foundation:1691104199 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1970934986 {source="MONDO:equivalentTo"} xref: ICDO:9591/3 {source="NCIT:C80309"} xref: NCIT:C80309 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:SDRPL {source="MONDO:equivalentTo"} @@ -376998,6 +379702,7 @@ synonym: "sacral regression syndrome" EXACT [Orphanet:3027] xref: DOID:0080700 {source="MONDO:equivalentTo"} xref: GARD:6007 {source="Orphanet:3027"} xref: ICD10CM:Q76.0 {source="Orphanet:3027/attributed", source="Orphanet:3027/ntbt", source="Orphanet:3027"} +xref: icd11.foundation:269997265 {source="MONDO:equivalentTo"} xref: MedDRA:10054842 {source="Orphanet:3027", source="Orphanet:3027/e"} xref: MedDRA:10059387 {source="Orphanet:3027", source="Orphanet:3027/e"} xref: MedDRA:10068896 {source="Orphanet:3027", source="Orphanet:3027/e"} @@ -377030,6 +379735,7 @@ synonym: "primitive renal tubule syndrome" EXACT [Orphanet:3033] synonym: "renotubular dysgenesis" EXACT [Orphanet:3033] xref: GARD:379 {source="Orphanet:3033"} xref: ICD10CM:Q63.8 {source="Orphanet:3033/ntbt", source="Orphanet:3033"} +xref: icd11.foundation:191424358 {source="MONDO:equivalentTo"} xref: icd11.foundation:191424358 {source="MONDO:equivalentTo", source="Orphanet:3033"} xref: Orphanet:3033 {source="MONDO:equivalentTo"} xref: SCTID:702397002 {source="MONDO:equivalentTo"} @@ -377053,6 +379759,7 @@ synonym: "epidermolysis bullosa simplex" EXACT [DOID:4644] xref: DOID:4644 {source="MONDO:equivalentTo"} xref: GARD:10752 {source="Orphanet:304"} xref: ICD10CM:Q81.0 {source="Orphanet:304", source="DOID:4644", source="MONDO:equivalentTo", source="Orphanet:304/e", source="Orphanet:304/specific"} +xref: icd11.foundation:1860717527 {source="MONDO:equivalentTo"} xref: icd11.foundation:1860717527 {source="Orphanet:304", source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016110 {source="DOID:4644", source="MONDO:equivalentTo"} @@ -377130,6 +379837,7 @@ synonym: "junctional epidermolysis bullosa" EXACT CLINGEN_LABEL [] xref: DOID:3209 {source="MONDO:equivalentTo"} xref: GARD:2152 {source="Orphanet:305"} xref: icd11.foundation:1501260457 {source="Orphanet:305", source="MONDO:equivalentTo"} +xref: icd11.foundation:1501260457 {source="MONDO:equivalentTo"} xref: MESH:D016109 {source="Orphanet:305", source="MONDO:equivalentTo", source="DOID:3209", source="Orphanet:305/e"} xref: NCIT:C90598 {source="MONDO:equivalentTo", source="DOID:3209"} xref: OMIMPS:226650 {source="MONDO:equivalentTo"} @@ -377201,6 +379909,7 @@ xref: DOID:0060169 {source="MONDO:equivalentTo"} xref: GARD:857 {source="Orphanet:306"} xref: ICD10CM:G40.3 {source="Orphanet:306/attributed", source="Orphanet:306/ntbt", source="Orphanet:306"} xref: icd11.foundation:1944845279 {source="Orphanet:306", source="MONDO:equivalentTo"} +xref: icd11.foundation:1944845279 {source="MONDO:equivalentTo"} xref: ICD9:V17.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIMPS:601764 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:306 {source="DOID:0060169", source="MONDO:equivalentTo"} @@ -377639,6 +380348,7 @@ subset: orphanet_rare {source="Orphanet:306692"} subset: rare xref: GARD:21266 {source="Orphanet:306692"} xref: ICD10CM:G21.2 {source="Orphanet:306692", source="Orphanet:306692/ntbt"} +xref: icd11.foundation:1717111858 {source="MONDO:equivalentTo"} xref: Orphanet:306692 {source="MONDO:equivalentTo"} xref: SCTID:766872002 {source="MONDO:equivalentTo"} xref: UMLS:CN203536 {source="MONDO:equivalentTo"} @@ -377756,6 +380466,7 @@ subset: rare xref: GARD:7716 {source="Orphanet:306731"} xref: ICD10CM:I02.0 {source="Orphanet:306731/nd", source="Orphanet:306731"} xref: ICD10CM:I02.9 {source="Orphanet:306731/nd", source="Orphanet:306731"} +xref: icd11.foundation:1295812812 {source="MONDO:equivalentTo"} xref: MedDRA:10042732 {source="Orphanet:306731/e", source="Orphanet:306731"} xref: NCIT:C168445 {source="MONDO:equivalentTo"} xref: Orphanet:306731 {source="MONDO:equivalentTo"} @@ -378167,6 +380878,7 @@ synonym: "punctate PPK" EXACT [Orphanet:307967] xref: DOID:0060361 {source="MONDO:equivalentTo"} xref: GARD:21297 {source="Orphanet:307967"} xref: ICD10CM:Q82.8 {source="Orphanet:307967/attributed", source="Orphanet:307967/ntbt", source="Orphanet:307967"} +xref: icd11.foundation:1212361548 {source="MONDO:equivalentTo"} xref: Orphanet:307967 {source="MONDO:equivalentTo", source="DOID:0060361"} xref: SCTID:402773000 {source="MONDO:equivalentTo", source="DOID:0060361"} xref: UMLS:C1274216 {source="Orphanet:307967", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:307967/e", source="DOID:0060361"} @@ -378508,6 +381220,7 @@ synonym: "GSD type II, infantile onset" EXACT [Orphanet:308552] synonym: "Pompe disease, infantile onset" EXACT [Orphanet:308552] xref: GARD:21310 {source="Orphanet:308552"} xref: ICD10CM:E74.0 {source="Orphanet:308552", source="Orphanet:308552/attributed", source="Orphanet:308552/ntbt"} +xref: icd11.foundation:1496243702 {source="MONDO:equivalentTo"} xref: Orphanet:308552 {source="MONDO:equivalentTo"} xref: SCTID:722302009 {source="MONDO:equivalentTo"} xref: UMLS:C0751173 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:308552"} @@ -378796,6 +381509,7 @@ subset: ordo_group_of_disorders {source="Orphanet:309025"} subset: orphanet_rare {source="Orphanet:309025"} subset: rare xref: GARD:21315 {source="Orphanet:309025"} +xref: icd11.foundation:772056052 {source="MONDO:equivalentTo"} xref: MedDRA:10072221 {source="Orphanet:309025", source="Orphanet:309025/e"} xref: MESH:D054078 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NORD:1260 {source="MONDO:NORD"} @@ -378845,6 +381559,7 @@ subset: orphanet_rare {source="Orphanet:309108"} subset: rare xref: GARD:17402 {source="Orphanet:309108"} xref: ICD10CM:K90.3 {source="MONDO:relatedTo", source="Orphanet:309108/attributed", source="Orphanet:309108/ntbt", source="Orphanet:309108"} +xref: icd11.foundation:11281354 {source="MONDO:equivalentTo"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:309108 {source="MONDO:equivalentTo"} xref: SCTID:69478001 {source="MONDO:equivalentTo"} @@ -378972,6 +381687,7 @@ xref: ICD10CM:E75.0 {source="Orphanet:309144", source="Orphanet:309144/specific" xref: ICD10CM:E75.1 {source="Orphanet:309144", source="Orphanet:309144/specific", source="Orphanet:309144/btnt"} xref: ICD10CM:E75.10 {source="DOID:2368"} xref: icd11.foundation:797306953 {source="MONDO:equivalentTo", source="Orphanet:309144"} +xref: icd11.foundation:797306953 {source="MONDO:equivalentTo"} xref: MESH:D005733 {source="DOID:2368"} xref: Orphanet:309144 {source="MONDO:equivalentTo"} xref: SCTID:50967008 {source="MONDO:equivalentTo", source="DOID:2368"} @@ -378995,6 +381711,7 @@ xref: DOID:3321 {source="MONDO:equivalentTo"} xref: GARD:21323 {source="Orphanet:309152"} xref: ICD10CM:E75.0 {source="DOID:3321", source="Orphanet:309152", source="MONDO:equivalentTo", source="Orphanet:309152/specific", source="Orphanet:309152/e"} xref: ICD10CM:E75.00 {source="DOID:3321"} +xref: icd11.foundation:1513691830 {source="MONDO:equivalentTo"} xref: MESH:D020143 {source="DOID:3321", source="MONDO:equivalentTo"} xref: Orphanet:309152 {source="MONDO:equivalentTo"} xref: SCTID:33316007 {source="DOID:3321", source="MONDO:equivalentTo"} @@ -379118,6 +381835,7 @@ subset: orphanet_rare {source="Orphanet:3092"} subset: rare xref: GARD:16619 {source="Orphanet:3092"} xref: ICD10CM:Q24.4 {source="Orphanet:3092", source="Orphanet:3092/e"} +xref: icd11.foundation:1471062257 {source="MONDO:equivalentTo"} xref: Orphanet:3092 {source="MONDO:equivalentTo"} xref: UMLS:C1848979 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3092"} is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559", source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder @@ -379191,6 +381909,7 @@ xref: ICD10CM:E77.1 {source="Orphanet:309279/specific", source="Orphanet:309279/ xref: ICD10CM:E77.8 {source="Orphanet:309279/specific", source="Orphanet:309279/btnt", source="Orphanet:309279"} xref: ICD10CM:E77.9 {source="Orphanet:309279/specific", source="Orphanet:309279/btnt", source="Orphanet:309279"} xref: icd11.foundation:979972142 {source="MONDO:equivalentTo", source="Orphanet:309279"} +xref: icd11.foundation:979972142 {source="MONDO:equivalentTo"} xref: Orphanet:309279 {source="MONDO:equivalentTo"} is_a: MONDO:0002561 {source="Orphanet:309279"} ! lysosomal storage disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10670/glycoproteinosis" xsd:anyURI {source="GARD:0010670"} @@ -379238,6 +381957,7 @@ subset: orphanet_rare {source="Orphanet:309294"} subset: rare xref: GARD:21331 {source="Orphanet:309294"} xref: ICD10CM:E77.1 {source="Orphanet:309294/inclusion", source="Orphanet:309294", source="Orphanet:309294/ntbt"} +xref: icd11.foundation:1180347697 {source="MONDO:equivalentTo"} xref: MedDRA:10058800 {source="Orphanet:309294", source="Orphanet:309294/e"} xref: Orphanet:309294 {source="MONDO:equivalentTo"} xref: SCTID:38795005 {source="MONDO:equivalentTo"} @@ -379436,6 +382156,7 @@ synonym: "Rett like syndrome" RELATED [GARD:0004694] synonym: "Rett syndrome variant" EXACT [Orphanet:3095] xref: GARD:4694 {source="Orphanet:3095"} xref: ICD10CM:F84.2 {source="Orphanet:3095", source="Orphanet:3095/attributed", source="Orphanet:3095/ntbt"} +xref: icd11.foundation:605088126 {source="MONDO:equivalentTo"} xref: Orphanet:3095 {source="MONDO:equivalentTo"} xref: SCTID:718393002 {source="MONDO:equivalentTo"} xref: UMLS:C2748910 {source="MONDO:equivalentTo", source="Orphanet:3095"} @@ -380009,6 +382730,7 @@ xref: ICD10CM:A24.1 {source="Orphanet:31202/btnt", source="Orphanet:31202"} xref: ICD10CM:A24.2 {source="Orphanet:31202/btnt", source="Orphanet:31202"} xref: ICD10CM:A24.3 {source="Orphanet:31202/btnt", source="Orphanet:31202"} xref: ICD10CM:A24.9 {source="DOID:5052"} +xref: icd11.foundation:2129350166 {source="MONDO:equivalentTo"} xref: icd11.foundation:2129350166 {source="Orphanet:31202", source="MONDO:equivalentTo"} xref: ICD9:025 {source="DOID:5052"} xref: MedDRA:10069748 {source="Orphanet:31202", source="Orphanet:31202/e"} @@ -380050,6 +382772,7 @@ xref: ICD10CM:A43.0 {source="Orphanet:31204/btnt", source="Orphanet:31204"} xref: ICD10CM:A43.1 {source="Orphanet:31204/btnt", source="Orphanet:31204"} xref: ICD10CM:A43.8 {source="Orphanet:31204/btnt", source="Orphanet:31204"} xref: ICD10CM:A43.9 {source="Orphanet:31204/btnt", source="DOID:2312", source="Orphanet:31204"} +xref: icd11.foundation:6555116 {source="MONDO:equivalentTo"} xref: MedDRA:10029444 {source="Orphanet:31204", source="Orphanet:31204/e"} xref: MESH:C536125 {source="Orphanet:31204", source="Orphanet:31204/e"} xref: MESH:D009617 {source="DOID:2312", source="MONDO:equivalentTo", source="EFO:0007397"} @@ -380088,6 +382811,7 @@ synonym: "congenital lamellar ichthyosis" EXACT [Orphanet:313] synonym: "LI" EXACT ABBREVIATION [Orphanet:313] xref: GARD:10803 {source="Orphanet:313"} xref: ICD10CM:Q80.2 {source="Orphanet:313", source="Orphanet:313/e", source="Orphanet:313/specific"} +xref: icd11.foundation:600146417 {source="MONDO:equivalentTo"} xref: MedDRA:10023686 {source="Orphanet:313", source="Orphanet:313/e"} xref: MESH:D017490 {source="Orphanet:313", source="Orphanet:313/e"} xref: NCIT:C84805 {source="MONDO:equivalentTo"} @@ -380118,6 +382842,7 @@ synonym: "Schindler disease" EXACT [NORD:1693, Orphanet:3137] xref: DOID:0112317 {source="MONDO:equivalentTo"} xref: GARD:16621 {source="Orphanet:3137"} xref: ICD10CM:E77.1 {source="Orphanet:3137/attributed", source="Orphanet:3137/ntbt", source="Orphanet:3137"} +xref: icd11.foundation:1647881428 {source="MONDO:equivalentTo"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NORD:1693 {source="MONDO:NORD"} xref: Orphanet:3137 {source="MONDO:equivalentTo"} @@ -380199,6 +382924,7 @@ synonym: "neonatal congenital pancreatic cyst" EXACT [Orphanet:313906] synonym: "true congenital pancreatic cyst" EXACT [Orphanet:313906] xref: GARD:21361 {source="Orphanet:313906"} xref: ICD10CM:Q45.2 {source="Orphanet:313906/e", source="MONDO:equivalentTo", source="Orphanet:313906"} +xref: icd11.foundation:981856956 {source="MONDO:equivalentTo"} xref: Orphanet:313906 {source="MONDO:equivalentTo"} xref: SCTID:204808002 {source="MONDO:equivalentTo"} xref: UMLS:C0341480 {source="Orphanet:313906/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:313906"} @@ -380711,6 +383437,7 @@ synonym: "autosomal dominant beta2-microglobulinic amyloidosis" EXACT [Orphanet: xref: DOID:0080929 {source="MONDO:equivalentTo"} xref: GARD:21382 {source="Orphanet:314652"} xref: ICD10CM:E85.1 {source="Orphanet:314652/attributed", source="Orphanet:314652/ntbt", source="Orphanet:314652"} +xref: icd11.foundation:1466418791 {source="MONDO:equivalentTo"} xref: Orphanet:314652 {source="MONDO:equivalentTo"} xref: SCTID:722292000 {source="MONDO:equivalentTo"} xref: UMLS:C4302669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -381188,6 +383915,7 @@ synonym: "HES-L" EXACT [Orphanet:314970] synonym: "lymphocytic variant HES" EXACT [Orphanet:314970] synonym: "lymphoid HES" EXACT [Orphanet:314970] xref: GARD:21397 {source="Orphanet:314970"} +xref: icd11.foundation:367714724 {source="MONDO:equivalentTo"} xref: Orphanet:314970 {source="MONDO:equivalentTo"} xref: UMLS:C5396402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017834 {source="Orphanet:314970"} ! secondary hypereosinophilic syndrome @@ -381250,6 +383978,7 @@ synonym: "cortical hyperostosis-syndactyly syndrome" EXACT [Orphanet:3152] xref: DOID:0060251 {source="MONDO:equivalentTo"} xref: GARD:4771 {source="Orphanet:3152"} xref: ICD10CM:M85.2 {source="Orphanet:3152/attributed", source="Orphanet:3152/ntbt", source="Orphanet:3152"} +xref: icd11.foundation:371637416 {source="MONDO:equivalentTo"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537525 {source="Orphanet:3152/e", source="MONDO:equivalentTo", source="Orphanet:3152", source="DOID:0060251"} xref: NCIT:C131133 {source="MONDO:equivalentTo"} @@ -381330,6 +384059,7 @@ synonym: "SLSN" EXACT ABBREVIATION [Orphanet:3156] xref: DOID:0050576 {source="MONDO:equivalentTo"} xref: GARD:322 {source="Orphanet:3156"} xref: ICD10CM:Q61.5 {source="Orphanet:3156", source="DOID:0050576", source="Orphanet:3156/attributed", source="Orphanet:3156/ntbt"} +xref: icd11.foundation:1975732692 {source="MONDO:equivalentTo"} xref: MESH:C537580 {source="Orphanet:3156", source="MONDO:equivalentTo", source="Orphanet:3156/e"} xref: NCIT:C168588 {source="MONDO:equivalentTo"} xref: OMIMPS:266900 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} @@ -381395,6 +384125,7 @@ xref: GARD:7629 {source="Orphanet:3162"} xref: ICD10CM:C84.1 {source="Orphanet:3162/ntbt", source="EFO:1000785", source="DOID:8541", source="Orphanet:3162"} xref: ICD10CM:C84.10 {source="DOID:8541"} xref: icd11.foundation:1358020385 {source="MONDO:equivalentTo", source="Orphanet:3162", source="https://orcid.org/0000-0002-4142-7153"} +xref: icd11.foundation:190029283 {source="MONDO:equivalentTo"} xref: ICD9:202.2 {source="EFO:1000785", source="DOID:8541"} xref: ICDO:9701/3 {source="NCIT:C3366"} xref: MedDRA:10040493 {source="Orphanet:3162/e", source="Orphanet:3162"} @@ -381443,6 +384174,7 @@ synonym: "AD-SPAX" EXACT [Orphanet:316235] synonym: "spastic ataxia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: GARD:21402 {source="Orphanet:316235"} xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:316235/attributed", source="Orphanet:316235/ntbt", source="Orphanet:316235"} +xref: icd11.foundation:1327229348 {source="MONDO:equivalentTo"} xref: Orphanet:316235 {source="MONDO:equivalentTo"} xref: UMLS:CN229111 {source="MONDO:equivalentTo"} is_a: MONDO:0017845 {source="MONDO:Redundant", source="Orphanet:316235"} ! spastic ataxia @@ -381511,6 +384243,7 @@ synonym: "Sirenomelus" RELATED [GARD:0007652] synonym: "symmelia" EXACT [NCIT:C118455] xref: GARD:7652 {source="Orphanet:3169"} xref: ICD10CM:Q87.2 {source="Orphanet:3169/inclusion", source="Orphanet:3169", source="Orphanet:3169/ntbt"} +xref: icd11.foundation:473306797 {source="MONDO:equivalentTo"} xref: icd11.foundation:473306797 {source="Orphanet:3169", source="MONDO:equivalentTo"} xref: MedDRA:10049216 {source="Orphanet:3169", source="Orphanet:3169/e"} xref: MESH:C538595 {source="Orphanet:3169", source="Orphanet:3169/e"} @@ -381557,6 +384290,7 @@ xref: GARD:10923 {source="Orphanet:308166"} xref: GARD:16528 {source="Orphanet:317"} xref: GARD:18639 {source="Orphanet:316"} xref: ICD10CM:Q82.8 {source="Orphanet:316/attributed", source="Orphanet:316/ntbt", source="Orphanet:317/attributed", source="Orphanet:317/ntbt", source="Orphanet:317", source="Orphanet:316", source="Orphanet:308166", source="Orphanet:308166/attributed", source="Orphanet:308166/ntbt"} +xref: icd11.foundation:551200965 {source="MONDO:equivalentTo"} xref: MedDRA:10049048 {source="Orphanet:317", source="Orphanet:317/e"} xref: MESH:C536154 {source="MONDO:equivalentTo"} xref: MESH:D056266 {source="DOID:0050467", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -381743,6 +384477,7 @@ synonym: "M6 acute myeloid leukemia" EXACT [NCIT:C8923] xref: DOID:0080780 {source="MONDO:equivalentTo"} xref: GARD:9620 {source="Orphanet:318"} xref: ICD10CM:C94.0 {source="Orphanet:318", source="Orphanet:318/ntbt"} +xref: icd11.foundation:538743484 {source="MONDO:equivalentTo"} xref: icd11.foundation:631263622 {source="MONDO:equivalentTo", source="Orphanet:318", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:205.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:207.00 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -381769,6 +384504,7 @@ subset: orphanet_rare {source="Orphanet:31824"} subset: rare xref: GARD:18803 {source="Orphanet:31824"} xref: ICD10CM:T50.4 {source="Orphanet:31824", source="Orphanet:31824/ntbt"} +xref: icd11.foundation:1617857912 {source="MONDO:equivalentTo"} xref: ICD9:974.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:31824 {source="MONDO:equivalentTo"} xref: SCTID:24354007 {source="MONDO:equivalentTo"} @@ -382171,6 +384907,7 @@ xref: GARD:69 {source="Orphanet:319247"} xref: ICD10EXP:B33.4+ {source="Orphanet:319247/e", source="Orphanet:319247"} xref: ICD10EXP:J17.1* {source="Orphanet:319247/e", source="Orphanet:319247"} xref: icd11.foundation:582624609 {source="MONDO:equivalentTo", source="Orphanet:319247"} +xref: icd11.foundation:582624609 {source="MONDO:equivalentTo"} xref: ICD9:480.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10019143 {source="Orphanet:319247/e", source="Orphanet:319247"} xref: MESH:D018804 {source="DOID:14472", source="MONDO:equivalentTo", source="EFO:0007296"} @@ -382209,6 +384946,7 @@ xref: DOID:1328 {source="MONDO:equivalentTo"} xref: GARD:21416 {source="Orphanet:319251"} xref: ICD10CM:A92.4 {source="Orphanet:319251", source="MONDO:equivalentTo", source="DOID:1328", source="Orphanet:319251/e"} xref: icd11.foundation:854137188 {source="Orphanet:319251", source="MONDO:equivalentTo"} +xref: icd11.foundation:854137188 {source="MONDO:equivalentTo"} xref: MedDRA:10039143 {source="Orphanet:319251", source="Orphanet:319251/e"} xref: MESH:D012295 {source="MONDO:equivalentTo", source="DOID:1328"} xref: NCIT:C128419 {source="MONDO:equivalentTo"} @@ -382243,6 +384981,7 @@ xref: DOID:11320 {source="MONDO:equivalentTo"} xref: GARD:8257 {source="Orphanet:319254"} xref: ICD10CM:A98.2 {source="MONDO:equivalentTo", source="Orphanet:319254", source="DOID:11320", source="Orphanet:319254/e"} xref: icd11.foundation:1288604967 {source="MONDO:equivalentTo", source="Orphanet:319254"} +xref: icd11.foundation:1288604967 {source="MONDO:equivalentTo"} xref: ICD9:065.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11320"} xref: MedDRA:10023505 {source="Orphanet:319254", source="Orphanet:319254/e"} xref: MESH:D007733 {source="MONDO:equivalentTo", source="DOID:11320"} @@ -382322,6 +385061,7 @@ xref: DOID:4465 {source="EFO:0000640", source="MONDO:equivalentTo"} xref: EFO:0000640 {source="MONDO:equivalentTo"} xref: GARD:9572 {source="Orphanet:319298"} xref: ICD10CM:C64 {source="Orphanet:47044", source="Orphanet:319298", source="Orphanet:319298/ntbt", source="Orphanet:47044/attributed", source="Orphanet:47044/ntbt"} +xref: icd11.foundation:77005587 {source="MONDO:equivalentTo"} xref: MESH:C538614 {source="DOID:4465", source="Orphanet:47044", source="Orphanet:47044/e"} xref: MESH:D002292 {source="DOID:4465"} xref: NCIT:C27890 {source="DOID:4465"} @@ -382440,6 +385180,7 @@ subset: rare synonym: "Tubulocystic renal cell cancer" EXACT [NCIT:C126303] xref: GARD:21419 {source="Orphanet:319325"} xref: ICD10CM:C64 {source="Orphanet:319325/ntbt", source="Orphanet:319325"} +xref: icd11.foundation:2132213859 {source="MONDO:equivalentTo"} xref: NCIT:C126303 {source="MONDO:equivalentTo"} xref: Orphanet:319325 {source="MONDO:equivalentTo"} xref: SCTID:733603009 {source="MONDO:equivalentTo"} @@ -382863,6 +385604,7 @@ synonym: "xerocytosis hereditary" RELATED [GARD:0005623] xref: DOID:0111575 {source="MONDO:equivalentTo"} xref: GARD:5623 {source="Orphanet:3202"} xref: ICD10CM:D58.8 {source="Orphanet:3202", source="Orphanet:3202/attributed", source="Orphanet:3202/ntbt"} +xref: icd11.foundation:799088159 {source="MONDO:equivalentTo"} xref: Orphanet:3202 {source="GARD:0005623", source="MONDO:equivalentTo"} xref: SCTID:715526002 {source="MONDO:equivalentTo"} xref: UMLS:C0272051 {source="GARD:0005623", source="Orphanet:3202", source="MONDO:notFoundInDiseaseSubset"} @@ -383097,6 +385839,7 @@ synonym: "WL syndrome" EXACT [Orphanet:3237] xref: DOID:0050794 {source="MONDO:equivalentTo"} xref: GARD:3836 {source="Orphanet:3237"} xref: ICD10CM:Q78.8 {source="Orphanet:3237/attributed", source="Orphanet:3237/ntbt", source="Orphanet:3237"} +xref: icd11.foundation:248917534 {source="MONDO:equivalentTo"} xref: OMIMPS:186500 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:3237 {source="MONDO:equivalentTo"} xref: UMLS:C0175700 {source="Orphanet:3237", source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="Orphanet:3237/e"} @@ -383859,6 +386602,7 @@ synonym: "empty scrotum" RELATED [GARD:0005819] xref: GARD:5819 {source="Orphanet:325124"} xref: ICD10CM:Q55.0 {source="Orphanet:325124/attributed", source="Orphanet:325124/ntbt", source="Orphanet:325124"} xref: icd11.foundation:1382370664 {source="MONDO:equivalentTo", source="Orphanet:325124"} +xref: icd11.foundation:1382370664 {source="MONDO:equivalentTo"} xref: Orphanet:325124 {source="MONDO:equivalentTo"} xref: SCTID:371015003 {source="MONDO:equivalentTo"} is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder @@ -384060,6 +386804,7 @@ xref: DOID:6688 {source="MONDO:equivalentTo"} xref: GARD:8686 {source="Orphanet:3261"} xref: ICD10CM:D47.9 {source="DOID:6688", source="Orphanet:3261/attributed", source="Orphanet:3261/ntbt", source="Orphanet:3261"} xref: ICD10CM:D89.82 {source="DOID:6688"} +xref: icd11.foundation:1072688797 {source="MONDO:equivalentTo"} xref: ICD9:279.41 {source="DOID:6688"} xref: MedDRA:10069521 {source="Orphanet:3261/e", source="Orphanet:3261"} xref: MESH:D056735 {source="DOID:6688", source="Orphanet:3261/e", source="MONDO:equivalentTo", source="Orphanet:3261"} @@ -384127,6 +386872,7 @@ subset: rare synonym: "humero-radio-ulnar fusion" EXACT [Orphanet:3266] xref: GARD:2749 {source="Orphanet:3266"} xref: ICD10CM:Q74.0 {source="Orphanet:3266", source="Orphanet:3266/attributed", source="Orphanet:3266/ntbt"} +xref: icd11.foundation:1798339866 {source="MONDO:equivalentTo"} xref: icd11.foundation:1798339866 {source="Orphanet:3266", source="MONDO:equivalentTo"} xref: Orphanet:3266 {source="MONDO:equivalentTo"} is_a: MONDO:0001411 {source="PMID:12370583", source="https://orcid.org/0009-0001-6494-4831"} ! synostosis @@ -384248,6 +386994,7 @@ synonym: "multifocal atrial tachycardia (disease)" EXACT [https://orcid.org/0000 xref: GARD:1235 {source="Orphanet:3282"} xref: HP:0011701 {source="MONDO:otherHierarchy"} xref: ICD10CM:I47.1 {source="Orphanet:3282", source="Orphanet:3282/ntbt"} +xref: icd11.foundation:262929566 {source="MONDO:equivalentTo"} xref: ICD9:427.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:3282 {source="MONDO:equivalentTo"} xref: SCTID:49982000 {source="MONDO:equivalentTo"} @@ -384305,6 +387052,7 @@ synonym: "ventricular tachycardia, catecholaminergic polymorphic" EXACT [OMIMPS: xref: DOID:0060674 {source="MONDO:equivalentTo"} xref: GARD:4421 {source="Orphanet:3286"} xref: ICD10CM:I47.2 {source="MONDO:relatedTo", source="DOID:0060674", source="Orphanet:3286/attributed", source="Orphanet:3286/ntbt", source="Orphanet:3286"} +xref: icd11.foundation:976309888 {source="MONDO:equivalentTo"} xref: icd11.foundation:976309888 {source="MONDO:equivalentTo", source="Orphanet:3286"} xref: MESH:C536334 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/2210"} xref: OMIMPS:604772 {source="DOID:0060674", source="MONDO:equivalentTo"} @@ -384752,6 +387500,7 @@ subset: orphanet_rare {source="Orphanet:329967"} subset: rare xref: GARD:21499 {source="Orphanet:329967"} xref: ICD10CM:M12.4 {source="Orphanet:329967", source="MONDO:equivalentTo", source="Orphanet:329967/e", source="Orphanet:329967/specific"} +xref: icd11.foundation:1855039383 {source="MONDO:equivalentTo"} xref: icd11.foundation:1855039383 {source="Orphanet:329967", source="MONDO:equivalentTo"} xref: Orphanet:329967 {source="MONDO:equivalentTo"} xref: SCTID:711286009 {source="MONDO:equivalentTo"} @@ -384973,6 +387722,7 @@ subset: rare synonym: "hV" RELATED [GARD:0009654] xref: GARD:9654 {source="Orphanet:330058"} xref: ICD10CM:L56.4 {source="Orphanet:330058/ntbt", source="Orphanet:330058"} +xref: icd11.foundation:2053786485 {source="MONDO:equivalentTo"} xref: MESH:D006837 {source="MONDO:equivalentTo"} xref: NCIT:C84766 {source="MONDO:equivalentTo"} xref: Orphanet:330058 {source="MONDO:equivalentTo"} @@ -384994,6 +387744,7 @@ synonym: "actinic reticuloid" EXACT [Orphanet:330064] synonym: "chronic photosensitivity dermatitis" EXACT [Orphanet:330064] xref: GARD:21506 {source="Orphanet:330064"} xref: ICD10CM:L57.8 {source="Orphanet:330064", source="Orphanet:330064/ntbt"} +xref: icd11.foundation:248339081 {source="MONDO:equivalentTo"} xref: icd11.foundation:248339081 {source="Orphanet:330064", source="MONDO:equivalentTo"} xref: ICD9:692.73 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:330064 {source="MONDO:equivalentTo"} @@ -385128,6 +387879,7 @@ synonym: "tetrasomy of short arm of chromosome 9" RELATED [GARD:0000042] synonym: "tetrasomy type 9p" EXACT [MONDORULE:4, Orphanet:3310] xref: GARD:42 {source="Orphanet:3310"} xref: ICD10CM:Q99.8 {source="Orphanet:3310", source="Orphanet:3310/attributed", source="Orphanet:3310/ntbt"} +xref: icd11.foundation:1426428869 {source="MONDO:equivalentTo"} xref: MESH:C538027 {source="Orphanet:3310", source="MONDO:equivalentTo", source="Orphanet:3310/e"} xref: NORD:964 {source="MONDO:NORD"} xref: Orphanet:3310 {source="MONDO:equivalentTo"} @@ -385195,6 +387947,7 @@ synonym: "thalidomide embryopathy syndrome" EXACT [NCIT:C99082] synonym: "thalidomide-induced birth defect" EXACT [NCIT:C99082] xref: GARD:2313 {source="Orphanet:3312"} xref: ICD10CM:Q86.8 {source="Orphanet:3312", source="Orphanet:3312/ntbt"} +xref: icd11.foundation:299085643 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10071249 {source="Orphanet:3312", source="Orphanet:3312/e"} xref: NCIT:C99082 {source="MONDO:equivalentTo"} @@ -385361,6 +388114,7 @@ synonym: "idiopathic hypersomnolence" RELATED [GARD:0008737] synonym: "primary hypersomnia" EXACT [Orphanet:33208] xref: GARD:8737 {source="Orphanet:33208"} xref: ICD10CM:F51.1 {source="Orphanet:33208", source="Orphanet:33208/e"} +xref: icd11.foundation:631826564 {source="MONDO:equivalentTo"} xref: icd11.foundation:631826564 {source="MONDO:equivalentTo", source="Orphanet:33208"} xref: MESH:D020177 {source="MONDO:equivalentTo"} xref: NCIT:C116343 {source="MONDO:equivalentTo"} @@ -385389,6 +388143,7 @@ synonym: "Hoyeraal Hreidarsson syndrome" RELATED [GARD:0000346] synonym: "progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome" EXACT [Orphanet:3322] xref: GARD:346 {source="Orphanet:3322"} xref: ICD10CM:D61.0 {source="Orphanet:3322/attributed", source="Orphanet:3322/ntbt", source="Orphanet:3322"} +xref: icd11.foundation:340127408 {source="MONDO:equivalentTo"} xref: MESH:C536068 {source="Orphanet:3322", source="MONDO:equivalentTo", source="Orphanet:3322/e"} xref: Orphanet:3322 {source="MONDO:equivalentTo"} xref: SCTID:707276009 {source="MONDO:equivalentTo"} @@ -385448,6 +388203,7 @@ synonym: "HIT" EXACT ABBREVIATION [Orphanet:3325] xref: GARD:2650 {source="Orphanet:3325"} xref: HP:0011874 {source="MONDO:otherHierarchy"} xref: ICD10CM:D69.5 {source="Orphanet:3325/ntbt", source="Orphanet:3325"} +xref: icd11.foundation:1143142333 {source="MONDO:equivalentTo"} xref: ICD9:289.84 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10062506 {source="Orphanet:3325", source="Orphanet:3325/e"} xref: Orphanet:3325 {source="MONDO:equivalentTo"} @@ -385540,6 +388296,7 @@ synonym: "trichothiodystrophy syndrome" EXACT [NCIT:C4924] xref: DOID:0111866 {source="MONDO:equivalentTo"} xref: GARD:12109 {source="Orphanet:33364"} xref: ICD10CM:L67.8 {source="Orphanet:33364/attributed", source="Orphanet:33364/ntbt", source="Orphanet:33364"} +xref: icd11.foundation:1366758649 {source="MONDO:equivalentTo"} xref: MedDRA:10044628 {source="Orphanet:33364/e", source="Orphanet:33364"} xref: MESH:C536559 {source="Orphanet:33364/e", source="Orphanet:33364"} xref: MESH:D054463 {source="Orphanet:33364/e", source="Orphanet:33364"} @@ -385574,6 +388331,7 @@ synonym: "hereditary atrial fibrillation (disease)" EXACT [MONDO:patterns/heredi xref: DOID:0050650 {source="MONDO:equivalentTo"} xref: GARD:9740 {source="Orphanet:334"} xref: ICD10CM:I48.9 {source="Orphanet:334", source="Orphanet:334/attributed", source="Orphanet:334/ntbt"} +xref: icd11.foundation:45855978 {source="MONDO:equivalentTo"} xref: OMIMPS:608583 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:334 {source="DOID:0050650", source="MONDO:equivalentTo"} xref: SCTID:715395008 {source="MONDO:equivalentTo"} @@ -385631,6 +388389,7 @@ subset: orphanet_rare {source="Orphanet:33408"} subset: rare xref: GARD:18808 {source="Orphanet:33408"} xref: ICD10CM:L43.1 {source="MONDO:equivalentTo", source="Orphanet:33408", source="Orphanet:33408/e"} +xref: icd11.foundation:606709958 {source="MONDO:equivalentTo"} xref: MedDRA:10056960 {source="Orphanet:33408", source="Orphanet:33408/e"} xref: NCIT:C34778 {source="MONDO:equivalentTo"} xref: Orphanet:33408 {source="MONDO:equivalentTo"} @@ -385687,6 +388446,7 @@ xref: ICD10CM:A39.0 {source="DOID:0080176", source="MONDO:equivalentTo", source= xref: ICD10EXP:A39.0+ {source="Orphanet:33475/e", source="Orphanet:33475"} xref: ICD10EXP:G01* {source="Orphanet:33475/e", source="Orphanet:33475"} xref: icd11.foundation:516585689 {source="MONDO:equivalentTo", source="Orphanet:33475"} +xref: icd11.foundation:516585689 {source="MONDO:equivalentTo"} xref: ICD9:036.0 {source="DOID:0080176", source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1001040"} xref: MedDRA:10027249 {source="Orphanet:33475/e", source="Orphanet:33475"} xref: MedDRA:10027276 {source="EFO:1001040"} @@ -385883,6 +388643,7 @@ synonym: "triploid syndrome" RELATED [GARD:0005295] synonym: "triploidy syndrome" RELATED [GARD:0005295] xref: GARD:5295 {source="Orphanet:3376"} xref: ICD10CM:Q92.7 {source="Orphanet:3376", source="Orphanet:3376/attributed", source="Orphanet:3376/ntbt"} +xref: icd11.foundation:1900317965 {source="MONDO:equivalentTo"} xref: icd11.foundation:1900317965 {source="Orphanet:3376", source="MONDO:equivalentTo"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D057885 {source="Orphanet:3376", source="MONDO:equivalentTo", source="Orphanet:3376/e"} @@ -386120,6 +388881,7 @@ synonym: "tuberculosis disease" EXACT [NCIT:C3423] xref: DOID:399 {source="MONDO:equivalentTo"} xref: GARD:7827 {source="Orphanet:3389"} xref: ICD10CM:A15-A19 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} +xref: icd11.foundation:2072728114 {source="MONDO:equivalentTo"} xref: ICD9:017.90 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:017.92 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:017.94 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -386464,6 +389226,7 @@ xref: DOID:2987 {source="MONDO:equivalentTo"} xref: GARD:6421 {source="Orphanet:342"} xref: ICD10CM:E85.0 {source="DOID:2987", source="Orphanet:342/ntbt", source="Orphanet:342/inclusion", source="Orphanet:342"} xref: icd11.foundation:1373335705 {source="MONDO:equivalentTo", source="Orphanet:342"} +xref: icd11.foundation:1373335705 {source="MONDO:equivalentTo"} xref: ICD9:277.31 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2987"} xref: MedDRA:10016207 {source="Orphanet:342/e", source="Orphanet:342"} xref: MESH:D010505 {source="Orphanet:342/e", source="MONDO:equivalentTo", source="DOID:2987", source="Orphanet:342"} @@ -386498,6 +389261,7 @@ xref: DOID:6406 {source="MONDO:equivalentTo"} xref: GARD:1908 {source="Orphanet:3426"} xref: ICD10CM:Q20.1 {source="MONDO:equivalentTo", source="Orphanet:3426", source="Orphanet:3426/specific", source="Orphanet:3426/e"} xref: icd11.foundation:141717788 {source="MONDO:equivalentTo", source="Orphanet:3426"} +xref: icd11.foundation:141717788 {source="MONDO:equivalentTo"} xref: MedDRA:10013611 {source="Orphanet:3426", source="Orphanet:3426/e"} xref: MESH:D004310 {source="DOID:6406", source="MONDO:equivalentTo", source="Orphanet:3426", source="Orphanet:3426/e"} xref: NCIT:C98916 {source="DOID:6406", source="MONDO:equivalentTo"} @@ -386527,6 +389291,7 @@ xref: GARD:1907 {source="Orphanet:3427"} xref: HP:0011581 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q20.2 {source="Orphanet:3427", source="Orphanet:3427/e"} xref: icd11.foundation:2094997989 {source="MONDO:equivalentTo", source="Orphanet:3427"} +xref: icd11.foundation:2094997989 {source="MONDO:equivalentTo"} xref: ICD9:745.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:3427 {source="MONDO:equivalentTo"} xref: SCTID:7368005 {source="MONDO:equivalentTo"} @@ -386645,6 +389410,7 @@ synonym: "Waardenburg, types I and/or II" NARROW [DOID:9258] xref: DOID:9258 {source="MONDO:equivalentTo"} xref: GARD:5525 {source="Orphanet:3440"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:3440/index", source="Orphanet:3440/ntbt", source="Orphanet:3440"} +xref: icd11.foundation:304883627 {source="MONDO:equivalentTo"} xref: MedDRA:10069203 {source="Orphanet:3440/e", source="Orphanet:3440"} xref: MESH:D014849 {source="https://orcid.org/0000-0003-1967-3726", source="Orphanet:3440/e", source="MONDO:equivalentTo", source="DOID:9258", source="Orphanet:3440"} xref: NCIT:C75008 {source="DOID:9258"} @@ -386927,6 +389693,7 @@ synonym: "Wolfram syndrome" EXACT CLINGEN_LABEL [] xref: DOID:10632 {source="MONDO:equivalentTo"} xref: GARD:7898 {source="Orphanet:3463"} xref: ICD10CM:E13.8 {source="Orphanet:3463", source="Orphanet:3463/attributed", source="Orphanet:3463/ntbt"} +xref: icd11.foundation:151381747 {source="MONDO:equivalentTo"} xref: ICD9:250.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D014929 {source="DOID:10632", source="Orphanet:3463", source="MONDO:equivalentTo", source="Orphanet:3463/e"} xref: NCIT:C35133 {source="DOID:10632", source="MONDO:equivalentTo"} @@ -387017,6 +389784,7 @@ subset: orphanet_rare {source="Orphanet:35063"} subset: rare xref: GARD:18812 {source="Orphanet:35063"} xref: ICD10CM:K72 {source="Orphanet:35063", source="Orphanet:35063/ntbt"} +xref: icd11.foundation:369649302 {source="MONDO:equivalentTo"} xref: MedDRA:10019772 xref: Orphanet:35063 {source="MONDO:equivalentTo"} is_a: MONDO:0002251 {source="https://orcid.org/0000-0001-5208-3432"} ! hepatitis @@ -387768,6 +390536,7 @@ xref: DOID:3322 {source="MONDO:equivalentTo"} xref: GARD:10891 {source="Orphanet:354"} xref: ICD10CM:E75.1 {source="Orphanet:354/ntbt", source="Orphanet:354/inclusion", source="Orphanet:354"} xref: ICD10CM:E75.19 {source="DOID:3322"} +xref: icd11.foundation:401105928 {source="MONDO:equivalentTo"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016537 {source="DOID:3322", source="Orphanet:354/e", source="MONDO:equivalentTo", source="Orphanet:354"} xref: NCIT:C84739 {source="DOID:3322", source="MONDO:equivalentTo"} @@ -387821,6 +390590,7 @@ xref: DOID:1926 {source="MONDO:equivalentTo"} xref: GARD:8233 {source="Orphanet:355"} xref: ICD10CM:E75.2 {source="Orphanet:355/ntbt", source="Orphanet:355/inclusion", source="Orphanet:355"} xref: ICD10CM:E75.22 {source="MONDO:equivalentTo", source="DOID:1926"} +xref: icd11.foundation:1923566939 {source="MONDO:equivalentTo"} xref: MedDRA:10018048 {source="Orphanet:355/e", source="Orphanet:355"} xref: MESH:D005776 {source="Orphanet:355/e", source="MONDO:equivalentTo", source="DOID:1926", source="Orphanet:355"} xref: NCIT:C61268 {source="MONDO:equivalentTo", source="DOID:1926"} @@ -387851,6 +390621,7 @@ synonym: "CoQ10 deficiency" EXACT [Orphanet:35656] synonym: "CoQ10 deficiency, primary" RELATED [GARD:0010423] xref: DOID:0050730 {source="MONDO:equivalentTo"} xref: GARD:10423 {source="Orphanet:35656"} +xref: icd11.foundation:1251664337 {source="MONDO:equivalentTo"} xref: icd11.foundation:1251664337 {source="Orphanet:35656", source="MONDO:equivalentTo"} xref: MESH:C564403 {source="MONDO:equivalentTo"} xref: NCIT:C142083 {source="MONDO:equivalentTo"} @@ -387885,6 +390656,7 @@ synonym: "peripapillary choriopathy" RELATED [GARD:0000031] synonym: "serpiginous choroidopathy" RELATED [GARD:0000031] xref: GARD:31 {source="Orphanet:35686"} xref: ICD10CM:H30.8 {source="Orphanet:35686/ntbt", source="Orphanet:35686"} +xref: icd11.foundation:1404422398 {source="MONDO:equivalentTo"} xref: ICD9:363.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NORD:933 {source="MONDO:NORD"} xref: Orphanet:35686 {source="MONDO:equivalentTo"} @@ -387918,6 +390690,8 @@ xref: DOID:4329 {source="EFO:1000926", source="MONDO:equivalentTo"} xref: EFO:1000926 {source="MONDO:equivalentTo"} xref: GARD:6369 {source="Orphanet:35687"} xref: ICD10CM:D76.3 {source="Orphanet:35687/ntbt", source="Orphanet:35687"} +xref: icd11.foundation:1395439137 {source="MONDO:equivalentTo"} +xref: icd11.foundation:146718003 {source="MONDO:equivalentTo"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10060801 {source="EFO:1000926", source="Orphanet:35687/e", source="Orphanet:35687"} xref: MESH:D031249 {source="EFO:1000926", source="Orphanet:35687/e", source="MONDO:equivalentTo", source="DOID:4329", source="Orphanet:35687"} @@ -387943,6 +390717,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:35688"} subset: orphanet_rare {source="Orphanet:35688"} subset: rare xref: ICD10CM:Q74.0 {source="Orphanet:35688", source="Orphanet:35688/ntbt", source="Orphanet:35688/inclusion"} +xref: icd11.foundation:1398663515 {source="MONDO:equivalentTo"} xref: ICD9:755.54 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10007700 {source="Orphanet:35688", source="Orphanet:35688/e"} xref: MESH:C562398 {source="MONDO:equivalentTo"} @@ -388230,6 +391005,7 @@ xref: EFO:1001818 {source="MONDO:equivalentTo"} xref: GARD:7264 {source="Orphanet:357154"} xref: ICD10CM:K13.5 {source="DOID:5773", source="Orphanet:357154/e", source="MONDO:equivalentTo", source="Orphanet:357154"} xref: icd11.foundation:1798376929 {source="MONDO:equivalentTo", source="Orphanet:357154"} +xref: icd11.foundation:1798376929 {source="MONDO:equivalentTo"} xref: ICD9:528.8 {source="DOID:5773", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D009914 {source="DOID:5773", source="MONDO:equivalentTo"} xref: NCIT:C34866 {source="DOID:5773", source="MONDO:equivalentTo"} @@ -388251,6 +391027,7 @@ subset: orphanet_rare {source="Orphanet:357220"} subset: rare xref: GARD:21537 {source="Orphanet:357220"} xref: ICD10CM:Q82.8 {source="Orphanet:357220/ntbt", source="Orphanet:357220"} +xref: icd11.foundation:895947895 {source="MONDO:equivalentTo"} xref: Orphanet:357220 {source="MONDO:equivalentTo"} xref: SCTID:765135003 {source="MONDO:equivalentTo"} xref: UMLS:C4707327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -388266,6 +391043,7 @@ subset: orphanet_rare {source="Orphanet:357225"} subset: rare xref: GARD:21538 {source="Orphanet:357225"} xref: ICD10CM:Q82.8 {source="Orphanet:357225/attributed", source="Orphanet:357225/ntbt", source="Orphanet:357225"} +xref: icd11.foundation:129937701 {source="MONDO:equivalentTo"} xref: Orphanet:357225 {source="MONDO:equivalentTo"} xref: UMLS:C4755295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005093 {source="MONDO:0018798-obsoleted"} ! skin disorder @@ -388436,6 +391214,7 @@ synonym: "familial multiple coagulation factor deficiency" EXACT [Orphanet:35909 synonym: "FV and FVIII combined deficiency" EXACT [Orphanet:35909] xref: GARD:16639 {source="Orphanet:35909"} xref: ICD10CM:D68.8 {source="Orphanet:35909/attributed", source="Orphanet:35909/ntbt", source="Orphanet:35909"} +xref: icd11.foundation:184219764 {source="MONDO:equivalentTo"} xref: Orphanet:35909 {source="MONDO:equivalentTo"} xref: SCTID:715559004 {source="MONDO:equivalentTo"} xref: UMLS:C1856883 {source="MONDO:equivalentTo", source="Orphanet:35909"} @@ -388520,6 +391299,7 @@ xref: GARD:12331 {source="Orphanet:36204"} xref: HP:0002593 {source="MONDO:otherHierarchy"} xref: ICD10CM:I89.0 {source="Orphanet:36204/ntbt", source="Orphanet:36204"} xref: icd11.foundation:1255239964 {source="MONDO:equivalentTo", source="Orphanet:36204"} +xref: icd11.foundation:1255239964 {source="MONDO:equivalentTo"} xref: ICD9:457.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10025213 {source="Orphanet:36204/e", source="Orphanet:36204"} xref: MESH:D008201 {source="Orphanet:36204/e", source="Orphanet:36204"} @@ -388573,6 +391353,7 @@ xref: DOID:9063 {source="MONDO:equivalentTo", source="EFO:0007473"} xref: EFO:0007473 {source="MONDO:equivalentTo"} xref: GARD:13158 {source="Orphanet:36236"} xref: ICD10CM:L00 {source="Orphanet:36236/e", source="DOID:9063", source="MONDO:equivalentTo", source="Orphanet:36236"} +xref: icd11.foundation:1554593739 {source="MONDO:equivalentTo"} xref: icd11.foundation:1554593739 {source="MONDO:equivalentTo", source="Orphanet:36236"} xref: ICD9:695.81 {source="DOID:9063", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10041929 {source="Orphanet:36236/e", source="Orphanet:36236"} @@ -388607,6 +391388,7 @@ xref: GARD:18820 {source="Orphanet:36237"} xref: ICD10CM:L01.0 {source="Orphanet:36237/ntbt", source="Orphanet:36237"} xref: ICD10CM:L01.03 {source="MONDO:equivalentTo"} xref: icd11.foundation:1398484288 {source="MONDO:equivalentTo", source="Orphanet:36237"} +xref: icd11.foundation:1398484288 {source="MONDO:equivalentTo"} xref: MedDRA:10006563 {source="Orphanet:36237/e", source="Orphanet:36237"} xref: Orphanet:36237 {source="MONDO:equivalentTo"} xref: SCTID:399183005 {source="MONDO:equivalentTo"} @@ -389104,6 +391886,7 @@ synonym: "optic ataxia-gaze apraxia-simultanagnosia syndrome" EXACT [Orphanet:36 synonym: "psychic paralysis of visual fixation" EXACT [https://orcid.org/0000-0002-6601-2165, PMID:13208876] xref: GARD:21558 {source="Orphanet:363746"} xref: ICD10CM:H51.8 {source="Orphanet:363746", source="Orphanet:363746/ntbt"} +xref: icd11.foundation:491228434 {source="MONDO:equivalentTo"} xref: Orphanet:363746 {source="MONDO:equivalentTo"} xref: SCTID:765212008 {source="MONDO:equivalentTo"} xref: UMLS:C0270706 {source="MONDO:equivalentObsolete", source="Orphanet:363746"} @@ -389376,6 +392159,7 @@ synonym: "hydroa vacciniforme-like lymphoproliferative disorder" EXACT [NCIT:C45 synonym: "hydroa-like cutaneous T-cell lymphoma" EXACT [Orphanet:364039] xref: GARD:21563 {source="Orphanet:364039"} xref: ICD10CM:C84.5 {source="Orphanet:364039", source="Orphanet:364039/ntbt"} +xref: icd11.foundation:42531582 {source="MONDO:equivalentTo"} xref: ICDO:9725/3 {source="NCIT:C45327"} xref: NCIT:C45327 {source="MONDO:equivalentTo"} xref: Orphanet:364039 {source="MONDO:equivalentTo"} @@ -389403,6 +392187,7 @@ synonym: "diffuse large B-cell lymphoma with expression of full-length anaplasti xref: GARD:21564 {source="Orphanet:364043"} xref: ICD10CM:C83.3 {source="Orphanet:364043", source="Orphanet:364043/ntbt"} xref: icd11.foundation:2077559619 {source="Orphanet:364043", source="MONDO:equivalentTo"} +xref: icd11.foundation:2077559619 {source="MONDO:equivalentTo"} xref: ICDO:9737/3 {source="NCIT:C7225"} xref: NCIT:C7225 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: Orphanet:364043 {source="MONDO:equivalentTo"} @@ -389496,6 +392281,7 @@ xref: GARD:7700 {source="Orphanet:36426"} xref: ICD10CM:L51.1 {source="Orphanet:36426", source="Orphanet:36426/ntbt", source="MONDO:equivalentTo", source="DOID:0050426"} xref: ICD10CM:L51.2 {source="DOID:0050426"} xref: icd11.foundation:450167795 {source="Orphanet:36426", source="MONDO:equivalentTo"} +xref: icd11.foundation:450167795 {source="MONDO:equivalentTo"} xref: ICD9:695.12 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:695.13 {source="EFO:0004276", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:0050426"} xref: ICD9:695.15 {source="DOID:0050426"} @@ -389735,6 +392521,7 @@ synonym: "autoimmune hypoparathyroidism (disease)" EXACT [https://orcid.org/0000 xref: GARD:18824 {source="Orphanet:36913"} xref: HP:0011771 {source="MONDO:otherHierarchy"} xref: ICD10CM:E20.8 {source="Orphanet:36913/ntbt", source="Orphanet:36913"} +xref: icd11.foundation:1790437089 {source="MONDO:equivalentTo"} xref: icd11.foundation:1790437089 {source="Orphanet:36913", source="MONDO:equivalentTo"} xref: Orphanet:36913 {source="MONDO:equivalentTo"} xref: SCTID:75316000 {source="MONDO:equivalentTo"} @@ -390784,6 +393571,7 @@ xref: EFO:1000869 {source="MONDO:equivalentTo"} xref: GARD:18825 {source="Orphanet:37202"} xref: ICD10CM:N30.1 {source="Orphanet:37202/e", source="DOID:1678", source="Orphanet:37202"} xref: icd11.foundation:1650709285 {source="MONDO:equivalentTo", source="Orphanet:37202"} +xref: icd11.foundation:1650709285 {source="MONDO:equivalentTo"} xref: ICD9:595.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1678", source="EFO:1000869"} xref: MedDRA:10008927 {source="EFO:1000869"} xref: MedDRA:10011796 {source="Orphanet:37202/e", source="Orphanet:37202"} @@ -390840,6 +393628,7 @@ xref: DOID:4371 {source="EFO:1001165", source="MONDO:equivalentTo"} xref: EFO:1001165 {source="MONDO:equivalentTo"} xref: GARD:12390 {source="Orphanet:37748"} xref: ICD10CM:L50.8 {source="Orphanet:37748", source="Orphanet:37748/ntbt"} +xref: icd11.foundation:1867840545 {source="MONDO:equivalentTo"} xref: ICD9:708.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10062908 {source="Orphanet:37748", source="Orphanet:37748/e"} xref: MESH:D019873 {source="EFO:1001165", source="Orphanet:37748", source="MONDO:equivalentTo", source="Orphanet:37748/e", source="DOID:4371"} @@ -390872,6 +393661,7 @@ synonym: "Quie syndrome" EXACT [DOID:3265] xref: DOID:3265 {source="MONDO:equivalentTo"} xref: GARD:6100 {source="Orphanet:379"} xref: ICD10CM:D71 {source="DOID:3265", source="Orphanet:379", source="Orphanet:379/ntbt", source="Orphanet:379/inclusion"} +xref: icd11.foundation:1329764681 {source="MONDO:equivalentTo"} xref: MedDRA:10008906 {source="Orphanet:379", source="Orphanet:379/e"} xref: MESH:D006105 {source="DOID:3265", source="Orphanet:379", source="MONDO:equivalentTo", source="Orphanet:379/e"} xref: NCIT:C26788 {source="DOID:3265", source="MONDO:equivalentTo"} @@ -390941,6 +393731,7 @@ synonym: "neurodegeneration with brain iron accumulation" EXACT CLINGEN_LABEL [] xref: DOID:0110734 {source="MONDO:equivalentTo"} xref: GARD:11899 {source="Orphanet:385"} xref: ICD10CM:G23.0 {source="DOID:0110734", source="Orphanet:385/attributed", source="Orphanet:385/ntbt", source="Orphanet:385"} +xref: icd11.foundation:440483530 {source="MONDO:equivalentTo"} xref: MESH:C538421 {source="DOID:0110734", source="Orphanet:385/e", source="MONDO:equivalentTo", source="Orphanet:385"} xref: OMIMPS:234200 {source="DOID:0110734", source="MONDO:equivalentTo"} xref: Orphanet:385 {source="DOID:0110734", source="MONDO:equivalentTo"} @@ -391009,6 +393800,7 @@ synonym: "total intestinal aganglionosis" NARROW EXCLUDE [DOID:10487] xref: DOID:10487 {source="MONDO:equivalentTo"} xref: GARD:6660 {source="Orphanet:388"} xref: ICD10CM:Q43.1 {source="Orphanet:388/specific", source="Orphanet:388/e", source="DOID:10487", source="Orphanet:388"} +xref: icd11.foundation:1772690306 {source="MONDO:equivalentTo"} xref: icd11.foundation:1772690306 {source="MONDO:equivalentTo", source="Orphanet:388"} xref: MedDRA:10010539 {source="Orphanet:388/e", source="Orphanet:388"} xref: MESH:D006627 {source="Orphanet:388/e", source="MONDO:equivalentTo", source="DOID:10487", source="Orphanet:388"} @@ -391074,7 +393866,9 @@ xref: GARD:6858 {source="Orphanet:389"} xref: ICD10CM:C96.0 {source="DOID:2571", source="Orphanet:389", source="Orphanet:389/btnt"} xref: ICD10CM:C96.5 {source="DOID:2571", source="Orphanet:389", source="Orphanet:389/btnt"} xref: ICD10CM:C96.6 {source="DOID:2571", source="Orphanet:389", source="Orphanet:389/btnt"} +xref: icd11.foundation:1388720498 {source="MONDO:equivalentTo"} xref: icd11.foundation:216625985 {source="Orphanet:389", source="MONDO:equivalentTo"} +xref: icd11.foundation:216625985 {source="MONDO:equivalentTo"} xref: ICD9:202.5 {source="DOID:2571"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9751/1 {source="NCIT:C3107"} @@ -391165,6 +393959,7 @@ xref: ICD10CM:B39.3 {source="Orphanet:390", source="Orphanet:390/btnt"} xref: ICD10CM:B39.4 {source="Orphanet:390", source="Orphanet:390/btnt"} xref: ICD10CM:B39.5 {source="Orphanet:390", source="Orphanet:390/btnt"} xref: ICD10CM:B39.9 {source="DOID:1731", source="Orphanet:390", source="Orphanet:390/btnt"} +xref: icd11.foundation:1303003466 {source="MONDO:equivalentTo"} xref: icd11.foundation:1553838370 {source="MONDO:equivalentTo", source="Orphanet:390", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:115 {source="DOID:1731"} xref: ICD9:115.9 {source="DOID:1731"} @@ -391432,6 +394227,7 @@ synonym: "transient neonatal acquired myasthenia" EXACT [Orphanet:391504] synonym: "transient neonatal autoimmune myasthenia gravis" EXACT [Orphanet:391504] xref: GARD:21625 {source="Orphanet:391504"} xref: ICD10CM:P94.0 {source="Orphanet:391504", source="MONDO:equivalentTo", source="Orphanet:391504/e"} +xref: icd11.foundation:2096990223 {source="MONDO:equivalentTo"} xref: icd11.foundation:2096990223 {source="Orphanet:391504", source="MONDO:equivalentTo"} xref: NCIT:C117308 {source="MONDO:equivalentTo"} xref: Orphanet:391504 {source="MONDO:equivalentTo"} @@ -391892,6 +394688,7 @@ xref: ICD10CM:C60.2 {source="Orphanet:398058", source="Orphanet:398058/ntbt"} xref: ICD10CM:C60.8 {source="Orphanet:398058", source="Orphanet:398058/ntbt"} xref: ICD10CM:C60.9 {source="Orphanet:398058", source="Orphanet:398058/ntbt"} xref: icd11.foundation:186592209 {source="Orphanet:398058", source="MONDO:equivalentTo"} +xref: icd11.foundation:186592209 {source="MONDO:equivalentTo"} xref: NCIT:C6979 {source="DOID:5518"} xref: NCIT:C7729 {source="MONDO:equivalentTo", source="DOID:5518"} xref: ONCOTREE:PSCC {source="MONDO:equivalentTo"} @@ -392051,6 +394848,7 @@ synonym: "neonatal systemic lupus erythematosus" RELATED [GARD:0009563] xref: EFO:0004537 {source="MONDO:equivalentTo"} xref: GARD:21647 {source="Orphanet:398124"} xref: ICD10CM:M32.8 {source="Orphanet:398124", source="Orphanet:398124/ntbt"} +xref: icd11.foundation:213855225 {source="MONDO:equivalentTo"} xref: icd11.foundation:213855225 {source="Orphanet:398124", source="MONDO:equivalentTo"} xref: MESH:C536397 {source="MONDO:equivalentTo"} xref: NCIT:C99236 {source="MONDO:equivalentTo", source="EFO:0004537"} @@ -392089,6 +394887,7 @@ synonym: "atypical facial pain" EXACT [Orphanet:398147] synonym: "PIFP" EXACT ABBREVIATION [Orphanet:398147] xref: GARD:21649 {source="Orphanet:398147"} xref: ICD10CM:G50.1 {source="Orphanet:398147", source="Orphanet:398147/e"} +xref: icd11.foundation:1799118131 {source="MONDO:equivalentTo"} xref: Orphanet:398147 {source="MONDO:equivalentTo"} is_a: MONDO:0005071 {source="Orphanet:398147"} ! nervous system disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare @@ -392106,6 +394905,7 @@ subset: rare synonym: "FFDD" EXACT ABBREVIATION [Orphanet:398166] xref: GARD:8416 {source="Orphanet:398166"} xref: ICD10CM:Q82.8 {source="Orphanet:398166", source="Orphanet:398166/attributed", source="Orphanet:398166/ntbt"} +xref: icd11.foundation:1200544726 {source="MONDO:equivalentTo"} xref: MESH:C537068 {source="MONDO:equivalentTo"} xref: OMIMPS:136500 {source="MONDO:equivalentTo"} xref: Orphanet:398166 {source="MONDO:equivalentTo"} @@ -393474,6 +396274,7 @@ subset: rare xref: GARD:21715 {source="Orphanet:402035"} xref: ICD10CM:K52.8 {source="Orphanet:402035/ntbt", source="Orphanet:402035"} xref: ICD10CM:K52.82 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1169803773 {source="MONDO:equivalentTo"} xref: ICD9:558.42 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C27053 {source="MONDO:equivalentTo"} xref: Orphanet:402035 {source="MONDO:equivalentTo"} @@ -393624,6 +396425,7 @@ synonym: "Chondromyxoid fibroma" EXACT [NCIT:C3830] xref: EFO:0000332 {source="MONDO:equivalentTo"} xref: GARD:21720 {source="Orphanet:404507"} xref: ICD10CM:D16.9 {source="Orphanet:404507", source="Orphanet:404507/ntbt"} +xref: icd11.foundation:1386255400 {source="MONDO:equivalentTo"} xref: ICDO:9241/0 {source="NCIT:C3830"} xref: NCIT:C3830 {source="EFO:0000332", source="MONDO:equivalentTo"} xref: Orphanet:404507 {source="MONDO:equivalentTo"} @@ -393644,6 +396446,7 @@ subset: orphanet_rare {source="Orphanet:404511"} subset: rare xref: GARD:21721 {source="Orphanet:404511"} xref: ICD10CM:C64 {source="Orphanet:404511/ntbt", source="Orphanet:404511"} +xref: icd11.foundation:181489680 {source="MONDO:equivalentTo"} xref: ONCOTREE:CCPRC {source="MONDO:equivalentTo"} xref: Orphanet:404511 {source="MONDO:equivalentTo"} xref: SCTID:734015000 {source="MONDO:equivalentTo"} @@ -393853,6 +396656,7 @@ synonym: "nonsyndromic glycerol kinase deficiency" EXACT [MONDO:patterns/isolate synonym: "nonsyndromic inborn glycerol kinase deficiency" EXACT [MONDO:patterns/isolated] xref: GARD:2807 {source="Orphanet:408"} xref: ICD10CM:E74.8 {source="Orphanet:408", source="Orphanet:408/attributed", source="Orphanet:408/ntbt"} +xref: icd11.foundation:542432712 {source="MONDO:equivalentTo"} xref: MESH:C538138 {source="Orphanet:408", source="Orphanet:408/e"} xref: Orphanet:408 {source="MONDO:equivalentTo"} xref: UMLS:C0268418 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:408"} @@ -393878,6 +396682,7 @@ synonym: "idiopathic retinal perivasculitis" EXACT [Orphanet:40923] synonym: "idiopathic retinal vasculitis" EXACT [Orphanet:40923] xref: GARD:6309 {source="Orphanet:40923"} xref: ICD10CM:H35.0 {source="Orphanet:40923/ntbt", source="Orphanet:40923"} +xref: icd11.foundation:945788847 {source="MONDO:equivalentTo"} xref: icd11.foundation:945788847 {source="MONDO:equivalentTo", source="Orphanet:40923"} xref: MedDRA:10057429 {source="Orphanet:40923/e", source="Orphanet:40923"} xref: MESH:C538011 {source="Orphanet:40923/e", source="MONDO:equivalentTo", source="Orphanet:40923"} @@ -394082,6 +396887,7 @@ xref: ICD10CM:Q60.0 {source="Orphanet:411709/specific", source="Orphanet:411709/ xref: ICD10CM:Q60.1 {source="Orphanet:411709/specific", source="Orphanet:411709/btnt", source="Orphanet:411709"} xref: ICD10CM:Q60.2 {source="Orphanet:411709/specific", source="Orphanet:411709/btnt", source="Orphanet:411709"} xref: icd11.foundation:683319223 {source="MONDO:equivalentTo", source="Orphanet:411709"} +xref: icd11.foundation:683319223 {source="MONDO:equivalentTo"} xref: NCIT:C99041 {source="MONDO:equivalentTo"} xref: OMIMPS:191830 {source="MONDO:equivalentTo"} xref: Orphanet:411709 {source="OMIM:191830", source="MONDO:equivalentTo"} @@ -394128,6 +396934,7 @@ subset: orphanet_rare {source="Orphanet:411788"} subset: rare xref: DOID:0111566 {source="MONDO:equivalentTo"} xref: GARD:13167 {source="Orphanet:411788"} +xref: icd11.foundation:1611595637 {source="MONDO:equivalentTo"} xref: Orphanet:411788 {source="MONDO:equivalentTo"} xref: SCTID:764523004 {source="MONDO:equivalentTo"} is_a: MONDO:0008593 {source="https://orcid.org/0000-0001-5208-3432"} ! trichomegaly @@ -394297,6 +397104,7 @@ xref: GARD:1467 {source="Orphanet:418"} xref: ICD10CM:E25 {source="DOID:0050811"} xref: ICD10CM:E25.0 {source="Orphanet:418", source="Orphanet:418/specific", source="Orphanet:418/e"} xref: ICD10CM:E25.9 {source="DOID:0050811"} +xref: icd11.foundation:172733763 {source="MONDO:equivalentTo"} xref: icd11.foundation:172733763 {source="MONDO:equivalentTo", source="Orphanet:418"} xref: ICD9:255.2 {source="DOID:0050811"} xref: MedDRA:10010323 {source="Orphanet:418", source="Orphanet:418/e"} @@ -394382,6 +397190,7 @@ synonym: "secondary PAP" EXACT [Orphanet:420259] synonym: "SPAP" EXACT ABBREVIATION [PMID:19465834] xref: GARD:21744 {source="Orphanet:420259"} xref: ICD10CM:J84.0 {source="Orphanet:420259", source="Orphanet:420259/ntbt"} +xref: icd11.foundation:1480338606 {source="MONDO:equivalentTo"} xref: Orphanet:420259 {source="MONDO:equivalentTo"} xref: SCTID:707510005 {source="MONDO:equivalentTo"} xref: UMLS:C3873302 {source="MONDO:equivalentTo"} @@ -394550,6 +397359,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:422519"} subset: orphanet_rare {source="Orphanet:422519"} subset: rare +xref: icd11.foundation:460538363 {source="MONDO:equivalentTo"} xref: ICD9:270.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:422519 {source="MONDO:equivalentObsolete"} xref: SCTID:303098002 {source="MONDO:equivalentTo"} @@ -394732,6 +397542,7 @@ synonym: "ground itch" RELATED [GARD:0001629] xref: GARD:1629 {source="Orphanet:423717"} xref: ICD10CM:B76.9 {source="Orphanet:423717/ntbt", source="Orphanet:423717"} xref: icd11.foundation:657025682 {source="MONDO:equivalentTo", source="Orphanet:423717"} +xref: icd11.foundation:657025682 {source="MONDO:equivalentTo"} xref: ICD9:126.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D007815 {source="MONDO:equivalentTo"} xref: Orphanet:423717 {source="MONDO:equivalentTo"} @@ -395539,6 +398350,7 @@ subset: orphanet_rare {source="Orphanet:427"} subset: rare xref: GARD:16532 {source="Orphanet:427"} xref: ICD10CM:E27.4 {source="Orphanet:427/attributed", source="Orphanet:427/ntbt", source="Orphanet:427"} +xref: icd11.foundation:712299654 {source="MONDO:equivalentTo"} xref: Orphanet:427 {source="MONDO:equivalentTo"} xref: SCTID:715343000 {source="MONDO:equivalentTo"} xref: UMLS:C4275180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -395642,6 +398454,7 @@ xref: ICD10CM:E71.3 {source="Orphanet:43", source="Orphanet:43/ntbt", source="Or xref: ICD10CM:E71.52 {source="DOID:10588"} xref: ICD10CM:E71.529 {source="DOID:10588"} xref: ICD10CM:G37.0 {source="DOID:10588"} +xref: icd11.foundation:1085655586 {source="MONDO:equivalentTo"} xref: ICD9:341.1 {source="DOID:10588", source="MONDO:relatedTo"} xref: MedDRA:10051260 {source="Orphanet:43", source="Orphanet:43/e"} xref: MESH:D000326 {source="DOID:10588", source="Orphanet:43", source="MONDO:equivalentTo", source="Orphanet:43/e"} @@ -395698,6 +398511,7 @@ synonym: "serotonin toxicity" EXACT [Orphanet:43116] synonym: "serotonin toxidrome" EXACT [Orphanet:43116] xref: EFO:1001842 {source="MONDO:equivalentTo"} xref: GARD:18828 {source="Orphanet:43116"} +xref: icd11.foundation:678764364 {source="MONDO:equivalentTo"} xref: ICD9:333.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10040108 {source="Orphanet:43116", source="Orphanet:43116/e"} xref: MESH:D020230 {source="Orphanet:43116", source="MONDO:equivalentTo", source="Orphanet:43116/e"} @@ -395783,6 +398597,7 @@ synonym: "patent urachus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165 xref: GARD:21798 {source="Orphanet:431341"} xref: HP:0010479 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q64.4 {source="Orphanet:431341", source="Orphanet:431341/ntbt"} +xref: icd11.foundation:1391202028 {source="MONDO:equivalentTo"} xref: NCIT:C99005 {source="MONDO:equivalentTo"} xref: Orphanet:431341 {source="MONDO:equivalentTo"} xref: SCTID:398316009 {source="MONDO:equivalentTo"} @@ -395801,6 +398616,7 @@ subset: orphanet_rare {source="Orphanet:431344"} subset: rare xref: GARD:21799 {source="Orphanet:431344"} xref: ICD10CM:Q64.4 {source="Orphanet:431344", source="Orphanet:431344/ntbt"} +xref: icd11.foundation:1174996735 {source="MONDO:equivalentTo"} xref: Orphanet:431344 {source="MONDO:equivalentTo"} xref: SCTID:451030007 {source="MONDO:equivalentTo"} xref: UMLS:C3472657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -395818,6 +398634,7 @@ subset: rare synonym: "Vesicourachal diverticulum" EXACT [Orphanet:431347] xref: GARD:21800 {source="Orphanet:431347"} xref: ICD10CM:Q64.4 {source="Orphanet:431347", source="Orphanet:431347/ntbt"} +xref: icd11.foundation:1816352256 {source="MONDO:equivalentTo"} xref: NCIT:C123254 {source="MONDO:equivalentTo"} xref: Orphanet:431347 {source="MONDO:equivalentTo"} xref: SCTID:253899000 {source="MONDO:equivalentTo"} @@ -395959,6 +398776,7 @@ subset: rare synonym: "LUTO" EXACT ABBREVIATION [Orphanet:435365] xref: GARD:21804 {source="Orphanet:435365"} xref: icd11.foundation:1661120971 {source="MONDO:equivalentTo", source="Orphanet:435365"} +xref: icd11.foundation:1661120971 {source="MONDO:equivalentTo"} xref: Orphanet:435365 {source="MONDO:equivalentTo"} xref: SCTID:717752005 {source="MONDO:equivalentTo"} xref: UMLS:C4305545 {source="MONDO:equivalentTo"} @@ -396148,6 +398966,7 @@ xref: DOID:14213 {source="MONDO:equivalentTo"} xref: GARD:6734 {source="Orphanet:436"} xref: ICD10CM:E83.3 {source="Orphanet:436/inclusion", source="Orphanet:436", source="Orphanet:436/ntbt", source="MONDO:directSiblingOf"} xref: ICD10CM:E83.39 {source="DOID:14213"} +xref: icd11.foundation:422012968 {source="MONDO:equivalentTo"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10049933 {source="Orphanet:436", source="Orphanet:436/e"} xref: MESH:C562440 {source="DOID:14213"} @@ -396464,6 +399283,7 @@ synonym: "LECT2 amyloidosis" EXACT [https://orcid.org/0000-0002-2825-0621] synonym: "leukocyte chemotactic factor-2 amyloidosis" EXACT [Orphanet:439224] xref: GARD:21827 {source="Orphanet:439224"} xref: ICD10CM:E85.8 {source="Orphanet:439224/ntbt", source="Orphanet:439224"} +xref: icd11.foundation:1363099940 {source="MONDO:equivalentTo"} xref: Orphanet:439224 {source="MONDO:equivalentTo"} is_a: MONDO:0019065 {source="Orphanet:439224"} ! amyloidosis @@ -396479,6 +399299,7 @@ synonym: "apolipoprotein A-IV amyloidosis" EXACT [Orphanet:439232] xref: DOID:0080927 {source="MONDO:equivalentTo"} xref: GARD:21828 {source="Orphanet:439232"} xref: ICD10CM:E85.8 {source="Orphanet:439232", source="Orphanet:439232/ntbt"} +xref: icd11.foundation:1235542353 {source="MONDO:equivalentTo"} xref: Orphanet:439232 {source="MONDO:equivalentTo"} is_a: MONDO:0019065 {source="Orphanet:439232"} ! amyloidosis relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:439232", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease @@ -396512,6 +399333,7 @@ synonym: "ITM2B-related cerebral amyloid angiopathy" EXACT [Orphanet:439254] xref: GARD:17741 {source="Orphanet:439254"} xref: ICD10EXP:E85.4+ {source="Orphanet:439254", source="Orphanet:439254/attributed", source="Orphanet:439254/ntbt"} xref: ICD10EXP:I68.0* {source="Orphanet:439254", source="Orphanet:439254/attributed", source="Orphanet:439254/ntbt"} +xref: icd11.foundation:503091580 {source="MONDO:equivalentTo"} xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:439254 {source="MONDO:equivalentTo"} xref: SCTID:45639009 {source="MONDO:equivalentTo"} @@ -396534,6 +399356,7 @@ synonym: "cutaneous PAN" EXACT [Orphanet:439729] synonym: "cutaneous periarteritis nodosa" EXACT [Orphanet:439729] xref: GARD:7415 {source="Orphanet:439729"} xref: ICD10CM:M30.0 {source="Orphanet:439729", source="Orphanet:439729/ntbt"} +xref: icd11.foundation:1752423171 {source="MONDO:equivalentTo"} xref: ICD9:709.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C117295 {source="MONDO:equivalentTo"} xref: Orphanet:439729 {source="MONDO:equivalentTo"} @@ -396666,6 +399489,7 @@ synonym: "congenital CNIII lesion" EXACT [Orphanet:440221] synonym: "congenital third cranial nerve palsy" EXACT [Orphanet:440221] xref: GARD:21836 {source="Orphanet:440221"} xref: ICD10CM:Q07.8 {source="Orphanet:440221", source="Orphanet:440221/attributed", source="Orphanet:440221/ntbt"} +xref: icd11.foundation:2135160463 {source="MONDO:equivalentTo"} xref: Orphanet:440221 {source="MONDO:equivalentTo"} is_a: MONDO:0015083 {source="Orphanet:440221"} ! nuclear oculomotor paralysis relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -396907,6 +399731,7 @@ xref: ICD10CM:E00.9 {source="Orphanet:442/specific", source="Orphanet:442/btnt", xref: ICD10CM:E03.0 {source="Orphanet:442/specific", source="Orphanet:442/btnt", source="Orphanet:442"} xref: ICD10CM:E03.1 {source="Orphanet:442/specific", source="Orphanet:442/btnt", source="DOID:0050328", source="Orphanet:442"} xref: icd11.foundation:602450215 {source="MONDO:equivalentTo", source="Orphanet:442"} +xref: icd11.foundation:602450215 {source="MONDO:equivalentTo"} xref: ICD9:243 {source="DOID:0050328"} xref: ICD9:269.3 xref: ICD9:759.89 @@ -396946,6 +399771,7 @@ synonym: "heavy chain amyloidosis" EXACT [Orphanet:442582] xref: DOID:0080934 {source="MONDO:equivalentTo"} xref: GARD:21847 {source="Orphanet:442582"} xref: ICD10CM:E85.9 {source="Orphanet:442582/ntbt", source="Orphanet:442582"} +xref: icd11.foundation:1511136608 {source="MONDO:equivalentTo"} xref: NCIT:C158962 {source="MONDO:equivalentTo"} xref: Orphanet:442582 {source="MONDO:equivalentTo"} is_a: MONDO:0019065 {source="Orphanet:442582"} ! amyloidosis @@ -396983,6 +399809,7 @@ subset: rare xref: GARD:10795 {source="Orphanet:443070"} xref: ICD10CM:G44.0 {source="Orphanet:443070", source="Orphanet:443070/ntbt"} xref: ICD10CM:G44.51 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1093161847 {source="MONDO:equivalentTo"} xref: ICD9:339.41 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: Orphanet:443070 {source="MONDO:equivalentTo"} xref: SCTID:443095000 {source="MONDO:equivalentTo"} @@ -397007,6 +399834,7 @@ synonym: "CSCR" EXACT ABBREVIATION [Orphanet:443079] xref: GARD:200 {source="Orphanet:443079"} xref: ICD10CM:H35.7 {source="Orphanet:443079", source="Orphanet:443079/ntbt"} xref: icd11.foundation:1623925689 {source="Orphanet:443079", source="MONDO:equivalentTo"} +xref: icd11.foundation:1623925689 {source="MONDO:equivalentTo"} xref: ICD9:362.41 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D056833 {source="MONDO:equivalentTo"} xref: NCIT:C115124 {source="MONDO:equivalentTo"} @@ -397028,6 +399856,7 @@ subset: orphanet_rare {source="Orphanet:443084"} subset: rare xref: GARD:10664 {source="Orphanet:443084"} xref: ICD10CM:G90.4 {source="Orphanet:443084", source="Orphanet:443084/ntbt"} +xref: icd11.foundation:880662615 {source="MONDO:equivalentTo"} xref: icd11.foundation:880662615 {source="MONDO:equivalentTo", source="Orphanet:443084"} xref: Orphanet:443084 {source="MONDO:equivalentTo"} xref: UMLS:C1959798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -397127,6 +399956,7 @@ synonym: "spontaneous cerebrospinal fluid leak" EXACT [Orphanet:443180] xref: GARD:21854 {source="Orphanet:443180"} xref: ICD10CM:G96.0 {source="Orphanet:443180", source="Orphanet:443180/e"} xref: icd11.foundation:1304151002 {source="MONDO:equivalentTo", source="Orphanet:443180"} +xref: icd11.foundation:1304151002 {source="MONDO:equivalentTo"} xref: NORD:1901 {source="MONDO:NORD"} xref: Orphanet:443180 {source="MONDO:equivalentTo"} xref: UMLS:C0751731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:443180"} @@ -397176,6 +400006,7 @@ xref: ICD10CM:A01.1 {source="DOID:3055", source="Orphanet:443227", source="Orpha xref: ICD10CM:A01.2 {source="DOID:3055", source="Orphanet:443227", source="Orphanet:443227/btnt"} xref: ICD10CM:A01.3 {source="DOID:3055", source="Orphanet:443227", source="Orphanet:443227/btnt"} xref: ICD10CM:A01.4 {source="DOID:3055", source="Orphanet:443227", source="Orphanet:443227/btnt"} +xref: icd11.foundation:1780040028 {source="MONDO:equivalentTo"} xref: icd11.foundation:1780040028 {source="MONDO:equivalentTo", source="Orphanet:443227"} xref: ICD9:002.1 {source="DOID:3055"} xref: ICD9:002.2 {source="DOID:3055"} @@ -397368,6 +400199,7 @@ synonym: "amyloidosis, Familial" EXACT [NCIT:C84555] synonym: "familial amyloidosis" RELATED [GARD:0006611] synonym: "hereditary amyloidosis (disease)" EXACT [MONDO:patterns/hereditary] xref: GARD:6611 {source="Orphanet:444116"} +xref: icd11.foundation:1152878652 {source="MONDO:equivalentTo"} xref: icd11.foundation:1152878652 {source="Orphanet:444116", source="MONDO:equivalentTo"} xref: MESH:D028226 {source="MONDO:equivalentTo"} xref: NCIT:C84555 {source="MONDO:equivalentTo"} @@ -397549,6 +400381,7 @@ subset: orphanet_rare {source="Orphanet:447764"} subset: rare xref: GARD:21867 {source="Orphanet:447764"} xref: ICD10CM:K83.0 {source="Orphanet:447764", source="Orphanet:447764/ntbt"} +xref: icd11.foundation:1676971795 {source="MONDO:equivalentTo"} xref: Orphanet:447764 {source="MONDO:equivalentTo"} xref: SCTID:722870008 {source="MONDO:equivalentTo"} xref: UMLS:C4302109 {source="MONDO:equivalentTo"} @@ -397871,6 +400704,7 @@ synonym: "brachyolmia, autosomal recessive" EXACT [MONDO:patterns/autosomal_rece synonym: "brachyolmia, Hobaek/Toledo type" EXACT [Orphanet:448242] xref: GARD:13171 {source="Orphanet:448242"} xref: ICD10CM:Q76.3 {source="Orphanet:448242/attributed", source="Orphanet:448242/ntbt", source="Orphanet:448242"} +xref: icd11.foundation:625421044 {source="MONDO:equivalentTo"} xref: Orphanet:448242 {source="MONDO:equivalentTo"} xref: UMLS:C4760908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015262 {source="MONDO:Redundant", source="Orphanet:448242"} ! brachyolmia @@ -397954,7 +400788,9 @@ xref: DOID:687 {source="MONDO:equivalentTo"} xref: EFO:1000292 {source="MONDO:equivalentTo"} xref: GARD:2657 {source="Orphanet:449"} xref: ICD10CM:C22.2 {source="DOID:687", source="Orphanet:449", source="Orphanet:449/e"} +xref: icd11.foundation:1241693063 {source="MONDO:equivalentTo"} xref: icd11.foundation:1556608523 {source="Orphanet:449", source="MONDO:equivalentTo"} +xref: icd11.foundation:1556608523 {source="MONDO:equivalentTo"} xref: ICDO:8970/3 {source="NCIT:C3728"} xref: MedDRA:10062001 {source="Orphanet:449", source="Orphanet:449/e"} xref: MESH:D018197 {source="DOID:687", source="Orphanet:449", source="MONDO:equivalentTo", source="Orphanet:449/e"} @@ -398023,6 +400859,7 @@ subset: ordo_disease {source="Orphanet:449280"} subset: orphanet_rare {source="Orphanet:449280"} subset: rare xref: GARD:21880 {source="Orphanet:449280"} +xref: icd11.foundation:807637046 {source="MONDO:equivalentTo"} xref: icd11.foundation:807637046 {source="Orphanet:449280", source="MONDO:equivalentTo"} xref: MESH:C000656924 {source="MONDO:equivalentTo"} xref: Orphanet:449280 {source="MONDO:equivalentTo"} @@ -398076,6 +400913,7 @@ subset: orphanet_rare {source="Orphanet:449395"} subset: rare xref: GARD:21882 {source="Orphanet:449395"} xref: ICD10CM:N11.8 {source="Orphanet:449395", source="Orphanet:449395/ntbt"} +xref: icd11.foundation:1877692678 {source="MONDO:equivalentTo"} xref: Orphanet:449395 {source="MONDO:equivalentTo"} xref: UMLS:CN237737 {source="MONDO:equivalentTo"} is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder @@ -398093,6 +400931,7 @@ subset: rare synonym: "IgG4-related periaortitis" EXACT [Orphanet:449400] xref: GARD:21883 {source="Orphanet:449400"} xref: ICD10CM:I77.6 {source="Orphanet:449400/ntbt", source="Orphanet:449400"} +xref: icd11.foundation:593151236 {source="MONDO:equivalentTo"} xref: Orphanet:449400 {source="MONDO:equivalentTo"} is_a: MONDO:0017287 {source="Orphanet:449400"} ! IgG4-related disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015621"} ! rare @@ -398112,6 +400951,7 @@ synonym: "idiopathic hypertrophic pachymeningitis" EXACT [Orphanet:449427] synonym: "idiopathic hypertrophic spinal pachymeningitis" RELATED [GARD:0013256] xref: GARD:13256 {source="Orphanet:449427"} xref: ICD10CM:G03.9 {source="Orphanet:449427/ntbt", source="Orphanet:449427"} +xref: icd11.foundation:1140264879 {source="MONDO:equivalentTo"} xref: Orphanet:449427 {source="MONDO:equivalentTo"} xref: SCTID:762282007 {source="MONDO:equivalentTo"} xref: UMLS:C4545992 {source="MONDO:equivalentTo"} @@ -398139,6 +400979,7 @@ synonym: "Küttner tumor" EXACT [Orphanet:449432] synonym: "Küttner tumour" EXACT OMO:0003005 [] xref: GARD:21884 {source="Orphanet:449432"} xref: ICD10CM:K11.2 {source="Orphanet:449432/ntbt", source="Orphanet:449432"} +xref: icd11.foundation:588811750 {source="MONDO:equivalentTo"} xref: NCIT:C82887 {source="MONDO:equivalentTo"} xref: Orphanet:449432 {source="MONDO:equivalentTo"} xref: SCTID:448131008 {source="MONDO:equivalentTo"} @@ -398180,6 +401021,7 @@ synonym: "IgG4-related eosinophilic angiocentric fibrosis" EXACT [Orphanet:44956 synonym: "Sinonasal eosinophilic angiocentric fibrosis" RELATED [GARD:0002032] xref: GARD:21886 {source="Orphanet:449566"} xref: ICD10CM:J39.8 {source="Orphanet:449566/ntbt", source="Orphanet:449566"} +xref: icd11.foundation:57609544 {source="MONDO:equivalentTo"} xref: Orphanet:449566 {source="MONDO:equivalentTo"} is_a: MONDO:0017287 {source="Orphanet:449566"} ! IgG4-related disease is_a: MONDO:0024623 {source="Orphanet:449566"} ! otorhinolaryngologic disease @@ -398213,6 +401055,7 @@ xref: EFO:0009081 {source="MONDO:equivalentTo"} xref: GARD:10875 {source="Orphanet:450"} xref: GARD:20013 {source="Orphanet:157769"} xref: ICD10CM:Q89.3 {source="Orphanet:157769", source="Orphanet:450/nd", source="Orphanet:450", source="Orphanet:157769/attributed", source="Orphanet:157769/ntbt"} +xref: icd11.foundation:780273165 {source="MONDO:equivalentTo"} xref: MedDRA:10059119 {source="Orphanet:157769", source="Orphanet:157769/e"} xref: MedDRA:10067265 {source="Orphanet:450/e", source="Orphanet:450"} xref: NCIT:C117273 {source="MONDO:equivalentTo"} @@ -398254,6 +401097,7 @@ subset: rare xref: GARD:21888 {source="Orphanet:451602"} xref: ICD10CM:L98.6 {source="Orphanet:451602/ntbt", source="Orphanet:451602"} xref: icd11.foundation:1669369613 {source="MONDO:equivalentTo", source="Orphanet:451602"} +xref: icd11.foundation:1669369613 {source="MONDO:equivalentTo"} xref: Orphanet:451602 {source="MONDO:equivalentTo"} is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder is_a: MONDO:0017287 {source="Orphanet:451602"} ! IgG4-related disease @@ -398272,6 +401116,7 @@ synonym: "lymphocytoma cutis" EXACT [NCIT:C62776] synonym: "pseudolymphoma of Spiegler" EXACT [NCIT:C62776] xref: GARD:21889 {source="Orphanet:451607"} xref: ICD10CM:L98.6 {source="Orphanet:451607/ntbt", source="Orphanet:451607"} +xref: icd11.foundation:1620802923 {source="MONDO:equivalentTo"} xref: NCIT:C62776 {source="MONDO:equivalentTo"} xref: Orphanet:451607 {source="MONDO:equivalentTo"} xref: SCTID:128862000 {source="MONDO:equivalentTo"} @@ -398340,6 +401185,7 @@ synonym: "ichthyosis acquisita" EXACT [GARD:0000476, NCIT:C112831] synonym: "ichthyosis, acquired" RELATED [GARD:0000476] xref: GARD:476 {source="Orphanet:454"} xref: ICD10CM:L85.0 {source="Orphanet:454/e", source="MONDO:equivalentTo", source="Orphanet:454"} +xref: icd11.foundation:1504032289 {source="MONDO:equivalentTo"} xref: icd11.foundation:1504032289 {source="MONDO:equivalentTo", source="Orphanet:454"} xref: MESH:C538175 {source="MONDO:equivalentTo"} xref: NCIT:C112831 {source="MONDO:equivalentTo"} @@ -398365,6 +401211,7 @@ subset: rare synonym: "neonatal cardiac dysrhythmia" EXACT [ICD10CM:P29.1] xref: GARD:18831 {source="Orphanet:45452"} xref: ICD10CM:P29.1 {source="MONDO:equivalentTo", source="Orphanet:45452/ntbt", source="Orphanet:45452"} +xref: icd11.foundation:208964573 {source="MONDO:equivalentTo"} xref: Orphanet:45452 {source="MONDO:equivalentTo"} xref: SCTID:715560009 {source="MONDO:equivalentTo"} xref: UMLS:C4275090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -398384,6 +401231,7 @@ subset: orphanet_rare {source="Orphanet:45453"} subset: rare xref: GARD:18832 {source="Orphanet:45453"} xref: ICD10CM:I47.2 {source="MONDO:relatedTo", source="Orphanet:45453/ntbt", source="Orphanet:45453"} +xref: icd11.foundation:1364925734 {source="MONDO:equivalentTo"} xref: Orphanet:45453 {source="MONDO:equivalentTo"} xref: SCTID:233908008 {source="MONDO:equivalentTo"} xref: UMLS:C0340487 {source="Orphanet:45453/e", source="MONDO:equivalentTo", source="Orphanet:45453"} @@ -398430,6 +401278,7 @@ xref: GARD:21891 {source="Orphanet:454706"} xref: ICD10CM:G12.2 {source="Orphanet:454706/ntbt", source="Orphanet:454706"} xref: ICD10CM:G12.21 {source="DOID:318"} xref: icd11.foundation:1282359533 {source="MONDO:equivalentTo", source="Orphanet:454706"} +xref: icd11.foundation:1282359533 {source="MONDO:equivalentTo"} xref: ICD9:335.21 {source="DOID:318", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D009134 {source="DOID:318", source="MONDO:directSiblingOf"} xref: NCIT:C85027 {source="DOID:318", source="MONDO:equivalentTo"} @@ -399245,6 +402094,7 @@ subset: rare synonym: "KLA" BROAD ABBREVIATION [PMID:24252784] xref: GARD:13451 {source="Orphanet:464329"} xref: ICD10CM:D18.1 {source="Orphanet:464329/ntbt", source="Orphanet:464329"} +xref: icd11.foundation:1139222402 {source="MONDO:equivalentTo"} xref: Orphanet:464329 {source="MONDO:equivalentTo"} is_a: MONDO:0024296 {source="Orphanet:464329"} ! vascular neoplasm relationship: disease_shares_features_of MONDO:0016236 ! kaposiform hemangioendothelioma @@ -399435,6 +402285,7 @@ xref: EFO:1000680 {source="MONDO:equivalentTo"} xref: GARD:5913 {source="Orphanet:46486"} xref: ICD10CM:L12.1 {source="DOID:11656", source="Orphanet:46486/ntbt", source="Orphanet:46486"} xref: icd11.foundation:1456138933 {source="MONDO:equivalentTo", source="Orphanet:46486"} +xref: icd11.foundation:1456138933 {source="MONDO:equivalentTo"} xref: ICD9:694.6 {source="DOID:11656"} xref: ICD9:694.61 {source="DOID:11656", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10057052 {source="Orphanet:46486/e", source="Orphanet:46486"} @@ -399781,6 +402632,7 @@ subset: rare synonym: "CMUSE" EXACT ABBREVIATION [Orphanet:468635] xref: GARD:21945 {source="Orphanet:468635"} xref: icd11.foundation:1401898155 {source="Orphanet:468635", source="MONDO:equivalentTo"} +xref: icd11.foundation:1401898155 {source="MONDO:equivalentTo"} xref: Orphanet:468635 {source="MONDO:equivalentTo"} xref: SCTID:722849002 {source="MONDO:equivalentTo"} xref: UMLS:C4302263 {source="MONDO:equivalentTo"} @@ -399851,6 +402703,7 @@ synonym: "FCU" EXACT ABBREVIATION [Orphanet:47045] xref: DOID:0090061 {source="MONDO:equivalentTo"} xref: GARD:9535 {source="Orphanet:47045"} xref: ICD10CM:L50.2 {source="Orphanet:47045/inclusion", source="Orphanet:47045/ntbt", source="Orphanet:47045", source="DOID:0090061"} +xref: icd11.foundation:1932140025 {source="MONDO:equivalentTo"} xref: MedDRA:10064570 {source="Orphanet:47045/e", source="Orphanet:47045"} xref: NCIT:C119053 {source="MONDO:equivalentTo"} xref: NORD:1122 {source="MONDO:NORD"} @@ -399977,6 +402830,7 @@ synonym: "pure Joubert syndrome" EXACT [Orphanet:475] xref: DOID:0050777 {source="MONDO:equivalentTo"} xref: GARD:6802 {source="Orphanet:475"} xref: ICD10CM:Q04.3 {source="DOID:0050777", source="Orphanet:475/attributed", source="Orphanet:475/ntbt", source="Orphanet:475"} +xref: icd11.foundation:1414756318 {source="MONDO:equivalentTo"} xref: icd11.foundation:1414756318 {source="MONDO:equivalentTo", source="Orphanet:475"} xref: NCIT:C74996 {source="MONDO:equivalentTo"} xref: NORD:1312 {source="MONDO:NORD"} @@ -400086,6 +402940,7 @@ synonym: "Intermediate hereditary motor and sensory neuropathy" EXACT [Orphanet: xref: DOID:0050543 {source="MONDO:equivalentTo"} xref: GARD:21954 {source="Orphanet:476123"} xref: icd11.foundation:1389094589 {source="Orphanet:476123", source="MONDO:equivalentTo"} +xref: icd11.foundation:1389094589 {source="MONDO:equivalentTo"} xref: Orphanet:476123 {source="MONDO:equivalentTo"} is_a: MONDO:0015626 {source="DOID:0050543", source="Orphanet:476123", source="https://orcid.org/0000-0001-5208-3432"} ! Charcot-Marie-Tooth disease relationship: excluded_subClassOf MONDO:0015358 {source="Orphanet:476123", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary motor and sensory neuropathy @@ -400173,6 +403028,7 @@ subset: ordo_disease {source="Orphanet:477650"} subset: orphanet_rare {source="Orphanet:477650"} subset: rare xref: GARD:21958 {source="Orphanet:477650"} +xref: icd11.foundation:112300601 {source="MONDO:equivalentTo"} xref: icd11.foundation:112300601 {source="MONDO:equivalentTo", source="Orphanet:477650"} xref: ICD9:729.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:477650 {source="MONDO:equivalentTo"} @@ -400694,7 +403550,9 @@ synonym: "aneurysmal cyst of bone" EXACT [NCIT:C3516] synonym: "aneurysmal cyst of the bone" EXACT [NCIT:C3516] xref: GARD:21982 {source="Orphanet:480553"} xref: HP:0012063 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:1603788294 {source="MONDO:equivalentTo"} xref: icd11.foundation:1603788294 {source="MONDO:equivalentTo", source="Orphanet:480553"} +xref: icd11.foundation:191920280 {source="MONDO:equivalentTo"} xref: ICD9:733.22 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D017824 {source="MONDO:equivalentTo"} xref: NCIT:C3516 {source="MONDO:equivalentTo"} @@ -400844,6 +403702,7 @@ xref: DOID:8553 {source="MONDO:equivalentTo"} xref: EFO:0006835 {source="MONDO:equivalentTo"} xref: GARD:7510 {source="Orphanet:48104"} xref: ICD10CM:L88 {source="Orphanet:48104/e", source="MONDO:equivalentTo", source="Orphanet:48104", source="DOID:8553"} +xref: icd11.foundation:2120746218 {source="MONDO:equivalentTo"} xref: icd11.foundation:2120746218 {source="MONDO:equivalentTo", source="Orphanet:48104"} xref: ICD9:686.01 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8553"} xref: MedDRA:10037635 {source="Orphanet:48104/e", source="Orphanet:48104"} @@ -400984,6 +403843,7 @@ xref: DOID:7365 {source="MONDO:equivalentTo", source="EFO:1000722"} xref: EFO:1000722 {source="MONDO:equivalentTo"} xref: GARD:6835 {source="Orphanet:482"} xref: ICD10CM:I89.8 {source="Orphanet:482/ntbt", source="Orphanet:482"} +xref: icd11.foundation:1229046951 {source="MONDO:equivalentTo"} xref: MedDRA:10048640 {source="Orphanet:482/e", source="Orphanet:482"} xref: MESH:D000082242 {source="MONDO:equivalentTo"} xref: MESH:D000796 {source="Orphanet:482/e", source="MONDO:equivalentTo", source="Orphanet:482", source="DOID:7365"} @@ -401231,7 +404091,9 @@ synonym: "primary Effusion Lymphoma" EXACT [MONDO:0006384, NCIT:C6915] xref: EFO:1000491 {source="MONDO:equivalentTo"} xref: GARD:9247 {source="Orphanet:48686"} xref: ICD10CM:C83.8 {source="Orphanet:48686/ntbt", source="Orphanet:48686"} +xref: icd11.foundation:1652647741 {source="MONDO:equivalentTo"} xref: icd11.foundation:697911710 {source="MONDO:equivalentTo", source="Orphanet:48686"} +xref: icd11.foundation:697911710 {source="MONDO:equivalentTo"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9678/3 {source="NCIT:C6915"} xref: MedDRA:10065857 {source="Orphanet:48686/e", source="Orphanet:48686"} @@ -401288,6 +404150,7 @@ synonym: "urachal cyst (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:5425 {source="Orphanet:488"} xref: HP:0012618 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q64.4 {source="Orphanet:488", source="Orphanet:488/ntbt"} +xref: icd11.foundation:1125432593 {source="MONDO:equivalentTo"} xref: MedDRA:10065375 {source="Orphanet:488", source="Orphanet:488/e"} xref: MESH:D014496 {source="Orphanet:488", source="MONDO:equivalentTo", source="Orphanet:488/e"} xref: NCIT:C85216 {source="MONDO:equivalentTo"} @@ -401310,6 +404173,7 @@ synonym: "focal nodular myositis" EXACT [Orphanet:48918] synonym: "inflammatory pseudotumor of skeletal muscle" EXACT [Orphanet:48918] xref: GARD:18837 {source="Orphanet:48918"} xref: ICD10CM:M60.8 {source="Orphanet:48918", source="Orphanet:48918/ntbt"} +xref: icd11.foundation:708931518 {source="MONDO:equivalentTo"} xref: ICD9:729.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:48918 {source="MONDO:equivalentTo"} xref: SCTID:240119009 {source="MONDO:equivalentTo"} @@ -401375,6 +404239,7 @@ synonym: "Retroperitoneal Fibrosis" EXACT [NORD:1665] synonym: "retroperitoneal fibrosis" EXACT [GARD:0009568, NCIT:C26876] xref: GARD:9568 {source="Orphanet:49041"} xref: ICD10CM:N13.5 {source="Orphanet:49041/ntbt", source="Orphanet:49041"} +xref: icd11.foundation:900354709 {source="MONDO:equivalentTo"} xref: ICD9:593.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10038979 {source="Orphanet:49041", source="Orphanet:49041/e"} xref: MESH:D012185 {source="Orphanet:49041", source="MONDO:equivalentTo", source="Orphanet:49041/e"} @@ -401410,6 +404275,7 @@ xref: GARD:6258 {source="Orphanet:49042"} xref: HP:0000703 {source="MONDO:otherHierarchy"} xref: ICD10CM:K00.5 {source="Orphanet:49042/ntbt", source="Orphanet:49042/inclusion", source="Orphanet:49042", source="DOID:4154"} xref: icd11.foundation:2090257992 {source="Orphanet:49042", source="MONDO:equivalentTo"} +xref: icd11.foundation:2090257992 {source="MONDO:equivalentTo"} xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10054013 {source="Orphanet:49042", source="Orphanet:49042/e"} xref: MESH:D003811 {source="Orphanet:49042", source="MONDO:equivalentTo", source="Orphanet:49042/e", source="DOID:4154"} @@ -401446,6 +404312,7 @@ synonym: "proliferating Tricholemmal tumor" EXACT [NCIT:C27125] synonym: "proliferating Tricholemmal tumour" EXACT OMO:0003005 [] xref: GARD:4509 {source="Orphanet:492"} xref: ICD10CM:L72.1 {source="Orphanet:492", source="Orphanet:492/ntbt"} +xref: icd11.foundation:521331707 {source="MONDO:equivalentTo"} xref: ICDO:8103/0 {source="NCIT:C27125"} xref: ICDO:8103/1 {source="NCIT:C27125"} xref: NCIT:C27125 {source="MONDO:equivalentTo"} @@ -401595,6 +404462,7 @@ synonym: "ulerythema ophryogenesis" RELATED [MESH:C537412] xref: DOID:0080751 {source="MONDO:equivalentTo"} xref: GARD:18694 {source="Orphanet:498"} xref: ICD10CM:L85.8 {source="Orphanet:498/attributed", source="Orphanet:498/ntbt", source="Orphanet:498"} +xref: icd11.foundation:273325594 {source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537412 {source="MONDO:equivalentTo"} xref: OMIM:604093 {source="MONDO:equivalentTo", source="GARD:0001042"} @@ -401636,6 +404504,7 @@ subset: rare synonym: "migratory myiasis" EXACT [Orphanet:504] xref: GARD:1609 {source="Orphanet:504"} xref: ICD10CM:B87.0 {source="Orphanet:504/ntbt", source="Orphanet:504"} +xref: icd11.foundation:1282509430 {source="MONDO:equivalentTo"} xref: MedDRA:10059547 {source="Orphanet:504", source="Orphanet:504/e"} xref: MESH:D007815 {source="MONDO:relatedTo", source="Orphanet:504", source="Orphanet:504/e"} xref: Orphanet:504 {source="MONDO:equivalentTo"} @@ -401703,6 +404572,7 @@ subset: rare synonym: "AHN-Lerman-Sagie syndrome" EXACT [Orphanet:50812] xref: GARD:18841 {source="Orphanet:50812"} xref: ICD10CM:Q87.8 {source="Orphanet:50812/attributed", source="Orphanet:50812/ntbt", source="Orphanet:50812"} +xref: icd11.foundation:697302760 {source="MONDO:equivalentTo"} xref: Orphanet:50812 {source="MONDO:equivalentTo"} xref: SCTID:718880003 {source="MONDO:equivalentTo"} is_a: MONDO:0016387 {source="Orphanet:50812", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial oxidative phosphorylation disorder @@ -401760,6 +404630,7 @@ synonym: "keratosis palmoplantaris varians of Wachters" EXACT [Orphanet:50942] xref: DOID:0081105 {source="MONDO:equivalentTo"} xref: GARD:15016 {source="Orphanet:50942"} xref: ICD10CM:Q82.8 {source="Orphanet:50942", source="Orphanet:50942/attributed", source="Orphanet:50942/ntbt"} +xref: icd11.foundation:1171134598 {source="MONDO:equivalentTo"} xref: Orphanet:50942 {source="MONDO:equivalentTo"} xref: SCTID:764958008 {source="MONDO:equivalentTo"} xref: UMLS:C4707237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -401837,6 +404708,7 @@ xref: ICD10CM:E75.2 {source="Orphanet:512/ntbt", source="Orphanet:512", source=" xref: ICD10CM:E75.25 {source="DOID:10581"} xref: ICD10CM:E75.29 {source="DOID:10581"} xref: icd11.foundation:172326564 {source="Orphanet:512", source="MONDO:equivalentTo"} +xref: icd11.foundation:172326564 {source="MONDO:equivalentTo"} xref: MedDRA:10067609 {source="Orphanet:512", source="Orphanet:512/e"} xref: MESH:C538597 {source="Orphanet:512", source="Orphanet:512/e"} xref: MESH:D007966 {source="Orphanet:512", source="MONDO:equivalentTo", source="Orphanet:512/e", source="DOID:10581"} @@ -402134,6 +405006,7 @@ xref: DOID:0111503 {source="MONDO:equivalentTo", source="MONDO:preferredExternal xref: DOID:3012 {source="MONDO:equivalentTo"} xref: GARD:6902 {source="Orphanet:524"} xref: ICD10CM:D48.9 {source="Orphanet:524", source="Orphanet:524/attributed", source="Orphanet:524/ntbt"} +xref: icd11.foundation:1968061860 {source="MONDO:equivalentTo"} xref: ICD9:V84.01 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10066795 {source="Orphanet:524", source="Orphanet:524/e"} xref: MESH:C563754 @@ -402177,6 +405050,8 @@ xref: DOID:0050746 {source="MONDO:equivalentTo"} xref: EFO:1001469 {source="MONDO:equivalentTo"} xref: GARD:6969 {source="Orphanet:52416"} xref: ICD10CM:C83.1 {source="Orphanet:52416", source="Orphanet:52416/e"} +xref: icd11.foundation:1187349311 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1804127841 {source="MONDO:equivalentTo"} xref: icd11.foundation:1804127841 {source="MONDO:equivalentTo", source="Orphanet:52416"} xref: ICD9:200.40 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICDO:9673/3 {source="NCIT:C4337"} @@ -402201,6 +405076,7 @@ subset: orphanet_rare {source="Orphanet:52427"} subset: rare xref: GARD:16655 {source="Orphanet:52427"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:52427", source="Orphanet:52427/index", source="Orphanet:52427/ntbt"} +xref: icd11.foundation:567796529 {source="MONDO:equivalentTo"} xref: Orphanet:52427 {source="MONDO:equivalentTo"} xref: SCTID:715562001 {source="MONDO:equivalentTo"} xref: UMLS:C0311338 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:52427"} @@ -402251,6 +405127,7 @@ synonym: "lichen planus follicularis" EXACT [Orphanet:525] synonym: "LPP" EXACT ABBREVIATION [Orphanet:525] xref: GARD:3247 {source="Orphanet:525"} xref: ICD10CM:L66.1 {source="Orphanet:525", source="MONDO:equivalentTo", source="Orphanet:525/e"} +xref: icd11.foundation:572258139 {source="MONDO:equivalentTo"} xref: MESH:C535892 {source="Orphanet:525", source="MONDO:equivalentTo", source="Orphanet:525/e"} xref: Orphanet:525 {source="MONDO:equivalentTo"} xref: SCTID:64540004 {source="MONDO:equivalentTo"} @@ -402344,6 +405221,7 @@ synonym: "systemic vasculitis" NARROW [Orphanet:52759] xref: DOID:865 {source="MONDO:equivalentTo", source="EFO:0006803"} xref: EFO:0006803 {source="MONDO:equivalentTo"} xref: GARD:18844 {source="Orphanet:52759"} +xref: icd11.foundation:572581721 {source="MONDO:equivalentTo"} xref: icd11.foundation:572581721 {source="MONDO:equivalentTo", source="Orphanet:52759"} xref: MedDRA:10036023 {source="Orphanet:52759/e", source="Orphanet:52759"} xref: MedDRA:10047115 {source="Orphanet:52759/e", source="Orphanet:52759"} @@ -402390,6 +405268,7 @@ synonym: "Seip-Bernardinelli syndrome" EXACT [NCIT:C84594] synonym: "total lipodystrophy" EXACT [NCIT:C84594] xref: GARD:13388 {source="Orphanet:528"} xref: ICD10CM:E88.1 {source="Orphanet:528", source="Orphanet:528/attributed", source="Orphanet:528/ntbt"} +xref: icd11.foundation:1628738474 {source="MONDO:equivalentTo"} xref: icd11.foundation:641763399 {source="MONDO:equivalentTo", source="Orphanet:528", source="https://orcid.org/0000-0001-5208-3432"} xref: ICD9:250.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10024603 {source="Orphanet:528", source="Orphanet:528/e"} @@ -402438,6 +405317,7 @@ subset: orphanet_rare {source="Orphanet:52994"} subset: rare xref: GARD:18845 {source="Orphanet:52994"} xref: ICD10CM:D31.6 {source="Orphanet:52994", source="Orphanet:52994/ntbt"} +xref: icd11.foundation:614302400 {source="MONDO:equivalentTo"} xref: Orphanet:52994 {source="MONDO:equivalentTo"} xref: SCTID:719045009 {source="MONDO:equivalentTo"} xref: UMLS:C4305000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -402497,6 +405377,7 @@ synonym: "myosin storage myopathy" EXACT [GARD:0007148, PMID:17118657] xref: DOID:0111267 {source="MONDO:equivalentTo"} xref: GARD:7148 {source="Orphanet:53698"} xref: ICD10CM:G71.2 {source="Orphanet:53698", source="Orphanet:53698/attributed", source="Orphanet:53698/ntbt"} +xref: icd11.foundation:352828432 {source="MONDO:equivalentTo"} xref: Orphanet:53698 {source="MONDO:equivalentTo"} is_a: MONDO:0016195 {source="Orphanet:209185"} ! qualitative or quantitative defects of beta-myosin heavy chain (MYH7) is_a: MONDO:0019952 {source="Orphanet:53698"} ! congenital myopathy @@ -402584,6 +405465,7 @@ synonym: "SAMS 1-31" EXACT [Orphanet:53721] synonym: "spinal arteriovenous metameric syndrome" EXACT [Orphanet:53721] xref: GARD:11892 {source="Orphanet:53721"} xref: ICD10CM:Q27.3 {source="Orphanet:53721/ntbt", source="Orphanet:53721"} +xref: icd11.foundation:1451924695 {source="MONDO:equivalentTo"} xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10068841 {source="Orphanet:53721", source="Orphanet:53721/e"} xref: NCIT:C4485 {source="MONDO:equivalentTo"} @@ -402638,6 +405520,7 @@ synonym: "Plummer Vinson syndrome" RELATED [GARD:0008259] synonym: "Sideropenic dysphagia" EXACT [Orphanet:54028] xref: GARD:8259 {source="Orphanet:54028"} xref: ICD10CM:D50.1 {source="Orphanet:54028", source="Orphanet:54028/ntbt"} +xref: icd11.foundation:1568337509 {source="MONDO:equivalentTo"} xref: ICD9:280.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10040664 {source="Orphanet:54028", source="Orphanet:54028/e"} xref: MESH:D011004 {source="Orphanet:54028", source="MONDO:equivalentTo", source="Orphanet:54028/e"} @@ -402666,6 +405549,7 @@ synonym: "TTP" EXACT ABBREVIATION [Orphanet:54057] xref: DOID:10772 {source="MONDO:equivalentTo"} xref: GARD:16659 {source="Orphanet:54057"} xref: ICD10CM:M31.1 {source="Orphanet:54057/ntbt", source="Orphanet:54057", source="DOID:10772"} +xref: icd11.foundation:1708277768 {source="MONDO:equivalentTo"} xref: icd11.foundation:1708277768 {source="MONDO:equivalentTo", source="Orphanet:54057"} xref: MedDRA:10043648 {source="Orphanet:54057/e", source="Orphanet:54057"} xref: MESH:D011697 {source="Orphanet:54057/e", source="MONDO:equivalentTo", source="Orphanet:54057", source="DOID:10772"} @@ -402741,6 +405625,7 @@ synonym: "biparietal Alzheimer disease" EXACT [Orphanet:54247] synonym: "PCA" EXACT ABBREVIATION [Orphanet:54247] xref: GARD:18846 {source="Orphanet:54247"} xref: ICD10CM:G31.1 {source="Orphanet:54247/attributed", source="Orphanet:54247/ntbt", source="Orphanet:54247"} +xref: icd11.foundation:377572273 {source="MONDO:equivalentTo"} xref: icd11.foundation:377572273 {source="Orphanet:54247", source="MONDO:equivalentTo"} xref: Orphanet:54247 {source="MONDO:equivalentTo"} xref: SCTID:715574002 {source="MONDO:equivalentTo"} @@ -402820,6 +405705,7 @@ xref: DOID:0050868 {source="MONDO:equivalentTo", source="EFO:0000762"} xref: EFO:0000762 {source="MONDO:equivalentTo"} xref: GARD:18847 {source="Orphanet:54272"} xref: ICD10CM:D13.4 {source="Orphanet:54272/ntbt", source="Orphanet:54272"} +xref: icd11.foundation:1481070735 {source="MONDO:equivalentTo"} xref: ICDO:8170/0 {source="NCIT:C3758"} xref: MedDRA:10019827 {source="Orphanet:54272/e", source="Orphanet:54272"} xref: MESH:D018248 {source="Orphanet:54272/e", source="MONDO:equivalentTo", source="Orphanet:54272"} @@ -402849,6 +405735,7 @@ xref: EFO:0007476 {source="MONDO:equivalentTo"} xref: GARD:18848 {source="Orphanet:54368"} xref: ICD10CM:A07.8 {source="Orphanet:54368/ntbt", source="Orphanet:54368", source="DOID:9640"} xref: icd11.foundation:261748740 {source="Orphanet:54368", source="MONDO:equivalentTo"} +xref: icd11.foundation:261748740 {source="MONDO:equivalentTo"} xref: ICD9:136.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9640"} xref: MedDRA:10039483 {source="Orphanet:54368", source="Orphanet:54368/e"} xref: MESH:D012523 {source="Orphanet:54368", source="MONDO:equivalentTo", source="Orphanet:54368/e", source="DOID:9640", source="EFO:0007476"} @@ -402942,6 +405829,7 @@ xref: ICD10CM:C82.4 {source="Orphanet:545/btnt", source="Orphanet:545"} xref: ICD10CM:C82.5 {source="Orphanet:545/btnt", source="Orphanet:545"} xref: ICD10CM:C82.6 {source="Orphanet:545/btnt", source="Orphanet:545"} xref: ICD10CM:C82.9 {source="Orphanet:545/btnt", source="Orphanet:545"} +xref: icd11.foundation:797822185 {source="MONDO:equivalentTo"} xref: ICDO:9690/3 {source="NCIT:C3209"} xref: MESH:D008224 {source="Orphanet:545", source="DOID:0050873", source="MONDO:equivalentTo", source="Orphanet:545/e"} xref: NCIT:C3209 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -402986,6 +405874,7 @@ xref: DOID:3840 {source="MONDO:equivalentTo"} xref: EFO:1000209 {source="MONDO:equivalentTo"} xref: GARD:10486 {source="Orphanet:54595"} xref: ICD10CM:D44.4 {source="Orphanet:54595/specific", source="Orphanet:54595/e", source="Orphanet:54595"} +xref: icd11.foundation:339416892 {source="MONDO:equivalentTo"} xref: ICD9:237.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9350/1 {source="NCIT:C2964"} xref: MedDRA:10011318 {source="Orphanet:54595/e", source="Orphanet:54595"} @@ -403059,6 +405948,7 @@ synonym: "OCA" EXACT ABBREVIATION [Orphanet:55] xref: DOID:0050632 {source="MONDO:equivalentTo"} xref: GARD:10958 {source="Orphanet:55"} xref: ICD10CM:E70.3 {source="Orphanet:55/ntbt", source="Orphanet:55", source="DOID:0050632", source="Orphanet:55/inclusion"} +xref: icd11.foundation:1189424097 {source="MONDO:equivalentTo"} xref: icd11.foundation:1189424097 {source="Orphanet:55", source="MONDO:equivalentTo"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016115 {source="Orphanet:55", source="MONDO:equivalentTo", source="Orphanet:55/e"} @@ -403139,6 +406029,7 @@ xref: ICD10CM:E24.3 {source="Orphanet:553/btnt", source="Orphanet:553"} xref: ICD10CM:E24.4 {source="Orphanet:553/btnt", source="Orphanet:553"} xref: ICD10CM:E24.8 {source="Orphanet:553/btnt", source="Orphanet:553"} xref: ICD10CM:E24.9 {source="Orphanet:553/btnt", source="DOID:12252", source="Orphanet:553"} +xref: icd11.foundation:1654321425 {source="MONDO:equivalentTo"} xref: ICD9:255.0 {source="EFO:0003099", source="DOID:12252"} xref: MedDRA:10011652 {source="Orphanet:553/e", source="Orphanet:553"} xref: MedDRA:10020562 {source="Orphanet:553/e", source="Orphanet:553"} @@ -403269,6 +406160,7 @@ synonym: "polyostotic fibrous dysplasia" RELATED [DOID:1858, OMIM:174800] xref: DOID:1858 {source="MONDO:equivalentTo"} xref: GARD:6995 {source="Orphanet:562"} xref: ICD10CM:Q78.1 {source="MONDO:relatedTo", source="Orphanet:562/ntbt", source="Orphanet:562/inclusion", source="Orphanet:562"} +xref: icd11.foundation:132749439 {source="MONDO:equivalentTo"} xref: MESH:D005357 {source="DOID:1858"} xref: MESH:D005359 {source="Orphanet:562/e", source="MONDO:relatedTo", source="Orphanet:562"} xref: NCIT:C48627 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} @@ -403459,6 +406351,7 @@ synonym: "microphthalmia syndromic 1" RELATED [GARD:0000087] synonym: "syndromic microphthalmia type 1" RELATED [GARD:0000087] xref: GARD:87 {source="Orphanet:568"} xref: ICD10CM:Q11.2 {source="Orphanet:568", source="Orphanet:568/attributed", source="Orphanet:568/ntbt"} +xref: icd11.foundation:678242327 {source="MONDO:equivalentTo"} xref: NORD:1359 {source="MONDO:NORD"} xref: Orphanet:568 {source="GARD:0000087", source="MONDO:equivalentTo"} xref: UMLS:C0796016 {source="GARD:0000087", source="Orphanet:568", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:568/e"} @@ -403662,6 +406555,7 @@ subset: orphanet_rare {source="Orphanet:57777"} subset: rare xref: GARD:18852 {source="Orphanet:57777"} xref: ICD10CM:I42.8 {source="Orphanet:57777", source="Orphanet:57777/ntbt"} +xref: icd11.foundation:1268082489 {source="MONDO:equivalentTo"} xref: Orphanet:57777 {source="MONDO:equivalentTo"} xref: SCTID:725416005 {source="MONDO:equivalentTo"} xref: UMLS:C4511053 {source="MONDO:equivalentTo"} @@ -403681,6 +406575,7 @@ subset: rare synonym: "Myxoma with fibrous dysplasia" EXACT [Orphanet:57782] xref: GARD:18853 {source="Orphanet:57782"} xref: ICD10CM:M85.0 {source="Orphanet:57782", source="Orphanet:57782/attributed", source="Orphanet:57782/ntbt"} +xref: icd11.foundation:1153435718 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:57782 {source="MONDO:equivalentTo"} @@ -403769,6 +406664,7 @@ xref: ICD10CM:D16.6 {source="Orphanet:58040/btnt", source="Orphanet:58040"} xref: ICD10CM:D16.7 {source="Orphanet:58040/btnt", source="Orphanet:58040"} xref: ICD10CM:D16.8 {source="Orphanet:58040/btnt", source="Orphanet:58040"} xref: icd11.foundation:1948326341 {source="Orphanet:58040", source="MONDO:equivalentTo"} +xref: icd11.foundation:1948326341 {source="MONDO:equivalentTo"} xref: ICDO:9200/0 {source="NCIT:C3294"} xref: MedDRA:10004430 {source="Orphanet:58040", source="Orphanet:58040/e"} xref: MESH:D018215 {source="Orphanet:58040", source="MONDO:equivalentTo", source="Orphanet:58040/e"} @@ -403816,6 +406712,7 @@ xref: DOID:12801 {source="MONDO:equivalentTo"} xref: GARD:3807 {source="Orphanet:581"} xref: ICD10CM:E76.2 {source="Orphanet:581/inclusion", source="Orphanet:581/ntbt", source="Orphanet:581"} xref: ICD10CM:E76.22 {source="DOID:12801"} +xref: icd11.foundation:1477250013 {source="MONDO:equivalentTo"} xref: MedDRA:10056890 {source="Orphanet:581/e", source="Orphanet:581"} xref: MESH:D009084 {source="Orphanet:581/e", source="DOID:12801", source="Orphanet:581"} xref: NCIT:C61262 {source="DOID:12801", source="MONDO:equivalentTo"} @@ -403877,6 +406774,7 @@ xref: ICD10CM:E76.2 {source="Orphanet:582/inclusion", source="Orphanet:582", sou xref: ICD10CM:E76.210 {source="DOID:12804"} xref: ICD10CM:E76.219 {source="DOID:12804"} xref: icd11.foundation:2078241550 {source="MONDO:equivalentTo", source="Orphanet:582"} +xref: icd11.foundation:2078241550 {source="MONDO:equivalentTo"} xref: MedDRA:10028095 {source="Orphanet:582/e", source="Orphanet:582"} xref: MESH:D009085 {source="Orphanet:582/e", source="DOID:12804", source="Orphanet:582"} xref: NCIT:C61263 {source="MONDO:equivalentTo", source="DOID:12804"} @@ -403986,6 +406884,7 @@ synonym: "furunculoid myiasis" EXACT [Orphanet:591] synonym: "furunculous myiasis" EXACT [Orphanet:591] xref: GARD:2418 {source="Orphanet:591"} xref: ICD10CM:B87.0 {source="Orphanet:591", source="Orphanet:591/ntbt"} +xref: icd11.foundation:1861376017 {source="MONDO:equivalentTo"} xref: MESH:C538194 {source="MONDO:equivalentTo"} xref: Orphanet:591 {source="MONDO:equivalentTo"} xref: UMLS:C2931766 {source="MONDO:equivalentTo", source="Orphanet:591"} @@ -404036,6 +406935,7 @@ xref: GARD:10529 {source="Orphanet:593"} xref: HP:0003715 {source="MONDO:otherHierarchy"} xref: ICD10CM:G71.8 {source="Orphanet:593", source="Orphanet:593/attributed", source="Orphanet:593/ntbt"} xref: icd11.foundation:125656853 {source="MONDO:equivalentTo", source="Orphanet:593"} +xref: icd11.foundation:125656853 {source="MONDO:equivalentTo"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C580316 {source="MONDO:equivalentTo"} xref: NCIT:C83009 {source="MONDO:equivalentTo"} @@ -404125,6 +407025,7 @@ xref: DOID:0112107 {source="MONDO:equivalentTo"} xref: GARD:10731 {source="Orphanet:59306"} xref: HGNC:12811 {source="GARD:0010731"} xref: ICD10CM:G10 {source="Orphanet:59306", source="Orphanet:59306/attributed", source="Orphanet:59306/ntbt"} +xref: icd11.foundation:1749275115 {source="MONDO:equivalentTo"} xref: ICD9:289.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C564038 {source="MONDO:equivalentTo"} xref: OMIM:300842 {source="Orphanet:59306", source="Orphanet:59306/ntbt", source="MONDO:equivalentTo"} @@ -404152,6 +407053,7 @@ subset: orphanet_rare {source="Orphanet:59315"} subset: rare xref: GARD:18855 {source="Orphanet:59315"} xref: ICD10CM:Q04.3 {source="Orphanet:59315/ntbt", source="Orphanet:59315"} +xref: icd11.foundation:2112180041 {source="MONDO:equivalentTo"} xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:59315 {source="MONDO:equivalentTo"} xref: SCTID:442300000 {source="MONDO:equivalentTo"} @@ -404177,6 +407079,7 @@ synonym: "myotubular myopathy" EXACT [DOID:14717] xref: DOID:14717 {source="MONDO:equivalentTo"} xref: GARD:101 {source="Orphanet:595"} xref: ICD10CM:G71.2 {source="Orphanet:595/ntbt", source="Orphanet:595/inclusion", source="Orphanet:595"} +xref: icd11.foundation:742097637 {source="MONDO:equivalentTo"} xref: icd11.foundation:742097637 {source="MONDO:equivalentTo", source="Orphanet:595"} xref: MESH:D020914 {source="MONDO:relatedTo", source="DOID:14717"} xref: NCIT:C84648 {source="MONDO:relatedTo", source="DOID:14717"} @@ -404301,6 +407204,7 @@ synonym: "VCPDM" EXACT ABBREVIATION [Orphanet:600] synonym: "vocal cord and pharyngeal distal myopathy" RELATED [Orphanet:600] xref: GARD:1887 {source="Orphanet:600"} xref: ICD10CM:G71.0 {source="Orphanet:600/attributed", source="Orphanet:600/ntbt", source="Orphanet:600"} +xref: icd11.foundation:1133125258 {source="MONDO:equivalentTo"} xref: Orphanet:600 {source="MONDO:equivalentTo"} xref: UMLS:C1853723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016108 {source="Orphanet:600"} ! autosomal dominant distal myopathy @@ -404317,6 +407221,7 @@ subset: rare synonym: "Silver staining" EXACT [Orphanet:60014] xref: GARD:18856 {source="Orphanet:60014"} xref: ICD10CM:T56.8 {source="Orphanet:60014/ntbt", source="Orphanet:60014"} +xref: icd11.foundation:609692407 {source="MONDO:equivalentTo"} xref: MedDRA:10003094 {source="Orphanet:60014", source="Orphanet:60014/e"} xref: MESH:D001129 {source="Orphanet:60014", source="MONDO:equivalentTo", source="Orphanet:60014/e"} xref: Orphanet:60014 {source="MONDO:equivalentTo"} @@ -404345,6 +407250,7 @@ xref: DOID:0060285 {source="MONDO:equivalentTo"} xref: GARD:16662 {source="Orphanet:60015"} xref: HP:0002697 {source="DOID:0060285", source="MONDO:otherHierarchy"} xref: ICD10CM:Q75.8 {source="Orphanet:60015", source="Orphanet:60015/attributed", source="Orphanet:60015/ntbt"} +xref: icd11.foundation:905361904 {source="MONDO:equivalentTo"} xref: MESH:C566826 {source="DOID:0060285", source="MONDO:equivalentTo"} xref: OMIMPS:168500 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:60015 {source="DOID:0060285", source="MONDO:equivalentTo"} @@ -404406,6 +407312,7 @@ synonym: "recurrent respiratory papillomatosis" EXACT [NCIT:C128637] synonym: "respiratory papillomatosis, recurrent" RELATED [GARD:0000111] synonym: "RRP" EXACT ABBREVIATION [GARD:0000111, NCIT:C128637] xref: GARD:111 {source="Orphanet:60032"} +xref: icd11.foundation:151039887 {source="MONDO:equivalentTo"} xref: icd11.foundation:151039887 {source="Orphanet:60032", source="MONDO:equivalentTo"} xref: ICD9:078.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10059314 {source="Orphanet:60032", source="Orphanet:60032/e"} @@ -404459,6 +407366,7 @@ synonym: "pudendal neuralgia by pudendal nerve entrapment" EXACT [Orphanet:60039 synonym: "Pudendalgia" EXACT [Orphanet:60039] xref: GARD:10713 {source="Orphanet:60039"} xref: ICD10CM:M79.2 {source="Orphanet:60039", source="Orphanet:60039/ntbt"} +xref: icd11.foundation:1492963618 {source="MONDO:equivalentTo"} xref: ICD9:729.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D060545 {source="MONDO:equivalentTo", source="Orphanet:60039", source="Orphanet:60039/e"} xref: Orphanet:60039 {source="MONDO:equivalentTo"} @@ -404491,6 +407399,7 @@ synonym: "Rod-body myopathy" RELATED [GARD:0012033] xref: DOID:3191 {source="MONDO:equivalentTo"} xref: GARD:12033 {source="Orphanet:607"} xref: ICD10CM:G71.2 {source="Orphanet:607/inclusion", source="DOID:3191", source="Orphanet:607", source="Orphanet:607/ntbt"} +xref: icd11.foundation:1996502540 {source="MONDO:equivalentTo"} xref: icd11.foundation:1996502540 {source="MONDO:equivalentTo", source="Orphanet:607"} xref: MESH:D017696 {source="MONDO:equivalentTo", source="DOID:3191", source="Orphanet:607", source="Orphanet:607/e"} xref: OMIMPS:161800 {source="MONDO:equivalentTo", source="DOID:3191"} @@ -404524,6 +407433,7 @@ synonym: "Potassium aggravated myotonia" EXACT [NCIT:C122788] synonym: "Sodium Channel Muscle Disease" RELATED [OMIM:608390] xref: GARD:4459 {source="Orphanet:612"} xref: ICD10CM:G71.1 {source="Orphanet:612", source="Orphanet:612/attributed", source="Orphanet:612/ntbt"} +xref: icd11.foundation:1707250468 {source="MONDO:equivalentTo"} xref: MESH:C538353 {source="Orphanet:612", source="MONDO:equivalentTo", source="Orphanet:612/e"} xref: NCIT:C122788 {source="MONDO:equivalentTo"} xref: OMIM:608390 {source="Orphanet:612", source="MONDO:equivalentTo", source="Orphanet:612/e"} @@ -404556,6 +407466,7 @@ synonym: "congenital primary megalo-ureter" EXACT [Orphanet:617] xref: GARD:18700 {source="Orphanet:617"} xref: ICD10CM:Q62.2 {source="Orphanet:617/specific", source="Orphanet:617", source="Orphanet:617/e"} xref: icd11.foundation:566805920 {source="MONDO:equivalentTo", source="Orphanet:617"} +xref: icd11.foundation:566805920 {source="MONDO:equivalentTo"} xref: Orphanet:617 {source="MONDO:equivalentTo"} xref: SCTID:717459000 {source="MONDO:equivalentTo"} is_a: MONDO:0005240 {source="MONDO:Redundant", source="Orphanet:617", source="Orphanet:617/inferred"} ! kidney disorder @@ -404602,6 +407513,7 @@ subset: orphanet_rare {source="Orphanet:620"} subset: rare synonym: "universal mesentery" EXACT [Orphanet:620] xref: ICD10CM:Q43.3 {source="Orphanet:620", source="Orphanet:620/ntbt", source="Orphanet:620/inclusion"} +xref: icd11.foundation:2101515260 {source="MONDO:equivalentTo"} xref: Orphanet:620 {source="MONDO:equivalentObsolete"} xref: SCTID:52159006 {source="MONDO:equivalentTo"} xref: UMLS:C0266235 {source="MONDO:equivalentTo"} @@ -404650,6 +407562,7 @@ synonym: "homocystinuria without methylmalonic aciduria" EXACT [] synonym: "methylcobalamin deficiency" EXACT [Orphanet:622] xref: GARD:16537 {source="Orphanet:622"} xref: ICD10CM:E72.1 {source="Orphanet:622/attributed", source="Orphanet:622/ntbt", source="Orphanet:622"} +xref: icd11.foundation:726186034 {source="MONDO:equivalentTo"} xref: Orphanet:622 {source="MONDO:equivalentTo"} xref: SCTID:721225009 {source="MONDO:equivalentTo"} xref: UMLS:C4303479 {source="MONDO:equivalentTo"} @@ -404677,6 +407590,7 @@ xref: DOID:10983 {source="MONDO:equivalentTo"} xref: GARD:5785 {source="Orphanet:63"} xref: ICD10CM:Q87.8 {source="Orphanet:63/ntbt", source="Orphanet:63/inclusion", source="Orphanet:63"} xref: ICD10CM:Q87.81 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1170919425 {source="MONDO:equivalentTo"} xref: MedDRA:10001843 {source="Orphanet:63/e", source="Orphanet:63"} xref: MESH:D009394 {source="DOID:10983", source="MONDO:relatedTo", source="Orphanet:63/e", source="Orphanet:63"} xref: NCIT:C34842 {source="MONDO:equivalentTo"} @@ -404729,6 +407643,7 @@ subset: rare xref: GARD:10506 {source="Orphanet:63259"} xref: ICD10CM:Q00.2 {source="Orphanet:63259", source="MONDO:equivalentTo", source="Orphanet:63259/e", source="Orphanet:63259/specific"} xref: icd11.foundation:1558931335 {source="Orphanet:63259", source="MONDO:equivalentTo"} +xref: icd11.foundation:1558931335 {source="MONDO:equivalentTo"} xref: ICD9:740.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10022034 {source="Orphanet:63259", source="Orphanet:63259/e"} xref: NCIT:C124549 {source="MONDO:equivalentTo"} @@ -404754,6 +407669,7 @@ xref: GARD:10504 {source="Orphanet:63260"} xref: HP:0030770 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q00.1 {source="Orphanet:63260/e", source="Orphanet:63260/specific", source="Orphanet:63260"} xref: icd11.foundation:675690362 {source="MONDO:equivalentTo", source="Orphanet:63260"} +xref: icd11.foundation:675690362 {source="MONDO:equivalentTo"} xref: ICD9:740.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10011321 {source="Orphanet:63260/e", source="Orphanet:63260"} xref: NCIT:C98907 {source="MONDO:equivalentTo"} @@ -404839,6 +407755,7 @@ xref: EFO:0008602 {source="MONDO:equivalentTo"} xref: GARD:18858 {source="Orphanet:63455"} xref: ICD10CM:L10.8 {source="Orphanet:63455", source="Orphanet:63455/ntbt"} xref: ICD10CM:L10.81 {source="MONDO:equivalentTo"} +xref: icd11.foundation:104197957 {source="MONDO:equivalentTo"} xref: icd11.foundation:104197957 {source="Orphanet:63455", source="MONDO:equivalentTo"} xref: MedDRA:10057056 {source="Orphanet:63455", source="Orphanet:63455/e"} xref: Orphanet:63455 {source="MONDO:equivalentTo"} @@ -404878,6 +407795,7 @@ xref: DOID:0111253 {source="MONDO:equivalentTo"} xref: GARD:7866 {source="Orphanet:636"} xref: ICD10CM:Q85.0 {source="Orphanet:636/ntbt", source="Orphanet:636/inclusion", source="Orphanet:636"} xref: icd11.foundation:337970533 {source="Orphanet:636", source="MONDO:equivalentTo"} +xref: icd11.foundation:337970533 {source="MONDO:equivalentTo"} xref: ICD9:237.71 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10047712 {source="Orphanet:636", source="Orphanet:636/e"} xref: MESH:C538607 {source="MONDO:equivalentObsolete", source="Orphanet:636/e"} @@ -404958,6 +407876,7 @@ synonym: "sclerosing mediastinitis" EXACT [Orphanet:63999] xref: GARD:8337 {source="Orphanet:63999"} xref: ICD10CM:J98.5 {source="Orphanet:63999", source="Orphanet:63999/ntbt"} xref: icd11.foundation:123840075 {source="MONDO:equivalentTo", source="Orphanet:63999", source="https://orcid.org/0000-0001-5208-3432"} +xref: icd11.foundation:791747341 {source="MONDO:equivalentTo"} xref: MedDRA:10027074 {source="Orphanet:63999", source="Orphanet:63999/e"} xref: MESH:C536136 {source="MONDO:equivalentTo", source="Orphanet:63999", source="Orphanet:63999/e"} xref: NORD:1146 {source="MONDO:NORD"} @@ -405022,6 +407941,7 @@ synonym: "benign nonfamilial neonatal seizures" EXACT [Orphanet:64545] synonym: "BINS" EXACT ABBREVIATION [Orphanet:64545] xref: GARD:18860 {source="Orphanet:64545"} xref: ICD10CM:G40.4 {source="Orphanet:64545/ntbt", source="Orphanet:64545"} +xref: icd11.foundation:1131336245 {source="MONDO:equivalentTo"} xref: Orphanet:64545 {source="MONDO:equivalentTo"} xref: UMLS:CN205419 {source="MONDO:equivalentTo"} is_a: MONDO:0020070 {source="Orphanet:64545"} ! neonatal epilepsy syndrome @@ -405041,6 +407961,7 @@ synonym: "Niemann Pick Disease Type C" EXACT [NORD:1509] synonym: "NPC" BROAD ABBREVIATION [PMID:21502308] xref: GARD:7207 {source="Orphanet:646"} xref: ICD10CM:E75.2 {source="Orphanet:646/inclusion", source="Orphanet:646/ntbt", source="Orphanet:646"} +xref: icd11.foundation:812702125 {source="MONDO:equivalentTo"} xref: MESH:D052556 {source="Orphanet:646", source="MONDO:equivalentTo", source="Orphanet:646/e"} xref: NORD:1509 {source="MONDO:NORD"} xref: Orphanet:646 {source="MONDO:equivalentTo"} @@ -405075,6 +407996,7 @@ synonym: "Tolosa-Hunt syndrome" EXACT [DOID:1278] xref: DOID:1278 {source="MONDO:equivalentTo"} xref: GARD:7777 {source="Orphanet:64686"} xref: ICD10CM:H49.8 {source="Orphanet:64686/attributed", source="Orphanet:64686/ntbt", source="Orphanet:64686"} +xref: icd11.foundation:969826782 {source="MONDO:equivalentTo"} xref: MedDRA:10051526 {source="Orphanet:64686", source="Orphanet:64686/e"} xref: MESH:C531833 {source="Orphanet:64686", source="Orphanet:64686/e"} xref: MESH:D020333 {source="Orphanet:64686", source="DOID:1278", source="MONDO:equivalentTo", source="Orphanet:64686/e"} @@ -405109,6 +408031,7 @@ synonym: "Oroya fever" EXACT [DOID:0050398] xref: DOID:0050398 {source="MONDO:equivalentTo"} xref: GARD:18861 {source="Orphanet:64692"} xref: ICD10CM:A44.0 {source="Orphanet:64692/e", source="Orphanet:64692"} +xref: icd11.foundation:1031219789 {source="MONDO:equivalentTo"} xref: icd11.foundation:1031219789 {source="MONDO:equivalentTo", source="Orphanet:64692"} xref: MESH:D001474 {source="Orphanet:64692/e", source="Orphanet:64692"} xref: NCIT:C128441 {source="MONDO:equivalentTo"} @@ -405167,6 +408090,7 @@ subset: rare synonym: "ICE syndrome" EXACT [GARD:0000060, Orphanet:64734] xref: GARD:60 {source="Orphanet:64734"} xref: ICD10CM:H21.1 {source="Orphanet:64734", source="Orphanet:64734/attributed", source="Orphanet:64734/ntbt"} +xref: icd11.foundation:265074385 {source="MONDO:equivalentTo"} xref: MedDRA:10053678 {source="Orphanet:64734", source="Orphanet:64734/e"} xref: MESH:D057129 {source="MONDO:equivalentTo", source="Orphanet:64734", source="Orphanet:64734/e"} xref: NCIT:C84792 {source="MONDO:equivalentTo"} @@ -405194,6 +408118,7 @@ xref: ICD10CM:K85.2 {source="Orphanet:64740", source="Orphanet:64740/ntbt"} xref: ICD10CM:K85.3 {source="Orphanet:64740", source="Orphanet:64740/ntbt"} xref: ICD10CM:K85.8 {source="Orphanet:64740", source="Orphanet:64740/ntbt"} xref: ICD10CM:K85.9 {source="Orphanet:64740", source="Orphanet:64740/ntbt"} +xref: icd11.foundation:300900170 {source="MONDO:equivalentTo"} xref: MedDRA:10033657 {source="Orphanet:64740", source="Orphanet:64740/e"} xref: NCIT:C184324 {source="MONDO:equivalentTo"} xref: Orphanet:64740 {source="MONDO:equivalentObsolete"} @@ -405243,6 +408168,7 @@ synonym: "Riedel's fibrosing thyroiditis" EXACT [MONDO:0001948] xref: DOID:14351 {source="MONDO:equivalentTo"} xref: GARD:18866 {source="Orphanet:64744"} xref: ICD10CM:E06.5 {source="Orphanet:64744/ntbt", source="Orphanet:64744"} +xref: icd11.foundation:1357889668 {source="MONDO:equivalentTo"} xref: MedDRA:10039142 {source="Orphanet:64744", source="Orphanet:64744/e"} xref: NCIT:C35827 {source="DOID:14351", source="MONDO:equivalentTo"} xref: Orphanet:64744 {source="MONDO:equivalentTo"} @@ -405396,6 +408322,7 @@ xref: DOID:3490 {source="MONDO:equivalentTo"} xref: GARD:10955 {source="Orphanet:648"} xref: ICD10CM:Q87.1 {source="Orphanet:648/inclusion", source="Orphanet:648", source="DOID:3490", source="Orphanet:648/ntbt"} xref: icd11.foundation:1044395354 {source="MONDO:equivalentTo", source="Orphanet:648"} +xref: icd11.foundation:1044395354 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10029748 {source="Orphanet:648", source="Orphanet:648/e"} xref: MESH:D009634 {source="MONDO:equivalentTo", source="Orphanet:648", source="DOID:3490", source="Orphanet:648/e"} @@ -405442,6 +408369,7 @@ synonym: "Leber's disease" EXACT [DOID:14791] xref: DOID:14791 {source="MONDO:equivalentTo"} xref: GARD:634 {source="Orphanet:65"} xref: ICD10CM:H35.5 {source="Orphanet:65", source="Orphanet:65/index", source="Orphanet:65/ntbt", source="MONDO:directSiblingOf"} +xref: icd11.foundation:650490256 {source="MONDO:equivalentTo"} xref: MedDRA:10070667 {source="Orphanet:65", source="Orphanet:65/e"} xref: MESH:D057130 {source="Orphanet:65", source="DOID:14791", source="MONDO:equivalentTo", source="Orphanet:65/e"} xref: NCIT:C129075 {source="MONDO:equivalentTo"} @@ -405493,6 +408421,7 @@ synonym: "Tarlov cysts" RELATED [GARD:0009258] xref: EFO:1001858 {source="MONDO:equivalentTo"} xref: GARD:9258 {source="Orphanet:65250"} xref: ICD10CM:G54.8 {source="Orphanet:65250/ntbt", source="Orphanet:65250"} +xref: icd11.foundation:881909739 {source="MONDO:equivalentTo"} xref: MESH:D052958 {source="MONDO:equivalentTo"} xref: Orphanet:65250 {source="MONDO:equivalentTo"} xref: SCTID:81634008 {source="MONDO:equivalentTo"} @@ -405543,6 +408472,7 @@ synonym: "MEN2" EXACT ABBREVIATION [Orphanet:653] synonym: "multiple endocrine neoplasia type 2" EXACT [NCIT:C123329] xref: GARD:3830 {source="Orphanet:653"} xref: ICD10CM:D44.8 {source="Orphanet:653", source="Orphanet:653/attributed", source="Orphanet:653/ntbt"} +xref: icd11.foundation:1837913809 {source="MONDO:equivalentTo"} xref: ICD9:194.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:258.02 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10028191 {source="Orphanet:653", source="Orphanet:653/e"} @@ -405630,6 +408560,7 @@ xref: GARD:206 {source="Orphanet:655"} xref: HP:0000090 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q61.5 {source="Orphanet:655/attributed", source="Orphanet:655/ntbt", source="DOID:12712", source="Orphanet:655"} xref: icd11.foundation:158151813 {source="Orphanet:655", source="MONDO:equivalentTo"} +xref: icd11.foundation:158151813 {source="MONDO:equivalentTo"} xref: NCIT:C123200 {source="DOID:12712", source="MONDO:equivalentTo"} xref: OMIMPS:256100 {source="DOID:12712", source="MONDO:equivalentTo"} xref: Orphanet:655 {source="DOID:12712", source="MONDO:equivalentTo", source="GARD:0000206"} @@ -405656,6 +408587,7 @@ xref: GARD:3946 {source="Orphanet:656"} xref: ICD10CM:N04.1 {source="Orphanet:656", source="Orphanet:656/attributed", source="Orphanet:656/btnt"} xref: ICD10CM:N04.3 {source="Orphanet:656", source="Orphanet:656/attributed", source="Orphanet:656/btnt"} xref: ICD10CM:N04.8 {source="Orphanet:656", source="Orphanet:656/attributed", source="Orphanet:656/btnt"} +xref: icd11.foundation:1385860879 {source="MONDO:equivalentTo"} xref: Orphanet:656 {source="MONDO:equivalentTo"} xref: SCTID:718141008 {source="MONDO:equivalentTo"} xref: UMLS:C4273714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -405699,6 +408631,7 @@ xref: DOID:0070230 {source="MONDO:equivalentTo"} xref: GARD:12185 {source="Orphanet:65682"} xref: ICD10CM:K83.1 {source="Orphanet:65682/attributed", source="Orphanet:65682/ntbt", source="Orphanet:65682"} xref: icd11.foundation:288945286 {source="MONDO:equivalentTo", source="Orphanet:65682"} +xref: icd11.foundation:288945286 {source="MONDO:equivalentTo"} xref: OMIMPS:243300 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:65682 {source="MONDO:equivalentTo"} xref: SCTID:31155007 {source="MONDO:equivalentTo"} @@ -405805,6 +408738,7 @@ synonym: "type II Acrocephalopolysyndactyly" EXACT [NCIT:C98873] xref: DOID:0060234 {source="MONDO:equivalentTo"} xref: GARD:6003 {source="Orphanet:65759"} xref: ICD10CM:Q87.0 {source="Orphanet:65759", source="Orphanet:65759/index", source="Orphanet:65759/ntbt"} +xref: icd11.foundation:2132713612 {source="MONDO:equivalentTo"} xref: MESH:C563187 {source="DOID:0060234"} xref: NCIT:C98873 {source="DOID:0060234", source="MONDO:equivalentTo"} xref: NORD:897 {source="MONDO:NORD"} @@ -405870,6 +408804,7 @@ xref: DOID:0060327 {source="MONDO:equivalentTo"} xref: GARD:16540 {source="Orphanet:660"} xref: HP:0001539 {source="MONDO:otherHierarchy", source="DOID:0060327"} xref: ICD10CM:Q79.2 {source="DOID:0060327", source="Orphanet:660/ntbt", source="Orphanet:660"} +xref: icd11.foundation:1168696429 {source="MONDO:equivalentTo"} xref: icd11.foundation:1168696429 {source="MONDO:equivalentTo", source="Orphanet:660"} xref: ICD9:756.72 {source="DOID:0060327"} xref: MedDRA:10030308 {source="Orphanet:660/e", source="Orphanet:660"} @@ -405992,6 +408927,7 @@ synonym: "Vrolik's disease" EXACT [DOID:12347] xref: DOID:12347 {source="MONDO:equivalentTo"} xref: GARD:1017 {source="Orphanet:666"} xref: ICD10CM:Q78.0 {source="DOID:12347", source="Orphanet:666", source="MONDO:equivalentTo", source="Orphanet:666/e", source="Orphanet:666/specific"} +xref: icd11.foundation:1219932551 {source="MONDO:equivalentTo"} xref: icd11.foundation:1219932551 {source="Orphanet:666", source="MONDO:equivalentTo"} xref: ICD9:756.51 {source="DOID:12347", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10031243 {source="Orphanet:666", source="Orphanet:666/e"} @@ -406092,7 +409028,9 @@ xref: EFO:1000886 {source="MONDO:equivalentTo"} xref: GARD:7842 {source="Orphanet:66646"} xref: HP:0200151 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q82.2 {source="Orphanet:66646", source="Orphanet:66646/e"} +xref: icd11.foundation:1300710062 {source="MONDO:equivalentTo"} xref: icd11.foundation:1300710062 {source="Orphanet:66646", source="MONDO:equivalentTo"} +xref: icd11.foundation:1490397632 {source="MONDO:equivalentTo"} xref: ICDO:9740/1 {source="NCIT:C7137"} xref: MESH:D034701 {source="DOID:3663", source="Orphanet:66646", source="MONDO:equivalentTo", source="Orphanet:66646/e"} xref: NCIT:C7137 {source="DOID:3663", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -406126,6 +409064,8 @@ xref: DOID:355 {source="MONDO:equivalentTo"} xref: EFO:1000364 {source="MONDO:equivalentTo"} xref: GARD:18870 {source="Orphanet:66661"} xref: ICD10CM:C96.2 {source="Orphanet:66661/ntbt", source="Orphanet:66661", source="DOID:355"} +xref: icd11.foundation:1993363632 {source="MONDO:equivalentTo"} +xref: icd11.foundation:233404891 {source="MONDO:equivalentTo"} xref: icd11.foundation:233404891 {source="MONDO:equivalentTo", source="Orphanet:66661"} xref: ICD9:202.6 {source="DOID:355"} xref: ICDO:9740/3 {source="NCIT:C9348"} @@ -406161,6 +409101,8 @@ xref: EFO:1000932 {source="MONDO:equivalentTo"} xref: GARD:18871 {source="Orphanet:66662"} xref: ICD10CM:C96.2 {source="Orphanet:66662/ntbt", source="Orphanet:66662"} xref: icd11.foundation:29932455 {source="MONDO:equivalentTo", source="Orphanet:66662"} +xref: icd11.foundation:29932455 {source="MONDO:equivalentTo"} +xref: icd11.foundation:685477755 {source="MONDO:equivalentTo"} xref: ICDO:9740/1 {source="NCIT:C7136"} xref: MESH:D034801 {source="DOID:4659", source="EFO:1000932"} xref: NCIT:C7136 {source="MONDO:equivalentTo", source="DOID:4659", source="MONDO:exact-label-match", source="EFO:1000932"} @@ -406213,6 +409155,7 @@ synonym: "oto-palato-digital syndrome" EXACT [] synonym: "Taybi syndrome" RELATED EXCLUDE [Orphanet:669] synonym: "type 2 (Andre syndrome)" NARROW [GARD:0007293] xref: ICD10CM:Q87.0 {source="Orphanet:669/ntbt", source="Orphanet:669", source="Orphanet:669/index"} +xref: icd11.foundation:1506946342 {source="MONDO:equivalentTo"} xref: Orphanet:669 {source="MONDO:equivalentObsolete"} xref: SCTID:767130007 {source="MONDO:equivalentTo"} xref: UMLS:CN205496 {source="MONDO:equivalentTo"} @@ -406260,6 +409203,7 @@ subset: rare synonym: "SOD" EXACT ABBREVIATION [Orphanet:67039] xref: GARD:18872 {source="Orphanet:67039"} xref: ICD10CM:K00.4 {source="Orphanet:67039", source="Orphanet:67039/ntbt"} +xref: icd11.foundation:1309035766 {source="MONDO:equivalentTo"} xref: ICD9:524.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:67039 {source="MONDO:equivalentTo"} xref: SCTID:699756005 {source="MONDO:equivalentTo"} @@ -406324,6 +409268,7 @@ subset: rare synonym: "cutis verticis gyrata" EXACT [] xref: GARD:1643 {source="Orphanet:671"} xref: ICD10CM:Q82.8 {source="Orphanet:671/ntbt", source="Orphanet:671"} +xref: icd11.foundation:71926572 {source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:671 {source="GARD:0001643", source="MONDO:equivalentTo"} xref: SCTID:51603000 {source="MONDO:equivalentTo"} @@ -406343,6 +409288,7 @@ subset: rare synonym: "pancreas accessorium" RELATED [GARD:0000454] xref: GARD:454 {source="Orphanet:674"} xref: ICD10CM:Q45.3 {source="Orphanet:674/ntbt", source="Orphanet:674/inclusion", source="Orphanet:674"} +xref: icd11.foundation:240534435 {source="MONDO:equivalentTo"} xref: icd11.foundation:240534435 {source="MONDO:equivalentTo", source="Orphanet:674"} xref: MESH:C536003 {source="Orphanet:674/e", source="MONDO:equivalentTo", source="Orphanet:674"} xref: Orphanet:674 {source="MONDO:equivalentTo"} @@ -406367,6 +409313,8 @@ xref: DOID:6823 {source="MONDO:equivalentTo"} xref: EFO:1000446 {source="MONDO:equivalentTo"} xref: GARD:4210 {source="Orphanet:677"} xref: ICD10CM:C25.1 {source="Orphanet:677/ntbt", source="Orphanet:677"} +xref: icd11.foundation:1310236105 {source="MONDO:equivalentTo"} +xref: icd11.foundation:733863058 {source="MONDO:equivalentTo"} xref: MESH:C537162 {source="Orphanet:677", source="MONDO:equivalentTo", source="DOID:6823", source="Orphanet:677/e"} xref: NCIT:C4265 {source="MONDO:equivalentTo", source="DOID:6823"} xref: ONCOTREE:PB {source="MONDO:equivalentTo"} @@ -406412,6 +409360,7 @@ synonym: "supranuclear palsy, progressive" RELATED [GARD:0007471] xref: DOID:678 {source="MONDO:equivalentTo"} xref: GARD:7471 {source="Orphanet:683"} xref: ICD10CM:G23.1 {source="Orphanet:683/e", source="DOID:678", source="Orphanet:683/specific", source="Orphanet:683"} +xref: icd11.foundation:1493396558 {source="MONDO:equivalentTo"} xref: icd11.foundation:1493396558 {source="MONDO:equivalentTo", source="Orphanet:683"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10036813 {source="Orphanet:683/e", source="Orphanet:683"} @@ -406756,6 +409705,7 @@ synonym: "rare inherited metabolic disorder" NARROW [] synonym: "rare metabolic disease" RELATED [Orphanet:68367] xref: DOID:655 {source="MONDO:equivalentTo"} xref: GARD:22508 {source="Orphanet:68367"} +xref: icd11.foundation:733825440 {source="MONDO:equivalentTo"} xref: MedDRA:10058097 {source="Orphanet:68367/e", source="Orphanet:68367"} xref: MedDRA:10062018 {source="Orphanet:68367/e", source="Orphanet:68367"} xref: MESH:D008659 {source="Orphanet:68367/e", source="Orphanet:68367"} @@ -407008,6 +409958,7 @@ xref: DOID:2476 {source="MONDO:equivalentTo"} xref: GARD:6637 {source="Orphanet:685"} xref: ICD10CM:G11.4 {source="Orphanet:685/specific", source="Orphanet:685/e", source="DOID:2476", source="MONDO:equivalentTo", source="Orphanet:685"} xref: icd11.foundation:810807375 {source="MONDO:equivalentTo", source="Orphanet:685"} +xref: icd11.foundation:810807375 {source="MONDO:equivalentTo"} xref: ICD9:334.1 {source="DOID:2476", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10019903 {source="Orphanet:685/e", source="Orphanet:685"} xref: MESH:D015419 {source="MONDO:equivalentTo"} @@ -407058,6 +410009,7 @@ xref: ICD10CM:E85.4 {source="Orphanet:69/btnt", source="Orphanet:69"} xref: ICD10CM:E85.8 {source="Orphanet:69/btnt", source="Orphanet:69"} xref: ICD10CM:E85.9 {source="Orphanet:69/btnt", source="Orphanet:69", source="DOID:9120"} xref: icd11.foundation:2078467774 {source="Orphanet:69", source="MONDO:equivalentTo"} +xref: icd11.foundation:2078467774 {source="MONDO:equivalentTo"} xref: ICD9:277.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9120"} xref: ICD9:277.30 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9120"} xref: MedDRA:10002022 {source="Orphanet:69", source="Orphanet:69/e"} @@ -407228,6 +410180,7 @@ subset: rare synonym: "BSAS" EXACT [OMIM:601536] xref: GARD:16684 {source="Orphanet:69737"} xref: ICD10CM:Q87.8 {source="Orphanet:69737/attributed", source="Orphanet:69737/ntbt", source="Orphanet:69737"} +xref: icd11.foundation:1771217937 {source="MONDO:equivalentTo"} xref: OMIM:601536 {source="Orphanet:69737/ntbt", source="Orphanet:69737", source="MONDO:includedEntryInOMIM"} xref: Orphanet:69737 {source="MONDO:equivalentTo"} xref: UMLS:C1832216 {source="Orphanet:69737", source="MONDO:notFoundInDiseaseSubset"} @@ -407263,6 +410216,8 @@ subset: rare synonym: "follicular dyskeratoma" EXACT [Orphanet:69745] synonym: "isolated follicular keratosis" EXACT [NCIT:C4087] xref: GARD:18899 {source="Orphanet:69745"} +xref: icd11.foundation:1427186445 {source="MONDO:equivalentTo"} +xref: icd11.foundation:171852927 {source="MONDO:equivalentTo"} xref: MedDRA:10068856 {source="Orphanet:69745", source="Orphanet:69745/e"} xref: NCIT:C4087 {source="MONDO:equivalentTo"} xref: Orphanet:69745 {source="MONDO:equivalentTo"} @@ -407344,6 +410299,7 @@ synonym: "alopecia totalis" EXACT [] synonym: "total alopecia areata" RELATED [] xref: GARD:613 {source="Orphanet:700"} xref: ICD10CM:L63.0 {source="Orphanet:700", source="Orphanet:700/e", source="Orphanet:700/specific"} +xref: icd11.foundation:1633035058 {source="MONDO:equivalentTo"} xref: icd11.foundation:1633035058 {source="Orphanet:700", source="MONDO:equivalentTo"} xref: ICD9:704.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10001766 {source="Orphanet:700", source="Orphanet:700/e"} @@ -407380,6 +410336,7 @@ xref: ICD10CM:L12 {source="DOID:8506"} xref: ICD10CM:L12.0 {source="MONDO:equivalentTo", source="DOID:8506", source="Orphanet:703", source="Orphanet:703/e"} xref: ICD10CM:L12.9 {source="DOID:8506"} xref: icd11.foundation:233308710 {source="MONDO:equivalentTo", source="Orphanet:703"} +xref: icd11.foundation:233308710 {source="MONDO:equivalentTo"} xref: ICD9:694.5 {source="DOID:8506"} xref: MESH:D010391 {source="MONDO:equivalentTo", source="DOID:8506", source="Orphanet:703", source="EFO:0007187", source="Orphanet:703/e"} xref: NCIT:C34908 {source="DOID:8506"} @@ -407406,6 +410363,7 @@ synonym: "cardiomyopathy with myopathy due to COX deficiency" EXACT [Orphanet:70 synonym: "Leigh disease with myopathy" EXACT [Orphanet:70474] xref: GARD:16685 {source="Orphanet:70474"} xref: ICD10CM:G31.8 {source="Orphanet:70474/attributed", source="Orphanet:70474/ntbt", source="Orphanet:70474"} +xref: icd11.foundation:583594497 {source="MONDO:equivalentTo"} xref: Orphanet:70474 {source="MONDO:equivalentTo"} xref: UMLS:CN205578 {source="MONDO:equivalentTo"} is_a: MONDO:0009723 {source="Orphanet:70474"} ! Leigh syndrome @@ -407424,6 +410382,7 @@ subset: rare synonym: "Proctitis" EXACT [NORD:1615] xref: GARD:18900 {source="Orphanet:70475"} xref: ICD10CM:K62.7 {source="Orphanet:70475", source="MONDO:equivalentTo", source="Orphanet:70475/e"} +xref: icd11.foundation:177305885 {source="MONDO:equivalentTo"} xref: icd11.foundation:177305885 {source="Orphanet:70475", source="MONDO:equivalentTo"} xref: ICD9:569.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10037766 {source="Orphanet:70475", source="Orphanet:70475/e"} @@ -407450,6 +410409,7 @@ synonym: "Vernal Keratonconjunctivitis" EXACT [NORD:1826] synonym: "VKC" RELATED ABBREVIATION [GARD:0007854] xref: GARD:7854 {source="Orphanet:70476"} xref: ICD10CM:H16.2 {source="MONDO:relatedTo", source="Orphanet:70476", source="Orphanet:70476/ntbt"} +xref: icd11.foundation:670300288 {source="MONDO:equivalentTo"} xref: icd11.foundation:670300288 {source="MONDO:equivalentTo", source="Orphanet:70476"} xref: NORD:1826 {source="MONDO:NORD"} xref: Orphanet:70476 {source="MONDO:equivalentTo"} @@ -407525,6 +410485,7 @@ xref: ICD10CM:C22.1 {source="Orphanet:70567", source="DOID:4947", source="Orphan xref: ICD10CM:C24.0 {source="Orphanet:70567", source="Orphanet:70567/btnt"} xref: ICD10CM:C24.8 {source="Orphanet:70567", source="Orphanet:70567/btnt"} xref: ICD10CM:C24.9 {source="Orphanet:70567", source="Orphanet:70567/btnt"} +xref: icd11.foundation:2110597275 {source="MONDO:equivalentTo"} xref: ICDO:8160/3 {source="NCIT:C4436"} xref: MedDRA:10004593 {source="Orphanet:70567", source="Orphanet:70567/e"} xref: MedDRA:10008593 {source="Orphanet:70567", source="Orphanet:70567/e"} @@ -407642,6 +410603,7 @@ subset: rare synonym: "specific antibody deficiency" RELATED [GARD:0011903] xref: GARD:11903 {source="Orphanet:70593"} xref: ICD10CM:D80.8 {source="Orphanet:70593/attributed", source="Orphanet:70593/ntbt", source="Orphanet:70593"} +xref: icd11.foundation:849949348 {source="MONDO:equivalentTo"} xref: Orphanet:70593 {source="MONDO:equivalentTo"} xref: SCTID:234556002 {source="MONDO:equivalentTo"} xref: UMLS:C5399780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -407662,6 +410624,7 @@ synonym: "congenital EBV infection" EXACT [Orphanet:70596] synonym: "mother-to-child transmission of Epstein-Barr virus infection" EXACT [Orphanet:70596] xref: GARD:18903 {source="Orphanet:70596"} xref: ICD10CM:P35.8 {source="Orphanet:70596/ntbt", source="Orphanet:70596"} +xref: icd11.foundation:1861788994 {source="MONDO:equivalentTo"} xref: icd11.foundation:1861788994 {source="Orphanet:70596", source="MONDO:equivalentTo"} xref: Orphanet:70596 {source="MONDO:equivalentTo"} xref: SCTID:716660007 {source="MONDO:equivalentTo"} @@ -407695,6 +410658,7 @@ xref: ICD10CM:A20.3 {source="Orphanet:707/btnt", source="Orphanet:707"} xref: ICD10CM:A20.7 {source="Orphanet:707/btnt", source="Orphanet:707"} xref: ICD10CM:A20.8 {source="Orphanet:707/btnt", source="Orphanet:707"} xref: ICD10CM:A20.9 {source="Orphanet:707/btnt", source="Orphanet:707", source="DOID:3482"} +xref: icd11.foundation:1596449540 {source="MONDO:equivalentTo"} xref: ICD9:020 {source="DOID:3482"} xref: ICD9:020.9 {source="DOID:3482"} xref: ICD9:136.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -407814,6 +410778,7 @@ xref: DOID:8869 {source="EFO:0004256", source="MONDO:equivalentTo"} xref: EFO:0004256 {source="MONDO:equivalentTo", source="DOID:8869"} xref: GARD:6267 {source="Orphanet:71211"} xref: ICD10CM:G36.0 {source="Orphanet:71211", source="DOID:8869", source="Orphanet:71211/e"} +xref: icd11.foundation:744293382 {source="MONDO:equivalentTo"} xref: icd11.foundation:744293382 {source="Orphanet:71211", source="MONDO:equivalentTo"} xref: ICD9:341.0 {source="EFO:0004256", source="MONDO:equivalentTo", source="DOID:8869", source="MONDO:i2s"} xref: MedDRA:10029322 {source="Orphanet:71211", source="Orphanet:71211/e"} @@ -407872,6 +410837,7 @@ subset: orphanet_rare {source="Orphanet:71269"} subset: rare synonym: "bes" EXACT [Orphanet:71269] xref: ICD10CM:H05.2 {source="Orphanet:71269", source="Orphanet:71269/ntbt"} +xref: icd11.foundation:1241377630 {source="MONDO:equivalentTo"} xref: Orphanet:71269 {source="MONDO:equivalentObsolete"} xref: SCTID:719519007 {source="MONDO:equivalentTo"} xref: UMLS:C4304668 {source="MONDO:equivalentTo"} @@ -407949,6 +410915,7 @@ synonym: "RHNR" RELATED ABBREVIATION [OMIM:268150] xref: DOID:0050641 {source="MONDO:equivalentTo"} xref: GARD:12916 {source="Orphanet:71275"} xref: ICD10CM:D58.8 {source="Orphanet:71275/attributed", source="Orphanet:71275/ntbt", source="Orphanet:71275"} +xref: icd11.foundation:1554765420 {source="MONDO:equivalentTo"} xref: MESH:C562717 {source="MONDO:equivalentTo"} xref: OMIM:268150 {source="DOID:0050641", source="Orphanet:71275/ntbt", source="Orphanet:71275", source="MONDO:equivalentTo"} xref: Orphanet:71275 {source="MONDO:equivalentTo", source="OMIM:268150"} @@ -407970,6 +410937,7 @@ subset: orphanet_rare {source="Orphanet:71276"} subset: rare synonym: "Imploding antrum syndrome" EXACT [Orphanet:71276] xref: GARD:18910 {source="Orphanet:71276"} +xref: icd11.foundation:1204931989 {source="MONDO:equivalentTo"} xref: icd11.foundation:1204931989 {source="Orphanet:71276", source="MONDO:equivalentTo"} xref: ICD9:478.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:71276 {source="MONDO:equivalentTo"} @@ -408074,6 +411042,7 @@ subset: orphanet_rare {source="Orphanet:71518"} subset: rare xref: GARD:18913 {source="Orphanet:71518"} xref: ICD10CM:G24.3 {source="Orphanet:71518/attributed", source="Orphanet:71518/ntbt", source="Orphanet:71518"} +xref: icd11.foundation:545726308 {source="MONDO:equivalentTo"} xref: Orphanet:71518 {source="MONDO:equivalentTo"} xref: SCTID:719521002 {source="MONDO:equivalentTo"} xref: UMLS:C3494934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -408091,6 +411060,7 @@ subset: rare synonym: "psychogenic dystonia" EXACT [Orphanet:71519] xref: GARD:18914 {source="Orphanet:71519"} xref: ICD10CM:F44.4 {source="Orphanet:71519/ntbt", source="Orphanet:71519"} +xref: icd11.foundation:1905355308 {source="MONDO:equivalentTo"} xref: MedDRA:10072376 {source="Orphanet:71519/e", source="Orphanet:71519"} xref: Orphanet:71519 {source="MONDO:equivalentTo"} xref: UMLS:C0752208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -408218,6 +411188,7 @@ subset: orphanet_rare {source="Orphanet:720"} subset: rare xref: GARD:18703 {source="Orphanet:720"} xref: ICD10CM:L67.8 {source="Orphanet:720", source="Orphanet:720/attributed", source="Orphanet:720/ntbt"} +xref: icd11.foundation:674923489 {source="MONDO:equivalentTo"} xref: Orphanet:720 {source="MONDO:equivalentTo"} xref: SCTID:717360009 {source="MONDO:equivalentTo"} is_a: MONDO:0019278 {source="https://orcid.org/0000-0001-5208-3432"} ! hair anomaly @@ -408247,6 +411218,7 @@ xref: GARD:4386 {source="Orphanet:723"} xref: ICD10CM:B59 {source="DOID:11339", source="MONDO:equivalentTo"} xref: ICD10EXP:B59+ {source="Orphanet:723", source="Orphanet:723/e"} xref: ICD10EXP:J17.3* {source="Orphanet:723/ntbt", source="Orphanet:723"} +xref: icd11.foundation:404370038 {source="MONDO:equivalentTo"} xref: icd11.foundation:404370038 {source="Orphanet:723", source="MONDO:equivalentTo"} xref: ICD9:136.3 {source="DOID:11339"} xref: MESH:D011020 {source="DOID:11339", source="EFO:0007448", source="MONDO:equivalentTo"} @@ -408334,6 +411306,7 @@ synonym: "MPA" EXACT ABBREVIATION [Orphanet:727] xref: EFO:1000784 {source="MONDO:equivalentTo"} xref: GARD:3652 {source="Orphanet:727"} xref: ICD10CM:M31.7 {source="EFO:1000784", source="MONDO:equivalentTo", source="Orphanet:727", source="Orphanet:727/e"} +xref: icd11.foundation:999231798 {source="MONDO:equivalentTo"} xref: icd11.foundation:999231798 {source="MONDO:equivalentTo", source="Orphanet:727"} xref: MedDRA:10063344 {source="EFO:1000784", source="Orphanet:727", source="Orphanet:727/e"} xref: MESH:D055953 {source="EFO:1000784", source="MONDO:equivalentTo", source="Orphanet:727", source="Orphanet:727/e"} @@ -408365,6 +411338,7 @@ xref: DOID:2556 {source="MONDO:equivalentTo", source="EFO:1001148"} xref: EFO:1001148 {source="MONDO:equivalentTo"} xref: GARD:7417 {source="Orphanet:728"} xref: ICD10CM:M94.1 {source="DOID:2556", source="MONDO:equivalentTo", source="Orphanet:728", source="EFO:1001148", source="Orphanet:728/e"} +xref: icd11.foundation:1412888287 {source="MONDO:equivalentTo"} xref: icd11.foundation:1412888287 {source="MONDO:equivalentTo", source="Orphanet:728"} xref: ICD9:733.99 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10038304 {source="Orphanet:728", source="EFO:1001148", source="Orphanet:728/e"} @@ -408410,6 +411384,7 @@ xref: EFO:0003063 {source="MONDO:equivalentTo"} xref: GARD:7425 {source="Orphanet:732"} xref: ICD10CM:M33.2 {source="Orphanet:732", source="MONDO:equivalentTo", source="Orphanet:732/e"} xref: icd11.foundation:1157134196 {source="Orphanet:732", source="MONDO:equivalentTo"} +xref: icd11.foundation:1157134196 {source="MONDO:equivalentTo"} xref: ICD9:710.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:0003063"} xref: MedDRA:10036102 {source="Orphanet:732", source="Orphanet:732/e"} xref: MESH:D017285 {source="Orphanet:732", source="MONDO:equivalentTo", source="Orphanet:732/e", source="EFO:0003063"} @@ -408547,6 +411522,7 @@ xref: DOID:14174 {source="MONDO:equivalentTo"} xref: EFO:1000856 {source="MONDO:equivalentTo"} xref: GARD:10641 {source="Orphanet:73256"} xref: icd11.foundation:1247650801 {source="Orphanet:73256", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} +xref: icd11.foundation:2039766091 {source="MONDO:equivalentTo"} xref: ICDO:9506/1 {source="NCIT:C3791"} xref: MESH:D018306 {source="MONDO:equivalentTo", source="DOID:14174"} xref: NCIT:C3791 {source="MONDO:equivalentTo", source="DOID:14174", source="MONDO:exact-label-match"} @@ -408778,6 +411754,7 @@ xref: DOID:0050256 {source="MONDO:equivalentTo"} xref: GARD:683 {source="Orphanet:74"} xref: ICD10CM:B81.3 {source="Orphanet:74/btnt", source="Orphanet:74"} xref: ICD10CM:B83.2 {source="Orphanet:74/btnt", source="Orphanet:74"} +xref: icd11.foundation:1768378720 {source="MONDO:equivalentTo"} xref: ICD9:128.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10069517 {source="Orphanet:74/e", source="Orphanet:74"} xref: MESH:C536369 {source="Orphanet:74/e", source="MONDO:equivalentTo", source="Orphanet:74"} @@ -408805,6 +411782,7 @@ synonym: "severe hereditary thrombophilia due to congenital protein S deficiency xref: DOID:0111905 {source="MONDO:equivalentTo"} xref: GARD:16543 {source="Orphanet:743"} xref: ICD10CM:D68.5 {source="Orphanet:743/attributed", source="Orphanet:743/ntbt", source="Orphanet:743"} +xref: icd11.foundation:1305244529 {source="MONDO:equivalentTo"} xref: Orphanet:743 {source="MONDO:equivalentTo"} is_a: MONDO:0002304 {source="https://orcid.org/0000-0002-6601-2165"} ! protein S deficiency is_a: MONDO:0100240 {source="MONDO:0016320-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! inherited thrombophilia @@ -408831,6 +411809,7 @@ xref: DOID:3756 {source="MONDO:equivalentTo"} xref: GARD:16544 {source="Orphanet:745"} xref: ICD10CM:D68.2 {source="Orphanet:745/attributed", source="Orphanet:745/ntbt", source="Orphanet:745"} xref: ICD10CM:D68.59 {source="DOID:3756"} +xref: icd11.foundation:2021932081 {source="MONDO:equivalentTo"} xref: MESH:C535424 {source="MONDO:equivalentTo"} xref: MESH:D020151 {source="MONDO:equivalentTo", source="DOID:3756"} xref: NCIT:C99025 {source="MONDO:equivalentTo", source="DOID:3756"} @@ -408891,6 +411870,7 @@ xref: ICD10CM:B87.3 {source="Orphanet:75110/btnt", source="Orphanet:75110"} xref: ICD10CM:B87.4 {source="Orphanet:75110/btnt", source="Orphanet:75110"} xref: ICD10CM:B87.8 {source="Orphanet:75110/btnt", source="Orphanet:75110"} xref: ICD10CM:B87.9 {source="DOID:11080", source="Orphanet:75110/btnt", source="Orphanet:75110"} +xref: icd11.foundation:1367149207 {source="MONDO:equivalentTo"} xref: ICD9:134.0 {source="DOID:11080", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10028586 {source="Orphanet:75110/e", source="Orphanet:75110"} xref: MESH:D009198 {source="EFO:0007389", source="DOID:11080", source="Orphanet:75110/e", source="MONDO:equivalentTo", source="Orphanet:75110"} @@ -408933,6 +411913,7 @@ synonym: "xanthomatosis, familial" EXACT [DOID:14497] xref: DOID:14497 {source="MONDO:equivalentTo"} xref: GARD:7899 {source="Orphanet:75233"} xref: ICD10CM:E75.5 {source="Orphanet:75233", source="Orphanet:75233/ntbt", source="DOID:14497", source="Orphanet:75233/inclusion"} +xref: icd11.foundation:520367511 {source="MONDO:equivalentTo"} xref: MedDRA:10053687 {source="Orphanet:75233", source="Orphanet:75233/e"} xref: MESH:C564736 {source="MONDO:equivalentTo"} xref: MESH:D015223 {source="Orphanet:75233", source="MONDO:equivalentTo", source="Orphanet:75233/e", source="DOID:14497"} @@ -408973,6 +411954,7 @@ synonym: "lysosomal and lipase deficiency" RELATED [DOID:0080217] xref: DOID:14502 {source="MONDO:equivalentTo"} xref: GARD:12097 {source="Orphanet:275761"} xref: ICD10CM:E75.5 {source="Orphanet:75234", source="Orphanet:75234/attributed", source="Orphanet:75234/ntbt"} +xref: icd11.foundation:894336362 {source="MONDO:equivalentTo"} xref: MESH:D015217 {source="DOID:14502"} xref: NORD:929 {source="MONDO:NORD"} xref: OMIM:278000 {source="Orphanet:275761", source="MONDO:equivalentTo", source="DOID:0080217", source="Orphanet:275761/e"} @@ -409016,6 +411998,7 @@ subset: orphanet_rare {source="Orphanet:75378"} subset: rare synonym: "Oligocone syndrome" EXACT [Orphanet:75378] xref: GARD:18925 {source="Orphanet:75378"} +xref: icd11.foundation:645985320 {source="MONDO:equivalentTo"} xref: Orphanet:75378 {source="MONDO:equivalentTo"} xref: SCTID:722066001 {source="MONDO:equivalentTo"} xref: UMLS:C4302876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -409036,6 +412019,7 @@ synonym: "Oguchi syndrome" EXACT [Orphanet:75382] synonym: "stationary night blindness, Oguchi type" RELATED [GARD:0010118] xref: GARD:10118 {source="Orphanet:75382"} xref: ICD10CM:H53.6 {source="Orphanet:75382", source="Orphanet:75382/ntbt", source="Orphanet:75382/index"} +xref: icd11.foundation:1759055065 {source="MONDO:equivalentTo"} xref: MESH:C537743 {source="Orphanet:75382/e", source="MONDO:equivalentTo", source="Orphanet:75382"} xref: Orphanet:75382 {source="MONDO:equivalentTo"} xref: UMLS:C1306122 {source="Orphanet:75382/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:75382"} @@ -409148,6 +412132,7 @@ synonym: "Male pseudohermaphroditism due to luteinizing hormone resistance or lu xref: DOID:0112259 {source="MONDO:equivalentTo"} xref: GARD:3244 {source="Orphanet:755"} xref: ICD10CM:Q56.1 {source="Orphanet:755", source="Orphanet:755/attributed", source="Orphanet:755/ntbt"} +xref: icd11.foundation:472787488 {source="MONDO:equivalentTo"} xref: MedDRA:10024406 {source="Orphanet:755", source="Orphanet:755/e"} xref: MESH:C562567 {source="MONDO:equivalentTo"} xref: Orphanet:755 {source="GARD:0003244", source="MONDO:equivalentTo"} @@ -409247,6 +412232,7 @@ synonym: "eosinophilic endomyocardial disease" EXACT [DOID:396, NCIT:C27044] xref: DOID:396 {source="MONDO:equivalentTo"} xref: GARD:18929 {source="Orphanet:75566"} xref: ICD10CM:I42.3 {source="Orphanet:75566", source="Orphanet:75566/ntbt", source="DOID:396"} +xref: icd11.foundation:1223390562 {source="MONDO:equivalentTo"} xref: MedDRA:10052841 {source="Orphanet:75566", source="Orphanet:75566/e"} xref: NCIT:C27044 {source="MONDO:equivalentTo", source="DOID:396"} xref: Orphanet:75566 {source="MONDO:equivalentTo"} @@ -409267,6 +412253,7 @@ subset: orphanet_rare {source="Orphanet:75567"} subset: rare synonym: "PPFG" EXACT ABBREVIATION [Orphanet:75567] xref: GARD:18930 {source="Orphanet:75567"} +xref: icd11.foundation:431694225 {source="MONDO:equivalentTo"} xref: Orphanet:75567 {source="MONDO:equivalentTo"} xref: SCTID:715627004 {source="MONDO:equivalentTo"} xref: UMLS:C4275078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -409287,6 +412274,7 @@ synonym: "PHA1B" EXACT ABBREVIATION [NCIT:C123251] synonym: "pseudohypoaldosteronism type I autosomal recessive" EXACT [NCIT:C123251] xref: GARD:16545 {source="Orphanet:756"} xref: ICD10CM:N25.8 {source="Orphanet:756/attributed", source="Orphanet:756/ntbt", source="Orphanet:756"} +xref: icd11.foundation:1576878036 {source="MONDO:equivalentTo"} xref: icd11.foundation:1576878036 {source="Orphanet:756", source="MONDO:equivalentTo"} xref: ICD9:275.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D011546 {source="Orphanet:756", source="Orphanet:756/e"} @@ -409322,6 +412310,7 @@ synonym: "pseudohypoaldosteronism, type II" EXACT [OMIMPS:145260] synonym: "Spitzer-Weinstein syndrome" EXACT [Orphanet:757] xref: GARD:4553 {source="Orphanet:757"} xref: ICD10CM:I15.1 {source="Orphanet:757/attributed", source="Orphanet:757/ntbt", source="Orphanet:757"} +xref: icd11.foundation:715347509 {source="MONDO:equivalentTo"} xref: ICD9:588.89 xref: NCIT:C123252 {source="MONDO:equivalentTo"} xref: OMIMPS:145260 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} @@ -409373,6 +412362,7 @@ synonym: "precocious puberty, central" EXACT [OMIMPS:176400] xref: DOID:0112308 {source="MONDO:equivalentTo"} xref: GARD:16546 {source="Orphanet:759"} xref: ICD10CM:E22.8 {source="Orphanet:759", source="Orphanet:759/ntbt"} +xref: icd11.foundation:1749914533 {source="MONDO:equivalentTo"} xref: icd11.foundation:1749914533 {source="MONDO:equivalentTo", source="Orphanet:759"} xref: ICD9:259.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C562787 {source="MONDO:equivalentTo"} @@ -409464,6 +412454,7 @@ xref: DOID:876 {source="MONDO:equivalentTo"} xref: EFO:1001409 {source="MONDO:equivalentTo"} xref: GARD:4614 {source="Orphanet:764"} xref: ICD10CM:M60.0 {source="Orphanet:764", source="DOID:876", source="Orphanet:764/ntbt"} +xref: icd11.foundation:856598467 {source="MONDO:equivalentTo"} xref: ICD9:040.81 {source="DOID:876", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10037652 {source="Orphanet:764", source="Orphanet:764/e"} xref: MESH:D052880 {source="Orphanet:764", source="DOID:876", source="MONDO:equivalentTo", source="Orphanet:764/e"} @@ -409544,6 +412535,7 @@ xref: DOID:9810 {source="MONDO:equivalentTo"} xref: GARD:7360 {source="Orphanet:767"} xref: ICD10CM:M30.0 {source="DOID:9810", source="Orphanet:767", source="MONDO:equivalentTo", source="Orphanet:767/e"} xref: icd11.foundation:1419332129 {source="Orphanet:767", source="MONDO:equivalentTo"} +xref: icd11.foundation:1419332129 {source="MONDO:equivalentTo"} xref: ICD9:446.0 {source="DOID:9810", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10036024 {source="Orphanet:767", source="Orphanet:767/e"} xref: MESH:D010488 {source="DOID:9810", source="Orphanet:767", source="MONDO:equivalentTo", source="Orphanet:767/e"} @@ -409606,6 +412598,7 @@ subset: rare synonym: "aplasia of iris" EXACT [DOID:12271] xref: DOID:12271 {source="MONDO:equivalentTo"} xref: ICD10CM:Q13.1 {source="Orphanet:77/attributed", source="Orphanet:77/ntbt", source="Orphanet:77", source="DOID:12271"} +xref: icd11.foundation:970699895 {source="MONDO:equivalentTo"} xref: ICD9:743.45 {source="MONDO:equivalentTo", source="DOID:12271", source="MONDO:i2s"} xref: MedDRA:10002532 {source="Orphanet:77", source="Orphanet:77/e"} xref: MESH:C538293 {source="Orphanet:77", source="Orphanet:77/e"} @@ -409638,6 +412631,7 @@ xref: ICD10CM:A82.0 {source="Orphanet:770/btnt", source="Orphanet:770"} xref: ICD10CM:A82.1 {source="Orphanet:770/btnt", source="Orphanet:770"} xref: ICD10CM:A82.9 {source="DOID:11260", source="Orphanet:770/btnt", source="Orphanet:770"} xref: icd11.foundation:854762584 {source="MONDO:equivalentTo", source="Orphanet:770"} +xref: icd11.foundation:854762584 {source="MONDO:equivalentTo"} xref: ICD9:071 {source="DOID:11260", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10037742 {source="Orphanet:770/e", source="Orphanet:770"} xref: MESH:D011818 {source="Orphanet:770/e", source="DOID:11260", source="MONDO:equivalentTo", source="Orphanet:770"} @@ -409933,6 +412927,7 @@ xref: DOID:11100 {source="EFO:0005224", source="MONDO:equivalentTo"} xref: EFO:0005224 {source="MONDO:equivalentTo"} xref: GARD:7515 {source="Orphanet:781"} xref: ICD10CM:A78 {source="Orphanet:781/e", source="MONDO:equivalentTo", source="DOID:11100", source="Orphanet:781"} +xref: icd11.foundation:2113860626 {source="MONDO:equivalentTo"} xref: icd11.foundation:2113860626 {source="MONDO:equivalentTo", source="Orphanet:781"} xref: ICD9:083.0 {source="EFO:0005224", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11100"} xref: MedDRA:10037688 {source="Orphanet:781/e", source="Orphanet:781"} @@ -410023,6 +413018,7 @@ xref: DECIPHER:7 {source="MONDO:equivalentTo"} xref: DOID:1933 {source="MONDO:equivalentTo"} xref: GARD:7593 {source="Orphanet:783"} xref: ICD10CM:Q87.2 {source="Orphanet:783/ntbt", source="DOID:1933", source="Orphanet:783/inclusion", source="Orphanet:783"} +xref: icd11.foundation:692585833 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10039281 {source="Orphanet:783/e", source="Orphanet:783"} xref: MESH:D012415 {source="Orphanet:783/e", source="MONDO:equivalentTo", source="DOID:1933", source="Orphanet:783"} @@ -410082,6 +413078,7 @@ synonym: "infantile onset juvenile polyposis syndrome" EXACT [MONDO:design_patte synonym: "juvenile polyposis syndrome of infancy" EXACT [MONDO:design_pattern, MONDO:patterns/infantile] xref: GARD:16696 {source="Orphanet:79076"} xref: ICD10CM:D12.6 {source="Orphanet:79076", source="Orphanet:79076/attributed", source="Orphanet:79076/ntbt"} +xref: icd11.foundation:378686036 {source="MONDO:equivalentTo"} xref: Orphanet:79076 {source="MONDO:equivalentTo"} xref: UMLS:C5445164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017380 {source="MONDO:Redundant", source="Orphanet:79076"} ! juvenile polyposis syndrome @@ -410106,6 +413103,7 @@ synonym: "Mikulicz's disease (former)" RELATED [GARD:0007043] xref: DOID:12900 {source="MONDO:equivalentTo"} xref: GARD:7043 {source="Orphanet:79078"} xref: ICD10CM:K11.8 {source="DOID:12900", source="Orphanet:79078", source="Orphanet:79078/ntbt"} +xref: icd11.foundation:796087277 {source="MONDO:equivalentTo"} xref: MedDRA:10051457 {source="Orphanet:79078/e", source="Orphanet:79078"} xref: MedDRA:10052317 {source="Orphanet:79078/e", source="Orphanet:79078"} xref: MESH:D008882 {source="Orphanet:79078/e", source="DOID:12900", source="MONDO:equivalentTo", source="Orphanet:79078"} @@ -410257,6 +413255,7 @@ subset: rare synonym: "Folinic acid responsive seizures" EXACT [https://orcid.org/0000-0001-5208-3432, https://www.epilepsydiagnosis.org/etiology/metabolic-groupoverview.html] xref: GARD:18938 {source="Orphanet:79097"} xref: ICD10CM:G40.3 {source="Orphanet:79097", source="Orphanet:79097/attributed", source="Orphanet:79097/ntbt"} +xref: icd11.foundation:723504178 {source="MONDO:equivalentTo"} xref: Orphanet:79097 {source="MONDO:equivalentTo"} xref: SCTID:717276003 {source="MONDO:equivalentTo"} xref: UMLS:CN205780 {source="MONDO:equivalentTo"} @@ -410280,6 +413279,7 @@ xref: EFO:1001205 {source="MONDO:equivalentTo"} xref: GARD:18939 {source="Orphanet:79098"} xref: ICD10CM:H44.1 {source="Orphanet:79098", source="Orphanet:79098/ntbt"} xref: ICD10CM:H44.13 {source="DOID:12029"} +xref: icd11.foundation:1639718137 {source="MONDO:equivalentTo"} xref: ICD9:360.11 {source="DOID:12029", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10042742 {source="Orphanet:79098", source="EFO:1001205", source="Orphanet:79098/e"} xref: MESH:D009879 {source="DOID:12029", source="MONDO:equivalentTo", source="Orphanet:79098", source="EFO:1001205", source="Orphanet:79098/e"} @@ -410357,6 +413357,7 @@ subset: rare synonym: "thyrotoxic hypokalemic periodic paralysis" EXACT [Orphanet:79102] xref: GARD:10814 {source="Orphanet:79102"} xref: ICD10CM:G72.3 {source="Orphanet:79102/ntbt", source="Orphanet:79102"} +xref: icd11.foundation:1457837313 {source="MONDO:equivalentTo"} xref: MedDRA:10043788 {source="Orphanet:79102/e", source="Orphanet:79102"} xref: OMIMPS:188580 {source="MONDO:equivalentTo"} xref: Orphanet:79102 {source="MONDO:equivalentTo"} @@ -410386,6 +413387,7 @@ synonym: "myxoid MFH" EXACT [NCIT:C6496] xref: DOID:0080534 {source="MONDO:equivalentTo"} xref: GARD:18941 {source="Orphanet:79105"} xref: ICD10CM:C49.9 {source="Orphanet:79105", source="Orphanet:79105/ntbt"} +xref: icd11.foundation:1931778850 {source="MONDO:equivalentTo"} xref: icd11.foundation:405689402 {source="Orphanet:79105", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} xref: ICDO:8811/3 {source="NCIT:C6496"} xref: MedDRA:10066948 {source="Orphanet:79105", source="Orphanet:79105/e"} @@ -410504,6 +413506,7 @@ subset: orphanet_rare {source="Orphanet:79138"} subset: rare xref: GARD:18944 {source="Orphanet:79138"} xref: ICD10CM:G61.0 {source="Orphanet:79138", source="Orphanet:79138/ntbt"} +xref: icd11.foundation:163316971 {source="MONDO:equivalentTo"} xref: ICD9:323.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:79138 {source="MONDO:equivalentTo"} xref: SCTID:427086003 {source="MONDO:equivalentTo"} @@ -410527,6 +413530,7 @@ xref: EFO:0007332 {source="MONDO:equivalentTo"} xref: GARD:6797 {source="Orphanet:79139"} xref: ICD10CM:A83.0 {source="Orphanet:79139", source="DOID:10844", source="Orphanet:79139/e"} xref: icd11.foundation:961032639 {source="Orphanet:79139", source="MONDO:equivalentTo"} +xref: icd11.foundation:961032639 {source="MONDO:equivalentTo"} xref: ICD9:062.0 {source="DOID:10844", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10014596 {source="Orphanet:79139", source="Orphanet:79139/e"} xref: MESH:D004672 {source="Orphanet:79139", source="DOID:10844", source="MONDO:equivalentTo", source="Orphanet:79139/e", source="EFO:0007332"} @@ -410581,6 +413585,7 @@ xref: ICD10CM:C44.3 {source="Orphanet:79140", source="Orphanet:79140/btnt"} xref: ICD10CM:C44.6 {source="Orphanet:79140", source="Orphanet:79140/btnt"} xref: ICD10CM:C44.7 {source="Orphanet:79140", source="Orphanet:79140/btnt"} xref: icd11.foundation:680322043 {source="MONDO:equivalentTo", source="Orphanet:79140"} +xref: icd11.foundation:680322043 {source="MONDO:equivalentTo"} xref: ICD9:209.36 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8247/3 {source="NCIT:C9231"} xref: MESH:D015266 {source="MONDO:equivalentTo"} @@ -410629,6 +413634,7 @@ subset: orphanet_rare {source="Orphanet:79152"} subset: rare xref: GARD:10983 {source="Orphanet:79152"} xref: ICD10CM:Q82.8 {source="Orphanet:79152", source="Orphanet:79152/attributed", source="Orphanet:79152/ntbt"} +xref: icd11.foundation:1828294192 {source="MONDO:equivalentTo"} xref: ICD9:692.75 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: Orphanet:79152 {source="MONDO:equivalentTo"} xref: SCTID:41495000 {source="MONDO:equivalentTo"} @@ -411371,6 +414377,7 @@ subset: orphanet_rare {source="Orphanet:79212"} subset: rare xref: DOID:0080488 {source="MONDO:equivalentTo"} xref: GARD:18975 {source="Orphanet:79212"} +xref: icd11.foundation:714623911 {source="MONDO:equivalentTo"} xref: icd11.foundation:714623911 {source="MONDO:equivalentTo", source="Orphanet:79212"} xref: MESH:D009081 {source="Orphanet:79212/e", source="MONDO:equivalentTo", source="Orphanet:79212"} xref: NCIT:C61267 {source="MONDO:equivalentTo"} @@ -411402,6 +414409,7 @@ xref: ICD10CM:E76.1 {source="Orphanet:79213/specific", source="Orphanet:79213/bt xref: ICD10CM:E76.2 {source="Orphanet:79213/specific", source="Orphanet:79213/btnt", source="Orphanet:79213"} xref: ICD10CM:E76.3 {source="Orphanet:79213/specific", source="DOID:12798", source="Orphanet:79213/btnt", source="Orphanet:79213"} xref: icd11.foundation:1596128696 {source="MONDO:equivalentTo", source="Orphanet:79213"} +xref: icd11.foundation:1596128696 {source="MONDO:equivalentTo"} xref: ICD9:277.5 {source="DOID:12798", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10028093 {source="Orphanet:79213/e", source="Orphanet:79213"} xref: MESH:D009083 {source="DOID:12798", source="Orphanet:79213/e", source="MONDO:equivalentTo", source="Orphanet:79213"} @@ -411446,6 +414454,7 @@ subset: orphanet_rare {source="Orphanet:79215"} subset: rare xref: GARD:18977 {source="Orphanet:79215"} xref: ICD10CM:E77.1 {source="Orphanet:79215", source="Orphanet:79215/attributed", source="Orphanet:79215/ntbt"} +xref: icd11.foundation:1805681916 {source="MONDO:equivalentTo"} xref: icd11.foundation:1805681916 {source="Orphanet:79215", source="MONDO:equivalentTo"} xref: Orphanet:79215 {source="MONDO:equivalentTo"} is_a: MONDO:0015327 {source="Orphanet:79215"} ! developmental anomaly of metabolic origin @@ -411474,6 +414483,7 @@ subset: ordo_group_of_disorders {source="Orphanet:79219"} subset: orphanet_rare {source="Orphanet:79219"} subset: rare xref: GARD:18979 {source="Orphanet:79219"} +xref: icd11.foundation:946446904 {source="MONDO:equivalentTo"} xref: Orphanet:79219 {source="MONDO:equivalentTo"} xref: UMLS:CN205839 {source="MONDO:equivalentTo"} is_a: MONDO:0019250 {source="Orphanet:79219"} ! inborn disorder of biogenic amine metabolism and transport @@ -411529,6 +414539,7 @@ xref: ICD10CM:E75.0 {source="Orphanet:79225/specific", source="Orphanet:79225/bt xref: ICD10CM:E75.1 {source="Orphanet:79225/specific", source="Orphanet:79225/btnt", source="Orphanet:79225"} xref: ICD10CM:E75.2 {source="Orphanet:79225/specific", source="Orphanet:79225/btnt", source="Orphanet:79225"} xref: ICD10CM:E75.3 {source="DOID:1927", source="Orphanet:79225/specific", source="Orphanet:79225/btnt", source="Orphanet:79225"} +xref: icd11.foundation:1875237176 {source="MONDO:equivalentTo"} xref: icd11.foundation:1875237176 {source="MONDO:equivalentTo", source="Orphanet:79225"} xref: MESH:D013106 {source="DOID:1927", source="Orphanet:79225/e", source="MONDO:equivalentTo", source="Orphanet:79225"} xref: NCIT:C117254 {source="DOID:1927", source="MONDO:equivalentTo"} @@ -411648,6 +414659,7 @@ synonym: "neuronal ceroid lipofuscinosis 4" RELATED [GARD:0010973] synonym: "neuronal ceroid lipofuscinosis of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: GARD:10973 {source="Orphanet:79262"} xref: ICD10CM:E75.4 {source="Orphanet:79262", source="Orphanet:79262/attributed", source="Orphanet:79262/ntbt"} +xref: icd11.foundation:1460031344 {source="MONDO:equivalentTo"} xref: MESH:C537950 {source="Orphanet:79262", source="Orphanet:79262/e"} xref: NORD:1341 {source="MONDO:NORD"} xref: Orphanet:79262 {source="MONDO:equivalentTo"} @@ -411678,6 +414690,7 @@ synonym: "Santavuori disease" EXACT [Orphanet:79263] synonym: "Santavuori-Haltia disease" EXACT [Orphanet:79263] xref: GARD:9447 {source="Orphanet:79263"} xref: ICD10CM:E75.4 {source="Orphanet:79263", source="Orphanet:79263/attributed", source="Orphanet:79263/ntbt"} +xref: icd11.foundation:797123687 {source="MONDO:equivalentTo"} xref: MESH:C537948 {source="Orphanet:79263", source="Orphanet:79263/e"} xref: NORD:1689 {source="MONDO:NORD"} xref: Orphanet:79263 {source="MONDO:equivalentTo"} @@ -411709,6 +414722,7 @@ synonym: "Spielmeyer-Vogt disease" EXACT [Orphanet:79264] xref: DOID:0050756 {source="MONDO:equivalentObsolete"} xref: GARD:4938 {source="Orphanet:79264"} xref: ICD10CM:E75.4 {source="Orphanet:79264/attributed", source="Orphanet:79264/ntbt", source="Orphanet:79264"} +xref: icd11.foundation:1716107919 {source="MONDO:equivalentTo"} xref: MedDRA:10052073 {source="Orphanet:79264/e", source="Orphanet:79264"} xref: Orphanet:79264 {source="MONDO:equivalentTo"} xref: SCTID:61663001 {source="MONDO:equivalentTo"} @@ -411752,6 +414766,7 @@ synonym: "Schindler disease type 3" EXACT [Orphanet:79281] xref: DOID:0112320 {source="MONDO:equivalentTo"} xref: GARD:3903 {source="Orphanet:79281"} xref: ICD10CM:E77.1 {source="Orphanet:79281/attributed", source="Orphanet:79281/ntbt", source="Orphanet:79281"} +xref: icd11.foundation:1639349183 {source="MONDO:equivalentTo"} xref: Orphanet:79281 {source="MONDO:equivalentTo"} xref: UMLS:C5437471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017779 {source="Orphanet:79281"} ! alpha-N-acetylgalactosaminidase deficiency @@ -411793,6 +414808,7 @@ xref: DOID:13677 {source="EFO:1001164", source="MONDO:equivalentTo"} xref: EFO:1001164 {source="MONDO:equivalentTo"} xref: GARD:7606 {source="Orphanet:793"} xref: ICD10CM:M86.3 {source="Orphanet:793/ntbt", source="Orphanet:793"} +xref: icd11.foundation:1901494067 {source="MONDO:equivalentTo"} xref: icd11.foundation:1901494067 {source="MONDO:equivalentTo", source="Orphanet:793"} xref: ICD9:706.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10051316 {source="Orphanet:793/e", source="EFO:1001164", source="Orphanet:793"} @@ -412045,6 +415061,7 @@ xref: HP:0000998 {source="MONDO:otherHierarchy"} xref: ICD10CM:L68 {source="DOID:420"} xref: ICD10CM:L68.3 {source="DOID:420"} xref: ICD10CM:L68.9 {source="DOID:420"} +xref: icd11.foundation:2042627850 {source="MONDO:equivalentTo"} xref: MedDRA:10020864 {source="Orphanet:79365/e", source="Orphanet:79365"} xref: MESH:D006983 {source="Orphanet:79365/e", source="MONDO:equivalentTo", source="DOID:420", source="Orphanet:79365"} xref: NCIT:C79597 {source="MONDO:otherHierarchy", source="DOID:420"} @@ -412534,6 +415551,7 @@ xref: DOID:1699 {source="MONDO:equivalentObsolete"} xref: GARD:9736 {source="Orphanet:79394"} xref: HP:0007431 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q80.2 {source="DOID:1699", source="Orphanet:79394", source="Orphanet:79394/attributed", source="Orphanet:79394/ntbt"} +xref: icd11.foundation:546439698 {source="MONDO:equivalentTo"} xref: MESH:D016113 {source="DOID:1699"} xref: MESH:D017490 {source="MONDO:relatedTo", source="DOID:1699"} xref: NCIT:C84805 {source="MONDO:relatedTo", source="DOID:1699"} @@ -412600,6 +415618,7 @@ synonym: "inverse JEB" EXACT [Orphanet:79405] synonym: "JEB-I" EXACT [Orphanet:79405] xref: GARD:2143 {source="Orphanet:79405"} xref: ICD10CM:Q81.8 {source="Orphanet:79405", source="Orphanet:79405/attributed", source="Orphanet:79405/ntbt"} +xref: icd11.foundation:1191822552 {source="MONDO:equivalentTo"} xref: Orphanet:79405 {source="MONDO:equivalentTo"} xref: UMLS:C2673609 {source="Orphanet:79405", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017612 {source="Orphanet:79405"} ! junctional epidermolysis bullosa @@ -412638,6 +415657,7 @@ synonym: "inverse recessive dystrophic epidermolysis bullosa" EXACT [Orphanet:79 synonym: "RDEB-I" EXACT [Orphanet:79409] xref: GARD:16720 {source="Orphanet:79409"} xref: ICD10CM:Q81.2 {source="Orphanet:79409", source="Orphanet:79409/attributed", source="Orphanet:79409/ntbt"} +xref: icd11.foundation:495465277 {source="MONDO:equivalentTo"} xref: Orphanet:79409 {source="MONDO:equivalentTo"} is_a: MONDO:0009179 {source="https://orcid.org/0000-0001-5208-3432"} ! recessive dystrophic epidermolysis bullosa @@ -412675,6 +415695,7 @@ xref: DOID:3753 {source="MONDO:equivalentTo"} xref: GARD:6643 {source="Orphanet:79430"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:79430/inclusion", source="Orphanet:79430", source="Orphanet:79430/ntbt"} xref: ICD10CM:E70.331 {source="DOID:3753", source="MONDO:equivalentTo"} +xref: icd11.foundation:2089801290 {source="MONDO:equivalentTo"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10071775 {source="Orphanet:79430/e", source="Orphanet:79430"} xref: MESH:D022861 {source="DOID:3753", source="MONDO:equivalentTo"} @@ -412740,6 +415761,7 @@ synonym: "multiple mastocytoma" EXACT [Orphanet:79455] synonym: "solitary mastocytoma" EXACT [Orphanet:79455] xref: GARD:12687 {source="Orphanet:79455"} xref: ICD10CM:Q82.2 {source="Orphanet:79455/ntbt", source="Orphanet:79455"} +xref: icd11.foundation:1853236564 {source="MONDO:equivalentTo"} xref: MESH:D054705 {source="MONDO:relatedTo", source="Orphanet:79455/e", source="Orphanet:79455"} xref: Orphanet:79455 {source="MONDO:equivalentTo"} xref: UMLS:C0343115 {source="Orphanet:79455/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79455"} @@ -412760,6 +415782,8 @@ synonym: "diffuse cutaneous mastocytosis" EXACT [DOID:3665, MONDO:0002725, NCIT: xref: DOID:3665 {source="MONDO:equivalentTo"} xref: GARD:12686 {source="Orphanet:79456"} xref: ICD10CM:Q82.2 {source="Orphanet:79456/ntbt", source="Orphanet:79456"} +xref: icd11.foundation:1817957388 {source="MONDO:equivalentTo"} +xref: icd11.foundation:193128939 {source="MONDO:equivalentTo"} xref: ICDO:9740/1 {source="NCIT:C3218"} xref: MedDRA:10012812 {source="Orphanet:79456/e", source="Orphanet:79456"} xref: MESH:D034701 {source="DOID:3665"} @@ -412874,6 +415898,7 @@ subset: rare synonym: "atypical progeroid syndrome" EXACT [Orphanet:79474] xref: GARD:11910 {source="Orphanet:79474"} xref: ICD10CM:E34.8 {source="Orphanet:79474", source="Orphanet:79474/attributed", source="Orphanet:79474/ntbt"} +xref: icd11.foundation:1661142154 {source="MONDO:equivalentTo"} xref: Orphanet:79474 {source="MONDO:equivalentTo"} xref: SCTID:715633008 {source="MONDO:equivalentTo"} xref: UMLS:C4275075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -412895,6 +415920,7 @@ subset: rare xref: EFO:0008613 {source="MONDO:equivalentTo"} xref: GARD:19021 {source="Orphanet:79479"} xref: ICD10CM:L10.1 {source="Orphanet:79479", source="MONDO:equivalentTo", source="Orphanet:79479/e"} +xref: icd11.foundation:1977394957 {source="MONDO:equivalentTo"} xref: MedDRA:10057053 {source="Orphanet:79479", source="Orphanet:79479/e"} xref: Orphanet:79479 {source="MONDO:equivalentTo"} xref: SCTID:81285006 {source="MONDO:equivalentTo"} @@ -412916,6 +415942,7 @@ synonym: "Senear-Usher syndrome" EXACT [Orphanet:79480] xref: EFO:0008603 {source="MONDO:equivalentTo"} xref: GARD:19022 {source="Orphanet:79480"} xref: ICD10CM:L10.4 {source="MONDO:equivalentTo", source="Orphanet:79480", source="Orphanet:79480/ntbt"} +xref: icd11.foundation:399813106 {source="MONDO:equivalentTo"} xref: MedDRA:10058917 {source="Orphanet:79480", source="Orphanet:79480/e"} xref: Orphanet:79480 {source="MONDO:equivalentTo"} xref: SCTID:36739006 {source="MONDO:equivalentTo"} @@ -412944,6 +415971,7 @@ xref: GARD:7354 {source="Orphanet:79481"} xref: HGNC:3050 {source="GARD:0007354"} xref: ICD10CM:L10.2 {source="Orphanet:79481", source="Orphanet:79481/ntbt"} xref: icd11.foundation:24246260 {source="MONDO:equivalentTo", source="Orphanet:79481"} +xref: icd11.foundation:24246260 {source="MONDO:equivalentTo"} xref: MedDRA:10057069 {source="Orphanet:79481", source="Orphanet:79481/e"} xref: Orphanet:79481 {source="MONDO:equivalentTo"} xref: SCTID:35154004 {source="MONDO:equivalentTo"} @@ -413004,6 +416032,7 @@ subset: rare synonym: "phakomatosis pigmentovascularis type 3" EXACT [Orphanet:79485] xref: GARD:19025 {source="Orphanet:79485"} xref: ICD10CM:Q85.8 {source="Orphanet:79485", source="Orphanet:79485/attributed", source="Orphanet:79485/ntbt"} +xref: icd11.foundation:1064958823 {source="MONDO:equivalentTo"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:79485 {source="MONDO:equivalentTo"} xref: SCTID:703285005 {source="MONDO:equivalentTo"} @@ -413024,6 +416053,7 @@ synonym: "cavernous lymphatic malformation" EXACT [Orphanet:79489] synonym: "macrocystic lymphangioma" EXACT [Orphanet:79489] xref: GARD:6010 {source="Orphanet:79489"} xref: ICD10CM:D18.1 {source="Orphanet:79489/ntbt", source="Orphanet:79489"} +xref: icd11.foundation:1525487462 {source="MONDO:equivalentTo"} xref: icd11.foundation:1525487462 {source="MONDO:equivalentTo", source="Orphanet:79489"} xref: NCIT:C53316 {source="MONDO:equivalentTo"} xref: Orphanet:79489 {source="MONDO:equivalentTo"} @@ -413051,6 +416081,7 @@ synonym: "superficial lymphatic malformation" EXACT [Orphanet:79490] xref: GARD:13020 {source="Orphanet:79490"} xref: ICD10CM:D18.1 {source="Orphanet:79490/ntbt", source="Orphanet:79490"} xref: icd11.foundation:1796778763 {source="Orphanet:79490", source="MONDO:equivalentTo"} +xref: icd11.foundation:1796778763 {source="MONDO:equivalentTo"} xref: Orphanet:79490 {source="MONDO:equivalentTo"} is_a: MONDO:0002013 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-3458-4839"} ! lymphangioma is_a: MONDO:0005833 {source="PMID:31932019", source="https://orcid.org/0000-0001-7941-2961"} ! lymphatic system disorder @@ -413176,6 +416207,7 @@ synonym: "polyposis coli and multiple hard and soft tissue tumors" RELATED [GARD synonym: "polyposis coli and multiple hard and soft tissue tumours" RELATED OMO:0003005 [] xref: GARD:6482 {source="Orphanet:79665"} xref: ICD10CM:D12.6 {source="Orphanet:79665/attributed", source="Orphanet:79665/ntbt", source="Orphanet:79665"} +xref: icd11.foundation:1428130769 {source="MONDO:equivalentTo"} xref: icd11.foundation:1428130769 {source="MONDO:equivalentTo", source="Orphanet:79665"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10017727 {source="Orphanet:79665/e", source="Orphanet:79665"} @@ -413249,6 +416281,7 @@ xref: ICD10CM:D86.2 {source="Orphanet:797", source="Orphanet:797/btnt"} xref: ICD10CM:D86.3 {source="Orphanet:797", source="Orphanet:797/btnt"} xref: ICD10CM:D86.8 {source="Orphanet:797", source="Orphanet:797/btnt"} xref: ICD10CM:D86.9 {source="Orphanet:797", source="DOID:11335", source="Orphanet:797/btnt"} +xref: icd11.foundation:330792642 {source="MONDO:equivalentTo"} xref: ICD9:135 {source="DOID:11335"} xref: MedDRA:10039486 {source="Orphanet:797", source="Orphanet:797/e"} xref: MESH:D012507 {source="Orphanet:797", source="DOID:11335", source="MONDO:equivalentTo", source="Orphanet:797/e"} @@ -413370,6 +416403,7 @@ synonym: "Virchow-Seckel dwarfism" EXACT [DOID:0050569] xref: DOID:0050569 {source="MONDO:equivalentTo"} xref: GARD:8562 {source="Orphanet:808"} xref: ICD10CM:Q87.1 {source="Orphanet:808/inclusion", source="Orphanet:808/ntbt", source="DOID:0050569", source="Orphanet:808"} +xref: icd11.foundation:952199295 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537533 {source="Orphanet:808/e", source="Orphanet:808"} xref: NCIT:C125488 {source="MONDO:equivalentTo"} @@ -413404,6 +416438,7 @@ xref: DOID:0080744 {source="MONDO:equivalentTo"} xref: EFO:1001982 {source="MONDO:equivalentTo"} xref: GARD:735 {source="Orphanet:81"} xref: ICD10CM:M35.8 {source="Orphanet:81", source="Orphanet:81/ntbt"} +xref: icd11.foundation:1572057936 {source="MONDO:equivalentTo"} xref: ICD9:279.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10068801 {source="Orphanet:81/e", source="Orphanet:81"} xref: MESH:C537778 {source="Orphanet:81/e", source="MONDO:equivalentTo", source="Orphanet:81"} @@ -413501,6 +416536,7 @@ synonym: "normosomatic sialidosis" EXACT [] synonym: "sialidosis type I" RELATED [GARD:0007639] xref: GARD:7639 {source="Orphanet:812"} xref: ICD10CM:E77.1 {source="Orphanet:812/attributed", source="Orphanet:812/ntbt", source="Orphanet:812"} +xref: icd11.foundation:1154773192 {source="MONDO:equivalentTo"} xref: OMIM:256550 {source="Orphanet:812/ntbt", source="Orphanet:812", source="MONDO:includedEntryInOMIM"} xref: Orphanet:812 {source="MONDO:equivalentTo"} xref: SCTID:34960006 {source="MONDO:equivalentTo"} @@ -413591,6 +416627,7 @@ xref: DOID:14748 {source="MONDO:equivalentTo"} xref: GARD:10091 {source="Orphanet:821"} xref: GARD:15048 {source="OMIM:117550"} xref: ICD10CM:Q87.3 {source="Orphanet:821/inclusion", source="DOID:14748", source="Orphanet:821", source="Orphanet:821/ntbt"} +xref: icd11.foundation:1887392960 {source="MONDO:equivalentTo"} xref: MedDRA:10064387 {source="Orphanet:821", source="Orphanet:821/e"} xref: MESH:D058495 {source="DOID:14748", source="Orphanet:821", source="MONDO:equivalentTo", source="Orphanet:821/e"} xref: NCIT:C75019 {source="DOID:14748", source="MONDO:equivalentTo"} @@ -413636,6 +416673,7 @@ synonym: "spherocytic anemia" EXACT [DOID:12971] xref: DOID:12971 {source="MONDO:equivalentTo"} xref: GARD:6639 {source="Orphanet:822"} xref: ICD10CM:D58.0 {source="Orphanet:822", source="MONDO:equivalentTo", source="Orphanet:822/specific", source="Orphanet:822/e", source="DOID:12971"} +xref: icd11.foundation:1305248013 {source="MONDO:equivalentTo"} xref: ICD9:282.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12971"} xref: MedDRA:10019904 {source="Orphanet:822", source="Orphanet:822/e"} xref: MESH:C536356 {source="Orphanet:822", source="Orphanet:822/e"} @@ -413709,6 +416747,7 @@ synonym: "Stargardt macular dystrophy" RELATED [GARD:0000181] xref: DOID:0050817 {source="MONDO:equivalentTo"} xref: GARD:181 {source="Orphanet:827"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:827/inclusion", source="Orphanet:827", source="Orphanet:827/ntbt"} +xref: icd11.foundation:1690038580 {source="MONDO:equivalentTo"} xref: MedDRA:10062766 {source="Orphanet:827", source="Orphanet:827/e"} xref: MESH:D000080362 {source="MONDO:equivalentTo"} xref: NCIT:C85078 {source="MONDO:equivalentTo"} @@ -413735,6 +416774,7 @@ synonym: "Stickler syndrome" EXACT CLINGEN_LABEL [] xref: DOID:0080046 {source="MONDO:equivalentTo"} xref: GARD:10782 {source="Orphanet:828"} xref: ICD10CM:Q87.0 {source="Orphanet:828/attributed", source="Orphanet:828/ntbt", source="Orphanet:828"} +xref: icd11.foundation:246271691 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10063402 {source="Orphanet:828/e", source="Orphanet:828"} xref: MESH:C537492 {source="Orphanet:828/e", source="Orphanet:828"} @@ -413772,6 +416812,7 @@ xref: DOID:14256 {source="MONDO:equivalentTo", source="EFO:0007135"} xref: EFO:0007135 {source="MONDO:equivalentTo"} xref: GARD:436 {source="Orphanet:829"} xref: ICD10CM:M06.1 {source="Orphanet:829/e", source="DOID:14256", source="Orphanet:829"} +xref: icd11.foundation:549009522 {source="MONDO:equivalentTo"} xref: icd11.foundation:549009522 {source="MONDO:equivalentTo", source="Orphanet:829"} xref: ICD9:714.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -413839,6 +416880,7 @@ subset: orphanet_rare {source="Orphanet:833"} subset: rare xref: GARD:16549 {source="Orphanet:833"} xref: ICD10CM:E72.1 {source="Orphanet:833/inclusion", source="Orphanet:833/ntbt", source="Orphanet:833"} +xref: icd11.foundation:681037681 {source="MONDO:equivalentTo"} xref: Orphanet:833 {source="MONDO:equivalentTo"} xref: SCTID:715980003 {source="MONDO:equivalentTo"} xref: UMLS:C4275019 {source="MONDO:equivalentTo"} @@ -413899,6 +416941,7 @@ xref: DOID:11103 {source="MONDO:equivalentTo"} xref: GARD:19030 {source="Orphanet:83312"} xref: ICD10CM:A79.1 {source="Orphanet:83312", source="Orphanet:83312/e", source="DOID:11103"} xref: icd11.foundation:1005140361 {source="Orphanet:83312", source="MONDO:equivalentTo"} +xref: icd11.foundation:1005140361 {source="MONDO:equivalentTo"} xref: ICD9:083.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11103"} xref: MedDRA:10039137 {source="Orphanet:83312", source="Orphanet:83312/e"} xref: MESH:D012288 {source="MONDO:relatedTo", source="DOID:11103"} @@ -414028,6 +417071,7 @@ subset: rare synonym: "free sialic acid storage disease" EXACT CLINGEN_LABEL [] xref: GARD:10870 {source="Orphanet:834"} xref: ICD10CM:E77.8 {source="Orphanet:834/attributed", source="Orphanet:834/ntbt", source="Orphanet:834"} +xref: icd11.foundation:1817428569 {source="MONDO:equivalentTo"} xref: MedDRA:10067529 {source="Orphanet:834", source="Orphanet:834/e"} xref: MedDRA:10067531 {source="Orphanet:834", source="Orphanet:834/e"} xref: MESH:C538523 {source="Orphanet:834", source="MONDO:equivalentTo", source="Orphanet:834/e"} @@ -414048,6 +417092,7 @@ subset: rare synonym: "ghost teeth" EXACT [Orphanet:83450] xref: GARD:19036 {source="Orphanet:83450"} xref: ICD10CM:K00.4 {source="Orphanet:83450", source="Orphanet:83450/ntbt"} +xref: icd11.foundation:1516505714 {source="MONDO:equivalentTo"} xref: MESH:D018126 {source="MONDO:equivalentTo"} xref: Orphanet:83450 {source="MONDO:equivalentTo"} xref: SCTID:66063001 {source="MONDO:equivalentTo"} @@ -414068,6 +417113,7 @@ synonym: "Gigantiform cementoma" RELATED [GARD:0010173] xref: GARD:10173 {source="Orphanet:83451"} xref: ICD10CM:D16.4 {source="Orphanet:83451", source="Orphanet:83451/ntbt"} xref: ICD10CM:D16.5 {source="Orphanet:83451", source="MONDO:relatedTo", source="Orphanet:83451/ntbt"} +xref: icd11.foundation:2031259585 {source="MONDO:equivalentTo"} xref: ICDO:9275/0 {source="NCIT:C8381"} xref: MESH:C537063 {source="Orphanet:83451", source="MONDO:equivalentTo", source="Orphanet:83451/e"} xref: NCIT:C8381 {source="MONDO:equivalentTo"} @@ -414094,6 +417140,7 @@ xref: GARD:4647 {source="Orphanet:83452"} xref: ICD10CM:G56.4 {source="Orphanet:83452/btnt", source="Orphanet:83452"} xref: ICD10CM:M89.0 {source="Orphanet:83452/btnt", source="Orphanet:83452"} xref: icd11.foundation:1834504950 {source="Orphanet:83452", source="MONDO:equivalentTo"} +xref: icd11.foundation:1834504950 {source="MONDO:equivalentTo"} xref: MedDRA:10064332 {source="Orphanet:83452", source="Orphanet:83452/e"} xref: MESH:D020918 {source="DOID:3223", source="Orphanet:83452", source="MONDO:equivalentTo", source="Orphanet:83452/e"} xref: NORD:1652 {source="MONDO:NORD"} @@ -414112,6 +417159,7 @@ subset: orphanet_rare {source="Orphanet:83453"} subset: rare xref: GARD:19037 {source="Orphanet:83453"} xref: ICD10CM:L43.8 {source="Orphanet:83453", source="Orphanet:83453/ntbt"} +xref: icd11.foundation:997964040 {source="MONDO:equivalentTo"} xref: Orphanet:83453 {source="MONDO:equivalentTo"} xref: SCTID:707250009 {source="MONDO:equivalentTo"} xref: UMLS:C3873472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -414162,6 +417210,7 @@ synonym: "unicameral bone cyst" EXACT [Orphanet:83468] xref: GARD:19039 {source="Orphanet:83468"} xref: ICD10CM:M85.4 {source="MONDO:equivalentTo", source="Orphanet:83468", source="Orphanet:83468/e"} xref: icd11.foundation:987501456 {source="MONDO:equivalentTo", source="Orphanet:83468"} +xref: icd11.foundation:987501456 {source="MONDO:equivalentTo"} xref: ICD9:733.21 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D001845 {source="MONDO:equivalentTo"} xref: NCIT:C2904 {source="MONDO:equivalentTo"} @@ -414329,6 +417378,7 @@ synonym: "Neuroinvasive California encephalitis virus infection" EXACT [DOID:005 xref: DOID:0050118 {source="MONDO:equivalentTo"} xref: GARD:10925 {source="Orphanet:83483"} xref: ICD10CM:A83.5 {source="Orphanet:83483", source="Orphanet:83483/ntbt", source="DOID:0050118"} +xref: icd11.foundation:1501615629 {source="MONDO:equivalentTo"} xref: ICD9:062.5 {source="DOID:0050118"} xref: MedDRA:10014584 {source="Orphanet:83483", source="Orphanet:83483/e"} xref: MESH:D004670 {source="Orphanet:83483", source="MONDO:equivalentTo", source="Orphanet:83483/e", source="DOID:0050118"} @@ -414372,6 +417422,7 @@ xref: EFO:0007546 {source="MONDO:equivalentTo"} xref: GARD:7888 {source="Orphanet:83593"} xref: ICD10CM:A83.1 {source="Orphanet:83593", source="DOID:10843", source="Orphanet:83593/ntbt", source="MONDO:equivalentTo"} xref: icd11.foundation:1543765035 {source="Orphanet:83593", source="MONDO:equivalentTo"} +xref: icd11.foundation:1543765035 {source="MONDO:equivalentTo"} xref: ICD9:062.1 {source="DOID:10843", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10014614 {source="Orphanet:83593", source="Orphanet:83593/e"} xref: MESH:D020241 {source="DOID:10843", source="EFO:0007546", source="MONDO:equivalentTo"} @@ -414417,6 +417468,7 @@ xref: DOID:639 {source="MONDO:equivalentTo", source="EFO:0007130"} xref: EFO:0007130 {source="MONDO:equivalentTo"} xref: GARD:8639 {source="Orphanet:83597"} xref: ICD10CM:G04.0 {source="Orphanet:83597/ntbt", source="Orphanet:83597"} +xref: icd11.foundation:1390433308 {source="MONDO:equivalentTo"} xref: icd11.foundation:1390433308 {source="Orphanet:83597", source="MONDO:equivalentTo"} xref: ICD9:136.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D004673 {source="DOID:639", source="MONDO:equivalentTo", source="EFO:0007130"} @@ -414452,6 +417504,7 @@ synonym: "Von Economo’s disease" RELATED [GARD:0006332] xref: DOID:5225 {source="MONDO:equivalentTo"} xref: GARD:6332 {source="Orphanet:83600"} xref: ICD10CM:A85.8 {source="DOID:5225", source="Orphanet:83600", source="Orphanet:83600/ntbt"} +xref: icd11.foundation:1777779617 {source="MONDO:equivalentTo"} xref: ICD9:049.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10052369 {source="Orphanet:83600", source="Orphanet:83600/e"} xref: NCIT:C26761 {source="DOID:5225", source="MONDO:equivalentTo"} @@ -414549,6 +417602,7 @@ synonym: "SACRAL syndrome" EXACT [Orphanet:83628] synonym: "urorectal septum malformation sequence" EXACT [Orphanet:83628] xref: GARD:19045 {source="Orphanet:83628"} xref: ICD10CM:Q87.8 {source="Orphanet:83628/attributed", source="Orphanet:83628/ntbt", source="Orphanet:83628"} +xref: icd11.foundation:1311821224 {source="MONDO:equivalentTo"} xref: Orphanet:83628 {source="MONDO:equivalentTo"} xref: SCTID:725138002 {source="MONDO:equivalentTo"} xref: UMLS:C4510867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -414587,6 +417641,7 @@ synonym: "small infarctions of cochlear, retinal and encephalic tissue" EXACT [O xref: EFO:1001856 {source="MONDO:equivalentTo"} xref: GARD:7713 {source="Orphanet:838"} xref: ICD10CM:I67.7 {source="Orphanet:838", source="Orphanet:838/ntbt"} +xref: icd11.foundation:1292480458 {source="MONDO:equivalentTo"} xref: ICD9:348.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10071573 {source="Orphanet:838", source="Orphanet:838/e"} xref: MESH:D055955 {source="MONDO:equivalentTo", source="Orphanet:838", source="Orphanet:838/e"} @@ -414668,6 +417723,8 @@ xref: DOID:5445 {source="MONDO:equivalentTo"} xref: EFO:1000558 {source="MONDO:equivalentTo"} xref: GARD:5100 {source="Orphanet:840"} xref: ICD10CM:D23.9 {source="Orphanet:840", source="Orphanet:840/ntbt"} +xref: icd11.foundation:530424877 {source="MONDO:equivalentTo"} +xref: icd11.foundation:841587700 {source="MONDO:equivalentTo"} xref: ICDO:8406/0 {source="NCIT:C4172"} xref: MedDRA:10042926 {source="Orphanet:840", source="Orphanet:840/e"} xref: NCIT:C4172 {source="DOID:5445", source="MONDO:equivalentTo", source="EFO:1000558"} @@ -414779,6 +417836,7 @@ subset: rare synonym: "early-onset desmin-related myopathy" EXACT [Orphanet:84132] xref: GARD:16732 {source="Orphanet:84132"} xref: ICD10CM:G71.8 {source="Orphanet:84132", source="Orphanet:84132/attributed", source="Orphanet:84132/ntbt"} +xref: icd11.foundation:998522839 {source="MONDO:equivalentTo"} xref: Orphanet:84132 {source="MONDO:equivalentTo"} is_a: MONDO:0011271 ! rigid spine muscular dystrophy 1 is_a: MONDO:0016112 {source="Orphanet:84132"} ! hereditary inclusion-body myopathy @@ -414920,6 +417978,7 @@ synonym: "soft tissue perineurioma" RELATED [DOID:4697, NCIT:C6912] xref: DOID:4697 {source="MONDO:equivalentTo"} xref: GARD:12698 {source="Orphanet:85102"} xref: ICD10CM:C47.9 {source="Orphanet:85102/ntbt", source="Orphanet:85102"} +xref: icd11.foundation:456459236 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9571/0 {source="NCIT:C4973"} xref: MESH:D018317 {source="DOID:4697"} @@ -414983,6 +418042,7 @@ synonym: "SWILS" EXACT ABBREVIATION [DOID:0111673, OMIM:618150] xref: DOID:0111673 {source="MONDO:equivalentTo"} xref: GARD:16736 {source="Orphanet:85172"} xref: ICD10CM:Q78.8 {source="Orphanet:85172", source="Orphanet:85172/attributed", source="Orphanet:85172/ntbt"} +xref: icd11.foundation:738688839 {source="MONDO:equivalentTo"} xref: OMIM:618150 {source="MONDO:equivalentTo", source="DOID:0111673"} xref: Orphanet:85172 {source="MONDO:equivalentTo", source="DOID:0111673"} xref: UMLS:C1300285 {source="DOID:0111673"} @@ -415004,6 +418064,7 @@ synonym: "Astley-Kendall syndrome" RELATED [GARD:0009220] synonym: "short limbed dwarfism with extensive stippling" RELATED [GARD:0009220] xref: GARD:19050 {source="Orphanet:85175"} xref: ICD10CM:Q77.3 {source="Orphanet:85175/attributed", source="Orphanet:85175/ntbt", source="Orphanet:85175"} +xref: icd11.foundation:1367227076 {source="MONDO:equivalentTo"} xref: MESH:C535392 {source="MONDO:equivalentTo"} xref: Orphanet:85175 {source="MONDO:equivalentTo"} xref: SCTID:389263004 {source="MONDO:equivalentTo"} @@ -415029,6 +418090,7 @@ synonym: "Pediatric osteoporosis" EXACT [NCIT:C119996] xref: DOID:12559 {source="MONDO:equivalentTo"} xref: GARD:15218 {source="OMIM:259750"} xref: GARD:6760 {source="Orphanet:85193"} +xref: icd11.foundation:183642011 {source="MONDO:equivalentTo"} xref: ICD9:733.02 {source="DOID:12559", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:C537700 {source="MONDO:equivalentTo"} xref: NCIT:C119996 {source="MONDO:equivalentTo"} @@ -415068,6 +418130,7 @@ subset: orphanet_rare {source="Orphanet:85197"} subset: rare xref: GARD:16741 {source="Orphanet:85197"} xref: ICD10CM:Q78.4 {source="Orphanet:85197/attributed", source="Orphanet:85197/ntbt", source="Orphanet:85197"} +xref: icd11.foundation:521879469 {source="MONDO:equivalentTo"} xref: Orphanet:85197 {source="MONDO:equivalentTo"} xref: UMLS:C1300229 {source="Orphanet:85197/e", source="Orphanet:85197"} is_a: MONDO:0007653 {source="https://orcid.org/0000-0001-5208-3432"} ! genochondromatosis @@ -415084,6 +418147,7 @@ subset: orphanet_rare {source="Orphanet:85198"} subset: rare xref: GARD:19051 {source="Orphanet:85198"} xref: ICD10CM:Q78.4 {source="Orphanet:85198/attributed", source="Orphanet:85198/ntbt", source="Orphanet:85198"} +xref: icd11.foundation:942697844 {source="MONDO:equivalentTo"} xref: Orphanet:85198 {source="MONDO:equivalentTo"} xref: SCTID:722434004 {source="MONDO:equivalentTo"} xref: UMLS:C4302548 {source="MONDO:equivalentTo"} @@ -415103,6 +418167,7 @@ synonym: "ischio-spinal dysostosis" EXACT [Orphanet:85200] synonym: "ischio-vertebral dysplasia" EXACT [Orphanet:85200] xref: GARD:19052 {source="Orphanet:85200"} xref: ICD10CM:Q77.8 {source="Orphanet:85200", source="Orphanet:85200/attributed", source="Orphanet:85200/ntbt"} +xref: icd11.foundation:185911418 {source="MONDO:equivalentTo"} xref: Orphanet:85200 {source="MONDO:equivalentTo"} xref: SCTID:715654001 {source="MONDO:equivalentTo"} xref: UMLS:C4274732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -415579,6 +418644,7 @@ synonym: "systemic AL amyloidsis" RELATED [GARD:0005797] xref: DOID:0080933 {source="MONDO:equivalentTo"} xref: GARD:5797 {source="Orphanet:85443"} xref: ICD10CM:E85.9 {source="Orphanet:85443/ntbt", source="Orphanet:85443", source="Orphanet:85443/index"} +xref: icd11.foundation:1061366491 {source="MONDO:equivalentTo"} xref: icd11.foundation:113043090 {source="Orphanet:85443", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} xref: MedDRA:10036673 {source="Orphanet:85443", source="Orphanet:85443/e"} xref: MESH:C531616 {source="Orphanet:85443", source="MONDO:equivalentTo", source="Orphanet:85443/e"} @@ -415609,6 +418675,7 @@ synonym: "secondary amyloidosis" EXACT [Orphanet:85445] xref: DOID:0080936 {source="MONDO:equivalentTo"} xref: GARD:10560 {source="Orphanet:85445"} xref: ICD10CM:E85.3 {source="Orphanet:85445", source="Orphanet:85445/e"} +xref: icd11.foundation:570181034 {source="MONDO:equivalentTo"} xref: icd11.foundation:570181034 {source="Orphanet:85445", source="MONDO:equivalentTo"} xref: ICD9:277.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10039811 {source="Orphanet:85445", source="Orphanet:85445/e"} @@ -415641,6 +418708,7 @@ synonym: "DRA" RELATED ABBREVIATION [GARD:0010563] synonym: "wild type ABeta2-microglobulinic amyloidosis" EXACT [Orphanet:85446] xref: GARD:19065 {source="Orphanet:85446"} xref: ICD10CM:E85.3 {source="Orphanet:85446/ntbt", source="Orphanet:85446"} +xref: icd11.foundation:499046814 {source="MONDO:equivalentTo"} xref: Orphanet:85446 {source="MONDO:equivalentTo"} xref: SCTID:32599008 {source="MONDO:equivalentTo"} xref: UMLS:C0268405 {source="GARD:0010563", source="MONDO:notFoundInDiseaseSubset"} @@ -415661,6 +418729,7 @@ synonym: "ATTRV122I-related amyloidosis" EXACT [Orphanet:85451] xref: GARD:16755 {source="Orphanet:85451"} xref: ICD10EXP:E85.4+ {source="Orphanet:85451/ntbt", source="Orphanet:85451/inclusion", source="Orphanet:85451"} xref: ICD10EXP:I43.1* {source="Orphanet:85451/ntbt", source="Orphanet:85451/inclusion", source="Orphanet:85451"} +xref: icd11.foundation:1449168185 {source="MONDO:equivalentTo"} xref: Orphanet:85451 {source="MONDO:equivalentTo"} xref: SCTID:715655000 {source="MONDO:equivalentTo"} is_a: MONDO:0007100 {source="Orphanet:85451"} ! familial amyloid neuropathy @@ -415752,6 +418821,7 @@ subset: ordo_disease {source="Orphanet:864"} subset: orphanet_rare {source="Orphanet:864"} subset: rare xref: GARD:5263 {source="Orphanet:864"} +xref: icd11.foundation:1448824325 {source="MONDO:equivalentTo"} xref: ICDO:8101/0 {source="NCIT:C4112"} xref: MedDRA:10044611 {source="Orphanet:864", source="Orphanet:864/e"} xref: MESH:C536553 {source="Orphanet:864", source="MONDO:equivalentTo", source="Orphanet:864/e"} @@ -415855,6 +418925,7 @@ subset: rare synonym: "LCH" EXACT ABBREVIATION [Orphanet:86823] xref: GARD:19068 {source="Orphanet:86823"} xref: ICD10CM:Q04.3 {source="Orphanet:86823", source="Orphanet:86823/attributed", source="Orphanet:86823/ntbt"} +xref: icd11.foundation:649858830 {source="MONDO:equivalentTo"} xref: Orphanet:86823 {source="MONDO:equivalentTo"} xref: SCTID:715817007 {source="MONDO:equivalentTo"} xref: UMLS:C4274995 {source="MONDO:equivalentTo"} @@ -415910,6 +418981,7 @@ synonym: "unclassifiable chronic myeloproliferative disorder" EXACT [NCIT:C27350 synonym: "undifferentiated myeloproliferative disease" EXACT [Orphanet:86830] xref: GARD:16764 {source="Orphanet:86830"} xref: ICD10CM:D47.1 {source="Orphanet:86830", source="Orphanet:86830/ntbt"} +xref: icd11.foundation:1724907221 {source="MONDO:equivalentTo"} xref: ICDO:9975/3 {source="NCIT:C27350"} xref: NCIT:C27350 {source="MONDO:equivalentTo"} xref: Orphanet:86830 {source="MONDO:equivalentTo"} @@ -415931,6 +419003,7 @@ synonym: "RCMD" EXACT ABBREVIATION [NCIT:C8574] synonym: "refractory cytopenia with multilineage dysplasia" EXACT [NCIT:C8574] xref: GARD:19069 {source="Orphanet:86836"} xref: ICD10CM:D46.A {source="MONDO:equivalentTo"} +xref: icd11.foundation:338307922 {source="MONDO:equivalentTo"} xref: ICD9:238.72 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9985/3 {source="NCIT:C8574"} xref: MedDRA:10067959 {source="Orphanet:86836", source="Orphanet:86836/e"} @@ -415961,6 +419034,7 @@ synonym: "refractory Anemia with Excess blasts" EXACT [NCIT:C7506] xref: EFO:0003811 {source="MONDO:equivalentTo"} xref: GARD:19070 {source="Orphanet:86839"} xref: ICD10CM:D46.2 {source="Orphanet:86839/ntbt", source="Orphanet:86839"} +xref: icd11.foundation:251745498 {source="MONDO:equivalentTo"} xref: ICDO:9983/3 {source="NCIT:C7506"} xref: MedDRA:10038270 {source="Orphanet:86839/e", source="Orphanet:86839"} xref: MESH:D000754 {source="Orphanet:86839/e", source="MONDO:equivalentTo", source="Orphanet:86839"} @@ -415992,7 +419066,9 @@ synonym: "acute panmyelosis" EXACT [NCIT:C4344] synonym: "APMF" EXACT ABBREVIATION [NCIT:C4344, ONCOTREE:APMF] xref: GARD:11907 {source="Orphanet:86843"} xref: ICD10CM:C94.4 {source="Orphanet:86843", source="Orphanet:86843/e"} +xref: icd11.foundation:1831346835 {source="MONDO:equivalentTo"} xref: icd11.foundation:585339631 {source="Orphanet:86843", source="MONDO:equivalentTo"} +xref: icd11.foundation:585339631 {source="MONDO:equivalentTo"} xref: ICD9:289.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9931/3 {source="NCIT:C4344"} xref: MedDRA:10000879 {source="Orphanet:86843", source="Orphanet:86843/e"} @@ -416195,6 +419271,7 @@ xref: DOID:0050750 {source="MONDO:equivalentTo"} xref: EFO:1000550 {source="MONDO:equivalentTo"} xref: GARD:19072 {source="Orphanet:86854"} xref: ICD10CM:C83.0 {source="Orphanet:86854/ntbt", source="Orphanet:86854"} +xref: icd11.foundation:1002343712 {source="MONDO:equivalentTo"} xref: ICDO:9689/3 {source="NCIT:C4663"} xref: MedDRA:10062113 {source="Orphanet:86854", source="Orphanet:86854/e"} xref: NCIT:C4663 {source="EFO:1000550", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -416298,7 +419375,9 @@ synonym: "LYG" EXACT ABBREVIATION [ONCOTREE:LYG, Orphanet:86869] xref: DOID:0081307 {source="MONDO:equivalentTo"} xref: GARD:6943 {source="Orphanet:86869"} xref: ICD10CM:C83.8 {source="Orphanet:86869", source="Orphanet:86869/ntbt"} +xref: icd11.foundation:1513142469 {source="MONDO:equivalentTo"} xref: icd11.foundation:1890408959 {source="MONDO:equivalentTo", source="Orphanet:86869"} +xref: icd11.foundation:1890408959 {source="MONDO:equivalentTo"} xref: ICDO:9766/1 {source="NCIT:C7930"} xref: MedDRA:10025325 {source="Orphanet:86869", source="Orphanet:86869/e"} xref: MESH:D008230 {source="MONDO:equivalentTo", source="Orphanet:86869", source="Orphanet:86869/e"} @@ -416647,6 +419726,8 @@ xref: DOID:0081049 {source="MONDO:equivalentTo"} xref: GARD:19077 {source="Orphanet:86882"} xref: ICD10CM:C86.1 {source="Orphanet:86882", source="MONDO:equivalentTo", source="Orphanet:86882/e"} xref: icd11.foundation:1301206942 {source="Orphanet:86882", source="MONDO:equivalentTo"} +xref: icd11.foundation:1301206942 {source="MONDO:equivalentTo"} +xref: icd11.foundation:801204949 {source="MONDO:equivalentTo"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9716/3 {source="NCIT:C8459"} xref: MedDRA:10066957 {source="Orphanet:86882", source="Orphanet:86882/e"} @@ -416676,7 +419757,9 @@ synonym: "T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE" RELATED [OMIM:618398] xref: EFO:1000552 {source="MONDO:equivalentTo"} xref: GARD:10193 {source="Orphanet:86884"} xref: ICD10CM:C86.3 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1550338805 {source="MONDO:equivalentTo"} xref: icd11.foundation:1550338805 {source="Orphanet:86884", source="MONDO:equivalentTo"} +xref: icd11.foundation:1831955651 {source="MONDO:equivalentTo"} xref: ICD9:202.70 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9708/3 {source="NCIT:C6918"} xref: MESH:C537503 {source="Orphanet:86884", source="MONDO:equivalentTo", source="Orphanet:86884/e"} @@ -416754,6 +419837,8 @@ xref: DOID:0080915 {source="MONDO:equivalentTo"} xref: GARD:19080 {source="Orphanet:86896"} xref: ICD10CM:C96.8 {source="Orphanet:86896", source="Orphanet:86896/e"} xref: ICD10CM:C96.A {source="MONDO:equivalentTo"} +xref: icd11.foundation:1925254893 {source="MONDO:equivalentTo"} +xref: icd11.foundation:911785965 {source="MONDO:equivalentTo"} xref: icd11.foundation:911785965 {source="Orphanet:86896", source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9755/3 {source="NCIT:C27349"} @@ -416782,7 +419867,9 @@ xref: DOID:7146 {source="EFO:0007336", source="MONDO:equivalentTo"} xref: EFO:0007336 {source="MONDO:equivalentTo"} xref: GARD:10491 {source="Orphanet:86897"} xref: ICD10CM:C96.4 {source="Orphanet:86897/ntbt", source="Orphanet:86897", source="DOID:7146"} +xref: icd11.foundation:588958190 {source="MONDO:equivalentTo"} xref: icd11.foundation:588958190 {source="Orphanet:86897", source="MONDO:equivalentTo"} +xref: icd11.foundation:933337476 {source="MONDO:equivalentTo"} xref: ICDO:9756/3 {source="NCIT:C6921"} xref: MESH:D054752 {source="EFO:0007336", source="Orphanet:86897", source="MONDO:equivalentTo", source="Orphanet:86897/e", source="DOID:7146"} xref: NCIT:C6921 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7146"} @@ -416828,6 +419915,7 @@ synonym: "MTX-associated lymphoproliferative disorders" EXACT [Orphanet:86904] synonym: "MTX-LPD" EXACT [Orphanet:86904] xref: DOID:5821 {source="MONDO:equivalentTo"} xref: GARD:19083 {source="Orphanet:86904"} +xref: icd11.foundation:1520483526 {source="MONDO:equivalentTo"} xref: NCIT:C7184 {source="DOID:5821", source="MONDO:equivalentTo"} xref: Orphanet:86904 {source="MONDO:equivalentTo"} xref: UMLS:C1334749 {source="DOID:5821", source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="NCIT:C7184"} @@ -417123,6 +420211,7 @@ xref: DOID:0050266 {source="MONDO:equivalentTo"} xref: EFO:1001445 {source="MONDO:equivalentTo"} xref: GARD:393 {source="Orphanet:879"} xref: ICD10CM:B88.1 {source="Orphanet:879", source="Orphanet:879/e"} +xref: icd11.foundation:2076748409 {source="MONDO:equivalentTo"} xref: icd11.foundation:2076748409 {source="MONDO:equivalentTo", source="Orphanet:879"} xref: ICD9:134.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D058285 {source="MONDO:equivalentTo", source="Orphanet:879", source="Orphanet:879/e"} @@ -417177,6 +420266,7 @@ xref: ICD10CM:Q96.3 {source="Orphanet:881/specific", source="Orphanet:881/btnt", xref: ICD10CM:Q96.4 {source="Orphanet:881/specific", source="Orphanet:881/btnt", source="Orphanet:881"} xref: ICD10CM:Q96.8 {source="Orphanet:881/specific", source="Orphanet:881/btnt", source="Orphanet:881"} xref: ICD10CM:Q96.9 {source="Orphanet:881/specific", source="Orphanet:881/btnt", source="Orphanet:881", source="DOID:3491"} +xref: icd11.foundation:1987089698 {source="MONDO:equivalentTo"} xref: icd11.foundation:1987089698 {source="MONDO:equivalentTo", source="Orphanet:881"} xref: ICD9:758.7 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10045181 {source="Orphanet:881/e", source="Orphanet:881"} @@ -417245,6 +420335,7 @@ synonym: "Usher's syndrome" EXACT [GARD:0007843] xref: DOID:0050439 {source="MONDO:equivalentTo"} xref: GARD:7843 {source="Orphanet:886"} xref: ICD10CM:H35.5 {source="Orphanet:886/attributed", source="Orphanet:886/ntbt", source="MONDO:relatedTo", source="Orphanet:886"} +xref: icd11.foundation:1452641873 {source="MONDO:equivalentTo"} xref: icd11.foundation:1452641873 {source="Orphanet:886", source="MONDO:equivalentTo"} xref: MedDRA:10063396 {source="Orphanet:886", source="Orphanet:886/e"} xref: MESH:D052245 {source="Orphanet:886", source="MONDO:equivalentTo", source="Orphanet:886/e", source="DOID:0050439"} @@ -417316,6 +420407,7 @@ synonym: "FOXE3-related ocular disorder" RELATED EXCLUDE [GARD:0010025] xref: DOID:0060648 {source="MONDO:equivalentTo"} xref: GARD:10025 {source="Orphanet:88632"} xref: ICD10CM:Q13.8 {source="Orphanet:88632", source="Orphanet:88632/attributed", source="Orphanet:88632/ntbt"} +xref: icd11.foundation:1182282997 {source="MONDO:equivalentTo"} xref: icd11.foundation:943599144 {source="Orphanet:88632", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} xref: ICD9:743.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIMPS:107250 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} @@ -417347,6 +420439,7 @@ synonym: "Theodores superior limbic keratoconjunctivitis" RELATED [GARD:0010940] synonym: "Theodores syndrome" RELATED [GARD:0010940] xref: GARD:10940 {source="Orphanet:88633"} xref: ICD10CM:H16.2 {source="Orphanet:88633/ntbt", source="MONDO:relatedTo", source="Orphanet:88633"} +xref: icd11.foundation:1532846455 {source="MONDO:equivalentTo"} xref: ICD9:370.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:88633 {source="MONDO:equivalentTo"} xref: SCTID:231903005 {source="MONDO:equivalentTo"} @@ -417404,6 +420497,7 @@ xref: CSP:0828-0533 {source="DOID:2187"} xref: DOID:2187 {source="MONDO:equivalentTo"} xref: GARD:5791 {source="Orphanet:88661"} xref: ICD10CM:K00.5 {source="DOID:2187", source="Orphanet:88661/ntbt", source="Orphanet:88661/inclusion", source="Orphanet:88661"} +xref: icd11.foundation:1923123066 {source="MONDO:equivalentTo"} xref: icd11.foundation:1923123066 {source="MONDO:equivalentTo", source="Orphanet:88661"} xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D000567 {source="DOID:2187", source="Orphanet:88661/e", source="MONDO:equivalentTo", source="Orphanet:88661"} @@ -417434,6 +420528,7 @@ synonym: "VWS" EXACT ABBREVIATION [Orphanet:888] xref: DOID:0060239 {source="MONDO:equivalentTo"} xref: GARD:8414 {source="Orphanet:888"} xref: ICD10CM:Q38.0 {source="Orphanet:888/inclusion", source="Orphanet:888/ntbt", source="Orphanet:888", source="DOID:0060239"} +xref: icd11.foundation:133440037 {source="MONDO:equivalentTo"} xref: ICD9:744.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536528 {source="Orphanet:888", source="MONDO:equivalentTo", source="DOID:0060239", source="Orphanet:888/e"} xref: MESH:C563529 {source="DOID:0060239"} @@ -417545,6 +420640,7 @@ synonym: "veno-occlusive disease" RELATED [DOID:0080177] xref: DOID:0080177 {source="MONDO:equivalentTo"} xref: GARD:13004 {source="Orphanet:890"} xref: ICD10CM:K76.5 {source="Orphanet:890/e", source="DOID:0080177", source="MONDO:equivalentTo", source="Orphanet:890"} +xref: icd11.foundation:762044088 {source="MONDO:equivalentTo"} xref: icd11.foundation:762044088 {source="MONDO:equivalentTo", source="Orphanet:890"} xref: ICD9:453.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10047216 {source="Orphanet:890/e", source="Orphanet:890"} @@ -417624,6 +420720,7 @@ synonym: "WS type 2" RELATED [GARD:0005520] synonym: "WS2" EXACT ABBREVIATION [Orphanet:895] xref: GARD:5520 {source="Orphanet:895"} xref: ICD10CM:E70.3 {source="Orphanet:895", source="MONDO:relatedTo", source="Orphanet:895/attributed", source="Orphanet:895/ntbt"} +xref: icd11.foundation:746815303 {source="MONDO:equivalentTo"} xref: MESH:C536463 {source="Orphanet:895", source="MONDO:equivalentTo", source="Orphanet:895/e"} xref: NCIT:C75009 {source="MONDO:equivalentTo"} xref: Orphanet:895 {source="MONDO:equivalentTo"} @@ -417651,6 +420748,7 @@ synonym: "Waardenburg-Shah syndrome" EXACT [GARD:0005524, NCIT:C124842] synonym: "WS4" EXACT ABBREVIATION [Orphanet:897] xref: GARD:5524 {source="Orphanet:897"} xref: ICD10CM:Q87.8 {source="Orphanet:897/attributed", source="Orphanet:897/ntbt", source="Orphanet:897"} +xref: icd11.foundation:1420151003 {source="MONDO:equivalentTo"} xref: icd11.foundation:1420151003 {source="Orphanet:897", source="MONDO:equivalentTo"} xref: NCIT:C124842 {source="MONDO:equivalentTo"} xref: Orphanet:897 {source="GARD:0005524", source="MONDO:equivalentTo"} @@ -417764,6 +420862,7 @@ synonym: "Bartter syndrome type IV" EXACT [Orphanet:89938] synonym: "Bartter syndrome with sensorineural deafness" EXACT [GARD:0010508, Orphanet:89938] xref: GARD:10508 {source="Orphanet:89938"} xref: ICD10CM:E26.8 {source="Orphanet:89938", source="Orphanet:89938/attributed", source="Orphanet:89938/ntbt"} +xref: icd11.foundation:959024909 {source="MONDO:equivalentTo"} xref: Orphanet:89938 {source="MONDO:equivalentTo"} xref: SCTID:700112007 {source="MONDO:equivalentTo"} xref: UMLS:C3838860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -417787,6 +420886,7 @@ synonym: "tetra X" EXACT [Orphanet:9] synonym: "tetrasomy type X" EXACT [MONDORULE:1, Orphanet:9] xref: GARD:7754 {source="Orphanet:9"} xref: ICD10CM:Q97.1 {source="Orphanet:9/attributed", source="Orphanet:9/ntbt", source="Orphanet:9"} +xref: icd11.foundation:1181464236 {source="MONDO:equivalentTo"} xref: ICD9:758.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C536502 {source="Orphanet:9", source="MONDO:equivalentTo", source="Orphanet:9/e"} xref: Orphanet:9 {source="MONDO:equivalentTo"} @@ -417809,6 +420909,7 @@ subset: rare xref: DOID:0060567 {source="MONDO:equivalentTo"} xref: GARD:8653 {source="Orphanet:90000"} xref: ICD10CM:L95.1 {source="Orphanet:90000", source="DOID:0060567", source="MONDO:equivalentTo", source="Orphanet:90000/e"} +xref: icd11.foundation:754210950 {source="MONDO:equivalentTo"} xref: ICD9:695.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10056968 {source="Orphanet:90000", source="Orphanet:90000/e"} xref: MESH:C535509 {source="Orphanet:90000", source="DOID:0060567", source="MONDO:equivalentTo", source="Orphanet:90000/e"} @@ -418096,6 +421197,7 @@ synonym: "stress polycythemia" EXACT [DOID:2838, MONDO:0002439, NCIT:C27174, Orp xref: DOID:2838 {source="MONDO:equivalentTo"} xref: GARD:19104 {source="Orphanet:90041"} xref: ICD10CM:D75.1 {source="Orphanet:90041/ntbt", source="Orphanet:90041", source="DOID:2838"} +xref: icd11.foundation:533704171 {source="MONDO:equivalentTo"} xref: MedDRA:10042217 {source="Orphanet:90041", source="Orphanet:90041/e"} xref: MedDRA:10053885 {source="Orphanet:90041", source="Orphanet:90041/e"} xref: NCIT:C27174 {source="MONDO:equivalentTo", source="DOID:2838"} @@ -418202,6 +421304,7 @@ subset: rare xref: GARD:19115 {source="Orphanet:90068"} xref: ICD10CM:T40.5 {source="Orphanet:90068", source="Orphanet:90068/e"} xref: icd11.foundation:1965837313 {source="MONDO:equivalentTo", source="Orphanet:90068"} +xref: icd11.foundation:1965837313 {source="MONDO:equivalentTo"} xref: ICD9:292.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:90068 {source="MONDO:equivalentTo"} xref: SCTID:27956007 {source="MONDO:equivalentTo"} @@ -418345,6 +421448,7 @@ synonym: "peripheral neuropathy and optic atrophy" EXACT [Orphanet:90120] xref: DOID:0080068 {source="MONDO:equivalentTo"} xref: GARD:16787 {source="Orphanet:90120"} xref: ICD10CM:G60.0 {source="Orphanet:90120/attributed", source="Orphanet:90120/ntbt", source="Orphanet:90120"} +xref: icd11.foundation:467894833 {source="MONDO:equivalentTo"} xref: Orphanet:90120 {source="MONDO:equivalentTo"} xref: UMLS:C0393807 {source="Orphanet:90120", source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease @@ -418365,6 +421469,7 @@ subset: rare synonym: "lipodystrophia centrifugalis abdominalis infantilis" EXACT [Orphanet:90156] xref: GARD:19125 {source="Orphanet:90156"} xref: ICD10CM:E88.1 {source="Orphanet:90156", source="Orphanet:90156/ntbt"} +xref: icd11.foundation:1561732835 {source="MONDO:equivalentTo"} xref: Orphanet:90156 {source="MONDO:equivalentTo"} is_a: MONDO:0019194 {source="Orphanet:90156"} ! localized lipodystrophy @@ -418478,6 +421583,7 @@ synonym: "DLE" EXACT ABBREVIATION [NCIT:C26820] xref: GARD:19131 {source="Orphanet:90281"} xref: ICD10CM:L93.0 {source="Orphanet:90281", source="MONDO:equivalentTo", source="Orphanet:90281/e"} xref: icd11.foundation:2144907708 {source="Orphanet:90281", source="MONDO:equivalentTo"} +xref: icd11.foundation:2144907708 {source="MONDO:equivalentTo"} xref: MedDRA:10013072 {source="Orphanet:90281", source="Orphanet:90281/e"} xref: MESH:D008179 {source="Orphanet:90281", source="MONDO:equivalentTo", source="Orphanet:90281/e"} xref: NCIT:C26820 {source="MONDO:equivalentTo"} @@ -418515,6 +421621,7 @@ synonym: "let" EXACT [NCIT:C117112] synonym: "tumid lupus erythematosus" RELATED [GARD:0013003] xref: GARD:13003 {source="Orphanet:90283"} xref: ICD10CM:L93.2 {source="Orphanet:90283/ntbt", source="Orphanet:90283"} +xref: icd11.foundation:153320433 {source="MONDO:equivalentTo"} xref: NCIT:C117112 {source="MONDO:equivalentTo"} xref: Orphanet:90283 {source="MONDO:equivalentTo"} xref: SCTID:200941006 {source="MONDO:equivalentTo"} @@ -418762,6 +421869,7 @@ xref: DOID:0080907 {source="MONDO:equivalentTo"} xref: GARD:1415 {source="Orphanet:90321"} xref: GARD:15154 {source="OMIM:216400"} xref: ICD10CM:Q87.8 {source="Orphanet:90321", source="Orphanet:90321/attributed", source="Orphanet:90321/ntbt"} +xref: icd11.foundation:1271368066 {source="MONDO:equivalentTo"} xref: NCIT:C135725 {source="MONDO:equivalentTo"} xref: OMIM:216400 {source="MONDO:equivalentTo", source="Orphanet:90321", source="GARD:0001415", source="Orphanet:90321/btnt"} xref: Orphanet:191 {source="OMIM:216400"} @@ -418796,6 +421904,7 @@ xref: DOID:0080908 {source="MONDO:equivalentTo"} xref: GARD:1420 {source="Orphanet:90322"} xref: GARD:15067 {source="OMIM:133540"} xref: ICD10CM:Q87.8 {source="Orphanet:90322", source="Orphanet:90322/attributed", source="Orphanet:90322/ntbt"} +xref: icd11.foundation:1604701958 {source="MONDO:equivalentTo"} xref: NCIT:C135726 {source="MONDO:equivalentTo"} xref: OMIM:133540 {source="MONDO:equivalentTo", source="Orphanet:90322", source="Orphanet:90322/btnt"} xref: Orphanet:191 {source="OMIM:133540"} @@ -418822,6 +421931,7 @@ synonym: "cutis laxa, autosomal dominant" EXACT [MONDO:patterns/autosomal_domina xref: DOID:0070142 {source="MONDO:equivalentTo"} xref: GARD:1639 {source="Orphanet:90348"} xref: ICD10CM:Q82.8 {source="DOID:0070142", source="Orphanet:90348/attributed", source="Orphanet:90348/ntbt", source="Orphanet:90348"} +xref: icd11.foundation:720393698 {source="MONDO:equivalentTo"} xref: MESH:C562627 {source="MONDO:equivalentTo"} xref: Orphanet:90348 {source="DOID:0070142", source="MONDO:equivalentTo"} xref: SCTID:111388003 {source="MONDO:equivalentTo"} @@ -418899,6 +422009,7 @@ subset: orphanet_rare {source="Orphanet:90363"} subset: rare xref: GARD:19135 {source="Orphanet:90363"} xref: ICD10CM:I89.0 {source="Orphanet:90363/ntbt", source="Orphanet:90363"} +xref: icd11.foundation:1730894033 {source="MONDO:equivalentTo"} xref: Orphanet:90363 {source="MONDO:equivalentTo"} xref: SCTID:717255008 {source="MONDO:equivalentTo"} xref: UMLS:C4273969 {source="MONDO:equivalentTo"} @@ -418931,6 +422042,7 @@ subset: orphanet_rare {source="Orphanet:90389"} subset: rare xref: GARD:19136 {source="Orphanet:90389"} xref: ICD10CM:Q82.2 {source="Orphanet:90389", source="Orphanet:90389/ntbt"} +xref: icd11.foundation:444226072 {source="MONDO:equivalentTo"} xref: ICD9:448.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10043192 {source="Orphanet:90389", source="Orphanet:90389/e"} xref: Orphanet:90389 {source="MONDO:equivalentTo"} @@ -419013,6 +422125,7 @@ subset: orphanet_rare {source="Orphanet:90396"} subset: rare xref: GARD:19140 {source="Orphanet:90396"} xref: ICD10CM:L98.5 {source="Orphanet:90396/ntbt", source="Orphanet:90396"} +xref: icd11.foundation:712202928 {source="MONDO:equivalentTo"} xref: ICD9:701.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:90396 {source="MONDO:equivalentTo"} xref: SCTID:238949006 {source="MONDO:equivalentTo"} @@ -419238,6 +422351,7 @@ synonym: "Simmonds' disease" EXACT [DOID:9410] xref: DOID:9410 {source="MONDO:equivalentTo"} xref: GARD:15020 {source="Orphanet:90695"} xref: ICD10CM:E23.0 {source="Orphanet:90695/inclusion", source="Orphanet:90695", source="DOID:9410", source="Orphanet:90695/ntbt"} +xref: icd11.foundation:1576287890 {source="MONDO:equivalentTo"} xref: ICD9:253.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9410"} xref: MedDRA:10033662 {source="Orphanet:90695", source="Orphanet:90695/e"} xref: MESH:C580003 {source="DOID:9410"} @@ -419385,6 +422499,7 @@ synonym: "XP" EXACT ABBREVIATION [Orphanet:910] xref: DOID:0050427 {source="MONDO:equivalentTo"} xref: GARD:7910 {source="Orphanet:910"} xref: ICD10CM:Q82.1 {source="Orphanet:910", source="MONDO:equivalentTo", source="DOID:0050427", source="Orphanet:910/specific", source="Orphanet:910/e"} +xref: icd11.foundation:1243068849 {source="MONDO:equivalentTo"} xref: icd11.foundation:1243068849 {source="Orphanet:910", source="MONDO:equivalentTo"} xref: MedDRA:10048220 {source="Orphanet:910", source="Orphanet:910/e"} xref: MESH:D014983 {source="Orphanet:910", source="MONDO:equivalentTo", source="DOID:0050427", source="Orphanet:910/e"} @@ -419596,6 +422711,7 @@ xref: HP:0002044 {source="MONDO:otherHierarchy"} xref: ICD10CM:C25.4 {source="MONDO:relatedTo", source="Orphanet:913", source="Orphanet:913/ntbt"} xref: ICD10CM:E16.4 {source="DOID:0050782", source="Orphanet:913", source="Orphanet:913/ntbt"} xref: icd11.foundation:375645550 {source="MONDO:equivalentTo", source="Orphanet:913"} +xref: icd11.foundation:375645550 {source="MONDO:equivalentTo"} xref: MedDRA:10017852 {source="Orphanet:913", source="Orphanet:913/e"} xref: MESH:D015043 {source="DOID:0050782", source="MONDO:equivalentTo", source="Orphanet:913", source="EFO:0007549", source="Orphanet:913/e"} xref: MESH:D015408 {source="Orphanet:913", source="Orphanet:913/e", source="MONDO:directSiblingOf"} @@ -419664,6 +422780,7 @@ synonym: "TSH-producing pituitary gland adenoma" EXACT [NCIT:C8011] synonym: "TSHoma" EXACT [NCIT:C8011] xref: GARD:19157 {source="Orphanet:91347"} xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:91347/ntbt", source="Orphanet:91347"} +xref: icd11.foundation:125504731 {source="MONDO:equivalentTo"} xref: NCIT:C8011 {source="MONDO:equivalentObsolete"} xref: Orphanet:91347 {source="MONDO:equivalentTo"} xref: UMLS:C0346303 {source="NCIT:C8011", source="Orphanet:91347/e", source="MONDO:equivalentTo", source="Orphanet:91347"} @@ -419781,6 +422898,7 @@ subset: rare synonym: "hypopituitarism due to empty sella turcica syndrome" EXACT [Orphanet:91354] xref: GARD:19163 {source="Orphanet:91354"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:91354", source="Orphanet:91354/ntbt"} +xref: icd11.foundation:309067714 {source="MONDO:equivalentTo"} xref: Orphanet:91354 {source="MONDO:equivalentTo"} xref: SCTID:715668008 {source="MONDO:equivalentTo"} xref: UMLS:C4275064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -419803,6 +422921,7 @@ synonym: "Sheehan's syndrome" EXACT [DOID:9476] xref: DOID:9476 {source="MONDO:equivalentTo"} xref: GARD:7630 {source="Orphanet:91355"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:91355", source="DOID:9476", source="Orphanet:91355/ntbt"} +xref: icd11.foundation:421687193 {source="MONDO:equivalentTo"} xref: MedDRA:10036297 {source="Orphanet:91355", source="Orphanet:91355/e"} xref: MESH:D007018 {source="MONDO:relatedTo", source="DOID:9476"} xref: NCIT:C35300 {source="MONDO:equivalentTo", source="DOID:9476"} @@ -419865,6 +422984,7 @@ subset: rare synonym: "CPI" EXACT ABBREVIATION [Orphanet:91359] xref: GARD:19166 {source="Orphanet:91359"} xref: ICD10CM:J84.0 {source="Orphanet:91359", source="Orphanet:91359/ntbt"} +xref: icd11.foundation:1821220054 {source="MONDO:equivalentTo"} xref: icd11.foundation:1821220054 {source="MONDO:equivalentTo", source="Orphanet:91359"} xref: Orphanet:91359 {source="MONDO:equivalentTo"} xref: SCTID:708026002 {source="MONDO:equivalentTo"} @@ -419916,6 +423036,7 @@ synonym: "hereditary non histamine-induced angioedema" EXACT [Orphanet:91378] xref: DOID:14735 {source="MONDO:equivalentTo"} xref: GARD:5979 {source="Orphanet:91378"} xref: ICD10CM:D84.1 {source="Orphanet:91378/inclusion", source="Orphanet:91378", source="Orphanet:91378/ntbt"} +xref: icd11.foundation:795969334 {source="MONDO:equivalentTo"} xref: icd11.foundation:795969334 {source="MONDO:equivalentTo", source="Orphanet:91378"} xref: MedDRA:10019860 {source="Orphanet:91378", source="Orphanet:91378/e"} xref: MESH:D054179 {source="DOID:14735", source="MONDO:equivalentTo"} @@ -419951,6 +423072,7 @@ xref: DOID:0080941 {source="MONDO:equivalentTo"} xref: GARD:8605 {source="Orphanet:91385"} xref: ICD10CM:T78.3 {source="Orphanet:91385", source="Orphanet:91385/e"} xref: icd11.foundation:1078767412 {source="Orphanet:91385", source="MONDO:equivalentTo"} +xref: icd11.foundation:1078767412 {source="MONDO:equivalentTo"} xref: MESH:C538173 {source="Orphanet:91385", source="MONDO:equivalentTo", source="Orphanet:91385/e"} xref: Orphanet:91385 {source="MONDO:equivalentTo"} xref: UMLS:C2931758 {source="Orphanet:91385", source="MONDO:equivalentTo", source="Orphanet:91385/e"} @@ -420066,6 +423188,7 @@ xref: DOID:0060252 {source="MONDO:equivalentTo"} xref: GARD:16800 {source="Orphanet:91490"} xref: HP:0000647 {source="DOID:0060252", source="MONDO:otherHierarchy"} xref: ICD10CM:Q13.3 {source="Orphanet:91490/specific", source="Orphanet:91490/e", source="Orphanet:91490"} +xref: icd11.foundation:995798428 {source="MONDO:equivalentTo"} xref: MESH:C565209 {source="DOID:0060252", source="MONDO:equivalentTo"} xref: Orphanet:91490 {source="DOID:0060252", source="MONDO:equivalentTo"} xref: UMLS:C1853235 {source="DOID:0060252", source="MONDO:notFoundInDiseaseSubset"} @@ -420108,6 +423231,7 @@ synonym: "PHPV" EXACT ABBREVIATION [Orphanet:91495] xref: DOID:0060282 {source="MONDO:equivalentTo"} xref: GARD:16803 {source="Orphanet:91495"} xref: ICD10CM:Q14.0 {source="Orphanet:91495/attributed", source="Orphanet:91495/ntbt", source="Orphanet:91495"} +xref: icd11.foundation:1011137326 {source="MONDO:equivalentTo"} xref: MESH:D054514 {source="Orphanet:91495", source="MONDO:equivalentTo", source="Orphanet:91495/e", source="DOID:0060282"} xref: NCIT:C161554 {source="MONDO:equivalentTo"} xref: OMIMPS:221900 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} @@ -420186,6 +423310,7 @@ xref: ICD10CM:A68 {source="MONDO:equivalentTo", source="DOID:13034"} xref: ICD10CM:A68.0 {source="Orphanet:91547/btnt", source="Orphanet:91547"} xref: ICD10CM:A68.1 {source="Orphanet:91547/btnt", source="Orphanet:91547"} xref: ICD10CM:A68.9 {source="Orphanet:91547/btnt", source="DOID:13034", source="Orphanet:91547"} +xref: icd11.foundation:965498095 {source="MONDO:equivalentTo"} xref: icd11.foundation:965498095 {source="MONDO:equivalentTo", source="Orphanet:91547"} xref: ICD9:087 {source="DOID:13034"} xref: ICD9:087.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13034"} @@ -420264,6 +423389,7 @@ synonym: "congenital solitary kidney" EXACT [NCIT:C101220] synonym: "unilateral renal agenesis" EXACT [NCIT:C101220] xref: GARD:16804 {source="Orphanet:93100"} xref: ICD10CM:Q60.0 {source="Orphanet:93100", source="MONDO:equivalentTo", source="Orphanet:93100/e", source="Orphanet:93100/specific"} +xref: icd11.foundation:760295498 {source="MONDO:equivalentTo"} xref: MedDRA:10053624 {source="Orphanet:93100", source="Orphanet:93100/e"} xref: NCIT:C101220 {source="MONDO:equivalentTo"} xref: Orphanet:93100 {source="MONDO:equivalentTo"} @@ -420311,6 +423437,7 @@ synonym: "renal dysplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-216 xref: GARD:19173 {source="Orphanet:93108"} xref: HP:0000110 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q61.4 {source="Orphanet:93108/e", source="Orphanet:93108/specific", source="Orphanet:93108"} +xref: icd11.foundation:921320354 {source="MONDO:equivalentTo"} xref: icd11.foundation:921320354 {source="MONDO:equivalentTo", source="Orphanet:93108"} xref: Orphanet:93108 {source="MONDO:equivalentTo"} xref: UMLS:C3536714 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93108"} @@ -420330,6 +423457,7 @@ subset: orphanet_rare {source="Orphanet:93109"} subset: rare xref: GARD:19174 {source="Orphanet:93109"} xref: ICD10CM:Q63.8 {source="Orphanet:93109/ntbt", source="Orphanet:93109"} +xref: icd11.foundation:954627950 {source="MONDO:equivalentTo"} xref: ICD9:753.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:93109 {source="MONDO:equivalentTo"} xref: SCTID:85901000 {source="MONDO:equivalentTo"} @@ -420422,6 +423550,7 @@ subset: rare synonym: "TPHA" EXACT ABBREVIATION [Orphanet:93164] xref: GARD:19176 {source="Orphanet:93164"} xref: ICD10CM:N15.8 {source="Orphanet:93164", source="Orphanet:93164/ntbt"} +xref: icd11.foundation:225064822 {source="MONDO:equivalentTo"} xref: Orphanet:93164 {source="MONDO:equivalentTo"} xref: SCTID:717263009 {source="MONDO:equivalentTo"} xref: UMLS:C4273962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -420507,6 +423636,7 @@ xref: DOID:0080043 {source="MONDO:equivalentTo"} xref: GARD:2882 {source="Orphanet:932"} xref: ICD10CM:Q77.0 {source="Orphanet:932", source="MONDO:equivalentTo", source="Orphanet:932/specific", source="Orphanet:932/e"} xref: icd11.foundation:103965243 {source="Orphanet:932", source="MONDO:equivalentTo"} +xref: icd11.foundation:103965243 {source="MONDO:equivalentTo"} xref: MedDRA:10066122 {source="Orphanet:932", source="Orphanet:932/e"} xref: MESH:C579878 {source="MONDO:equivalentTo"} xref: NCIT:C84527 {source="MONDO:equivalentTo"} @@ -420646,6 +423776,7 @@ synonym: "classic Pfeiffer syndrome" EXACT [Orphanet:93258] synonym: "Pfeiffer syndrome type 1" EXACT CLINGEN_LABEL [] xref: GARD:16807 {source="Orphanet:93258"} xref: ICD10CM:Q87.0 {source="Orphanet:93258", source="Orphanet:93258/attributed", source="Orphanet:93258/ntbt"} +xref: icd11.foundation:490354109 {source="MONDO:equivalentTo"} xref: Orphanet:93258 {source="MONDO:equivalentTo"} xref: UMLS:C5438812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0007043 {source="Orphanet:93258"} ! Pfeiffer syndrome @@ -420661,6 +423792,7 @@ subset: orphanet_rare {source="Orphanet:93259"} subset: rare xref: GARD:16808 {source="Orphanet:93259"} xref: ICD10CM:Q87.0 {source="Orphanet:93259", source="Orphanet:93259/attributed", source="Orphanet:93259/ntbt"} +xref: icd11.foundation:531949642 {source="MONDO:equivalentTo"} xref: Orphanet:93259 {source="MONDO:equivalentTo"} xref: UMLS:C5438849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0007043 {source="Orphanet:93259"} ! Pfeiffer syndrome @@ -420676,6 +423808,7 @@ subset: orphanet_rare {source="Orphanet:93260"} subset: rare xref: GARD:16809 {source="Orphanet:93260"} xref: ICD10CM:Q87.0 {source="Orphanet:93260/attributed", source="Orphanet:93260/ntbt", source="Orphanet:93260"} +xref: icd11.foundation:1910513449 {source="MONDO:equivalentTo"} xref: Orphanet:93260 {source="MONDO:equivalentTo"} xref: UMLS:C5438850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0007043 {source="Orphanet:93260"} ! Pfeiffer syndrome @@ -420694,6 +423827,7 @@ synonym: "short rib-polydactyly syndrome type 2" EXACT [Orphanet:93269] synonym: "SRPS type 2" RELATED [GARD:0004833] xref: GARD:4833 {source="Orphanet:93269"} xref: ICD10CM:Q77.2 {source="Orphanet:93269", source="Orphanet:93269/attributed", source="Orphanet:93269/ntbt"} +xref: icd11.foundation:132740256 {source="MONDO:equivalentTo"} xref: ICD9:756.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:93269 {source="MONDO:equivalentTo"} xref: SCTID:72922008 {source="MONDO:equivalentTo"} @@ -420733,6 +423867,7 @@ xref: GARD:19181 {source="Orphanet:93277"} xref: HP:0010736 {source="MONDO:otherHierarchy"} xref: ICD10CM:M85.0 {source="Orphanet:93277"} xref: ICD10CM:Q78.1 {source="Orphanet:93277/attributed", source="Orphanet:93277/ntbt", source="MONDO:directSiblingOf"} +xref: icd11.foundation:1033883899 {source="MONDO:equivalentTo"} xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D005358 {source="Orphanet:93277", source="MONDO:equivalentTo", source="Orphanet:93277/e"} xref: NCIT:C53971 {source="MONDO:equivalentTo"} @@ -420828,6 +423963,7 @@ xref: DOID:0080044 {source="MONDO:equivalentTo"} xref: GARD:16815 {source="Orphanet:93297"} xref: ICD10CM:Q77.0 {source="Orphanet:93297/ntbt", source="Orphanet:93297", source="Orphanet:93297/inclusion"} xref: icd11.foundation:1494246635 {source="Orphanet:93297", source="MONDO:equivalentTo"} +xref: icd11.foundation:1494246635 {source="MONDO:equivalentTo"} xref: MESH:C563007 {source="MONDO:equivalentTo"} xref: Orphanet:93297 {source="MONDO:equivalentTo"} xref: UMLS:C0542428 {source="Orphanet:93297", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93297/e"} @@ -420849,6 +423985,7 @@ synonym: "ulnar clubhand" EXACT [Orphanet:93320] synonym: "ulnar longitudinal meromelia" EXACT [Orphanet:93320] xref: GARD:19182 {source="Orphanet:93320"} xref: ICD10CM:Q71.5 {source="Orphanet:93320", source="Orphanet:93320/e", source="Orphanet:93320/specific"} +xref: icd11.foundation:1136383237 {source="MONDO:equivalentTo"} xref: icd11.foundation:1136383237 {source="Orphanet:93320", source="MONDO:equivalentTo"} xref: ICD9:755.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:93320 {source="MONDO:equivalentTo"} @@ -420870,6 +424007,7 @@ synonym: "radial longitidinal meromelia" EXACT [Orphanet:93321] synonym: "radial ray agenesis" EXACT [Orphanet:93321] xref: GARD:225 {source="Orphanet:93321"} xref: ICD10CM:Q71.4 {source="Orphanet:93321", source="Orphanet:93321/specific", source="Orphanet:93321/e"} +xref: icd11.foundation:653269137 {source="MONDO:equivalentTo"} xref: icd11.foundation:653269137 {source="Orphanet:93321", source="MONDO:equivalentTo"} xref: ICD9:755.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:93321 {source="MONDO:equivalentTo"} @@ -420889,6 +424027,7 @@ synonym: "congenital longitudinal deficiency of the fibula" EXACT [Orphanet:9332 synonym: "fibular longitudinal meromelia" EXACT [Orphanet:93323] xref: GARD:8659 {source="Orphanet:93323"} xref: ICD10CM:Q72.6 {source="Orphanet:93323", source="Orphanet:93323/specific", source="Orphanet:93323/e"} +xref: icd11.foundation:915482054 {source="MONDO:equivalentTo"} xref: icd11.foundation:915482054 {source="MONDO:equivalentTo", source="Orphanet:93323"} xref: Orphanet:93323 {source="MONDO:equivalentTo"} is_a: MONDO:0016240 {source="Orphanet:93323"} ! hemimelia @@ -420907,6 +424046,7 @@ synonym: "postaxial polydactyly type A (disease)" EXACT [https://orcid.org/0000- xref: GARD:16817 {source="Orphanet:93334"} xref: HP:0005696 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q69.0 {source="Orphanet:93334", source="Orphanet:93334/attributed", source="Orphanet:93334/ntbt"} +xref: icd11.foundation:476330894 {source="MONDO:equivalentTo"} xref: Orphanet:93334 {source="MONDO:equivalentTo"} xref: SCTID:715704001 {source="MONDO:equivalentTo"} xref: UMLS:C3887487 {source="MONDO:equivalentTo", source="Orphanet:93334"} @@ -420925,6 +424065,7 @@ subset: rare synonym: "PAPB" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165, OMIM:174200] xref: GARD:16818 {source="Orphanet:93335"} xref: ICD10CM:Q69.0 {source="Orphanet:93335", source="Orphanet:93335/attributed", source="Orphanet:93335/ntbt"} +xref: icd11.foundation:366939273 {source="MONDO:equivalentTo"} xref: OMIM:174200 {source="Orphanet:93335", source="MONDO:includedEntryInOMIM", source="Orphanet:93335/ntbt"} xref: Orphanet:93335 {source="MONDO:equivalentTo"} xref: SCTID:715707008 {source="MONDO:equivalentTo"} @@ -420978,6 +424119,7 @@ subset: orphanet_rare {source="Orphanet:93383"} subset: rare xref: GARD:985 {source="Orphanet:93383"} xref: ICD10CM:Q73.8 {source="Orphanet:93383", source="Orphanet:93383/attributed", source="Orphanet:93383/ntbt"} +xref: icd11.foundation:1534264812 {source="MONDO:equivalentTo"} xref: Orphanet:93383 {source="MONDO:equivalentTo"} xref: SCTID:389168002 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5493-2602"} xref: UMLS:C1300267 {source="Orphanet:93383", source="MONDO:equivalentTo", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93383/e", source="https://orcid.org/0000-0001-5493-2602"} @@ -420996,6 +424138,7 @@ subset: rare synonym: "type E brachydactyly" RELATED [GARD:0000987] xref: GARD:987 {source="Orphanet:93387"} xref: ICD10CM:Q73.8 {source="Orphanet:93387/attributed", source="Orphanet:93387/ntbt", source="Orphanet:93387"} +xref: icd11.foundation:712007423 {source="MONDO:equivalentTo"} xref: Orphanet:93387 {source="MONDO:equivalentTo"} xref: UMLS:C0265312 {source="Orphanet:93387", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93387/e"} is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly @@ -421012,6 +424155,7 @@ synonym: "absent middle phalanges of digits 2-5 with nail dysplasia" RELATED [GA synonym: "brachydactyly type A5 nail dysplasia" RELATED [GARD:0000982] synonym: "brachydactyly with absence of middle phalanges and hypoplastic nails" RELATED [GARD:0000982] xref: ICD10CM:Q73.8 {source="Orphanet:93389", source="Orphanet:93389/attributed", source="Orphanet:93389/ntbt"} +xref: icd11.foundation:291957825 {source="MONDO:equivalentTo"} xref: MESH:C537091 {source="MONDO:equivalentTo"} xref: OMIM:112900 {source="MONDO:equivalentObsolete", source="GARD:0000982"} xref: Orphanet:93389 {source="MONDO:equivalentObsolete"} @@ -421033,6 +424177,7 @@ synonym: "brachydactyly Smorgasbord type" RELATED [GARD:0000984] synonym: "brachydactyly, Smorgasbord type" EXACT [Orphanet:93397] xref: GARD:984 {source="Orphanet:93397"} xref: ICD10CM:Q73.8 {source="Orphanet:93397", source="Orphanet:93397/attributed", source="Orphanet:93397/ntbt"} +xref: icd11.foundation:1487696553 {source="MONDO:equivalentTo"} xref: Orphanet:93397 {source="MONDO:equivalentTo"} xref: SCTID:720571006 {source="MONDO:equivalentTo"} xref: UMLS:C4303991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -421049,6 +424194,7 @@ subset: ordo_disease {source="Orphanet:93398"} subset: orphanet_rare {source="Orphanet:93398"} subset: rare xref: GARD:16820 {source="Orphanet:93398"} +xref: icd11.foundation:1033432522 {source="MONDO:equivalentTo"} xref: Orphanet:93398 {source="MONDO:equivalentTo"} xref: SCTID:725904009 {source="MONDO:equivalentTo"} xref: UMLS:C4511481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -421066,6 +424212,7 @@ subset: rare synonym: "dysmorphic sialidosis, juvenile form" EXACT [] xref: GARD:19183 {source="Orphanet:93399"} xref: ICD10CM:E77.1 {source="Orphanet:93399/attributed", source="Orphanet:93399/ntbt", source="Orphanet:93399"} +xref: icd11.foundation:1730484030 {source="MONDO:equivalentTo"} xref: Orphanet:93399 {source="MONDO:equivalentTo"} xref: SCTID:111383007 {source="MONDO:equivalentTo"} is_a: MONDO:0009738 {source="Orphanet:93399"} ! sialidosis type 2 @@ -421080,6 +424227,7 @@ subset: orphanet_rare {source="Orphanet:93400"} subset: rare xref: GARD:19184 {source="Orphanet:93400"} xref: ICD10CM:E77.1 {source="Orphanet:93400", source="Orphanet:93400/attributed", source="Orphanet:93400/ntbt"} +xref: icd11.foundation:1994237121 {source="MONDO:equivalentTo"} xref: Orphanet:93400 {source="MONDO:equivalentTo"} is_a: MONDO:0009738 {source="Orphanet:93400"} ! sialidosis type 2 @@ -421366,6 +424514,7 @@ synonym: "chondrodysplasia punctata congenita" EXACT [DOID:2581] xref: DOID:2581 {source="MONDO:equivalentTo"} xref: GARD:8542 {source="Orphanet:93442"} xref: ICD10CM:Q77.3 {source="Orphanet:93442", source="MONDO:equivalentTo", source="Orphanet:93442/specific", source="Orphanet:93442/e", source="DOID:2581"} +xref: icd11.foundation:1923035846 {source="MONDO:equivalentTo"} xref: icd11.foundation:1923035846 {source="Orphanet:93442", source="MONDO:equivalentTo"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D002806 {source="Orphanet:93442", source="MONDO:equivalentTo", source="Orphanet:93442/e", source="DOID:2581"} @@ -421460,6 +424609,7 @@ subset: ordo_group_of_disorders {source="Orphanet:93449"} subset: orphanet_rare {source="Orphanet:93449"} subset: rare xref: GARD:19204 {source="Orphanet:93449"} +xref: icd11.foundation:285636466 {source="MONDO:equivalentTo"} xref: Orphanet:93449 {source="MONDO:equivalentTo"} is_a: MONDO:0018230 {source="Orphanet:93449", source="PMID:31633310"} ! skeletal dysplasia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -421813,6 +424963,7 @@ subset: rare synonym: "HCDD" EXACT ABBREVIATION [Orphanet:93556] xref: GARD:19222 {source="Orphanet:93556"} xref: ICD10CM:D89.8 {source="Orphanet:93556", source="Orphanet:93556/ntbt"} +xref: icd11.foundation:2018948190 {source="MONDO:equivalentTo"} xref: icd11.foundation:2018948190 {source="MONDO:equivalentTo", source="Orphanet:93556"} xref: NCIT:C7339 {source="MONDO:equivalentTo"} xref: Orphanet:93556 {source="MONDO:equivalentTo"} @@ -421830,6 +424981,7 @@ subset: rare synonym: "LHCDD" EXACT ABBREVIATION [Orphanet:93557] xref: GARD:19223 {source="Orphanet:93557"} xref: ICD10CM:D89.8 {source="Orphanet:93557", source="Orphanet:93557/ntbt"} +xref: icd11.foundation:1815409370 {source="MONDO:equivalentTo"} xref: icd11.foundation:1815409370 {source="MONDO:equivalentTo", source="Orphanet:93557"} xref: NCIT:C158965 {source="MONDO:equivalentTo"} xref: Orphanet:93557 {source="MONDO:equivalentTo"} @@ -421853,6 +425005,7 @@ synonym: "Light-chain deposition disease" RELATED [GARD:0006906] xref: GARD:6906 {source="Orphanet:93558"} xref: ICD10CM:D89.8 {source="Orphanet:93558/ntbt", source="Orphanet:93558"} xref: icd11.foundation:1612001446 {source="MONDO:equivalentTo", source="Orphanet:93558"} +xref: icd11.foundation:1612001446 {source="MONDO:equivalentTo"} xref: NCIT:C7727 {source="MONDO:equivalentTo"} xref: Orphanet:93558 {source="MONDO:equivalentTo"} xref: SCTID:373604002 {source="MONDO:equivalentTo"} @@ -421894,6 +425047,7 @@ synonym: "hereditary renal amyloidosis due to lysozyme variant" EXACT [Orphanet: synonym: "lysozyme amyloidosis" EXACT [Orphanet:93561] xref: GARD:19225 {source="Orphanet:93561"} xref: ICD10CM:E85.0 {source="Orphanet:93561/attributed", source="Orphanet:93561/ntbt", source="Orphanet:93561"} +xref: icd11.foundation:831687561 {source="MONDO:equivalentTo"} xref: Orphanet:93561 {source="MONDO:equivalentTo"} xref: UMLS:CN206639 {source="MONDO:equivalentTo"} is_a: MONDO:0007099 {source="Orphanet:93561"} ! familial visceral amyloidosis @@ -421912,6 +425066,7 @@ synonym: "hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant synonym: "hereditary renal amyloidosis due to fibrinogen A alpha-chain variant" EXACT [Orphanet:93562] xref: GARD:19226 {source="Orphanet:93562"} xref: ICD10CM:E85.0 {source="Orphanet:93562", source="Orphanet:93562/attributed", source="Orphanet:93562/ntbt"} +xref: icd11.foundation:141110588 {source="MONDO:equivalentTo"} xref: Orphanet:93562 {source="MONDO:equivalentTo"} is_a: MONDO:0007099 {source="Orphanet:93562"} ! familial visceral amyloidosis @@ -421930,6 +425085,7 @@ xref: EFO:1001988 {source="MONDO:equivalentTo"} xref: GARD:12742 {source="Orphanet:93568"} xref: ICD10CM:M33.2 {source="Orphanet:93568", source="Orphanet:93568/ntbt"} xref: icd11.foundation:633330307 {source="MONDO:equivalentTo", source="Orphanet:93568"} +xref: icd11.foundation:633330307 {source="MONDO:equivalentTo"} xref: NCIT:C114358 {source="MONDO:equivalentTo"} xref: Orphanet:93568 {source="MONDO:equivalentTo"} xref: SCTID:738526005 {source="MONDO:equivalentTo"} @@ -421953,6 +425109,7 @@ synonym: "rhizomelic pseudopolyarthritis" EXACT [Orphanet:93569] xref: DOID:853 {source="MONDO:equivalentTo"} xref: GARD:4704 {source="Orphanet:93569"} xref: ICD10CM:M35.3 {source="DOID:853", source="Orphanet:93569/e", source="Orphanet:93569"} +xref: icd11.foundation:103940897 {source="MONDO:equivalentTo"} xref: ICD9:725 {source="DOID:853", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10068240 {source="Orphanet:93569/e", source="Orphanet:93569"} xref: MESH:D011111 {source="DOID:853", source="MONDO:equivalentTo"} @@ -422151,6 +425308,7 @@ subset: orphanet_rare {source="Orphanet:93612"} subset: rare xref: GARD:16827 {source="Orphanet:93612"} xref: ICD10CM:E72.0 {source="Orphanet:93612", source="Orphanet:93612/attributed", source="Orphanet:93612/ntbt"} +xref: icd11.foundation:1172657361 {source="MONDO:equivalentTo"} xref: MESH:C565652 {source="MONDO:equivalentTo"} xref: Orphanet:93612 {source="MONDO:equivalentTo"} xref: UMLS:C1857388 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93612"} @@ -422167,6 +425325,7 @@ subset: orphanet_rare {source="Orphanet:93613"} subset: rare xref: GARD:16828 {source="Orphanet:93613"} xref: ICD10CM:E72.0 {source="Orphanet:93613/attributed", source="Orphanet:93613/ntbt", source="Orphanet:93613"} +xref: icd11.foundation:491796307 {source="MONDO:equivalentTo"} xref: Orphanet:93613 {source="MONDO:equivalentTo"} xref: UMLS:C1857389 {source="MONDO:equivalentTo", source="Orphanet:93613"} is_a: MONDO:0009067 {source="Orphanet:93613"} ! cystinuria @@ -422312,6 +425471,7 @@ synonym: "PMCD" EXACT ABBREVIATION [DOID:0111152] xref: DOID:0111152 {source="MONDO:equivalentTo"} xref: GARD:22310 {source="Orphanet:570438"} xref: ICD10CM:D36.0 {source="Orphanet:93686", source="Orphanet:93686/ntbt"} +xref: icd11.foundation:1590444463 {source="MONDO:equivalentTo"} xref: MESH:C537372 {source="Orphanet:93686", source="Orphanet:93686/e"} xref: NCIT:C27855 {source="MONDO:equivalentTo", source="DOID:0111152"} xref: Orphanet:570438 {source="MONDO:equivalentTo"} @@ -422357,6 +425517,7 @@ subset: orphanet_rare {source="Orphanet:93924"} subset: rare xref: GARD:16830 {source="Orphanet:93924"} xref: ICD10CM:Q04.2 {source="Orphanet:93924/attributed", source="Orphanet:93924/ntbt", source="Orphanet:93924"} +xref: icd11.foundation:121649206 {source="MONDO:equivalentTo"} xref: Orphanet:93924 {source="MONDO:equivalentTo"} xref: SCTID:253136007 {source="MONDO:equivalentTo"} xref: UMLS:C0431362 {source="Orphanet:93924/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93924"} @@ -422373,6 +425534,7 @@ subset: orphanet_rare {source="Orphanet:93925"} subset: rare xref: GARD:16831 {source="Orphanet:93925"} xref: ICD10CM:Q04.2 {source="Orphanet:93925/attributed", source="Orphanet:93925/ntbt", source="Orphanet:93925"} +xref: icd11.foundation:381193163 {source="MONDO:equivalentTo"} xref: Orphanet:93925 {source="MONDO:equivalentTo"} xref: SCTID:253137003 {source="MONDO:equivalentTo"} xref: UMLS:C0431363 {source="Orphanet:93925/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93925"} @@ -422418,6 +425580,7 @@ synonym: "epispadias (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:19235 {source="Orphanet:93928"} xref: HP:0000039 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q64.0 {source="Orphanet:93928", source="Orphanet:93928/e", source="Orphanet:93928/specific"} +xref: icd11.foundation:397402420 {source="MONDO:equivalentTo"} xref: icd11.foundation:397402420 {source="Orphanet:93928", source="MONDO:equivalentTo"} xref: ICD9:752.62 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10015088 {source="Orphanet:93928", source="Orphanet:93928/e"} @@ -422549,6 +425712,7 @@ subset: ordo_clinical_subtype {source="Orphanet:93946"} subset: orphanet_rare {source="Orphanet:93946"} subset: rare xref: GARD:19240 {source="Orphanet:93946"} +xref: icd11.foundation:1903143844 {source="MONDO:equivalentTo"} xref: Orphanet:93946 {source="MONDO:equivalentTo"} xref: UMLS:CN206702 {source="MONDO:equivalentTo"} is_a: MONDO:0010653 {source="Orphanet:93946"} ! Renpenning syndrome @@ -422600,6 +425764,7 @@ subset: rare xref: DOID:0050843 {source="MONDO:equivalentTo"} xref: GARD:19243 {source="Orphanet:93958"} xref: ICD10CM:G24.4 {source="Orphanet:93958/specific", source="Orphanet:93958/e", source="Orphanet:93958"} +xref: icd11.foundation:749381409 {source="MONDO:equivalentTo"} xref: Orphanet:93958 {source="MONDO:equivalentTo"} xref: UMLS:C2242577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000477 {source="DOID:0050843", source="Wikipedia:Dystonia"} ! focal dystonia @@ -422659,6 +425824,7 @@ xref: ICD10CM:Q05.6 {source="Orphanet:93969/attributed", source="Orphanet:93969/ xref: ICD10CM:Q05.7 {source="Orphanet:93969/attributed", source="Orphanet:93969/ntbt", source="Orphanet:93969"} xref: ICD10CM:Q05.8 {source="Orphanet:93969/attributed", source="Orphanet:93969/ntbt", source="Orphanet:93969"} xref: ICD10CM:Q05.9 {source="Orphanet:93969/attributed", source="Orphanet:93969/ntbt", source="Orphanet:93969"} +xref: icd11.foundation:1200528084 {source="MONDO:equivalentTo"} xref: MESH:D008591 {source="MONDO:equivalentTo", source="DOID:0060326"} xref: NCIT:C101201 {source="DOID:0060326"} xref: NCIT:C98874 {source="DOID:0060326"} @@ -422761,6 +425927,7 @@ subset: rare xref: GARD:16835 {source="Orphanet:93976"} xref: ICD10CM:Q16.0 {source="Orphanet:93976/specific", source="Orphanet:93976/nd", source="Orphanet:93976"} xref: ICD10CM:Q16.1 {source="Orphanet:93976/specific", source="Orphanet:93976/nd", source="Orphanet:93976"} +xref: icd11.foundation:2056675356 {source="MONDO:equivalentTo"} xref: icd11.foundation:2056675356 {source="MONDO:equivalentTo", source="Orphanet:93976"} xref: ICD9:744.01 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10002654 {source="Orphanet:93976/e", source="Orphanet:93976"} @@ -422799,6 +425966,7 @@ subset: rare synonym: "humero-ulnar fusion" EXACT [Orphanet:94056] xref: GARD:19244 {source="Orphanet:94056"} xref: ICD10CM:Q74.0 {source="Orphanet:94056/attributed", source="Orphanet:94056/ntbt", source="Orphanet:94056"} +xref: icd11.foundation:2144695561 {source="MONDO:equivalentTo"} xref: icd11.foundation:2144695561 {source="Orphanet:94056", source="MONDO:equivalentTo"} xref: Orphanet:94056 {source="MONDO:equivalentTo"} xref: UMLS:C0431799 {source="Orphanet:94056", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:94056/e"} @@ -422939,6 +426107,7 @@ synonym: "CHP" EXACT ABBREVIATION [Orphanet:94087] synonym: "Winkelmann cytophagic panniculitis" EXACT [Orphanet:94087] xref: GARD:19249 {source="Orphanet:94087"} xref: ICD10CM:M35.8 {source="Orphanet:94087", source="Orphanet:94087/ntbt"} +xref: icd11.foundation:1978274002 {source="MONDO:equivalentTo"} xref: Orphanet:94087 {source="MONDO:equivalentTo"} xref: SCTID:238883003 {source="MONDO:equivalentTo"} xref: UMLS:C0406594 {source="Orphanet:94087", source="MONDO:equivalentTo", source="Orphanet:94087/e"} @@ -422959,6 +426128,7 @@ xref: DOID:14464 {source="MONDO:equivalentTo"} xref: EFO:1001379 {source="MONDO:equivalentTo"} xref: GARD:7195 {source="Orphanet:94093"} xref: ICD10CM:G21.0 {source="Orphanet:94093/e", source="MONDO:equivalentTo", source="Orphanet:94093", source="DOID:14464"} +xref: icd11.foundation:498240876 {source="MONDO:equivalentTo"} xref: ICD9:333.92 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14464"} xref: MedDRA:10029282 {source="Orphanet:94093/e", source="Orphanet:94093"} xref: MESH:D009459 {source="Orphanet:94093/e", source="MONDO:equivalentTo", source="Orphanet:94093", source="DOID:14464"} @@ -423062,6 +426232,7 @@ synonym: "Acrania" EXACT [Orphanet:945] synonym: "primary acalvaria" RELATED [GARD:0000361] xref: GARD:361 {source="Orphanet:945"} xref: ICD10CM:Q00.0 {source="Orphanet:945", source="Orphanet:945/ntbt"} +xref: icd11.foundation:1719021696 {source="MONDO:equivalentTo"} xref: MESH:C535570 {source="MONDO:equivalentTo", source="Orphanet:945", source="Orphanet:945/e"} xref: MESH:D009436 {source="MONDO:relatedTo", source="Orphanet:945", source="Orphanet:945/e"} xref: Orphanet:945 {source="MONDO:equivalentTo"} @@ -423120,6 +426291,7 @@ synonym: "peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) s xref: DOID:14669 {source="MONDO:equivalentTo"} xref: GARD:5724 {source="Orphanet:950"} xref: ICD10CM:Q75.4 {source="Orphanet:950", source="Orphanet:950/attributed", source="Orphanet:950/ntbt"} +xref: icd11.foundation:477546932 {source="MONDO:equivalentTo"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C538179 {source="DOID:14669", source="Orphanet:950", source="MONDO:equivalentTo", source="Orphanet:950/e"} xref: NORD:722 {source="MONDO:NORD"} @@ -423152,6 +426324,7 @@ synonym: "HEP" EXACT ABBREVIATION [OMIM:176100, Orphanet:95159] xref: DOID:5230 {source="MONDO:equivalentTo"} xref: GARD:6169 {source="Orphanet:95159"} xref: ICD10CM:E80.2 {source="Orphanet:95159/attributed", source="Orphanet:95159/ntbt", source="Orphanet:95159"} +xref: icd11.foundation:214080046 {source="MONDO:equivalentTo"} xref: MESH:D017121 {source="Orphanet:95159", source="MONDO:equivalentTo", source="Orphanet:95159/e", source="DOID:5230"} xref: NCIT:C84754 {source="MONDO:equivalentTo", source="DOID:5230"} xref: OMIM:176100 {source="Orphanet:95159/ntbt", source="Orphanet:95159", source="MONDO:includedEntryInOMIM"} @@ -423237,6 +426410,7 @@ synonym: "angioma serpiginosum of skin" EXACT [DOID:4028] xref: DOID:4028 {source="MONDO:equivalentTo"} xref: GARD:15021 {source="Orphanet:95429"} xref: ICD10CM:L81.7 {source="DOID:4028", source="Orphanet:95429/inclusion", source="Orphanet:95429", source="Orphanet:95429/ntbt"} +xref: icd11.foundation:1724787481 {source="MONDO:equivalentTo"} xref: MESH:C536366 {source="DOID:4028"} xref: NCIT:C3926 {source="DOID:4028", source="MONDO:equivalentTo"} xref: Orphanet:95429 {source="DOID:4028", source="MONDO:equivalentTo"} @@ -423270,6 +426444,7 @@ xref: GARD:10515 {source="Orphanet:95430"} xref: HP:0002779 {source="MONDO:otherHierarchy", source="DOID:0060313"} xref: ICD10CM:Q32.0 {source="Orphanet:95430", source="Orphanet:95430/e", source="DOID:0060313", source="Orphanet:95430/specific"} xref: icd11.foundation:1616705280 {source="Orphanet:95430", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} +xref: icd11.foundation:303133490 {source="MONDO:equivalentTo"} xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10010654 {source="Orphanet:95430", source="Orphanet:95430/e"} xref: MESH:C557675 {source="Orphanet:95430", source="Orphanet:95430/e", source="DOID:0060313"} @@ -423314,6 +426489,7 @@ xref: GARD:325 {source="Orphanet:95431"} xref: ICD10CM:O43.0 {source="Orphanet:95431/ntbt", source="Orphanet:95431"} xref: ICD10CM:O43.02 {source="DOID:13576"} xref: ICD10CM:O43.029 {source="DOID:13576"} +xref: icd11.foundation:850604370 {source="MONDO:equivalentTo"} xref: MedDRA:10058328 {source="Orphanet:95431", source="Orphanet:95431/e"} xref: MESH:D005330 {source="EFO:1001221", source="MONDO:equivalentTo", source="DOID:13576"} xref: NCIT:C113824 {source="MONDO:equivalentTo", source="DOID:13576"} @@ -423366,6 +426542,7 @@ xref: GARD:19259 {source="Orphanet:95443"} xref: HP:0011599 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q24.8 {source="Orphanet:95443", source="Orphanet:95443/ntbt"} xref: icd11.foundation:1251061251 {source="Orphanet:95443", source="MONDO:equivalentTo"} +xref: icd11.foundation:1251061251 {source="MONDO:equivalentTo"} xref: ICD9:746.87 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:95443 {source="MONDO:equivalentTo"} xref: SCTID:16567006 {source="MONDO:equivalentTo"} @@ -423445,6 +426622,7 @@ synonym: "toxic epidermolysis" EXACT [Orphanet:95455] xref: EFO:0004775 {source="MONDO:equivalentTo"} xref: GARD:7743 {source="Orphanet:95455"} xref: ICD10CM:L51.2 {source="Orphanet:95455", source="Orphanet:95455/e"} +xref: icd11.foundation:1575072695 {source="MONDO:equivalentTo"} xref: icd11.foundation:195467267 {source="Orphanet:95455", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} xref: ICD9:695.15 {source="EFO:0004775", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10044223 {source="Orphanet:95455", source="Orphanet:95455/e"} @@ -423707,6 +426885,7 @@ synonym: "hypoplastic anterior pituitary, missing stalk, and ectopic posterior p synonym: "PSIS" EXACT ABBREVIATION [Orphanet:95496] xref: GARD:13209 {source="Orphanet:95496"} xref: ICD10CM:E23.6 {source="Orphanet:95496", source="Orphanet:95496/attributed", source="Orphanet:95496/ntbt"} +xref: icd11.foundation:1474283222 {source="MONDO:equivalentTo"} xref: NCIT:C121150 {source="MONDO:equivalentTo"} xref: Orphanet:95496 {source="MONDO:equivalentTo"} xref: SCTID:715727009 {source="MONDO:equivalentTo"} @@ -423999,6 +427178,7 @@ synonym: "acquired central diabetes insipidus" EXACT [MONDO:patterns/acquired] synonym: "acquired neurogenic diabetes insipidus" EXACT [Orphanet:95626] xref: GARD:19291 {source="Orphanet:95626"} xref: ICD10CM:E23.2 {source="MONDO:relatedTo", source="Orphanet:95626/ntbt", source="Orphanet:95626"} +xref: icd11.foundation:1677009817 {source="MONDO:equivalentTo"} xref: Orphanet:95626 {source="MONDO:equivalentTo"} is_a: MONDO:0015790 {source="MONDO:Redundant", source="Orphanet:95626"} ! central diabetes insipidus intersection_of: MONDO:0015790 ! central diabetes insipidus @@ -424130,6 +427310,7 @@ subset: orphanet_rare {source="Orphanet:95712"} subset: rare xref: GARD:16841 {source="Orphanet:95712"} xref: ICD10CM:E03.1 {source="Orphanet:95712", source="Orphanet:95712/attributed", source="Orphanet:95712/ntbt"} +xref: icd11.foundation:458251984 {source="MONDO:equivalentTo"} xref: Orphanet:95712 {source="MONDO:equivalentTo"} xref: UMLS:C0266283 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:95712"} is_a: MONDO:0009043 ! generalized resistance to thyroid hormone @@ -424230,6 +427411,7 @@ subset: orphanet_rare {source="Orphanet:95719"} subset: rare xref: GARD:16844 {source="Orphanet:95719"} xref: ICD10CM:E03.1 {source="Orphanet:95719/attributed", source="Orphanet:95719/ntbt", source="Orphanet:95719"} +xref: icd11.foundation:872920513 {source="MONDO:equivalentTo"} xref: Orphanet:95719 {source="MONDO:equivalentTo"} xref: SCTID:715734006 {source="MONDO:equivalentTo"} xref: UMLS:C4023190 {source="MONDO:equivalentTo"} @@ -424249,6 +427431,7 @@ subset: orphanet_rare {source="Orphanet:95720"} subset: rare xref: GARD:8426 {source="Orphanet:95720"} xref: ICD10CM:E03.1 {source="Orphanet:95720/attributed", source="Orphanet:95720/ntbt", source="Orphanet:95720"} +xref: icd11.foundation:936952450 {source="MONDO:equivalentTo"} xref: MedDRA:10065938 {source="Orphanet:95720", source="Orphanet:95720/e"} xref: Orphanet:95720 {source="MONDO:equivalentTo"} xref: UMLS:C0151516 {source="Orphanet:95720", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:95720/e"} @@ -424301,6 +427484,7 @@ synonym: "Isochromosome 21" EXACT [Orphanet:96055] synonym: "tetrasomy type 21" EXACT [MONDORULE:2, Orphanet:96055] xref: GARD:12480 {source="Orphanet:96055"} xref: ICD10CM:Q99.8 {source="Orphanet:96055/attributed", source="Orphanet:96055/ntbt", source="Orphanet:96055"} +xref: icd11.foundation:1246904243 {source="MONDO:equivalentTo"} xref: Orphanet:96055 {source="MONDO:equivalentTo"} xref: SCTID:764690001 {source="MONDO:equivalentTo"} is_a: MONDO:0030502 {source="https://orcid.org/0000-0001-5208-3432"} ! tetrasomy @@ -425312,6 +428496,7 @@ synonym: "maternal uniparental disomy of chromosome type 2" EXACT [MONDORULE:1, synonym: "UPD(2)mat" EXACT [Orphanet:96179] xref: GARD:19331 {source="Orphanet:96179"} xref: ICD10CM:Q99.8 {source="Orphanet:96179/attributed", source="Orphanet:96179/ntbt", source="Orphanet:96179"} +xref: icd11.foundation:2067230711 {source="MONDO:equivalentTo"} xref: Orphanet:96179 {source="MONDO:equivalentTo"} xref: SCTID:766237006 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -425330,6 +428515,7 @@ synonym: "maternal uniparental disomy of chromosome type 4" EXACT [MONDORULE:1, synonym: "UPD(4)mat" EXACT [Orphanet:96180] xref: GARD:19332 {source="Orphanet:96180"} xref: ICD10CM:Q99.8 {source="Orphanet:96180", source="Orphanet:96180/attributed", source="Orphanet:96180/ntbt"} +xref: icd11.foundation:358848660 {source="MONDO:equivalentTo"} xref: Orphanet:96180 {source="MONDO:equivalentTo"} xref: SCTID:766238001 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -425348,6 +428534,7 @@ synonym: "maternal uniparental disomy of chromosome type 6" EXACT [MONDORULE:1, synonym: "UPD(6)mat" EXACT [Orphanet:96181] xref: GARD:19333 {source="Orphanet:96181"} xref: ICD10CM:Q99.8 {source="Orphanet:96181", source="Orphanet:96181/attributed", source="Orphanet:96181/ntbt"} +xref: icd11.foundation:423779048 {source="MONDO:equivalentTo"} xref: Orphanet:96181 {source="MONDO:equivalentTo"} xref: SCTID:766239009 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -425385,6 +428572,7 @@ synonym: "maternal uniparental disomy of chromosome type 9" EXACT [MONDORULE:1, synonym: "UPD(9)mat" EXACT [Orphanet:96183] xref: GARD:19335 {source="Orphanet:96183"} xref: ICD10CM:Q99.8 {source="Orphanet:96183", source="Orphanet:96183/attributed", source="Orphanet:96183/ntbt"} +xref: icd11.foundation:102102686 {source="MONDO:equivalentTo"} xref: Orphanet:96183 {source="MONDO:equivalentTo"} xref: SCTID:766240006 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -425403,6 +428591,7 @@ synonym: "maternal uniparental disomy of chromosome type 14" EXACT [MONDORULE:2, synonym: "UPD(14)mat" EXACT [Orphanet:96184] xref: GARD:16848 {source="Orphanet:96184"} xref: ICD10CM:Q99.8 {source="Orphanet:96184/attributed", source="Orphanet:96184/ntbt", source="Orphanet:96184"} +xref: icd11.foundation:171193570 {source="MONDO:equivalentTo"} xref: Orphanet:96184 {source="MONDO:equivalentTo"} is_a: MONDO:0014541 {source="Orphanet:96184"} ! motor developmental delay due to 14q32.2 paternally expressed gene defect is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -425420,6 +428609,7 @@ synonym: "maternal uniparental disomy of chromosome type 16" EXACT [MONDORULE:2, synonym: "UPD(16)mat" EXACT [Orphanet:96185] xref: GARD:19336 {source="Orphanet:96185"} xref: ICD10CM:Q99.8 {source="Orphanet:96185/attributed", source="Orphanet:96185/ntbt", source="Orphanet:96185"} +xref: icd11.foundation:635736420 {source="MONDO:equivalentTo"} xref: Orphanet:96185 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy relationship: disease_arises_from_structure CHR:9606-chr16 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 16 (Human) @@ -425442,6 +428632,7 @@ synonym: "UPD(20)mat" EXACT [Orphanet:96186] xref: DOID:0111714 {source="MONDO:equivalentTo"} xref: GARD:16849 {source="Orphanet:96186"} xref: ICD10CM:Q99.8 {source="Orphanet:96186/attributed", source="Orphanet:96186/ntbt", source="Orphanet:96186"} +xref: icd11.foundation:700797720 {source="MONDO:equivalentTo"} xref: OMIM:617352 {source="MONDO:equivalentTo", source="Orphanet:96186"} xref: Orphanet:96186 {source="MONDO:equivalentTo", source="OMIM:617352"} xref: SCTID:715735007 {source="MONDO:equivalentTo"} @@ -425461,6 +428652,7 @@ synonym: "maternal uniparental disomy of chromosome type 21" EXACT [MONDORULE:2, synonym: "UPD(21)mat" EXACT [Orphanet:96187] xref: GARD:19337 {source="Orphanet:96187"} xref: ICD10CM:Q99.8 {source="Orphanet:96187/attributed", source="Orphanet:96187/ntbt", source="Orphanet:96187"} +xref: icd11.foundation:553200266 {source="MONDO:equivalentTo"} xref: Orphanet:96187 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy relationship: disease_arises_from_structure CHR:9606-chr21 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 21 (Human) @@ -425477,6 +428669,7 @@ synonym: "maternal uniparental disomy of chromosome type 22" EXACT [MONDORULE:2, synonym: "UPD(22)mat" EXACT [Orphanet:96188] xref: GARD:19338 {source="Orphanet:96188"} xref: ICD10CM:Q99.8 {source="Orphanet:96188", source="Orphanet:96188/attributed", source="Orphanet:96188/ntbt"} +xref: icd11.foundation:752412918 {source="MONDO:equivalentTo"} xref: Orphanet:96188 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy relationship: disease_arises_from_structure CHR:9606-chr22 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 22 (Human) @@ -425494,6 +428687,7 @@ synonym: "paternal uniparental disomy of chromosome type 5" EXACT [MONDORULE:1, synonym: "UPD(5)pat" EXACT [Orphanet:96190] xref: GARD:19339 {source="Orphanet:96190"} xref: ICD10CM:Q99.8 {source="Orphanet:96190", source="Orphanet:96190/attributed", source="Orphanet:96190/ntbt"} +xref: icd11.foundation:1224981751 {source="MONDO:equivalentTo"} xref: Orphanet:96190 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy relationship: disease_arises_from_structure CHR:9606-chr5 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 5 (Human) @@ -425511,6 +428705,7 @@ synonym: "paternal uniparental disomy of chromosome type 6" EXACT [MONDORULE:1, synonym: "UPD(6)pat" EXACT [Orphanet:96191] xref: GARD:19340 {source="Orphanet:96191"} xref: ICD10CM:Q99.8 {source="Orphanet:96191", source="Orphanet:96191/attributed", source="Orphanet:96191/ntbt"} +xref: icd11.foundation:1267556610 {source="MONDO:equivalentTo"} xref: Orphanet:96191 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy relationship: disease_arises_from_structure CHR:9606-chr6 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 6 (Human) @@ -425528,6 +428723,7 @@ synonym: "paternal uniparental disomy of chromosome type 7" EXACT [MONDORULE:1, synonym: "UPD(7)pat" EXACT [Orphanet:96192] xref: GARD:19341 {source="Orphanet:96192"} xref: ICD10CM:Q99.8 {source="Orphanet:96192", source="Orphanet:96192/attributed", source="Orphanet:96192/ntbt"} +xref: icd11.foundation:1517671165 {source="MONDO:equivalentTo"} xref: Orphanet:96192 {source="MONDO:equivalentTo"} xref: SCTID:766721001 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -425567,6 +428763,7 @@ synonym: "paternal UPD20" EXACT [Orphanet:96194] synonym: "UPD(20)pat" EXACT [Orphanet:96194] xref: GARD:19343 {source="Orphanet:96194"} xref: ICD10CM:Q99.8 {source="Orphanet:96194", source="Orphanet:96194/attributed", source="Orphanet:96194/ntbt"} +xref: icd11.foundation:1406068218 {source="MONDO:equivalentTo"} xref: Orphanet:96194 {source="MONDO:equivalentTo"} xref: SCTID:715736008 {source="MONDO:equivalentTo"} xref: UMLS:C4275028 {source="MONDO:equivalentTo"} @@ -425586,6 +428783,7 @@ synonym: "paternal uniparental disomy of chromosome type 21" EXACT [MONDORULE:2, synonym: "UPD(21)pat" EXACT [Orphanet:96195] xref: GARD:19344 {source="Orphanet:96195"} xref: ICD10CM:Q99.8 {source="Orphanet:96195/attributed", source="Orphanet:96195/ntbt", source="Orphanet:96195"} +xref: icd11.foundation:2038740231 {source="MONDO:equivalentTo"} xref: Orphanet:96195 {source="MONDO:equivalentTo"} xref: SCTID:766720000 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -425860,6 +429058,7 @@ subset: rare synonym: "Isochromosome type Y" EXACT [MONDORULE:1, Orphanet:96325] xref: GARD:19349 {source="Orphanet:96325"} xref: ICD10CM:Q98.6 {source="Orphanet:96325/attributed", source="Orphanet:96325/ntbt", source="Orphanet:96325"} +xref: icd11.foundation:939997307 {source="MONDO:equivalentTo"} xref: Orphanet:96325 {source="MONDO:equivalentTo"} is_a: MONDO:0700028 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome Y disorder @@ -425993,6 +429192,7 @@ synonym: "freeman-Sheldon syndrome variant" RELATED EXCLUDE [DOID:0050646] xref: DOID:0050646 {source="MONDO:equivalentTo"} xref: GARD:786 {source="Orphanet:97120"} xref: ICD10CM:Q68.8 {source="Orphanet:97120/attributed", source="Orphanet:97120/ntbt", source="Orphanet:97120"} +xref: icd11.foundation:1265239690 {source="MONDO:equivalentTo"} xref: OMIMPS:108120 {source="MONDO:equivalentTo"} xref: Orphanet:1147 {source="DOID:0050646"} xref: Orphanet:97120 {source="MONDO:equivalentTo", source="GARD:0000786", source="DOID:0050646"} @@ -426034,6 +429234,7 @@ subset: rare synonym: "Eisenmenger's syndrome" EXACT [NCIT:C84390] xref: GARD:6323 {source="Orphanet:97214"} xref: ICD10CM:I27.2 {source="Orphanet:97214", source="Orphanet:97214/ntbt"} +xref: icd11.foundation:581886860 {source="MONDO:equivalentTo"} xref: MedDRA:10058554 {source="Orphanet:97214", source="Orphanet:97214/e"} xref: MESH:D004541 {source="MONDO:equivalentTo"} xref: NCIT:C84390 {source="MONDO:equivalentTo"} @@ -426056,6 +429257,7 @@ subset: orphanet_rare {source="Orphanet:97230"} subset: rare xref: GARD:19353 {source="Orphanet:97230"} xref: ICD10CM:L56.3 {source="Orphanet:97230/e", source="MONDO:equivalentTo", source="Orphanet:97230"} +xref: icd11.foundation:64163683 {source="MONDO:equivalentTo"} xref: ICD9:708.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10041307 {source="Orphanet:97230/e", source="Orphanet:97230"} xref: Orphanet:97230 {source="MONDO:equivalentTo"} @@ -426115,6 +429317,7 @@ subset: rare xref: DOID:0080090 {source="MONDO:equivalentTo"} xref: GARD:12162 {source="Orphanet:97239"} xref: ICD10CM:G71.2 {source="Orphanet:97239", source="Orphanet:97239/attributed", source="Orphanet:97239/ntbt"} +xref: icd11.foundation:397698784 {source="MONDO:equivalentTo"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:97239 {source="MONDO:equivalentTo"} xref: SCTID:42779002 {source="MONDO:equivalentTo"} @@ -426132,6 +429335,7 @@ subset: orphanet_rare {source="Orphanet:97240"} subset: rare xref: GARD:19354 {source="Orphanet:97240"} xref: ICD10CM:G71.2 {source="Orphanet:97240/attributed", source="Orphanet:97240/ntbt", source="Orphanet:97240"} +xref: icd11.foundation:1699813614 {source="MONDO:equivalentTo"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:97240 {source="MONDO:equivalentTo"} xref: SCTID:34513009 {source="MONDO:equivalentTo"} @@ -426156,6 +429360,7 @@ xref: EFO:0006819 {source="MONDO:equivalentTo"} xref: GARD:9138 {source="Orphanet:97242"} xref: ICD10CM:G71.2 {source="Orphanet:97242/ntbt", source="Orphanet:97242/inclusion", source="Orphanet:97242"} xref: icd11.foundation:396687076 {source="MONDO:equivalentTo", source="Orphanet:97242"} +xref: icd11.foundation:396687076 {source="MONDO:equivalentTo"} xref: ICD9:359.0 {source="DOID:0050557"} xref: Orphanet:97242 {source="DOID:0050557", source="MONDO:equivalentTo"} xref: SCTID:111501005 {source="DOID:0050557"} @@ -426185,6 +429390,7 @@ synonym: "rigid spine congenital muscular dystrophy" EXACT [Orphanet:97244] synonym: "rigid spine muscular dystrophy-1" RELATED [GARD:0004723] xref: GARD:4723 {source="Orphanet:97244"} xref: ICD10CM:G71.2 {source="Orphanet:97244", source="Orphanet:97244/attributed", source="Orphanet:97244/ntbt"} +xref: icd11.foundation:801727141 {source="MONDO:equivalentTo"} xref: MESH:C535683 {source="Orphanet:97244", source="MONDO:equivalentTo", source="Orphanet:97244/e"} xref: Orphanet:97244 {source="MONDO:equivalentTo"} is_a: MONDO:0016187 {source="Orphanet:97244"} ! qualitative or quantitative defects of desmin @@ -426292,6 +429498,7 @@ synonym: "Growth hormone releasing factor tumor" EXACT [Orphanet:97261] synonym: "Growth hormone releasing factor tumour" EXACT OMO:0003005 [] xref: GARD:19356 {source="Orphanet:97261"} xref: ICD10CM:E16.8 {source="Orphanet:97261", source="Orphanet:97261/ntbt"} +xref: icd11.foundation:1245945716 {source="MONDO:equivalentTo"} xref: Orphanet:97261 {source="MONDO:equivalentTo"} xref: UMLS:CN206877 {source="MONDO:equivalentTo"} is_a: MONDO:0019954 {source="Orphanet:97261", source="Orphanet:97261/inferred"} ! pancreatic neuroendocrine tumor @@ -426344,6 +429551,7 @@ synonym: "pancreatic polypeptide tumour" EXACT OMO:0003005 [] synonym: "pancreatic polypeptidoma" EXACT [Orphanet:97278] xref: GARD:19358 {source="Orphanet:97278"} xref: ICD10CM:E16.8 {source="Orphanet:97278", source="Orphanet:97278/ntbt"} +xref: icd11.foundation:1180851464 {source="MONDO:equivalentTo"} xref: ICD9:239.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8152/1 {source="NCIT:C67453"} xref: NCIT:C67453 {source="MONDO:equivalentTo"} @@ -426373,6 +429581,8 @@ synonym: "pancreatic glucagonoma" EXACT [NCIT:C95597] xref: EFO:1000441 {source="MONDO:equivalentTo"} xref: GARD:2496 {source="Orphanet:97280"} xref: ICD10CM:E16.8 {source="Orphanet:97280", source="Orphanet:97280/ntbt"} +xref: icd11.foundation:1918063179 {source="MONDO:equivalentTo"} +xref: icd11.foundation:435981568 {source="MONDO:equivalentTo"} xref: MedDRA:10018404 {source="Orphanet:97280", source="Orphanet:97280/e"} xref: MESH:D005935 {source="MONDO:equivalentTo", source="Orphanet:97280", source="Orphanet:97280/e"} xref: NCIT:C95597 {source="MONDO:equivalentTo"} @@ -426425,6 +429635,8 @@ xref: DOID:5574 {source="MONDO:equivalentTo"} xref: EFO:1000622 {source="MONDO:equivalentTo"} xref: GARD:3787 {source="Orphanet:97282"} xref: ICD10CM:E16.8 {source="Orphanet:97282/ntbt", source="Orphanet:97282"} +xref: icd11.foundation:1712002145 {source="MONDO:equivalentTo"} +xref: icd11.foundation:20634476 {source="MONDO:equivalentTo"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8155/1 {source="NCIT:C26749"} xref: MedDRA:10047430 {source="Orphanet:97282/e", source="Orphanet:97282"} @@ -426463,6 +429675,7 @@ synonym: "thyroid gland lymphoma" EXACT [MONDO:patterns/location, NCIT:C5265] synonym: "thyroid lymphoma" EXACT [NCIT:C5265] xref: DOID:10011 {source="MONDO:equivalentTo"} xref: GARD:19359 {source="Orphanet:97285"} +xref: icd11.foundation:571063415 {source="MONDO:equivalentTo"} xref: NCIT:C5265 {source="MONDO:equivalentTo", source="DOID:10011"} xref: Orphanet:97285 {source="MONDO:equivalentTo"} xref: UMLS:C1336753 {source="NCIT:C5265", source="MONDO:equivalentTo", source="DOID:10011"} @@ -426603,6 +429816,7 @@ synonym: "aseptic necrosis of patella" EXACT [Orphanet:97337] synonym: "Osteochondrosis of patella" EXACT [Orphanet:97337] xref: GARD:19366 {source="Orphanet:97337"} xref: ICD10CM:M92.4 {source="Orphanet:97337/ntbt", source="Orphanet:97337"} +xref: icd11.foundation:1733785551 {source="MONDO:equivalentTo"} xref: MedDRA:10063585 {source="Orphanet:97337", source="Orphanet:97337/e"} xref: Orphanet:97337 {source="MONDO:equivalentTo"} xref: UMLS:C0264096 {source="Orphanet:97337", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:97337/e"} @@ -426636,6 +429850,7 @@ synonym: "cranial dural arteriovenous fistula" EXACT [Orphanet:97339] synonym: "cranial dural arteriovenous malformations" EXACT [Orphanet:97339] xref: GARD:19368 {source="Orphanet:97339"} xref: ICD10CM:Q28.3 {source="Orphanet:97339", source="Orphanet:97339/ntbt"} +xref: icd11.foundation:454640405 {source="MONDO:equivalentTo"} xref: Orphanet:97339 {source="MONDO:equivalentTo"} is_a: MONDO:0001256 {source="Orphanet:97339"} ! arteriovenous hemangioma/malformation relationship: has_characteristic MONDO:0021136 {source="MONDO:0016234"} ! rare @@ -426650,6 +429865,7 @@ subset: ordo_disease {source="Orphanet:97341"} subset: orphanet_rare {source="Orphanet:97341"} subset: rare xref: GARD:19369 {source="Orphanet:97341"} +xref: icd11.foundation:1143591468 {source="MONDO:equivalentTo"} xref: Orphanet:97341 {source="MONDO:equivalentTo"} xref: SCTID:719297006 {source="MONDO:equivalentTo"} xref: UMLS:C4304823 {source="MONDO:equivalentTo"} @@ -426679,6 +429895,7 @@ xref: EFO:0008570 {source="MONDO:equivalentTo"} xref: GARD:10014 {source="Orphanet:97352"} xref: ICD10CM:E52 {source="DOID:8457", source="Orphanet:97352/e", source="Orphanet:97352"} xref: icd11.foundation:1108993080 {source="MONDO:equivalentTo", source="Orphanet:97352"} +xref: icd11.foundation:1108993080 {source="MONDO:equivalentTo"} xref: ICD9:265.2 {source="DOID:8457"} xref: MedDRA:10029400 {source="Orphanet:97352/e", source="Orphanet:97352"} xref: MESH:D010383 {source="DOID:8457", source="Orphanet:97352/e", source="MONDO:equivalentTo", source="Orphanet:97352"} @@ -426728,6 +429945,7 @@ subset: rare xref: GARD:19372 {source="Orphanet:97355"} xref: ICD10EXP:F02.3* {source="Orphanet:97355", source="Orphanet:97355/ntbt"} xref: ICD10EXP:G20+ {source="Orphanet:97355", source="Orphanet:97355/ntbt"} +xref: icd11.foundation:773801248 {source="MONDO:equivalentTo"} xref: Orphanet:97355 {source="MONDO:equivalentTo"} xref: SCTID:715737004 {source="MONDO:equivalentTo"} xref: UMLS:C4275027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -426755,6 +429973,7 @@ synonym: "Robinow-Silverman-Smith syndrome" EXACT [Orphanet:97360] xref: DOID:0060254 {source="MONDO:equivalentTo"} xref: GARD:312 {source="Orphanet:97360"} xref: ICD10CM:Q87.1 {source="DOID:0060254", source="Orphanet:97360/inclusion", source="Orphanet:97360", source="Orphanet:97360/ntbt"} +xref: icd11.foundation:1010745722 {source="MONDO:equivalentTo"} xref: MESH:C562492 {source="DOID:0060254"} xref: NCIT:C85048 {source="DOID:0060254", source="MONDO:equivalentTo"} xref: NORD:1673 {source="MONDO:NORD"} @@ -426870,6 +430089,7 @@ subset: orphanet_rare {source="Orphanet:97367"} subset: rare xref: GARD:19377 {source="Orphanet:97367"} xref: ICD10CM:Q63.8 {source="Orphanet:97367/ntbt", source="Orphanet:97367"} +xref: icd11.foundation:122234138 {source="MONDO:equivalentTo"} xref: Orphanet:97367 {source="MONDO:equivalentTo"} xref: UMLS:CN206914 {source="MONDO:equivalentTo"} is_a: MONDO:0017609 {source="Orphanet:97367"} ! renal tubular dysgenesis @@ -426999,6 +430219,7 @@ subset: rare xref: DOID:4184 {source="MONDO:equivalentTo"} xref: GARD:10758 {source="Orphanet:97593"} xref: ICD10CM:E20.1 {source="Orphanet:97593/e", source="Orphanet:97593/specific", source="MONDO:equivalentTo", source="Orphanet:97593", source="DOID:4184"} +xref: icd11.foundation:1225154856 {source="MONDO:equivalentTo"} xref: icd11.foundation:1225154856 {source="MONDO:equivalentTo", source="Orphanet:97593"} xref: ICD9:275.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10037126 {source="Orphanet:97593/e", source="Orphanet:97593"} @@ -427032,6 +430253,7 @@ synonym: "congenital renovascular hypoplasia" EXACT [Orphanet:97598] xref: GARD:19381 {source="Orphanet:97598"} xref: ICD10CM:Q27.1 {source="Orphanet:97598", source="MONDO:equivalentTo", source="Orphanet:97598/e"} xref: icd11.foundation:856359002 {source="Orphanet:97598", source="MONDO:equivalentTo"} +xref: icd11.foundation:856359002 {source="MONDO:equivalentTo"} xref: Orphanet:97598 {source="MONDO:equivalentTo"} xref: SCTID:271432005 {source="MONDO:equivalentTo"} xref: UMLS:C0495523 {source="Orphanet:97598", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:97598/e"} @@ -427052,6 +430274,7 @@ synonym: "maternal uniparental disomy of chromosome type 13" EXACT [MONDORULE:2, synonym: "UPD(13)mat" EXACT [Orphanet:97678] xref: GARD:19382 {source="Orphanet:97678"} xref: ICD10CM:Q99.8 {source="Orphanet:97678/attributed", source="Orphanet:97678/ntbt", source="Orphanet:97678"} +xref: icd11.foundation:729188840 {source="MONDO:equivalentTo"} xref: Orphanet:97678 {source="MONDO:equivalentTo"} xref: UMLS:C4722325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy @@ -427858,6 +431081,7 @@ synonym: "agenesis of the internal carotid artery" RELATED [GARD:0003012] synonym: "internal carotid artery agenesis" RELATED [GARD:0003012] xref: GARD:3012 {source="Orphanet:981"} xref: ICD10CM:Q28.1 {source="Orphanet:981/ntbt", source="Orphanet:981"} +xref: icd11.foundation:368564890 {source="MONDO:equivalentTo"} xref: Orphanet:981 {source="MONDO:equivalentTo"} xref: SCTID:722004001 {source="MONDO:equivalentTo"} is_a: MONDO:0005385 {source="https://orcid.org/0000-0002-4142-7153"} ! vascular disorder @@ -428176,6 +431400,7 @@ xref: DOID:13359 {source="MONDO:equivalentTo"} xref: GARD:6322 {source="Orphanet:98249"} xref: ICD10CM:Q79.6 {source="DOID:13359", source="Orphanet:98249", source="MONDO:equivalentTo", source="Orphanet:98249/specific", source="Orphanet:98249/e"} xref: icd11.foundation:1122707206 {source="Orphanet:98249", source="MONDO:equivalentTo"} +xref: icd11.foundation:1122707206 {source="MONDO:equivalentTo"} xref: ICD9:756.83 {source="DOID:13359", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10014316 {source="Orphanet:98249", source="Orphanet:98249/e"} xref: MESH:D004535 {source="DOID:13359", source="Orphanet:98249", source="MONDO:equivalentTo", source="Orphanet:98249/e"} @@ -428613,6 +431838,7 @@ synonym: "lipodystrophy, familial partial" EXACT [OMIMPS:151660] xref: DOID:0050440 {source="MONDO:equivalentTo"} xref: GARD:11962 {source="Orphanet:98306"} xref: ICD10CM:E88.1 {source="Orphanet:98306", source="Orphanet:98306/attributed", source="Orphanet:98306/ntbt"} +xref: icd11.foundation:1661968243 {source="MONDO:equivalentTo"} xref: MESH:D052496 {source="DOID:0050440", source="MONDO:equivalentTo", source="Orphanet:98306", source="Orphanet:98306/e"} xref: NCIT:C84708 {source="DOID:0050440", source="MONDO:equivalentTo"} xref: NORD:1131 {source="MONDO:NORD"} @@ -428869,6 +432095,7 @@ subset: rare synonym: "hereditary stomatocytic disease" EXACT [Orphanet:98365] xref: GARD:19456 {source="Orphanet:98365"} xref: ICD10CM:D58.8 {source="Orphanet:98365/specific", source="Orphanet:98365/e", source="Orphanet:98365"} +xref: icd11.foundation:2067120097 {source="MONDO:equivalentTo"} xref: ICD9:282.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:98365 {source="MONDO:equivalentTo"} xref: SCTID:14087004 {source="MONDO:equivalentTo"} @@ -429255,6 +432482,7 @@ subset: rare xref: DOID:9884 {source="MONDO:equivalentTo"} xref: GARD:7922 {source="Orphanet:98473"} xref: ICD10CM:G71.0 {source="Orphanet:98473/e", source="Orphanet:98473/specific", source="MONDO:equivalentTo", source="Orphanet:98473", source="DOID:9884"} +xref: icd11.foundation:1464662404 {source="MONDO:equivalentTo"} xref: icd11.foundation:1464662404 {source="MONDO:equivalentTo", source="Orphanet:98473"} xref: ICD9:359.1 {source="DOID:9884"} xref: MedDRA:10028356 {source="Orphanet:98473/e", source="Orphanet:98473"} @@ -429535,6 +432763,7 @@ synonym: "pontoneocerebllar hypoplasia" EXACT [Orphanet:98523] xref: DOID:0060264 {source="MONDO:equivalentTo"} xref: GARD:10977 {source="Orphanet:98523"} xref: ICD10CM:Q04.3 {source="Orphanet:98523", source="Orphanet:98523/attributed", source="Orphanet:98523/ntbt"} +xref: icd11.foundation:1565266279 {source="MONDO:equivalentTo"} xref: icd11.foundation:1565266279 {source="Orphanet:98523", source="MONDO:equivalentTo"} xref: MESH:C580383 {source="DOID:0060264", source="MONDO:equivalentTo"} xref: NORD:1596 {source="MONDO:NORD"} @@ -429793,6 +433022,7 @@ subset: rare synonym: "cryptophthalmos" EXACT [NCIT:C124520] xref: DOID:0111716 {source="MONDO:equivalentTo"} xref: GARD:10505 {source="Orphanet:98562"} +xref: icd11.foundation:740223582 {source="MONDO:equivalentTo"} xref: icd11.foundation:740223582 {source="MONDO:equivalentTo", source="Orphanet:98562"} xref: ICD9:743.06 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C124520 {source="MONDO:equivalentTo"} @@ -429870,6 +433100,7 @@ subset: ordo_group_of_disorders {source="Orphanet:98568"} subset: orphanet_rare {source="Orphanet:98568"} subset: rare xref: ICD10CM:Q10.2 +xref: icd11.foundation:1290880184 {source="MONDO:equivalentTo"} xref: MedDRA:10014923 {source="Orphanet:98568", source="Orphanet:98568/e"} xref: Orphanet:98568 {source="MONDO:equivalentObsolete"} xref: SCTID:20392000 {source="MONDO:equivalentTo"} @@ -429900,6 +433131,7 @@ subset: rare xref: GARD:19502 {source="Orphanet:98570"} xref: ICD10CM:Q10.1 {source="Orphanet:98570/e", source="Orphanet:98570/specific", source="MONDO:equivalentTo", source="Orphanet:98570"} xref: icd11.foundation:945558601 {source="MONDO:equivalentTo", source="Orphanet:98570"} +xref: icd11.foundation:945558601 {source="MONDO:equivalentTo"} xref: Orphanet:98570 {source="MONDO:equivalentTo"} xref: SCTID:26590002 {source="MONDO:equivalentTo"} xref: UMLS:C0266578 {source="Orphanet:98570/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98570"} @@ -430596,6 +433828,7 @@ synonym: "substantia propria of cornea corneal dystrophy (disease)" EXACT [MONDO xref: DOID:0060442 {source="MONDO:equivalentTo"} xref: GARD:19519 {source="Orphanet:98626"} xref: ICD10CM:H18.5 {source="Orphanet:98626", source="Orphanet:98626/attributed", source="Orphanet:98626/ntbt"} +xref: icd11.foundation:1392780216 {source="MONDO:equivalentTo"} xref: ICD9:371.56 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:98626 {source="MONDO:equivalentTo"} xref: SCTID:231931001 {source="MONDO:equivalentTo"} @@ -430616,6 +433849,7 @@ subset: orphanet_rare {source="Orphanet:98627"} subset: rare xref: GARD:19520 {source="Orphanet:98627"} xref: ICD10CM:H18.5 {source="Orphanet:98627", source="Orphanet:98627/attributed", source="Orphanet:98627/ntbt"} +xref: icd11.foundation:570101963 {source="MONDO:equivalentTo"} xref: ICD9:371.58 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:98627 {source="MONDO:equivalentTo"} xref: SCTID:35091000119101 {source="MONDO:equivalentTo"} @@ -431051,6 +434285,7 @@ subset: orphanet_rare {source="Orphanet:98669"} subset: rare synonym: "vitreoretinal dysplasia" EXACT [] xref: ICD10CM:Q14.1 {source="Orphanet:98669", source="Orphanet:98669/attributed", source="Orphanet:98669/ntbt"} +xref: icd11.foundation:44221751 {source="MONDO:equivalentTo"} xref: ICD9:743.56 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:98669 {source="MONDO:equivalentObsolete"} xref: SCTID:449866003 {source="MONDO:equivalentTo"} @@ -431086,6 +434321,7 @@ subset: ordo_group_of_disorders {source="Orphanet:98671"} subset: orphanet_rare {source="Orphanet:98671"} subset: rare xref: GARD:19540 {source="Orphanet:98671"} +xref: icd11.foundation:2452831 {source="MONDO:equivalentTo"} xref: icd11.foundation:2452831 {source="MONDO:equivalentTo", source="Orphanet:98671"} xref: MedDRA:10061323 {source="Orphanet:98671/e", source="Orphanet:98671"} xref: Orphanet:98671 {source="MONDO:equivalentTo"} @@ -431815,6 +435051,7 @@ synonym: "ADNFLE" EXACT ABBREVIATION [Orphanet:98784] synonym: "ENFL" EXACT ABBREVIATION [DOID:0060681] xref: DOID:0060681 {source="MONDO:equivalentTo"} xref: GARD:11918 {source="Orphanet:98784"} +xref: icd11.foundation:1004734747 {source="MONDO:equivalentTo"} xref: ICD9:345.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C579932 {source="MONDO:equivalentTo"} xref: Orphanet:98784 {source="DOID:0060681", source="MONDO:equivalentTo"} @@ -431980,6 +435217,7 @@ synonym: "familial partial epilepsy with variable foci" EXACT [Orphanet:98820] synonym: "FFEVF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604364, Orphanet:98820] xref: DOID:0081420 {source="MONDO:equivalentTo"} xref: GARD:13295 {source="Orphanet:98820"} +xref: icd11.foundation:855404450 {source="MONDO:equivalentTo"} xref: MESH:C565785 {source="MONDO:equivalentTo"} xref: OMIMPS:604364 {source="MONDO:equivalentTo"} xref: Orphanet:98820 {source="MONDO:equivalentTo", source="OMIM:604364"} @@ -432081,6 +435319,7 @@ synonym: "AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)" RELATED [GARD:00005 synonym: "CBFB-MYH11" RELATED [GARD:0000536] xref: GARD:536 {source="Orphanet:98829"} xref: ICD10CM:C92.5 {source="Orphanet:98829/e", source="Orphanet:98829"} +xref: icd11.foundation:808954959 {source="MONDO:equivalentTo"} xref: Orphanet:98829 {source="MONDO:equivalentTo"} xref: UMLS:C0023479 {source="MONDO:relatedTo", source="GARD:0000536"} is_a: MONDO:0018874 {source="Orphanet:98829"} ! acute myeloid leukemia @@ -432275,6 +435514,7 @@ xref: GARD:19589 {source="Orphanet:98838"} xref: ICD10CM:C83.3 {source="Orphanet:98838/ntbt", source="Orphanet:98838"} xref: ICD10CM:C85.2 {source="DOID:0080210"} xref: icd11.foundation:950282079 {source="MONDO:equivalentTo", source="Orphanet:98838"} +xref: icd11.foundation:950282079 {source="MONDO:equivalentTo"} xref: ICDO:9679/3 {source="NCIT:C9280"} xref: MedDRA:10036710 {source="Orphanet:98838/e", source="Orphanet:98838"} xref: NCIT:C9280 {source="MONDO:equivalentTo"} @@ -432307,6 +435547,8 @@ synonym: "Tappeiner-Pfleger disease" EXACT [Orphanet:98839] xref: DOID:0081311 {source="MONDO:equivalentTo"} xref: GARD:19590 {source="Orphanet:98839"} xref: ICD10CM:C83.3 {source="Orphanet:98839", source="Orphanet:98839/ntbt"} +xref: icd11.foundation:85486467 {source="MONDO:equivalentTo"} +xref: icd11.foundation:952730197 {source="MONDO:equivalentTo"} xref: icd11.foundation:952730197 {source="MONDO:equivalentTo", source="Orphanet:98839"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9712/3 {source="NCIT:C4342"} @@ -432371,6 +435613,7 @@ synonym: "LyP" EXACT [Orphanet:98842] xref: EFO:1000341 {source="MONDO:equivalentTo"} xref: GARD:6944 {source="Orphanet:98842"} xref: ICD10CM:C86.6 {source="Orphanet:98842", source="Orphanet:98842/e"} +xref: icd11.foundation:1791207220 {source="MONDO:equivalentTo"} xref: icd11.foundation:1791207220 {source="Orphanet:98842", source="MONDO:equivalentTo"} xref: ICD9:447.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9718/1 {source="NCIT:C3721"} @@ -432441,6 +435684,8 @@ synonym: "ism" EXACT [DOID:4660, NCIT:C9286, ONCOTREE:ISM] xref: DOID:4660 {source="MONDO:equivalentTo"} xref: GARD:19595 {source="Orphanet:98848"} xref: ICD10CM:D47.0 {source="Orphanet:98848", source="Orphanet:98848/ntbt", source="DOID:4660"} +xref: icd11.foundation:353283231 {source="MONDO:equivalentTo"} +xref: icd11.foundation:970496059 {source="MONDO:equivalentTo"} xref: ICDO:9741/1 {source="NCIT:C9286"} xref: MedDRA:10056452 {source="Orphanet:98848", source="Orphanet:98848/e"} xref: MESH:D034721 {source="DOID:4660"} @@ -432505,6 +435750,8 @@ synonym: "lymphadenopathic mastocytosis with eosinophilia" EXACT [DOID:4798] xref: DOID:4798 {source="MONDO:equivalentTo"} xref: GARD:19597 {source="Orphanet:98850"} xref: ICD10CM:C96.2 {source="Orphanet:98850", source="DOID:4798", source="Orphanet:98850/ntbt"} +xref: icd11.foundation:377330181 {source="MONDO:equivalentTo"} +xref: icd11.foundation:870477963 {source="MONDO:equivalentTo"} xref: ICDO:9741/3 {source="NCIT:C9285"} xref: MedDRA:10056453 {source="Orphanet:98850", source="Orphanet:98850/e"} xref: MESH:D034721 {source="DOID:4798"} @@ -432665,6 +435912,7 @@ subset: rare xref: DOID:0080924 {source="MONDO:equivalentTo"} xref: GARD:6011 {source="Orphanet:98889"} xref: ICD10CM:Q04.3 {source="Orphanet:98889", source="Orphanet:98889/attributed", source="Orphanet:98889/ntbt"} +xref: icd11.foundation:1882677643 {source="MONDO:equivalentTo"} xref: Orphanet:98889 {source="MONDO:equivalentTo"} xref: UMLS:C1845668 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98889"} is_a: MONDO:0017091 {source="Orphanet:98889"} ! bilateral polymicrogyria @@ -432683,6 +435931,7 @@ synonym: "periventricular nodular heterotopia" EXACT CLINGEN_LABEL [] xref: DOID:0050454 {source="MONDO:equivalentTo"} xref: GARD:12724 {source="Orphanet:98892"} xref: ICD10CM:Q04.8 {source="Orphanet:98892/attributed", source="Orphanet:98892/ntbt", source="Orphanet:98892"} +xref: icd11.foundation:20200096 {source="MONDO:equivalentTo"} xref: MedDRA:10066854 {source="Orphanet:98892/e", source="Orphanet:98892"} xref: MESH:D054091 {source="DOID:0050454", source="Orphanet:98892/e", source="MONDO:equivalentTo", source="Orphanet:98892"} xref: OMIMPS:300049 {source="MONDO:equivalentTo"} @@ -432843,6 +436092,7 @@ synonym: "acute pure motor Guillain-Barré syndrome" EXACT [Orphanet:98918] synonym: "AMAN" EXACT ABBREVIATION [Orphanet:98918] xref: GARD:19602 {source="Orphanet:98918"} xref: ICD10CM:G61.0 {source="Orphanet:98918/ntbt", source="Orphanet:98918"} +xref: icd11.foundation:745197078 {source="MONDO:equivalentTo"} xref: NCIT:C116929 {source="MONDO:equivalentTo"} xref: Orphanet:98918 {source="MONDO:equivalentTo"} xref: SCTID:715770009 {source="MONDO:equivalentTo"} @@ -432897,6 +436147,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:98941"} subset: orphanet_rare {source="Orphanet:98941"} subset: rare xref: ICD10CM:Q13.4 {source="Orphanet:98941", source="Orphanet:98941/attributed", source="Orphanet:98941/ntbt"} +xref: icd11.foundation:1620371681 {source="MONDO:equivalentTo"} xref: Orphanet:98941 {source="MONDO:equivalentObsolete"} is_a: MONDO:0011414 {source="Orphanet:98941"} ! Peters anomaly @@ -432949,6 +436200,7 @@ synonym: "coloboma of the iris" EXACT [NCIT:C98879] xref: GARD:1434 {source="Orphanet:98944"} xref: HP:0000612 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q13.0 {source="Orphanet:98944", source="Orphanet:98944/specific", source="Orphanet:98944/e"} +xref: icd11.foundation:1552972259 {source="MONDO:equivalentTo"} xref: icd11.foundation:1552972259 {source="MONDO:equivalentTo", source="Orphanet:98944"} xref: MedDRA:10052642 {source="Orphanet:98944", source="Orphanet:98944/e"} xref: NCIT:C98879 {source="MONDO:equivalentTo"} @@ -432998,6 +436250,7 @@ subset: rare xref: DOID:0111720 {source="MONDO:equivalentTo"} xref: GARD:19606 {source="Orphanet:98948"} xref: ICD10CM:Q11.2 {source="Orphanet:98948/attributed", source="Orphanet:98948/ntbt", source="Orphanet:98948"} +xref: icd11.foundation:1595154985 {source="MONDO:equivalentTo"} xref: Orphanet:98948 {source="MONDO:equivalentTo"} xref: UMLS:C0152454 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:98948"} is_a: MONDO:0007410 {source="Orphanet:98948"} ! isolated cryptophthalmia @@ -433015,6 +436268,7 @@ subset: rare xref: DOID:0111719 {source="MONDO:equivalentTo"} xref: GARD:16876 {source="Orphanet:98949"} xref: ICD10CM:Q11.2 {source="Orphanet:98949", source="Orphanet:98949/attributed", source="Orphanet:98949/ntbt"} +xref: icd11.foundation:162797488 {source="MONDO:equivalentTo"} xref: Orphanet:98949 {source="MONDO:equivalentTo"} is_a: MONDO:0007410 {source="Orphanet:98949"} ! isolated cryptophthalmia @@ -433029,6 +436283,7 @@ subset: rare xref: DOID:0111718 {source="MONDO:equivalentTo"} xref: GARD:19607 {source="Orphanet:98950"} xref: ICD10CM:Q11.2 {source="Orphanet:98950", source="Orphanet:98950/attributed", source="Orphanet:98950/ntbt"} +xref: icd11.foundation:407675981 {source="MONDO:equivalentTo"} xref: Orphanet:98950 {source="MONDO:equivalentTo"} is_a: MONDO:0007410 {source="Orphanet:98950"} ! isolated cryptophthalmia @@ -433043,6 +436298,7 @@ subset: orphanet_rare {source="Orphanet:98951"} subset: rare xref: GARD:19608 {source="Orphanet:98951"} xref: ICD10CM:Q07.8 {source="Orphanet:98951/attributed", source="Orphanet:98951/ntbt", source="Orphanet:98951"} +xref: icd11.foundation:348052110 {source="MONDO:equivalentTo"} xref: Orphanet:98951 {source="MONDO:equivalentTo"} xref: UMLS:C5548210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0007946 {source="Orphanet:98951"} ! jaw-winking syndrome @@ -433057,6 +436313,7 @@ subset: orphanet_rare {source="Orphanet:98958"} subset: rare xref: GARD:19609 {source="Orphanet:98958"} xref: ICD10CM:H18.5 {source="Orphanet:98958", source="Orphanet:98958/ntbt"} +xref: icd11.foundation:896313309 {source="MONDO:equivalentTo"} xref: Orphanet:98958 {source="MONDO:equivalentTo"} xref: UMLS:CN207218 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 ! disease @@ -433080,6 +436337,7 @@ synonym: "Schlichting dystrophy" EXACT [DOID:0060457, Orphanet:98973] xref: DOID:0060457 {source="MONDO:equivalentTo"} xref: GARD:16882 {source="Orphanet:98973"} xref: ICD10CM:H18.5 {source="Orphanet:98973/attributed", source="Orphanet:98973/ntbt", source="Orphanet:98973", source="DOID:0060457"} +xref: icd11.foundation:935421185 {source="MONDO:equivalentTo"} xref: MESH:C562745 {source="DOID:0060457"} xref: OMIMPS:122000 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:98973 {source="DOID:0060457", source="MONDO:equivalentTo"} @@ -433173,6 +436431,7 @@ subset: orphanet_rare {source="Orphanet:98978"} subset: rare xref: GARD:16485 {source="Orphanet:98978"} xref: ICD10CM:Q15.0 {source="Orphanet:98978", source="Orphanet:98978/index", source="Orphanet:98978/ntbt"} +xref: icd11.foundation:1703498511 {source="MONDO:equivalentTo"} xref: ICD9:743.44 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10058653 {source="Orphanet:98978", source="Orphanet:98978/e"} xref: Orphanet:98978 {source="MONDO:equivalentTo"} @@ -433200,6 +436459,7 @@ xref: DOID:11554 {source="MONDO:equivalentTo"} xref: GARD:6033 {source="Orphanet:98979"} xref: ICD10CM:H18.51 {source="DOID:11554"} xref: ICD10CM:H21.2 {source="Orphanet:98979", source="Orphanet:98979/attributed", source="Orphanet:98979/ntbt"} +xref: icd11.foundation:806443940 {source="MONDO:equivalentTo"} xref: ICD9:371.57 {source="MONDO:directSiblingOf", source="DOID:11554"} xref: MedDRA:10057487 {source="Orphanet:98979", source="Orphanet:98979/e"} xref: MESH:D057129 {source="DOID:11554"} @@ -433227,6 +436487,7 @@ subset: rare xref: DOID:0060217 {source="MONDO:equivalentTo"} xref: GARD:6125 {source="Orphanet:98980"} xref: ICD10CM:H21.2 {source="Orphanet:98980/attributed", source="Orphanet:98980/ntbt", source="Orphanet:98980"} +xref: icd11.foundation:1968906450 {source="MONDO:equivalentTo"} xref: MedDRA:10059200 {source="Orphanet:98980/e", source="DOID:0060217", source="Orphanet:98980"} xref: NCIT:C84644 {source="MONDO:equivalentTo", source="DOID:0060217"} xref: Orphanet:98980 {source="MONDO:equivalentTo", source="DOID:0060217"} @@ -433301,6 +436562,7 @@ synonym: "cataract, congenital, blue dot type 1" RELATED [GARD:0009508] synonym: "cataract, congenital, cerulean type 1" RELATED [GARD:0009508] xref: GARD:9508 {source="Orphanet:98989"} xref: ICD10CM:Q12.0 {source="Orphanet:98989", source="Orphanet:98989/index", source="Orphanet:98989/ntbt"} +xref: icd11.foundation:1188848969 {source="MONDO:equivalentTo"} xref: ICD9:743.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537955 {source="MONDO:equivalentTo", source="Orphanet:98989", source="Orphanet:98989/e"} xref: Orphanet:98989 {source="MONDO:equivalentTo"} @@ -433464,6 +436726,7 @@ subset: rare synonym: "multifocal pattern dystrophy simulating Stargardt disease" EXACT [Orphanet:99003] xref: GARD:19612 {source="Orphanet:99003"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:99003/attributed", source="Orphanet:99003/ntbt", source="Orphanet:99003"} +xref: icd11.foundation:1819044742 {source="MONDO:equivalentTo"} xref: Orphanet:99003 {source="MONDO:equivalentTo"} xref: SCTID:723408004 {source="MONDO:equivalentTo"} xref: UMLS:C4509881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -433480,6 +436743,7 @@ subset: orphanet_rare {source="Orphanet:99004"} subset: rare xref: GARD:19613 {source="Orphanet:99004"} xref: ICD10CM:H35.5 {source="Orphanet:99004", source="MONDO:relatedTo", source="Orphanet:99004/attributed", source="Orphanet:99004/ntbt"} +xref: icd11.foundation:871251875 {source="MONDO:equivalentTo"} xref: Orphanet:99004 {source="MONDO:equivalentTo"} xref: UMLS:C4749286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018973 {source="Orphanet:99004"} ! patterned dystrophy of the retinal pigment epithelium @@ -433785,6 +437049,7 @@ subset: orphanet_rare {source="Orphanet:99060"} subset: rare xref: GARD:19627 {source="Orphanet:99060"} xref: ICD10CM:Q23.3 {source="Orphanet:99060", source="Orphanet:99060/ntbt"} +xref: icd11.foundation:1824064279 {source="MONDO:equivalentTo"} xref: Orphanet:99060 {source="MONDO:equivalentTo"} is_a: MONDO:0019817 {source="Orphanet:99060"} ! congenital mitral valve insufficiency and/or stenosis relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -433922,6 +437187,7 @@ subset: orphanet_rare {source="Orphanet:99070"} subset: rare xref: GARD:19632 {source="Orphanet:99070"} xref: ICD10CM:Q20.8 {source="Orphanet:99070/ntbt", source="Orphanet:99070"} +xref: icd11.foundation:1166626076 {source="MONDO:equivalentTo"} xref: Orphanet:99070 {source="MONDO:equivalentTo"} xref: UMLS:C0345055 {source="Orphanet:99070", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99070/e"} is_a: MONDO:0018082 {source="Orphanet:99070"} ! aorto-ventricular tunnel @@ -433936,6 +437202,7 @@ subset: orphanet_rare {source="Orphanet:99071"} subset: rare xref: GARD:19633 {source="Orphanet:99071"} xref: ICD10CM:Q20.8 {source="Orphanet:99071", source="Orphanet:99071/ntbt"} +xref: icd11.foundation:1781288740 {source="MONDO:equivalentTo"} xref: Orphanet:99071 {source="MONDO:equivalentTo"} xref: UMLS:C0345054 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99071", source="Orphanet:99071/e"} is_a: MONDO:0018082 {source="Orphanet:99071"} ! aorto-ventricular tunnel @@ -433986,6 +437253,7 @@ subset: orphanet_rare {source="Orphanet:99076"} subset: rare xref: GARD:19636 {source="Orphanet:99076"} xref: ICD10CM:Q25.4 {source="Orphanet:99076", source="Orphanet:99076/ntbt"} +xref: icd11.foundation:82536098 {source="MONDO:equivalentTo"} xref: Orphanet:99076 {source="MONDO:equivalentTo"} xref: UMLS:C0345066 {source="Orphanet:99076/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:99076"} is_a: MONDO:0015236 {source="Orphanet:99076"} ! aortic arch defects @@ -434035,6 +437303,7 @@ synonym: "right aortic arch (disease)" EXACT [https://orcid.org/0000-0002-6601-2 xref: GARD:19640 {source="Orphanet:99081"} xref: HP:0012020 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q25.4 {source="Orphanet:99081/ntbt", source="Orphanet:99081"} +xref: icd11.foundation:769265824 {source="MONDO:equivalentTo"} xref: MedDRA:10067407 {source="Orphanet:99081", source="Orphanet:99081/e"} xref: NCIT:C103917 {source="MONDO:equivalentTo"} xref: Orphanet:99081 {source="MONDO:equivalentTo"} @@ -434859,6 +438128,7 @@ subset: orphanet_rare {source="Orphanet:99169"} subset: rare xref: GARD:19671 {source="Orphanet:99169"} xref: ICD10CM:Q10.3 {source="Orphanet:99169", source="Orphanet:99169/index", source="Orphanet:99169/ntbt"} +xref: icd11.foundation:1757021264 {source="MONDO:equivalentTo"} xref: ICD9:743.63 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:99169 {source="MONDO:equivalentTo"} xref: SCTID:253212001 {source="MONDO:equivalentTo"} @@ -434910,6 +438180,7 @@ subset: orphanet_rare {source="Orphanet:99172"} subset: rare xref: GARD:19674 {source="Orphanet:99172"} xref: ICD10CM:Q10.1 {source="Orphanet:99172", source="Orphanet:99172/attributed", source="Orphanet:99172/ntbt"} +xref: icd11.foundation:2086603843 {source="MONDO:equivalentTo"} xref: Orphanet:99172 {source="MONDO:equivalentTo"} xref: SCTID:400954002 {source="MONDO:equivalentTo"} xref: UMLS:C1303001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -434927,6 +438198,7 @@ subset: rare xref: GARD:19675 {source="Orphanet:99176"} xref: ICD10CM:Q10.3 {source="Orphanet:99176/attributed", source="Orphanet:99176/ntbt", source="Orphanet:99176"} xref: icd11.foundation:11235593 {source="MONDO:equivalentTo", source="Orphanet:99176"} +xref: icd11.foundation:11235593 {source="MONDO:equivalentTo"} xref: Orphanet:99176 {source="MONDO:equivalentTo"} xref: SCTID:715769008 {source="MONDO:equivalentTo"} is_a: MONDO:0003382 {source="Orphanet:99176"} ! eyelid disorder @@ -434992,6 +438264,7 @@ synonym: "paternal uniparental disomy of chromosome type 13" EXACT [MONDORULE:2, synonym: "UPD(13)pat" EXACT [Orphanet:99324] xref: GARD:19678 {source="Orphanet:99324"} xref: ICD10CM:Q99.8 {source="Orphanet:99324", source="Orphanet:99324/attributed", source="Orphanet:99324/ntbt"} +xref: icd11.foundation:2090405609 {source="MONDO:equivalentTo"} xref: Orphanet:99324 {source="MONDO:equivalentTo"} is_a: MONDO:0700086 {source="https://orcid.org/0000-0002-4142-7153"} ! uniparental disomy relationship: disease_arises_from_structure CHR:9606-chr13 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosome 13 (Human) @@ -435066,6 +438339,7 @@ subset: ordo_disease {source="Orphanet:99645"} subset: orphanet_rare {source="Orphanet:99645"} subset: rare xref: ICD10CM:Q77.3 {source="Orphanet:99645", source="Orphanet:99645/attributed", source="Orphanet:99645/ntbt"} +xref: icd11.foundation:2067032637 {source="MONDO:equivalentTo"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:99645 {source="MONDO:equivalentObsolete"} xref: SCTID:389262009 {source="MONDO:equivalentTo"} @@ -435084,6 +438358,7 @@ subset: rare synonym: "generalised enchondromatosis with platyspondyly" EXACT OMO:0003005 [] synonym: "generalized enchondromatosis with platyspondyly" EXACT [Orphanet:99647] xref: GARD:19682 {source="Orphanet:99647"} +xref: icd11.foundation:1707937102 {source="MONDO:equivalentTo"} xref: Orphanet:99647 {source="MONDO:equivalentTo"} xref: SCTID:725104005 {source="MONDO:equivalentTo"} xref: UMLS:C4510810 {source="MONDO:equivalentTo"} @@ -435189,6 +438464,7 @@ synonym: "molybdenum cofactor deficiency" RELATED [OMIMPS:252150] xref: DOID:0111165 {source="MONDO:equivalentTo"} xref: GARD:3705 {source="Orphanet:99732"} xref: ICD10CM:E72.1 {source="Orphanet:99732/attributed", source="Orphanet:99732/ntbt", source="Orphanet:99732", source="DOID:0111165"} +xref: icd11.foundation:819219337 {source="MONDO:equivalentTo"} xref: OMIMPS:252150 {source="MONDO:equivalentTo", source="DOID:0111165"} xref: Orphanet:99732 {source="MONDO:equivalentTo", source="DOID:0111165"} is_a: MONDO:0004689 {source="DOID:0111165"} ! inborn metal metabolism disorder @@ -435210,6 +438486,7 @@ synonym: "Fluctuating myotonia" EXACT [Orphanet:99734] synonym: "MF" EXACT ABBREVIATION [NCIT:C122789] xref: GARD:16904 {source="Orphanet:99734"} xref: ICD10CM:G71.1 {source="Orphanet:99734/attributed", source="Orphanet:99734/ntbt", source="Orphanet:99734"} +xref: icd11.foundation:1294270721 {source="MONDO:equivalentTo"} xref: NCIT:C122789 {source="MONDO:equivalentTo"} xref: Orphanet:99734 {source="MONDO:equivalentTo"} xref: SCTID:715788001 {source="MONDO:equivalentTo"} @@ -435227,6 +438504,7 @@ subset: orphanet_rare {source="Orphanet:99735"} subset: rare xref: GARD:16905 {source="Orphanet:99735"} xref: ICD10CM:G71.1 {source="Orphanet:99735/attributed", source="Orphanet:99735/ntbt", source="Orphanet:99735"} +xref: icd11.foundation:2133644550 {source="MONDO:equivalentTo"} xref: Orphanet:99735 {source="MONDO:equivalentTo"} xref: SCTID:715789009 {source="MONDO:equivalentTo"} is_a: MONDO:0018959 ! potassium-aggravated myotonia @@ -435248,6 +438526,7 @@ synonym: "painful congenital myotonia" EXACT [Orphanet:99736] synonym: "painful myotonia" EXACT [Orphanet:99736] xref: GARD:16906 {source="Orphanet:99736"} xref: ICD10CM:G71.1 {source="Orphanet:99736", source="Orphanet:99736/attributed", source="Orphanet:99736/ntbt"} +xref: icd11.foundation:1452993937 {source="MONDO:equivalentTo"} xref: Orphanet:99736 {source="MONDO:equivalentTo"} xref: SCTID:715793003 {source="MONDO:equivalentTo"} is_a: MONDO:0018959 {source="MONDO:Redundant", source="Orphanet:99736"} ! potassium-aggravated myotonia @@ -435407,6 +438686,7 @@ synonym: "subcortical laminar heterotopia" EXACT [DOID:0111169, Orphanet:99796] xref: DOID:0111169 {source="MONDO:equivalentTo"} xref: GARD:1904 {source="Orphanet:99796"} xref: ICD10CM:Q04.3 {source="Orphanet:99796", source="Orphanet:99796/attributed", source="Orphanet:99796/ntbt"} +xref: icd11.foundation:525786944 {source="MONDO:equivalentTo"} xref: NCIT:C116933 {source="MONDO:equivalentTo", source="DOID:0111169"} xref: Orphanet:99796 {source="MONDO:equivalentTo", source="DOID:0111169"} xref: UMLS:C1848201 {source="Orphanet:99796", source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="Orphanet:99796/e", source="NCIT:C116933", source="DOID:0111169"} @@ -435427,6 +438707,7 @@ synonym: "macrencephaly" RELATED [GARD:0002637] synonym: "unilateral megalencephaly" EXACT [Orphanet:99802] xref: GARD:2637 {source="Orphanet:99802"} xref: ICD10CM:Q04.5 {source="Orphanet:99802", source="Orphanet:99802/attributed", source="Orphanet:99802/ntbt"} +xref: icd11.foundation:961229160 {source="MONDO:equivalentTo"} xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D065705 {source="MONDO:equivalentTo"} xref: NCIT:C177779 {source="MONDO:equivalentTo"} @@ -435452,6 +438733,7 @@ synonym: "ondine-Hirschsprung disease" EXACT [Orphanet:99803] synonym: "ondine-Hirschsprung syndrome" EXACT [Orphanet:99803] xref: GARD:16909 {source="Orphanet:99803"} xref: ICD10CM:G47.3 {source="MONDO:relatedTo", source="Orphanet:99803", source="Orphanet:99803/attributed", source="Orphanet:99803/ntbt"} +xref: icd11.foundation:1685926536 {source="MONDO:equivalentTo"} xref: MESH:C536209 {source="Orphanet:99803", source="Orphanet:99803/e"} xref: Orphanet:99803 {source="MONDO:equivalentTo"} xref: SCTID:719972004 {source="MONDO:equivalentTo"} @@ -435511,6 +438793,7 @@ synonym: "hereditary porencephaly" EXACT [MONDO:patterns/hereditary] xref: DOID:0112313 {source="MONDO:equivalentTo"} xref: GARD:2258 {source="Orphanet:99810"} xref: ICD10CM:Q04.6 {source="Orphanet:99810/inclusion", source="Orphanet:99810", source="Orphanet:99810/ntbt"} +xref: icd11.foundation:1833583032 {source="MONDO:equivalentTo"} xref: MESH:C536850 {source="Orphanet:99810", source="Orphanet:99810/e"} xref: OMIMPS:175780 {source="MONDO:equivalentTo"} xref: Orphanet:99810 {source="MONDO:equivalentTo"} @@ -435534,6 +438817,7 @@ subset: orphanet_rare {source="Orphanet:99818"} subset: rare xref: GARD:16912 {source="Orphanet:99818"} xref: ICD10CM:D12.6 {source="Orphanet:99818", source="Orphanet:99818/attributed", source="Orphanet:99818/ntbt"} +xref: icd11.foundation:813602368 {source="MONDO:equivalentTo"} xref: Orphanet:99818 {source="MONDO:equivalentTo"} xref: UMLS:CN207386 {source="MONDO:equivalentTo"} is_a: MONDO:0021055 {source="Orphanet:99818"} ! classic familial adenomatous polyposis @@ -435666,6 +438950,7 @@ xref: ICD10CM:A95.0 {source="Orphanet:99829", source="Orphanet:99829/btnt"} xref: ICD10CM:A95.1 {source="Orphanet:99829", source="Orphanet:99829/btnt"} xref: ICD10CM:A95.9 {source="Orphanet:99829", source="DOID:9682", source="Orphanet:99829/btnt"} xref: icd11.foundation:383352795 {source="MONDO:equivalentTo", source="Orphanet:99829"} +xref: icd11.foundation:383352795 {source="MONDO:equivalentTo"} xref: ICD9:060 {source="DOID:9682"} xref: ICD9:060.9 {source="DOID:9682"} xref: MedDRA:10048240 {source="Orphanet:99829/e", source="Orphanet:99829"} @@ -435729,6 +439014,7 @@ synonym: "progressive encephalopathy with severe infantile anorexia" EXACT [Orph synonym: "Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome" EXACT [Orphanet:99852] xref: GARD:3231 {source="Orphanet:99852"} xref: ICD10CM:E75.2 {source="Orphanet:99852", source="Orphanet:99852/attributed", source="Orphanet:99852/ntbt"} +xref: icd11.foundation:451093599 {source="MONDO:equivalentTo"} xref: Orphanet:99852 {source="MONDO:equivalentTo"} xref: SCTID:715794009 {source="MONDO:equivalentTo"} xref: UMLS:C4275006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -435783,6 +439069,7 @@ subset: rare synonym: "congenital syringomyelia" EXACT [Orphanet:99856] xref: GARD:19691 {source="Orphanet:99856"} xref: ICD10CM:Q06.4 {source="Orphanet:99856/attributed", source="Orphanet:99856/ntbt", source="Orphanet:99856"} +xref: icd11.foundation:257905685 {source="MONDO:equivalentTo"} xref: Orphanet:99856 {source="MONDO:equivalentTo"} xref: SCTID:371076006 {source="MONDO:equivalentTo"} xref: UMLS:C0039144 {source="Orphanet:99856"} @@ -435817,6 +439104,7 @@ subset: orphanet_rare {source="Orphanet:99858"} subset: rare xref: GARD:19693 {source="Orphanet:99858"} xref: ICD10CM:G95.0 {source="Orphanet:99858", source="Orphanet:99858/attributed", source="Orphanet:99858/ntbt"} +xref: icd11.foundation:1218010255 {source="MONDO:equivalentTo"} xref: icd11.foundation:1218010255 {source="MONDO:equivalentTo", source="Orphanet:99858"} xref: Orphanet:99858 {source="MONDO:equivalentTo"} xref: SCTID:725001004 {source="MONDO:equivalentTo"} @@ -435916,6 +439204,7 @@ xref: DOID:5834 {source="MONDO:equivalentTo"} xref: DOID:7891 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:16921 {source="Orphanet:99865"} xref: ICD10CM:C62.9 {source="Orphanet:99865", source="Orphanet:99865/ntbt"} +xref: icd11.foundation:1589823811 {source="MONDO:equivalentTo"} xref: ICDO:9063/3 {source="NCIT:C39921"} xref: NCIT:C39921 {source="DOID:5834", source="MONDO:equivalentTo"} xref: Orphanet:99865 {source="MONDO:equivalentTo"} @@ -435975,6 +439264,8 @@ synonym: "eosinophilic xanthomatous granuloma" EXACT [NCIT:C3016] synonym: "Monostotic Langerhans cell histiocytosis" EXACT [NCIT:C3016] synonym: "unifocal Langerhans cell histiocytosis" EXACT [NCIT:C3016] xref: ICD10CM:C96.6 {source="Orphanet:99871/ntbt", source="Orphanet:99871"} +xref: icd11.foundation:1377407737 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1922626366 {source="MONDO:equivalentTo"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9752/1 {source="NCIT:C3016"} xref: MedDRA:10014956 {source="Orphanet:99871/e", source="Orphanet:99871"} @@ -435998,6 +439289,7 @@ synonym: "congenital Langerhans cell histiocytosis" EXACT [Orphanet:99872] synonym: "Hashimoto-Pritzker disease" RELATED [GARD:0002604] synonym: "Hashimoto-Pritzker histiocytosis" RELATED [GARD:0002604] xref: ICD10CM:C96.5 {source="Orphanet:99872/ntbt", source="Orphanet:99872"} +xref: icd11.foundation:1011705244 {source="MONDO:equivalentTo"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535843 {source="Orphanet:99872/e", source="MONDO:equivalentTo", source="Orphanet:99872"} xref: Orphanet:99872 {source="MONDO:equivalentObsolete"} @@ -436022,6 +439314,7 @@ synonym: "hand-SChüller-Christian disease" EXACT [NCIT:C6920, Orphanet:99873] synonym: "multifocal eosinophilic granuloma" EXACT [Orphanet:99873] synonym: "multifocal Unisystem Langerhans cell histiocytosis" EXACT [NCIT:C6920] xref: ICD10CM:C96.5 {source="Orphanet:99873", source="Orphanet:99873/ntbt"} +xref: icd11.foundation:876689600 {source="MONDO:equivalentTo"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:9753/1 {source="NCIT:C6920"} xref: NCIT:C6920 {source="MONDO:equivalentTo"} @@ -436045,6 +439338,7 @@ synonym: "pulmonary histiocytosis X" EXACT [NCIT:C142833, Orphanet:99874] synonym: "pulmonary Langerhans cell histiocytosis" EXACT [NCIT:C142833] xref: ICD10CM:C96.5 {source="Orphanet:99874", source="Orphanet:99874/ntbt"} xref: ICD10CM:J84.82 {source="MONDO:equivalentTo"} +xref: icd11.foundation:792398738 {source="MONDO:equivalentTo"} xref: NCIT:C142833 {source="MONDO:equivalentTo"} xref: Orphanet:99874 {source="MONDO:equivalentObsolete"} xref: SCTID:328611000119105 {source="MONDO:equivalentTo"} @@ -436062,6 +439356,7 @@ subset: orphanet_rare {source="Orphanet:99875"} subset: rare synonym: "EDS VIIA" EXACT [Orphanet:99875] xref: ICD10CM:Q79.6 {source="Orphanet:99875/attributed", source="Orphanet:99875/ntbt", source="Orphanet:99875"} +xref: icd11.foundation:165998215 {source="MONDO:equivalentTo"} xref: Orphanet:99875 {source="MONDO:equivalentObsolete"} xref: UMLS:C0268345 {source="Orphanet:99875", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C3508773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -436082,6 +439377,7 @@ xref: GTR:AN1112965 xref: GTR:AN1112966 xref: GTR:AN1112967 xref: ICD10CM:Q79.6 {source="Orphanet:99876", source="Orphanet:99876/attributed", source="Orphanet:99876/ntbt"} +xref: icd11.foundation:380846833 {source="MONDO:equivalentTo"} xref: MESH:C565061 {source="MONDO:equivalentTo"} xref: Orphanet:99876 {source="MONDO:equivalentObsolete"} xref: UMLS:C1851801 {source="Orphanet:99876", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -436096,6 +439392,7 @@ subset: orphanet_rare {source="Orphanet:99877"} subset: rare synonym: "hereditary parathyroid gland adenoma" EXACT [MONDO:patterns/hereditary] xref: ICD10CM:E21.0 {source="Orphanet:99877/attributed", source="Orphanet:99877/ntbt", source="Orphanet:99877"} +xref: icd11.foundation:55934726 {source="MONDO:equivalentTo"} xref: MESH:C564166 {source="Orphanet:99877", source="Orphanet:99877/e"} xref: Orphanet:99877 {source="MONDO:equivalentObsolete"} xref: UMLS:C1840403 {source="Orphanet:99877", source="MONDO:equivalentTo", source="Orphanet:99877/e"} @@ -436132,6 +439429,7 @@ synonym: "transient neonatal diabetes mellitus (disease)" EXACT [https://orcid.o xref: DOID:0060334 {source="MONDO:equivalentTo"} xref: HP:0008255 {source="MONDO:otherHierarchy"} xref: ICD10CM:P70.2 {source="Orphanet:99886/attributed", source="Orphanet:99886/ntbt", source="Orphanet:99886", source="DOID:0060334"} +xref: icd11.foundation:1596856936 {source="MONDO:equivalentTo"} xref: NCIT:C114899 {source="MONDO:equivalentTo"} xref: Orphanet:99886 {source="DOID:0060334"} xref: SCTID:237603002 {source="MONDO:equivalentTo"} @@ -436205,6 +439503,7 @@ xref: DOID:3946 {source="EFO:1001110", source="MONDO:equivalentTo"} xref: EFO:1001110 {source="MONDO:equivalentTo"} xref: GARD:19699 {source="Orphanet:99892"} xref: ICD10CM:E24.0 {source="EFO:1001110", source="MONDO:equivalentTo", source="Orphanet:99892/ntbt", source="DOID:3946", source="Orphanet:99892", source="MONDO:directSiblingOf"} +xref: icd11.foundation:212778081 {source="MONDO:equivalentTo"} xref: MedDRA:10035109 {source="EFO:1001110"} xref: MESH:D047748 {source="EFO:1001110", source="MONDO:equivalentTo", source="DOID:3946"} xref: NCIT:C113210 {source="MONDO:relatedTo", source="DOID:3946"} @@ -436237,6 +439536,7 @@ synonym: "adrenocorticotropic hormone-independent Cushing syndrome" EXACT [Orpha synonym: "corticotropin-independent Cushing syndrome" EXACT [Orphanet:99893] xref: GARD:19700 {source="Orphanet:99893"} xref: ICD10CM:E24.8 {source="Orphanet:99893/ntbt", source="Orphanet:99893"} +xref: icd11.foundation:652536990 {source="MONDO:equivalentTo"} xref: Orphanet:647758 {source="MONDO:equivalentTo"} xref: Orphanet:99893 {source="MONDO:equivalentTo"} is_a: MONDO:0018912 {source="Orphanet:99893"} ! Cushing syndrome @@ -436284,6 +439584,7 @@ synonym: "long-chain acyl-CoA dehydrogenase deficiency" EXACT [NCIT:C84537] synonym: "long-chain acyl-Coenzyme A dehydrogenase deficiency" EXACT [NCIT:C84537] synonym: "rare inborn error of long-chain-acyl-CoA dehydrogenase activity" EXACT [MONDO:patterns/inborn_metabolic] xref: ICD10CM:E71.3 {source="Orphanet:99900/attributed", source="Orphanet:99900/ntbt", source="Orphanet:99900"} +xref: icd11.foundation:692829041 {source="MONDO:equivalentTo"} xref: MESH:C535690 {source="Orphanet:99900", source="MONDO:equivalentTo", source="Orphanet:99900/e"} xref: NCIT:C84537 {source="MONDO:equivalentTo"} xref: Orphanet:99900 {source="MONDO:equivalentObsolete"} @@ -436367,6 +439668,7 @@ subset: orphanet_rare {source="Orphanet:99907"} subset: rare xref: GARD:19703 {source="Orphanet:99907"} xref: ICD10CM:J67.8 {source="Orphanet:99907/ntbt", source="Orphanet:99907"} +xref: icd11.foundation:1985023223 {source="MONDO:equivalentTo"} xref: Orphanet:99907 {source="MONDO:equivalentTo"} xref: SCTID:725415009 {source="MONDO:equivalentTo"} xref: UMLS:C4511048 {source="MONDO:equivalentTo"} @@ -436719,6 +440021,7 @@ synonym: "invasive hydatidiform mole" EXACT [NCIT:C6985] synonym: "invasive Mole" EXACT [NCIT:C6985] xref: GARD:19711 {source="Orphanet:99925"} xref: ICD10CM:D39.2 {source="Orphanet:99925", source="Orphanet:99925/ntbt"} +xref: icd11.foundation:1940625642 {source="MONDO:equivalentTo"} xref: ICDO:9100/1 {source="NCIT:C6985"} xref: MESH:D002820 {source="MONDO:equivalentTo"} xref: NCIT:C6985 {source="MONDO:equivalentTo"} @@ -436748,6 +440051,7 @@ synonym: "molar pregnancy with choriocarcinoma" EXACT [DOID:2025] xref: DOID:2025 {source="MONDO:equivalentTo"} xref: GARD:19712 {source="Orphanet:99926"} xref: ICD10CM:C58 {source="Orphanet:99926", source="Orphanet:99926/ntbt"} +xref: icd11.foundation:2136066651 {source="MONDO:equivalentTo"} xref: ICD9:181 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C4646 {source="DOID:2025", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: Orphanet:99926 {source="MONDO:equivalentTo"} @@ -436834,6 +440138,7 @@ synonym: "cow's milk hypersensitivity" EXACT [Orphanet:99932] xref: GARD:19714 {source="Orphanet:99932"} xref: ICD10EXP:E83.1+ {source="Orphanet:99932/ntbt", source="Orphanet:99932"} xref: ICD10EXP:J99.8* {source="Orphanet:99932/ntbt", source="Orphanet:99932"} +xref: icd11.foundation:187112249 {source="MONDO:equivalentTo"} xref: ICD9:518.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:99932 {source="MONDO:equivalentTo"} xref: SCTID:707441009 {source="MONDO:equivalentTo"} @@ -437054,6 +440359,7 @@ xref: DOID:5702 {source="MONDO:equivalentTo", source="EFO:0003083"} xref: EFO:0003083 {source="MONDO:equivalentTo"} xref: GARD:19719 {source="Orphanet:99969"} xref: ICD10CM:C49.9 {source="Orphanet:99969", source="Orphanet:99969/ntbt"} +xref: icd11.foundation:1313472271 {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8854/3 {source="NCIT:C3705"} xref: MESH:D008080 {source="DOID:5702"} @@ -437081,6 +440387,7 @@ xref: DOID:0080531 {source="MONDO:equivalentTo"} xref: EFO:0003085 {source="MONDO:equivalentTo"} xref: GARD:19720 {source="Orphanet:99970"} xref: ICD10CM:C49.9 {source="Orphanet:99970/ntbt", source="Orphanet:99970"} +xref: icd11.foundation:1373574843 {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8858/3 {source="NCIT:C3704"} xref: NCIT:C3704 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:0003085"} @@ -437139,6 +440446,7 @@ subset: orphanet_rare {source="Orphanet:99983"} subset: rare xref: GARD:19723 {source="Orphanet:99983"} xref: ICD10CM:B87.0 {source="Orphanet:99983", source="Orphanet:99983/ntbt", source="MONDO:equivalentTo"} +xref: icd11.foundation:1342682193 {source="MONDO:equivalentTo"} xref: icd11.foundation:1342682193 {source="Orphanet:99983", source="MONDO:equivalentTo"} xref: Orphanet:99983 {source="MONDO:equivalentTo"} xref: SCTID:240877000 {source="MONDO:equivalentTo"} @@ -437257,6 +440565,7 @@ def: "A ventricular tachycardia that is irregular in rate and rhythm." [NCIT:C11 synonym: "polymorphic ventricular tachycardia" EXACT [NCIT:C111648] synonym: "ventricular tachycardia, polymorphic" EXACT [] xref: HP:0031677 +xref: icd11.foundation:16452928 {source="MONDO:equivalentTo"} xref: NCIT:C111648 {source="MONDO:equivalentTo"} xref: SCTID:251159007 {source="MONDO:equivalentTo"} xref: UMLS:C0344432 {source="MONDO:equivalentTo"} @@ -437514,6 +440823,8 @@ synonym: "trichoepithelioma, benign" EXACT [NCIT:C27132] synonym: "trichogenic adnexal tumor" EXACT [NCIT:C27132] synonym: "trichogenic adnexal tumour" EXACT OMO:0003005 [] synonym: "trichogenic trichoblastoma" EXACT [NCIT:C27132] +xref: icd11.foundation:1225274077 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1414797713 {source="MONDO:equivalentTo"} xref: ICDO:8100/0 {source="NCIT:C27132"} xref: NCIT:C27132 {source="MONDO:equivalentTo"} xref: UMLS:C0349658 {source="NCIT:C27132", source="MONDO:notFoundInDiseaseSubset"} @@ -437622,6 +440933,7 @@ name: acute pharyngitis def: "An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache." [NCIT:C34355] synonym: "acute pharyngitis" EXACT [NCIT:C34355] synonym: "pharyngitis, acute" EXACT [MONDO:patterns/acute] +xref: icd11.foundation:1791890273 {source="MONDO:equivalentTo"} xref: NCIT:C34355 {source="MONDO:equivalentTo"} xref: SCTID:363746003 {source="MONDO:equivalentTo"} is_a: MONDO:0002258 {source="NCIT:C34355"} ! pharyngitis @@ -438154,6 +441466,7 @@ synonym: "superficial spreading malignant skin melanoma" EXACT [NCIT:C9152] synonym: "superficial spreading melanoma" EXACT [NCIT:C9152] synonym: "superficial spreading melanoma of skin" EXACT [NCIT:C9152] synonym: "superficial spreading melanoma of the skin" EXACT [NCIT:C9152] +xref: icd11.foundation:208661037 {source="MONDO:equivalentTo"} xref: ICDO:8743/3 {source="NCIT:C9152"} xref: NCIT:C9152 {source="MONDO:equivalentTo"} xref: SCTID:254730000 {source="MONDO:equivalentTo"} @@ -438183,6 +441496,7 @@ subset: orphanet_rare {source="Orphanet:622014"} subset: rare synonym: "autoimmune encephalitis" EXACT [NCIT:C122414] xref: GARD:11979 {source="Orphanet:622014"} +xref: icd11.foundation:241281019 {source="MONDO:equivalentTo"} xref: NCIT:C122414 {source="MONDO:equivalentTo"} xref: Orphanet:622014 {source="MONDO:equivalentTo"} xref: SCTID:95643007 {source="MONDO:equivalentTo"} @@ -438789,6 +442103,7 @@ synonym: "acute bronchiolitis" EXACT [NCIT:C39659, UMLS:C0001311] synonym: "acute capillary bronchiolitis" RELATED [UMLS:C0001311] synonym: "Capillary pneumonia" RELATED [UMLS:C0001311] synonym: "capillary pneumonia" RELATED [] +xref: icd11.foundation:1310075986 {source="MONDO:equivalentTo"} xref: ICD9:466.1 xref: ICD9:466.19 xref: NCIT:C39659 {source="MONDO:equivalentTo", source="UMLS:C0001311"} @@ -438909,6 +442224,7 @@ def: "An acute inflammation of the tonsils caused by viruses or bacteria. Signs synonym: "acute adenoiditis" NARROW [] synonym: "acute tonsillitis" EXACT [NCIT:C97142, UMLS:C0001361] synonym: "infective tonsillitis" RELATED [UMLS:C0001361] +xref: icd11.foundation:260431605 {source="MONDO:equivalentTo"} xref: ICD9:463 xref: NCIT:C97142 {source="UMLS:C0001361", source="MONDO:equivalentTo"} xref: SCTID:17741008 {source="UMLS:C0001361", source="MONDO:equivalentTo"} @@ -439106,6 +442422,7 @@ synonym: "cobalamin deficiency" EXACT [] synonym: "hypocobalaminemia" EXACT [NCIT:C131684] synonym: "vitamin b12 deficiency" EXACT [NCIT:C131684] xref: HP:0100502 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:1366882206 {source="MONDO:equivalentTo"} xref: ICD9:266.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D014806 {source="MONDO:equivalentTo"} xref: NCIT:C131684 {source="MONDO:equivalentTo"} @@ -439238,6 +442555,7 @@ id: MONDO:0020707 name: central hearing loss def: "Hearing loss resulting from disorders of the central nervous system auditory pathways." [NCIT:C34662] synonym: "central hearing loss" EXACT [NCIT:C34662] +xref: icd11.foundation:1513090105 {source="MONDO:equivalentTo"} xref: NCIT:C34662 {source="MONDO:equivalentTo"} is_a: MONDO:0005365 {source="NCIT:C34662"} ! hearing loss disorder intersection_of: MONDO:0005365 ! hearing loss disorder @@ -439426,6 +442744,7 @@ subset: inferred_rare subset: rare synonym: "X-linked hypophosphatemic rickets" EXACT CLINGEN_LABEL [] synonym: "X-linked hypophosphatemic rickets (recessive or dominant)" EXACT [https://orcid.org/0000-0001-5493-2602] +xref: icd11.foundation:1169135980 {source="MONDO:equivalentTo"} xref: MESH:D053098 {source="MONDO:equivalentTo"} xref: NCIT:C123265 {source="MONDO:equivalentObsolete"} xref: UMLS:C3540852 {source="MONDO:equivalentTo"} @@ -439729,6 +443048,7 @@ comment: Reason: duplicate. This will be merged with MONDO:0015333 Progeria subset: inferred_rare subset: obsoletion_candidate subset: rare +xref: icd11.foundation:926151882 {source="MONDO:equivalentTo"} xref: MESH:D011371 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: OMIMPS:176670 {source="MONDO:equivalentTo"} is_a: MONDO:0015333 ! progeroid syndrome @@ -440154,6 +443474,7 @@ def: "A migraine disorder characterized by an aura that includes motor weakness subset: inferred_rare subset: rare synonym: "sporadic hemiplegic migraine" EXACT [NCIT:C117011] +xref: icd11.foundation:1303340532 {source="MONDO:equivalentTo"} xref: NCIT:C117011 {source="MONDO:equivalentTo"} xref: UMLS:C1832903 {source="NCIT:C117011", source="MONDO:notFoundInDiseaseSubset", source="OMIM:141500"} is_a: MONDO:0005277 {source="NCIT:C117011"} ! migraine disorder @@ -440565,6 +443886,7 @@ def: "Chronic painless inflammation of the gums. It is characterized by erythema synonym: "Chronic Gingivitis" RELATED [NCIT:C34474] synonym: "Chronic gingivitis" RELATED [UMLS:C0008684] synonym: "chronic gingivitis" EXACT [NCIT:C34474] +xref: icd11.foundation:1542018172 {source="MONDO:equivalentTo"} xref: ICD9:523.1 xref: ICD9:523.10 xref: NCIT:C34474 {source="UMLS:C0008684", source="MONDO:equivalentTo"} @@ -440938,6 +444260,7 @@ intersection_of: disease_arises_from_structure CL:0000646 ! basal cell id: MONDO:0020806 name: sinoatrial block def: "A heart block that is initiated in the sinoatrial node." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Sinoatrial_block] +xref: icd11.foundation:884453307 {source="MONDO:equivalentTo"} xref: MESH:D012848 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: SCTID:65778007 {source="MONDO:equivalentTo"} is_a: MONDO:0000992 {source="Wikipedia:Heart_block", source="https://github.com/monarch-initiative/mondo/issues/2536", source="https://orcid.org/0000-0001-5208-3432"} ! heart conduction disease @@ -441147,6 +444470,7 @@ subset: rare synonym: "diaphragmatitis" EXACT [UMLS:C0011985] synonym: "diaphragmitis" EXACT [UMLS:C0011985] xref: EFO:0000937 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1124735890 {source="MONDO:equivalentTo"} xref: SCTID:73160007 {source="MONDO:equivalentTo", source="UMLS:C0011985"} xref: UMLS:C0011985 {source="MONDO:equivalentTo"} is_a: MONDO:0005728 ! diaphragm disorder @@ -441465,6 +444789,7 @@ synonym: "diphtheritic laryngotracheitis" RELATED [] synonym: "Laryngeal Diphtheria" RELATED [NCIT:C34546] synonym: "Laryngeal diphtheria" RELATED [UMLS:C0012557] synonym: "laryngeal diphtheria" EXACT [NCIT:C34546] +xref: icd11.foundation:1101542926 {source="MONDO:equivalentTo"} xref: ICD9:032.3 xref: NCIT:C34546 {source="MONDO:equivalentTo", source="UMLS:C0012557"} xref: SCTID:50215002 {source="MONDO:equivalentTo", source="UMLS:C0012557"} @@ -441695,6 +445020,7 @@ subset: rare synonym: "gc urethritis" EXACT [NCIT:C26787] synonym: "Gonococcal urethritis" RELATED [NCIT:C26787, UMLS:C0018078] synonym: "gonococcal urethritis" EXACT [NCIT:C26787] +xref: icd11.foundation:684710834 {source="MONDO:equivalentTo"} xref: NCIT:C26787 {source="UMLS:C0018078", source="MONDO:equivalentTo"} xref: SCTID:236682002 {source="UMLS:C0018078", source="MONDO:equivalentTo"} xref: UMLS:C0018078 {source="MONDO:equivalentTo"} @@ -441731,6 +445057,7 @@ def: "An infectious or non-infectious inflammatory process that affects the pros synonym: "Granulomatous Prostatitis" RELATED [NCIT:C26789] synonym: "Granulomatous prostatitis" RELATED [UMLS:C0018204] synonym: "granulomatous prostatitis" EXACT [NCIT:C26789] +xref: icd11.foundation:66037326 {source="MONDO:equivalentTo"} xref: ICD9:601.8 xref: NCIT:C26789 {source="MONDO:equivalentTo", source="UMLS:C0018204"} xref: SCTID:61500009 {source="MONDO:equivalentTo", source="UMLS:C0018204"} @@ -441742,6 +445069,7 @@ id: MONDO:0020979 name: pilosebaceous hamartoma def: "A hamartoma characterized by localized pilosebaceous apparatus malformation." [NCIT:C5565] synonym: "pilosebaceous hamartoma" EXACT [NCIT:C5565] +xref: icd11.foundation:59912591 {source="MONDO:equivalentTo"} xref: NCIT:C5565 {source="MONDO:equivalentTo"} is_a: MONDO:0021539 {source="NCIT:C5565"} ! hamartoma of skin appendage @@ -441870,6 +445198,7 @@ xref: ICD10CM:Q70.2 {source="Orphanet:90025"} xref: ICD10CM:Q70.3 {source="Orphanet:90025"} xref: ICD10CM:Q70.4 {source="Orphanet:90025"} xref: ICD10CM:Q70.9 {source="DOID:11193", source="Orphanet:90025"} +xref: icd11.foundation:1736296640 {source="MONDO:equivalentTo"} xref: ICD9:755.1 {source="DOID:11193"} xref: MedDRA:10042778 {source="Orphanet:90025"} xref: MESH:D013576 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="DOID:11193", source="Orphanet:90025"} @@ -441909,6 +445238,7 @@ xref: ICD10CM:Q69.0 {source="Orphanet:2913"} xref: ICD10CM:Q69.1 {source="Orphanet:2913"} xref: ICD10CM:Q69.2 {source="Orphanet:2913"} xref: ICD10CM:Q69.9 {source="DOID:1148", source="Orphanet:2913"} +xref: icd11.foundation:1534380955 {source="MONDO:equivalentTo"} xref: ICD9:755.0 {source="DOID:1148"} xref: ICD9:755.00 {source="DOID:1148", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10036063 {source="Orphanet:2913"} @@ -441940,6 +445270,7 @@ synonym: "brachydactyly" EXACT [DOID:0050581] synonym: "brachydactyly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0050581 {source="MONDO:equivalentTo"} xref: HP:0001156 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:598200019 {source="MONDO:equivalentTo"} xref: MESH:D059327 {source="MONDO:equivalentTo"} xref: UMLS:C0221357 {source="Orphanet:294937", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease @@ -441981,6 +445312,7 @@ name: secondary antiphospholipid syndrome def: "An antiphospholipid syndrome that occurs alongside another autoimmune disorder." [https://rarediseases.org/rare-diseases/antiphospholipid-syndrome/] subset: inferred_rare subset: rare +xref: icd11.foundation:138987181 {source="MONDO:equivalentTo"} xref: ICD9:795.79 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:239895006 {source="MONDO:equivalentTo"} xref: UMLS:C0409983 {source="MONDO:equivalentTo"} @@ -442173,6 +445505,7 @@ synonym: "X-linked ocular albinism" RELATED [GARD:0008471] synonym: "XLOA" EXACT ABBREVIATION [Orphanet:54] xref: GARD:8471 {source="Orphanet:54"} xref: ICD10CM:E70.3 {source="Orphanet:54/attributed", source="Orphanet:54/ntbt"} +xref: icd11.foundation:846740259 {source="MONDO:equivalentTo"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C537863 {source="Orphanet:54", source="MONDO:equivalentTo", source="Orphanet:54/e"} xref: NCIT:C118785 {source="MONDO:equivalentTo"} @@ -442208,6 +445541,7 @@ synonym: "hyperbilirubinemia, Crigler-Najjar type 1" EXACT [OMIM:218800] synonym: "UGT deficiency type 1" EXACT [Orphanet:79234] xref: GARD:47 {source="Orphanet:79234"} xref: ICD10CM:E80.5 {source="Orphanet:205", source="Orphanet:79234/attributed", source="Orphanet:79234/ntbt", source="DOID:3803", source="Orphanet:79234"} +xref: icd11.foundation:1098453659 {source="MONDO:equivalentTo"} xref: MedDRA:10057034 {source="Orphanet:79234/e", source="Orphanet:79234"} xref: MESH:C536212 {source="Orphanet:79234/e", source="Orphanet:79234"} xref: OMIM:218800 {source="Orphanet:205", source="Orphanet:79234/e", source="MONDO:equivalentTo", source="DOID:3803", source="Orphanet:79234"} @@ -442261,6 +445595,7 @@ synonym: "Stiff baby syndrome" EXACT [Orphanet:3197] xref: DOID:0060695 {source="MONDO:equivalentTo"} xref: GARD:3129 {source="Orphanet:3197"} xref: ICD10CM:G25.8 {source="DOID:0060695", source="Orphanet:3197/attributed", source="Orphanet:3197/ntbt", source="Orphanet:306773", source="Orphanet:3197"} +xref: icd11.foundation:988250063 {source="MONDO:equivalentTo"} xref: OMIMPS:149400 {source="MONDO:equivalentTo"} xref: Orphanet:3197 {source="DOID:0060695", source="MONDO:equivalentTo"} xref: SCTID:724351008 {source="MONDO:equivalentTo"} @@ -442441,6 +445776,7 @@ id: MONDO:0021036 name: keratosis pilaris def: "A form of dry skin characterized by hair follicles plugged by scale." [https://www.dermnetnz.org/topics/keratosis-pilaris/] synonym: "KP" EXACT ABBREVIATION [NCIT:C124070] +xref: icd11.foundation:1614890502 {source="MONDO:equivalentTo"} xref: NCIT:C124070 {source="MONDO:equivalentTo"} xref: SCTID:5132005 {source="MONDO:equivalentTo"} xref: UMLS:C0263383 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C124070"} @@ -442783,6 +446119,7 @@ synonym: "parasympathetic Extra-adrenal paraganglioma" EXACT [NCIT:C4217] synonym: "parasympathetic nervous system paraganglioma" EXACT [MONDO:patterns/location] synonym: "parasympathetic paraganglioma" EXACT [NCIT:C4217] synonym: "parasympathetic Paraganglionic neoplasm" EXACT [NCIT:C4217] +xref: icd11.foundation:925095993 {source="MONDO:equivalentTo"} xref: ICDO:8682/1 {source="NCIT:C4217"} xref: NCIT:C4217 {source="MONDO:equivalentTo"} xref: UMLS:C0334416 {source="MONDO:equivalentTo", source="NCIT:C4217"} @@ -442808,6 +446145,7 @@ synonym: "tumor of carotid body" RELATED [NCIT:C2932] synonym: "tumor of the carotid body" RELATED [NCIT:C2932] synonym: "tumour of carotid body" RELATED OMO:0003005 [] synonym: "tumour of the carotid body" RELATED OMO:0003005 [] +xref: icd11.foundation:655145247 {source="MONDO:equivalentTo"} xref: ICDO:8692/1 {source="NCIT:C2932"} xref: NCIT:C2932 {source="MONDO:equivalentTo"} xref: UMLS:C0007279 {source="MONDO:equivalentTo", source="NCIT:C2932"} @@ -443365,6 +446703,7 @@ synonym: "paraganglioma of sympathetic nervous system" EXACT [MONDO:design_patte synonym: "sympathetic nervous system paraganglioma" EXACT [MONDO:patterns/location] synonym: "sympathetic paraganglioma" EXACT [NCIT:C4216] synonym: "sympathetic Paraganglionic neoplasm" EXACT [NCIT:C4216] +xref: icd11.foundation:1009239701 {source="MONDO:equivalentTo"} xref: ICDO:8681/1 {source="NCIT:C4216"} xref: MESH:C531777 {source="MONDO:equivalentTo"} xref: NCIT:C4216 {source="MONDO:equivalentTo"} @@ -443452,6 +446791,7 @@ relationship: has_characteristic PATO:0001673 ! cystic id: MONDO:0021078 name: glandular papilloma synonym: "glandular papilloma" EXACT [NCIT:C6880] +xref: icd11.foundation:1424808612 {source="MONDO:equivalentTo"} xref: NCIT:C6880 {source="MONDO:equivalentTo"} xref: UMLS:C0205650 {source="NCIT:C6880", source="MONDO:directSiblingOf"} is_a: MONDO:0002363 {source="MONDO:Redundant", source="NCIT:C6880"} ! papilloma @@ -443514,6 +446854,7 @@ synonym: "limbic encephalitis with N-methyl-D-aspartate receptor antibodies" EXA synonym: "limbic encephalitis with NMDA receptor antibodies" EXACT [MONDO:0016317] xref: GARD:20513 {source="Orphanet:217253"} xref: ICD10CM:G13.1 {source="Orphanet:217253/ntbt", source="Orphanet:217253"} +xref: icd11.foundation:1568915618 {source="MONDO:equivalentTo"} xref: MESH:D060426 {source="MONDO:equivalentTo"} xref: NCIT:C94853 {source="MONDO:equivalentTo"} xref: Orphanet:217253 {source="MONDO:equivalentTo"} @@ -443668,6 +447009,7 @@ def: "A WHO grade III meningioma characterized by the predominance of a perivasc subset: inferred_rare subset: rare synonym: "papillary meningioma" EXACT [NCIT:C3904] +xref: icd11.foundation:1295213329 {source="MONDO:equivalentTo"} xref: ICDO:9538/3 {source="NCIT:C3904"} xref: NCIT:C3904 {source="MONDO:equivalentTo"} xref: ONCOTREE:PPM {source="MONDO:equivalentTo"} @@ -444051,6 +447393,7 @@ synonym: "narcolepsy with or without cataplexy" EXACT [Orphanet:619284] synonym: "narcolepsy, without cataplexy" NARROW [DOID:8986] synonym: "paroxysmal sleep" EXACT [DOID:8986] xref: DOID:8986 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1201727099 {source="MONDO:equivalentTo"} xref: MESH:D009290 {source="DOID:8986", source="Orphanet:2073/e", source="MONDO:equivalentTo", source="Orphanet:2073"} xref: NCIT:C84489 {source="MONDO:equivalentTo"} xref: Orphanet:619284 {source="MONDO:equivalentTo"} @@ -444109,6 +447452,7 @@ synonym: "adenoma of sweat gland" EXACT [NCIT:C7560] synonym: "adenoma of the sweat gland" EXACT [NCIT:C7560] synonym: "adenoma, sweat gland, benign" EXACT [NCIT:C7560] synonym: "sweat gland adenoma" EXACT [MONDO:patterns/location, NCIT:C7560] +xref: icd11.foundation:1487816261 {source="MONDO:equivalentTo"} xref: ICDO:8400/0 {source="NCIT:C7560"} xref: NCIT:C7560 {source="MONDO:equivalentTo"} xref: UMLS:C0019522 {source="NCIT:C7560", source="MONDO:notFoundInDiseaseSubset"} @@ -444183,6 +447527,7 @@ synonym: "respiratory failure" EXACT [NCIT:C26872] synonym: "respiratory insufficiency/failure" EXACT [DOID:11162] xref: DOID:11162 {source="MONDO:equivalentTo"} xref: ICD10CM:J96.0 {source="DOID:11162"} +xref: icd11.foundation:370028006 {source="MONDO:equivalentTo"} xref: ICD9:518.81 {source="DOID:11162"} xref: ICD9:518.83 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D012131 {source="MONDO:equivalentTo"} @@ -444416,6 +447761,7 @@ synonym: "sub-fertility, female" RELATED [MESH:D007247] synonym: "subfertility, female" RELATED [MESH:D007247] xref: EFO:0008560 {source="MONDO:equivalentTo"} xref: ICD10CM:N97 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1237004558 {source="MONDO:equivalentTo"} xref: ICD9:628.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:628.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D007247 {source="MONDO:equivalentTo"} @@ -444520,6 +447866,7 @@ id: MONDO:0021132 name: tertiary hyperparathyroidism def: "An overproduction of parathyroid hormone that is autonomous and often associated with chronic secondary hyperparathyroidism." [NCIT:C114821] synonym: "tertiary hyperparathyroidism" EXACT [NCIT:C114821] +xref: icd11.foundation:10683191 {source="MONDO:equivalentTo"} xref: ICD9:588.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C114821 {source="MONDO:equivalentTo"} xref: SCTID:78200003 {source="MONDO:equivalentTo"} @@ -444539,6 +447886,7 @@ subset: rare synonym: "acquired factor XIII deficiency" EXACT [MONDO:patterns/acquired] synonym: "aFXIII" EXACT ABBREVIATION [Orphanet:599513] xref: GARD:22412 {source="Orphanet:599513"} +xref: icd11.foundation:939366157 {source="MONDO:equivalentTo"} xref: NCIT:C131629 {source="MONDO:equivalentTo"} xref: Orphanet:599513 {source="MONDO:equivalentTo"} xref: UMLS:C0238120 {source="MONDO:equivalentTo", source="NCIT:C131629"} @@ -444616,6 +447964,7 @@ id: MONDO:0021140 name: congenital def: "A characteristic of a disease in which the disease is present at birth, regardless of cause." [Wikipedia:Birth_defect] synonym: "inborn" EXACT [] +xref: icd11.foundation:1048408993 {source="MONDO:equivalentTo"} is_a: MONDO:0021139 ! congenital or acquired relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -444845,6 +448194,7 @@ synonym: "nervous system, pituitary" EXACT [NCIT:C12399] synonym: "pituitary" EXACT [NCIT:C12399] synonym: "pituitary gland" EXACT [NCIT:C12399] synonym: "pituitary gland inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] +xref: icd11.foundation:1589682285 {source="MONDO:equivalentTo"} xref: MESH:D000072659 {source="MONDO:equivalentTo"} xref: NCIT:C12399 {source="MONDO:equivalentTo"} xref: SCTID:237705001 {source="MONDO:equivalentTo"} @@ -444863,6 +448213,7 @@ synonym: "gonorrhea of cervix" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "gonorrhea of uterine cervix" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "gonorrhoea of cervix" EXACT OMO:0003005 [] synonym: "gonorrhoea of uterine cervix" EXACT OMO:0003005 [] +xref: icd11.foundation:1706835456 {source="MONDO:equivalentTo"} xref: SCTID:237083000 {source="MONDO:equivalentTo"} xref: UMLS:C0812378 {source="MONDO:equivalentTo"} is_a: MONDO:0002345 {source="https://orcid.org/0000-0001-5208-3432"} ! cervicitis @@ -444910,6 +448261,7 @@ subset: inferred_rare subset: rare synonym: "Neisseria gonorrhoeae caused cystitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Neisseria gonorrhoeae cystitis" EXACT [] +xref: icd11.foundation:638246732 {source="MONDO:equivalentTo"} xref: SCTID:197848003 {source="MONDO:equivalentTo"} xref: UMLS:C0473230 {source="MONDO:equivalentTo"} is_a: MONDO:0004277 {source="MONDO:Redundant"} ! gonorrhea @@ -444926,6 +448278,7 @@ subset: inferred_rare subset: rare synonym: "Neisseria gonorrhoeae caused prostatitis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Neisseria gonorrhoeae prostatitis (disease)" EXACT [] +xref: icd11.foundation:1032655599 {source="MONDO:equivalentTo"} xref: SCTID:197967000 {source="MONDO:equivalentTo"} xref: UMLS:C0341755 {source="MONDO:equivalentTo"} is_a: MONDO:0004277 {source="MONDO:Redundant"} ! gonorrhea @@ -444987,6 +448340,7 @@ name: posthitis def: "An inflammatory disease involving a pathogenic inflammatory response in the prepuce of penis." [MONDO:patterns/inflammatory_disease_by_site] synonym: "inflammation of prepuce of penis" EXACT [] synonym: "prepuce of penis inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] +xref: icd11.foundation:1119547622 {source="MONDO:equivalentTo"} xref: SCTID:44318002 {source="MONDO:equivalentTo"} xref: UMLS:C0235640 {source="MONDO:equivalentTo"} is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease @@ -445064,6 +448418,7 @@ synonym: "fetal fat cell lipoma" EXACT [NCIT:C3702] synonym: "foetal fat cell lipoma" EXACT OMO:0003005 [] synonym: "hibernoma" EXACT [NCIT:C3702] synonym: "hibernoma, benign" EXACT [NCIT:C3702] +xref: icd11.foundation:982727214 {source="MONDO:equivalentTo"} xref: ICDO:8880/0 {source="NCIT:C3702"} xref: NCIT:C3702 {source="MONDO:equivalentTo"} xref: SCTID:404064001 {source="MONDO:equivalentTo"} @@ -445162,6 +448517,7 @@ subset: rare synonym: "autoimmune hepatitis type 2" EXACT [] synonym: "type 2 AIH" EXACT [http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/hepatology/chronic-autoimmune-hepatitis/] xref: GARD:22252 {source="Orphanet:563581"} +xref: icd11.foundation:61111843 {source="MONDO:equivalentTo"} xref: Orphanet:563581 {source="MONDO:equivalentTo"} xref: SCTID:721712002 {source="MONDO:equivalentTo"} xref: UMLS:C4303163 {source="MONDO:equivalentTo"} @@ -445174,6 +448530,7 @@ def: "Autoimmune hepatitis characterized by the presence of antibodies to solubl subset: inferred_rare subset: rare synonym: "autoimmune hepatitis type 3" EXACT [] +xref: icd11.foundation:607786920 {source="MONDO:equivalentTo"} xref: SCTID:721713007 {source="MONDO:equivalentTo"} xref: UMLS:C4303162 {source="MONDO:equivalentTo"} is_a: MONDO:0016264 {source="https://orcid.org/0000-0002-6601-2165"} ! autoimmune hepatitis @@ -445599,6 +448956,7 @@ name: chronic otitis media def: "Chronic form of otitis media (disease)." [MONDO:patterns/chronic] synonym: "chronic otitis media (disease)" EXACT [] synonym: "otitis media (disease), chronic" EXACT [MONDO:patterns/chronic] +xref: icd11.foundation:38010200 {source="MONDO:equivalentTo"} xref: ICD9:381.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:21186006 {source="MONDO:equivalentTo"} xref: UMLS:C0271441 {source="MONDO:equivalentTo"} @@ -446759,6 +450117,7 @@ name: leiomyoma of ciliary body def: "A leiomyoma that involves the ciliary body." [MONDO:patterns/location] synonym: "ciliary body leiomyoma" EXACT [MONDO:patterns/location, NCIT:C4560] synonym: "leiomyoma of the ciliary body" EXACT [NCIT:C4560] +xref: icd11.foundation:99905286 {source="MONDO:equivalentTo"} xref: ICD9:224.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4560 {source="MONDO:equivalentTo"} xref: SCTID:255020006 {source="MONDO:equivalentTo"} @@ -446776,6 +450135,7 @@ subset: inferred_rare subset: rare synonym: "eyelid papilloma" EXACT [MONDO:patterns/location, NCIT:C4061] synonym: "papilloma of the eyelid" EXACT [NCIT:C4061] +xref: icd11.foundation:643260480 {source="MONDO:equivalentTo"} xref: NCIT:C4061 {source="MONDO:equivalentTo"} xref: SCTID:314515006 {source="MONDO:equivalentTo"} xref: UMLS:C1142491 {source="MONDO:equivalentTo", source="NCIT:C4061"} @@ -446827,6 +450187,7 @@ synonym: "mucoepidermoid carcinoma of the parotid" EXACT [NCIT:C5938] synonym: "mucoepidermoid carcinoma of the parotid gland" EXACT [NCIT:C5938] synonym: "parotid gland mucoepidermoid carcinoma" EXACT [MONDO:patterns/location, NCIT:C5938] synonym: "parotid mucoepidermoid carcinoma" EXACT [NCIT:C5938] +xref: icd11.foundation:135568040 {source="MONDO:equivalentTo"} xref: NCIT:C5938 {source="MONDO:equivalentTo"} xref: SCTID:423793008 {source="MONDO:equivalentTo"} xref: UMLS:C1335363 {source="NCIT:C5938", source="MONDO:equivalentTo"} @@ -446869,6 +450230,7 @@ synonym: "malignant testicular teratoma" EXACT [NCIT:C6353] synonym: "testicular immature teratoma" EXACT [NCIT:C6353] synonym: "testicular malignant teratoma" EXACT [NCIT:C6353] synonym: "testis malignant teratoma" EXACT [MONDO:patterns/location] +xref: icd11.foundation:1214355345 {source="MONDO:equivalentTo"} xref: ICD9:186.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C6353 {source="MONDO:equivalentTo"} xref: SCTID:416769008 {source="MONDO:equivalentTo"} @@ -446968,6 +450330,7 @@ synonym: "stage 0 epiglottic carcinoma aJCC v7" EXACT [NCIT:C4592] synonym: "stage 0 epiglottic carcinoma aJCC v8" EXACT [NCIT:C4592] synonym: "stage 0 epiglottic throat cancer" EXACT [NCIT:C4592] synonym: "stage 0 epiglottis carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ] +xref: icd11.foundation:238950969 {source="MONDO:equivalentTo"} xref: NCIT:C4592 {source="MONDO:equivalentTo"} xref: SCTID:92584005 {source="MONDO:equivalentTo"} xref: UMLS:C0347103 {source="NCIT:C4592", source="MONDO:equivalentTo"} @@ -446997,6 +450360,7 @@ synonym: "stage 0 hypopharyngeal carcinoma aJCC v8" EXACT [NCIT:C9101] synonym: "stage 0 hypopharyngeal carcinoma in situ" EXACT [NCIT:C9101] synonym: "stage 0 hypopharyngeal throat cancer" EXACT [NCIT:C9101] synonym: "stage 0 hypopharynx carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C9101] +xref: icd11.foundation:591890094 {source="MONDO:equivalentTo"} xref: NCIT:C9101 {source="MONDO:equivalentTo"} xref: SCTID:92612007 {source="MONDO:equivalentTo"} xref: UMLS:C0347100 {source="NCIT:C9101", source="MONDO:equivalentTo"} @@ -447042,6 +450406,7 @@ synonym: "stage 0 appendix carcinoma aJCC v7" EXACT [NCIT:C4593] synonym: "stage 0 vermiform appendix carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ] synonym: "vermiform appendix carcinoma in situ" EXACT [] synonym: "vermiform appendix in situ carcinoma" EXACT [MONDO:patterns/location] +xref: icd11.foundation:1098804908 {source="MONDO:equivalentTo"} xref: NCIT:C4593 {source="MONDO:equivalentTo"} xref: SCTID:92539008 {source="MONDO:equivalentTo"} xref: UMLS:C0347125 {source="NCIT:C4593", source="MONDO:equivalentTo"} @@ -447166,6 +450531,7 @@ synonym: "stage 0 nasopharyngeal carcinoma aJCC v8" EXACT [NCIT:C9099] synonym: "stage 0 nasopharyngeal carcinoma in situ" EXACT [NCIT:C9099] synonym: "stage 0 nasopharyngeal throat cancer" EXACT [NCIT:C9099] synonym: "stage 0 nasopharynx carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C9099] +xref: icd11.foundation:1626158287 {source="MONDO:equivalentTo"} xref: NCIT:C9099 {source="MONDO:equivalentTo"} xref: SCTID:92664001 {source="MONDO:equivalentTo"} xref: UMLS:C0347096 {source="MONDO:equivalentTo", source="NCIT:C9099"} @@ -447195,6 +450561,7 @@ synonym: "stage 0 oropharyngeal carcinoma aJCC v7" EXACT [NCIT:C4590] synonym: "stage 0 oropharyngeal carcinoma in situ" EXACT [NCIT:C4590] synonym: "stage 0 oropharyngeal throat cancer" EXACT [NCIT:C4590] synonym: "stage 0 oropharynx carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C4590] +xref: icd11.foundation:364791852 {source="MONDO:equivalentTo"} xref: NCIT:C4590 {source="MONDO:equivalentTo"} xref: SCTID:92668003 {source="MONDO:equivalentTo"} xref: UMLS:C0347099 {source="NCIT:C4590", source="MONDO:equivalentTo"} @@ -447238,6 +450605,7 @@ synonym: "adenoid cystic carcinoma of the oropharynx" EXACT [NCIT:C6241] synonym: "oropharyngeal adenoid cystic carcinoma" EXACT [NCIT:C6241] synonym: "oropharyngeal throat adenoid cystic cancer" EXACT [NCIT:C6241] synonym: "oropharynx adenoid cystic carcinoma" EXACT [MONDO:patterns/location] +xref: icd11.foundation:2053023791 {source="MONDO:equivalentTo"} xref: NCIT:C6241 {source="MONDO:equivalentTo"} xref: SCTID:423318000 {source="MONDO:equivalentTo"} xref: UMLS:C1335139 {source="NCIT:C6241", source="MONDO:equivalentTo"} @@ -447255,6 +450623,7 @@ synonym: "adenoma of the nipple" EXACT [NCIT:C4192] synonym: "nipple adenoma" EXACT [MONDO:patterns/location, NCIT:C4192] synonym: "papillomatosis, subareolar duct" EXACT [NCIT:C4192] synonym: "subareolar duct papillomatosis" RELATED [NCIT:C4192] +xref: icd11.foundation:1430405383 {source="MONDO:equivalentTo"} xref: ICDO:8506/0 {source="NCIT:C4192"} xref: NCIT:C4192 {source="MONDO:equivalentTo"} xref: SCTID:302829009 {source="MONDO:equivalentTo"} @@ -448384,6 +451753,7 @@ synonym: "Hypertrophic lichen planus" RELATED [UMLS:C0023649] synonym: "hypertrophic lichen planus" EXACT [NCIT:C34779] synonym: "Lichen planus hypertrophicus" RELATED [UMLS:C0023649] synonym: "lichen planus hypertrophicus" RELATED [] +xref: icd11.foundation:1096967508 {source="MONDO:equivalentTo"} xref: NCIT:C34779 {source="UMLS:C0023649", source="MONDO:equivalentTo"} xref: SCTID:68266006 {source="UMLS:C0023649", source="MONDO:equivalentTo"} xref: UMLS:C0023649 {source="MONDO:equivalentTo"} @@ -448626,6 +451996,7 @@ def: "A polyp that involves the ureter." [MONDO:patterns/location] synonym: "polyp of the ureter" EXACT [NCIT:C4530] synonym: "ureter polyp" EXACT [MONDO:patterns/location, NCIT:C4530] synonym: "ureteral polyp" EXACT [NCIT:C4530] +xref: icd11.foundation:134277787 {source="MONDO:equivalentTo"} xref: ICD9:593.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4530 {source="MONDO:equivalentTo"} xref: SCTID:197821004 {source="MONDO:equivalentTo"} @@ -448645,6 +452016,7 @@ synonym: "large intestine polyp" EXACT [MONDO:patterns/location, NCIT:C5679] synonym: "polyp of large bowel" EXACT [NCIT:C5679] synonym: "polyp of the large bowel" EXACT [NCIT:C5679] synonym: "polyp of the large intestine" EXACT [NCIT:C5679] +xref: icd11.foundation:537826614 {source="MONDO:equivalentTo"} xref: NCIT:C5679 {source="MONDO:equivalentTo"} xref: SCTID:399505005 {source="MONDO:equivalentTo"} xref: UMLS:C0949059 {source="MONDO:equivalentTo", source="NCIT:C5679"} @@ -448661,6 +452033,7 @@ synonym: "polyp, vaginal, benign" EXACT [NCIT:C3664] synonym: "vagina polyp" EXACT [MONDO:patterns/location] synonym: "vaginal polyp" EXACT [NCIT:C3664] xref: ICD10CM:N84.2 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1664143745 {source="MONDO:equivalentTo"} xref: ICD9:623.7 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3664 {source="MONDO:equivalentTo"} xref: SCTID:29609001 {source="MONDO:equivalentTo"} @@ -448678,6 +452051,7 @@ synonym: "polyp of the vulva" EXACT [NCIT:C3978] synonym: "vulva polyp" EXACT [NCIT:C3978] synonym: "vulvar polyp" EXACT [NCIT:C3978] xref: ICD10CM:N84.3 {source="MONDO:equivalentTo"} +xref: icd11.foundation:108731413 {source="MONDO:equivalentTo"} xref: ICD9:624.6 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3978 {source="MONDO:equivalentTo"} xref: SCTID:57158005 {source="MONDO:equivalentTo"} @@ -448755,6 +452129,7 @@ name: polyp of frontal sinus def: "A polyp that involves the frontal sinus." [MONDO:patterns/location] synonym: "frontal sinus polyp" EXACT [MONDO:patterns/location, NCIT:C4367] synonym: "polyp of the frontal sinus" EXACT [NCIT:C4367] +xref: icd11.foundation:1462900314 {source="MONDO:equivalentTo"} xref: ICD9:471.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4367 {source="MONDO:equivalentTo"} xref: SCTID:195759002 {source="MONDO:equivalentTo"} @@ -448785,6 +452160,7 @@ def: "A polyp that involves the gall bladder." [MONDO:patterns/location] synonym: "gall bladder polyp" EXACT [MONDO:patterns/location] synonym: "gallbladder polyp" EXACT [NCIT:C3909] synonym: "polyp of the gallbladder" EXACT [NCIT:C3909] +xref: icd11.foundation:839854600 {source="MONDO:equivalentTo"} xref: NCIT:C3909 {source="MONDO:equivalentTo"} xref: SCTID:197433003 {source="MONDO:equivalentTo"} xref: UMLS:C0262493 {source="MONDO:equivalentTo", source="NCIT:C3909"} @@ -448817,6 +452193,7 @@ def: "A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually synonym: "laryngeal vocal fold polyp" EXACT [MONDO:patterns/location] synonym: "polyp of the vocal cord" EXACT [NCIT:C3440] synonym: "vocal cord polyp" EXACT [NCIT:C3440] +xref: icd11.foundation:1351291002 {source="MONDO:equivalentTo"} xref: NCIT:C3440 {source="MONDO:equivalentTo"} xref: SCTID:9078005 {source="MONDO:equivalentTo"} xref: UMLS:C0042929 {source="NCIT:C3440", source="MONDO:equivalentTo"} @@ -448862,6 +452239,7 @@ synonym: "scc of the Lip" EXACT [NCIT:C4042] synonym: "squamous cell carcinoma of the Lip" EXACT [NCIT:C4042] xref: GARD:17933 {source="Orphanet:502366"} xref: icd11.foundation:1635251327 {source="MONDO:equivalentTo", source="Orphanet:502366"} +xref: icd11.foundation:1635251327 {source="MONDO:equivalentTo"} xref: NCIT:C4042 {source="MONDO:equivalentTo"} xref: Orphanet:502366 {source="MONDO:equivalentTo"} xref: SCTID:255071008 {source="MONDO:equivalentTo"} @@ -448884,6 +452262,7 @@ synonym: "mouth floor squamous cell carcinoma" EXACT [MONDO:patterns/location] synonym: "scc of floor of mouth" EXACT [NCIT:C4041] synonym: "scc of the floor of mouth" EXACT [NCIT:C4041] synonym: "squamous cell carcinoma of the floor of mouth" EXACT [NCIT:C4041] +xref: icd11.foundation:755941113 {source="MONDO:equivalentTo"} xref: NCIT:C4041 {source="MONDO:equivalentTo"} xref: SCTID:276954004 {source="MONDO:equivalentTo"} xref: UMLS:C0280300 {source="NCIT:C4041", source="MONDO:equivalentTo"} @@ -448953,6 +452332,7 @@ synonym: "pituitary neoplasms, benign" EXACT [NCIT:C4782] synonym: "pituitary tumor, benign" EXACT [NCIT:C4782] xref: DOID:60009 {source="MONDO:equivalentTo"} xref: ICD10CM:D35.2 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1871539651 {source="MONDO:equivalentTo"} xref: NCIT:C4782 {source="MONDO:equivalentTo"} xref: SCTID:92296004 {source="MONDO:equivalentTo"} xref: UMLS:C0496901 {source="NCIT:C4782", source="MONDO:equivalentTo"} @@ -449121,6 +452501,7 @@ synonym: "benign tumor of the Epiglottis" EXACT [NCIT:C4606] synonym: "benign tumour of Epiglottis" EXACT OMO:0003005 [] synonym: "benign tumour of the Epiglottis" EXACT OMO:0003005 [] synonym: "epiglottis benign neoplasm" EXACT [MONDO:patterns/location] +xref: icd11.foundation:1549564600 {source="MONDO:equivalentTo"} xref: NCIT:C4606 {source="MONDO:equivalentTo"} xref: SCTID:92089006 {source="MONDO:equivalentTo"} xref: UMLS:C0347236 {source="NCIT:C4606", source="MONDO:equivalentTo"} @@ -449142,6 +452523,7 @@ synonym: "benign tumor of the testis" EXACT [NCIT:C3612] synonym: "benign tumour of testis" EXACT OMO:0003005 [] synonym: "benign tumour of the testis" EXACT OMO:0003005 [] synonym: "testis benign neoplasm" EXACT [MONDO:patterns/location] +xref: icd11.foundation:815021426 {source="MONDO:equivalentTo"} xref: ICD9:222.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3612 {source="MONDO:equivalentTo"} xref: SCTID:92428008 {source="MONDO:equivalentTo"} @@ -449177,6 +452559,7 @@ synonym: "stomach benign neoplasm" EXACT [MONDO:patterns/location] synonym: "stomach neoplasms, benign" EXACT [NCIT:C3599] synonym: "stomach tumors, benign" EXACT [NCIT:C3599] xref: ICD10CM:D13.1 {source="MONDO:equivalentTo"} +xref: icd11.foundation:479576735 {source="MONDO:equivalentTo"} xref: ICD9:211.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3599 {source="MONDO:equivalentTo"} xref: SCTID:92411005 {source="MONDO:equivalentTo"} @@ -449203,6 +452586,7 @@ synonym: "benign tumour of heart" EXACT OMO:0003005 [] synonym: "benign tumour of the heart" EXACT OMO:0003005 [] synonym: "heart benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D15.1 {source="MONDO:equivalentTo"} +xref: icd11.foundation:991198048 {source="MONDO:equivalentTo"} xref: ICD9:212.7 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3605 {source="MONDO:equivalentTo"} xref: SCTID:92132009 {source="MONDO:equivalentTo"} @@ -449251,6 +452635,7 @@ synonym: "benign tumor of the cornea" EXACT [NCIT:C3623] synonym: "benign tumour of cornea" EXACT OMO:0003005 [] synonym: "benign tumour of the cornea" EXACT OMO:0003005 [] synonym: "cornea benign neoplasm" EXACT [MONDO:patterns/location] +xref: icd11.foundation:568257604 {source="MONDO:equivalentTo"} xref: ICD9:224.4 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3623 {source="MONDO:equivalentTo"} xref: SCTID:92070006 {source="MONDO:equivalentTo"} @@ -449276,6 +452661,7 @@ synonym: "benign tumor of the retina" EXACT [NCIT:C3624] synonym: "benign tumour of retina" EXACT OMO:0003005 [] synonym: "benign tumour of the retina" EXACT OMO:0003005 [] synonym: "retina benign neoplasm" EXACT [MONDO:patterns/location] +xref: icd11.foundation:1433648317 {source="MONDO:equivalentTo"} xref: ICD9:224.5 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3624 {source="MONDO:equivalentTo"} xref: SCTID:92321003 {source="MONDO:equivalentTo"} @@ -449366,6 +452752,7 @@ synonym: "benign tumor of the pleura" EXACT [NCIT:C3603] synonym: "benign tumour of pleura" EXACT OMO:0003005 [] synonym: "benign tumour of the pleura" EXACT OMO:0003005 [] synonym: "pleura benign neoplasm" EXACT [MONDO:patterns/location] +xref: icd11.foundation:2142393865 {source="MONDO:equivalentTo"} xref: ICD9:212.4 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3603 {source="MONDO:equivalentTo"} xref: SCTID:92298003 {source="MONDO:equivalentTo"} @@ -449390,6 +452777,7 @@ synonym: "benign tumour of penis" EXACT OMO:0003005 [] synonym: "benign tumour of the penis" EXACT OMO:0003005 [] synonym: "penis benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D29.0 {source="MONDO:equivalentTo"} +xref: icd11.foundation:561160219 {source="MONDO:equivalentTo"} xref: ICD9:222.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3489 {source="MONDO:equivalentTo"} xref: SCTID:92286008 {source="MONDO:equivalentTo"} @@ -449464,6 +452852,7 @@ synonym: "benign tumour of the hypopharynx" EXACT OMO:0003005 [] synonym: "hypopharyngeal neoplasm, benign" EXACT [NCIT:C3596] synonym: "hypopharynx benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D10.7 {source="MONDO:equivalentTo"} +xref: icd11.foundation:196557985 {source="MONDO:equivalentTo"} xref: ICD9:210.8 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3596 {source="MONDO:equivalentTo"} xref: SCTID:92139000 {source="MONDO:equivalentTo"} @@ -449493,6 +452882,7 @@ synonym: "rectal neoplasms, benign" EXACT [NCIT:C4774] synonym: "rectal tumors, benign" EXACT [NCIT:C4774] synonym: "rectum benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D12.8 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1805730142 {source="MONDO:equivalentTo"} xref: NCIT:C4774 {source="MONDO:equivalentTo"} xref: SCTID:92318000 {source="MONDO:equivalentTo"} xref: UMLS:C0496867 {source="MONDO:equivalentTo", source="NCIT:C4774"} @@ -449527,6 +452917,7 @@ synonym: "parathyroid tumor benign" EXACT [NCIT:C3630] synonym: "parathyroid tumour benign" EXACT OMO:0003005 [] xref: DOID:60008 {source="MONDO:equivalentTo"} xref: ICD10CM:D35.1 {source="MONDO:equivalentTo"} +xref: icd11.foundation:455097662 {source="MONDO:equivalentTo"} xref: ICD9:227.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3630 {source="MONDO:equivalentTo"} xref: SCTID:92272009 {source="MONDO:equivalentTo"} @@ -449572,6 +452963,7 @@ synonym: "benign tumour of appendix" EXACT OMO:0003005 [] synonym: "benign tumour of the appendix" EXACT OMO:0003005 [] synonym: "vermiform appendix benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D12.1 {source="MONDO:equivalentTo"} +xref: icd11.foundation:7146014 {source="MONDO:equivalentTo"} xref: NCIT:C4773 {source="MONDO:equivalentTo"} xref: SCTID:91981009 {source="MONDO:equivalentTo"} xref: UMLS:C0496860 {source="MONDO:equivalentTo", source="NCIT:C4773"} @@ -449594,6 +452986,7 @@ synonym: "benign tumour of renal pelvis" EXACT OMO:0003005 [] synonym: "benign tumour of the renal pelvis" EXACT OMO:0003005 [] synonym: "renal pelvis benign neoplasm" EXACT [MONDO:patterns/location] xref: EFO:1000118 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1025909955 {source="MONDO:equivalentTo"} xref: ICD9:223.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3616 {source="MONDO:equivalentTo"} xref: SCTID:92319008 {source="MONDO:equivalentTo"} @@ -449618,6 +453011,7 @@ synonym: "benign tumor of adrenal medulla" EXACT [NCIT:C4895] synonym: "benign tumor of the adrenal medulla" EXACT [NCIT:C4895] synonym: "benign tumour of adrenal medulla" EXACT OMO:0003005 [] synonym: "benign tumour of the adrenal medulla" EXACT OMO:0003005 [] +xref: icd11.foundation:1573786673 {source="MONDO:equivalentTo"} xref: NCIT:C4895 {source="MONDO:equivalentTo"} xref: SCTID:91968002 {source="MONDO:equivalentTo"} xref: UMLS:C0686512 {source="MONDO:equivalentTo", source="NCIT:C4895"} @@ -449668,6 +453062,7 @@ synonym: "pancreas tumor, benign" EXACT [NCIT:C4612] synonym: "pancreatic neoplasm, benign" EXACT [NCIT:C4612] synonym: "pancreatic tumor, benign" EXACT [NCIT:C4612] xref: ICD10CM:D13.6 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1870352651 {source="MONDO:equivalentTo"} xref: NCIT:C4612 {source="MONDO:equivalentTo"} xref: SCTID:92264007 {source="MONDO:equivalentTo"} xref: UMLS:C0347284 {source="MONDO:equivalentTo", source="NCIT:C4612"} @@ -449714,6 +453109,7 @@ synonym: "benign tumour of scrotum" EXACT OMO:0003005 [] synonym: "benign tumour of the scrotum" EXACT OMO:0003005 [] synonym: "scrotum benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D29.4 {source="MONDO:equivalentTo"} +xref: icd11.foundation:640770928 {source="MONDO:equivalentTo"} xref: ICD9:222.4 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3615 {source="MONDO:equivalentTo"} xref: SCTID:92336000 {source="MONDO:equivalentTo"} @@ -449735,6 +453131,7 @@ synonym: "benign tumor of the epididymis" EXACT [NCIT:C3614] synonym: "benign tumour of epididymis" EXACT OMO:0003005 [] synonym: "benign tumour of the epididymis" EXACT OMO:0003005 [] synonym: "epididymis benign neoplasm" EXACT [MONDO:patterns/location] +xref: icd11.foundation:1440739556 {source="MONDO:equivalentTo"} xref: ICD9:222.3 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3614 {source="MONDO:equivalentTo"} xref: SCTID:92088003 {source="MONDO:equivalentTo"} @@ -449777,6 +453174,7 @@ synonym: "benign tumor of the nasal cavity" EXACT [NCIT:C4603] synonym: "benign tumour of nasal cavity" EXACT OMO:0003005 [] synonym: "benign tumour of the nasal cavity" EXACT OMO:0003005 [] synonym: "nasal cavity benign neoplasm" EXACT [MONDO:patterns/location] +xref: icd11.foundation:44101401 {source="MONDO:equivalentTo"} xref: ICD9:212.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4603 {source="MONDO:equivalentTo"} xref: SCTID:92241005 {source="MONDO:equivalentTo"} @@ -449801,6 +453199,7 @@ synonym: "benign tumour of tongue" EXACT OMO:0003005 [] synonym: "tongue benign neoplasm" EXACT [MONDO:patterns/location] synonym: "tongue neoplasm, benign" EXACT [NCIT:C3592] xref: ICD10CM:D10.1 {source="MONDO:equivalentTo"} +xref: icd11.foundation:487744161 {source="MONDO:equivalentTo"} xref: ICD9:210.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3592 {source="MONDO:equivalentTo"} xref: SCTID:92443005 {source="MONDO:equivalentTo"} @@ -449857,6 +453256,7 @@ synonym: "benign tumour of the nasopharynx" EXACT OMO:0003005 [] synonym: "nasopharyngeal neoplasm, benign" EXACT [NCIT:C3595] synonym: "nasopharynx benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D10.6 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1862070581 {source="MONDO:equivalentTo"} xref: ICD9:210.7 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3595 {source="MONDO:equivalentTo"} xref: SCTID:188800003 {source="MONDO:equivalentTo"} @@ -449881,6 +453281,7 @@ synonym: "benign tumour of oropharynx" EXACT OMO:0003005 [] synonym: "benign tumour of the oropharynx" EXACT OMO:0003005 [] synonym: "oropharyngeal neoplasm benign" EXACT [NCIT:C4604] synonym: "oropharynx benign neoplasm" EXACT [MONDO:patterns/location] +xref: icd11.foundation:441557450 {source="MONDO:equivalentTo"} xref: ICD9:210.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4604 {source="MONDO:equivalentTo"} xref: SCTID:92259008 {source="MONDO:equivalentTo"} @@ -449927,6 +453328,7 @@ synonym: "benign tumor of the submandibular gland" EXACT [NCIT:C4891] synonym: "benign tumour of submandibular gland" EXACT OMO:0003005 [] synonym: "benign tumour of the submandibular gland" EXACT OMO:0003005 [] synonym: "submandibular gland benign neoplasm" EXACT [MONDO:patterns/location] +xref: icd11.foundation:564841249 {source="MONDO:equivalentTo"} xref: NCIT:C4891 {source="MONDO:equivalentTo"} xref: SCTID:92415001 {source="MONDO:equivalentTo"} xref: UMLS:C0685988 {source="NCIT:C4891", source="MONDO:equivalentTo"} @@ -449948,6 +453350,7 @@ synonym: "benign tumor of the middle Ear" EXACT [NCIT:C4602] synonym: "benign tumour of middle Ear" EXACT OMO:0003005 [] synonym: "benign tumour of the middle Ear" EXACT OMO:0003005 [] synonym: "middle ear benign neoplasm" EXACT [MONDO:patterns/location] +xref: icd11.foundation:1119231856 {source="MONDO:equivalentTo"} xref: ICD9:212.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4602 {source="MONDO:equivalentTo"} xref: SCTID:92218002 {source="MONDO:equivalentTo"} @@ -449972,6 +453375,7 @@ synonym: "benign tumor of the frontal sinus" EXACT [NCIT:C4420] synonym: "benign tumour of frontal sinus" EXACT OMO:0003005 [] synonym: "benign tumour of the frontal sinus" EXACT OMO:0003005 [] synonym: "frontal sinus benign neoplasm" EXACT [MONDO:patterns/location] +xref: icd11.foundation:399551439 {source="MONDO:equivalentTo"} xref: ICD9:212.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4420 {source="MONDO:equivalentTo"} xref: SCTID:92115005 {source="MONDO:equivalentTo"} @@ -450014,6 +453418,7 @@ synonym: "benign tumour of the maxillary antrum" EXACT OMO:0003005 [] synonym: "benign tumour of the maxillary sinus" EXACT OMO:0003005 [] synonym: "benign tumour of the maxillofacial sinus" EXACT OMO:0003005 [] synonym: "maxillary sinus benign neoplasm" EXACT [MONDO:patterns/location] +xref: icd11.foundation:1738455612 {source="MONDO:equivalentTo"} xref: ICD9:212.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4414 {source="MONDO:equivalentTo"} xref: SCTID:92211008 {source="MONDO:equivalentTo"} @@ -450036,6 +453441,7 @@ synonym: "benign tumor of the iris" EXACT [NCIT:C4555] synonym: "benign tumour of iris" EXACT OMO:0003005 [] synonym: "benign tumour of the iris" EXACT OMO:0003005 [] synonym: "iris benign neoplasm" EXACT [MONDO:patterns/location] +xref: icd11.foundation:549962833 {source="MONDO:equivalentTo"} xref: ICD9:224.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4555 {source="MONDO:equivalentTo"} xref: SCTID:189151003 {source="MONDO:equivalentTo"} @@ -450058,6 +453464,7 @@ synonym: "benign tumor of the ciliary body" EXACT [NCIT:C4779] synonym: "benign tumour of ciliary body" EXACT OMO:0003005 [] synonym: "benign tumour of the ciliary body" EXACT OMO:0003005 [] synonym: "ciliary body benign neoplasm" EXACT [MONDO:patterns/location] +xref: icd11.foundation:1138156221 {source="MONDO:equivalentTo"} xref: ICD9:224.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4779 {source="MONDO:equivalentTo"} xref: SCTID:92060009 {source="MONDO:equivalentTo"} @@ -450079,6 +453486,7 @@ synonym: "benign tumor of the choroid" EXACT [NCIT:C3625] synonym: "benign tumour of choroid" EXACT OMO:0003005 [] synonym: "benign tumour of the choroid" EXACT OMO:0003005 [] synonym: "optic choroid benign neoplasm" EXACT [MONDO:patterns/location] +xref: icd11.foundation:809005353 {source="MONDO:equivalentTo"} xref: ICD9:224.6 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3625 {source="MONDO:equivalentTo"} xref: SCTID:92059004 {source="MONDO:equivalentTo"} @@ -450101,6 +453509,7 @@ synonym: "benign tumor of the lacrimal gland" EXACT [NCIT:C3621] synonym: "benign tumour of lacrimal gland" EXACT OMO:0003005 [] synonym: "benign tumour of the lacrimal gland" EXACT OMO:0003005 [] synonym: "lacrimal gland benign neoplasm" EXACT [MONDO:patterns/location] +xref: icd11.foundation:1163790602 {source="MONDO:equivalentTo"} xref: ICD9:224.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3621 {source="MONDO:equivalentTo"} xref: SCTID:92169007 {source="MONDO:equivalentTo"} @@ -450256,6 +453665,7 @@ synonym: "benign tumour of the parotid" EXACT OMO:0003005 [] synonym: "benign tumour of the parotid gland" EXACT OMO:0003005 [] synonym: "parotid gland benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D11.0 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1688299444 {source="MONDO:equivalentTo"} xref: NCIT:C4770 {source="MONDO:equivalentTo"} xref: SCTID:92279000 {source="MONDO:equivalentTo"} xref: UMLS:C0496857 {source="NCIT:C4770", source="MONDO:equivalentTo"} @@ -450300,6 +453710,7 @@ synonym: "benign tumour of the Lip" EXACT OMO:0003005 [] synonym: "lip benign neoplasm" EXACT [MONDO:patterns/location] synonym: "lip neoplasm, benign" EXACT [NCIT:C3591] xref: ICD10CM:D10.0 {source="MONDO:equivalentTo"} +xref: icd11.foundation:2019143477 {source="MONDO:equivalentTo"} xref: ICD9:210.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3591 {source="MONDO:equivalentTo"} xref: SCTID:92185002 {source="MONDO:equivalentTo"} @@ -450330,6 +453741,7 @@ synonym: "benign tumour of cerebrum" EXACT OMO:0003005 [] synonym: "benign tumour of the cerebral hemispheres" EXACT OMO:0003005 [] synonym: "benign tumour of the cerebrum" EXACT OMO:0003005 [] synonym: "telencephalon benign neoplasm" EXACT [MONDO:patterns/location] +xref: icd11.foundation:1857115524 {source="MONDO:equivalentTo"} xref: NCIT:C8548 {source="MONDO:equivalentTo"} xref: SCTID:275269004 {source="MONDO:equivalentTo"} xref: UMLS:C0686378 {source="MONDO:equivalentTo", source="NCIT:C8548"} @@ -450355,6 +453767,7 @@ synonym: "benign tumour of placenta" EXACT OMO:0003005 [] synonym: "benign tumour of the placenta" EXACT OMO:0003005 [] synonym: "placenta benign neoplasm" EXACT [MONDO:patterns/location] synonym: "placental neoplasms, benign" EXACT [NCIT:C8545] +xref: icd11.foundation:194589255 {source="MONDO:equivalentTo"} xref: ICD9:219.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C8545 {source="MONDO:equivalentTo"} xref: SCTID:92297008 {source="MONDO:equivalentTo"} @@ -450380,6 +453793,7 @@ synonym: "cerebellar neoplasms, benign" EXACT [NCIT:C4955] synonym: "cerebellum benign neoplasm" EXACT [MONDO:patterns/location] synonym: "neoplasms, benign, cerebellar" EXACT [NCIT:C4955] synonym: "neoplasms, cerebellar, benign" EXACT [NCIT:C4955] +xref: icd11.foundation:664460646 {source="MONDO:equivalentTo"} xref: NCIT:C4955 {source="MONDO:equivalentTo"} xref: SCTID:92050000 {source="MONDO:equivalentTo"} xref: UMLS:C0750995 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C4955"} @@ -450447,6 +453861,7 @@ synonym: "gallbladder benign neoplasm" EXACT [NCIT:C4440] synonym: "gallbladder benign tumor" EXACT [NCIT:C4440] synonym: "gallbladder benign tumour" EXACT OMO:0003005 [] xref: DOID:0080640 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1439916526 {source="MONDO:equivalentTo"} xref: NCIT:C4440 {source="MONDO:equivalentTo"} xref: SCTID:92117002 {source="MONDO:equivalentTo"} xref: UMLS:C0345912 {source="NCIT:C4440", source="MONDO:equivalentTo"} @@ -450468,6 +453883,7 @@ synonym: "benign tumor of the endocardium" EXACT [NCIT:C4608] synonym: "benign tumour of endocardium" EXACT OMO:0003005 [] synonym: "benign tumour of the endocardium" EXACT OMO:0003005 [] synonym: "endocardium benign neoplasm" EXACT [MONDO:patterns/location] +xref: icd11.foundation:1776419379 {source="MONDO:equivalentTo"} xref: NCIT:C4608 {source="MONDO:equivalentTo"} xref: SCTID:92083007 {source="MONDO:equivalentTo"} xref: UMLS:C0347254 {source="NCIT:C4608", source="MONDO:equivalentTo"} @@ -450491,6 +453907,7 @@ synonym: "benign tumour of the spinal cord" EXACT OMO:0003005 [] synonym: "spinal cord benign neoplasm" EXACT [MONDO:patterns/location] synonym: "spinal cord neoplasm, benign" EXACT [NCIT:C3627] xref: ICD10CM:D33.4 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1588169218 {source="MONDO:equivalentTo"} xref: ICD9:225.3 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3627 {source="MONDO:equivalentTo"} xref: SCTID:92405007 {source="MONDO:equivalentTo"} @@ -450554,6 +453971,7 @@ synonym: "benign tumor of the epicardium" EXACT [NCIT:C8535] synonym: "benign tumour of epicardium" EXACT OMO:0003005 [] synonym: "benign tumour of the epicardium" EXACT OMO:0003005 [] synonym: "epicardium benign neoplasm" EXACT [MONDO:patterns/location] +xref: icd11.foundation:1295571347 {source="MONDO:equivalentTo"} xref: NCIT:C8535 {source="MONDO:equivalentTo"} xref: SCTID:92087008 {source="MONDO:equivalentTo"} xref: UMLS:C0685115 {source="MONDO:equivalentTo", source="NCIT:C8535"} @@ -450576,6 +453994,7 @@ synonym: "benign tumor of the myocardium" EXACT [NCIT:C4607] synonym: "benign tumour of myocardium" EXACT OMO:0003005 [] synonym: "benign tumour of the myocardium" EXACT OMO:0003005 [] synonym: "myocardium benign neoplasm" EXACT [MONDO:patterns/location] +xref: icd11.foundation:2097885721 {source="MONDO:equivalentTo"} xref: NCIT:C4607 {source="MONDO:equivalentTo"} xref: SCTID:92238001 {source="MONDO:equivalentTo"} xref: UMLS:C0347253 {source="NCIT:C4607", source="MONDO:equivalentTo"} @@ -450599,6 +454018,7 @@ synonym: "benign tumour of prostate" EXACT OMO:0003005 [] synonym: "benign tumour of the prostate" EXACT OMO:0003005 [] synonym: "prostate gland benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D29.1 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1144614287 {source="MONDO:equivalentTo"} xref: ICD9:222.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3613 {source="MONDO:equivalentTo"} xref: SCTID:92308005 {source="MONDO:equivalentTo"} @@ -450625,6 +454045,7 @@ synonym: "benign tumor of adrenal gland" EXACT [NCIT:C3629] synonym: "benign tumor of the adrenal gland" EXACT [NCIT:C3629] synonym: "benign tumour of adrenal gland" EXACT OMO:0003005 [] synonym: "benign tumour of the adrenal gland" EXACT OMO:0003005 [] +xref: icd11.foundation:2121003176 {source="MONDO:equivalentTo"} xref: ICD9:227.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3629 {source="MONDO:equivalentTo"} xref: SCTID:91967007 {source="MONDO:equivalentTo"} @@ -450653,6 +454074,7 @@ synonym: "benign tumour of the Thymus" EXACT OMO:0003005 [] synonym: "benign tumour of Thymus" EXACT OMO:0003005 [] synonym: "thymus benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D15.0 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1583331018 {source="MONDO:equivalentTo"} xref: ICD9:212.6 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C4458 {source="MONDO:equivalentTo"} xref: SCTID:92437008 {source="MONDO:equivalentTo"} @@ -450679,6 +454101,7 @@ synonym: "benign tumour of tonsil" EXACT OMO:0003005 [] synonym: "tonsil benign neoplasm" EXACT [MONDO:patterns/location] synonym: "tonsillar neoplasm, benign" EXACT [NCIT:C3594] xref: ICD10CM:D10.4 {source="MONDO:equivalentTo"} +xref: icd11.foundation:2132438112 {source="MONDO:equivalentTo"} xref: ICD9:210.5 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3594 {source="MONDO:equivalentTo"} xref: SCTID:92263001 {source="MONDO:equivalentTo"} @@ -450702,6 +454125,7 @@ synonym: "benign tumor of the pericardium" EXACT [NCIT:C8536] synonym: "benign tumour of pericardium" EXACT OMO:0003005 [] synonym: "benign tumour of the pericardium" EXACT OMO:0003005 [] synonym: "pericardium benign neoplasm" EXACT [MONDO:patterns/location] +xref: icd11.foundation:1296244385 {source="MONDO:equivalentTo"} xref: NCIT:C8536 {source="MONDO:equivalentTo"} xref: SCTID:92289001 {source="MONDO:equivalentTo"} xref: UMLS:C0685118 {source="MONDO:equivalentTo", source="NCIT:C8536"} @@ -450756,6 +454180,7 @@ synonym: "benign tumor of the glottis" EXACT [NCIT:C4605] synonym: "benign tumour of glottis" EXACT OMO:0003005 [] synonym: "benign tumour of the glottis" EXACT OMO:0003005 [] synonym: "glottis benign neoplasm" EXACT [MONDO:patterns/location] +xref: icd11.foundation:1704448187 {source="MONDO:equivalentTo"} xref: NCIT:C4605 {source="MONDO:equivalentTo"} xref: SCTID:92123007 {source="MONDO:equivalentTo"} xref: UMLS:C0347234 {source="MONDO:equivalentTo", source="NCIT:C4605"} @@ -450781,6 +454206,7 @@ synonym: "benign tumour of the trachea" EXACT OMO:0003005 [] synonym: "benign tumour of trachea" EXACT OMO:0003005 [] synonym: "trachea benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D14.2 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1396826912 {source="MONDO:equivalentTo"} xref: ICD9:212.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3602 {source="MONDO:equivalentTo"} xref: SCTID:92446002 {source="MONDO:equivalentTo"} @@ -450829,6 +454255,7 @@ synonym: "benign tumour of floor of mouth" EXACT OMO:0003005 [] synonym: "benign tumour of the floor of the mouth" EXACT OMO:0003005 [] synonym: "mouth floor benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D10.2 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1774137950 {source="MONDO:equivalentTo"} xref: ICD9:210.3 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3593 {source="MONDO:equivalentTo"} xref: SCTID:92109005 {source="MONDO:equivalentTo"} @@ -450852,6 +454279,7 @@ synonym: "benign tumour of mediastinum" EXACT OMO:0003005 [] synonym: "benign tumour of the mediastinum" EXACT OMO:0003005 [] synonym: "mediastinum benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D15.2 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1337535393 {source="MONDO:equivalentTo"} xref: ICD9:212.5 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C3604 {source="MONDO:equivalentTo"} xref: SCTID:92214000 {source="MONDO:equivalentTo"} @@ -450917,6 +454345,7 @@ synonym: "benign tumor of the buccal mucosa" EXACT [NCIT:C4406] synonym: "benign tumour of buccal mucosa" EXACT OMO:0003005 [] synonym: "benign tumour of the buccal mucosa" EXACT OMO:0003005 [] synonym: "buccal mucosa benign neoplasm" EXACT [MONDO:patterns/location] +xref: icd11.foundation:1053814432 {source="MONDO:equivalentTo"} xref: ICD9:210.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4406 {source="MONDO:equivalentTo"} xref: SCTID:92039003 {source="MONDO:equivalentTo"} @@ -451209,6 +454638,7 @@ synonym: "nasopharyngeal undifferentiated carcinoma" EXACT [NCIT:C8023] synonym: "nasopharynx undifferentiated carcinoma" EXACT [MONDO:patterns/location] synonym: "undifferentiated carcinoma of the nasopharynx" EXACT [NCIT:C8023] synonym: "undifferentiated nasopharyngeal throat cancer" EXACT [NCIT:C8023] +xref: icd11.foundation:584112926 {source="MONDO:equivalentTo"} xref: NCIT:C8023 {source="MONDO:equivalentTo"} xref: SCTID:422541001 {source="MONDO:equivalentTo"} xref: UMLS:C0279748 {source="NCIT:C8023", source="MONDO:equivalentTo"} @@ -451434,6 +454864,7 @@ synonym: "Transverse myelopathy syndrome" RELATED [UMLS:C0026976] synonym: "transverse myelopathy syndrome" EXACT [] synonym: "Transverse Myelopathy Syndromes" RELATED [MESH:D009188] xref: DOID:0080743 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1328350091 {source="MONDO:equivalentTo"} xref: ICD9:323.9 xref: MedDRA:10028527 xref: MESH:D009188 {source="UMLS:C0026976"} @@ -452087,6 +455518,7 @@ synonym: "mammalian vulva varicose disease" EXACT [MONDO:patterns/location] synonym: "varicose disease of mammalian vulva" EXACT [MONDO:design_pattern] xref: HP:0100677 {source="MONDO:otherHierarchy"} xref: ICD10CM:I86.3 {source="MONDO:equivalentTo"} +xref: icd11.foundation:53329171 {source="MONDO:equivalentTo"} xref: ICD9:456.6 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:48868008 {source="HP:0100677", source="MONDO:equivalentTo"} xref: UMLS:C0155796 {source="HP:0100677", source="MONDO:equivalentTo"} @@ -452332,6 +455764,7 @@ synonym: "atherosclerosis of coronary artery" BROAD [] synonym: "coronary artery arteriosclerosis (disease)" EXACT [MONDO:patterns/location] synonym: "coronary artery arteriosclerosis disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "coronary atherosclerosis" EXACT [NCIT:C35505] +xref: icd11.foundation:1280712786 {source="MONDO:equivalentTo"} xref: ICD9:414.00 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C35505 {source="MONDO:equivalentTo"} xref: SCTID:443502000 {source="MONDO:equivalentTo"} @@ -452788,6 +456221,7 @@ id: MONDO:0021722 name: vulvodynia def: "Vulvodynia is a chronic pain syndrome that affects the vulvar area and occurs without an identifiable cause. Symptoms typically include a feeling of burning or irritation. For the diagnosis to be made symptoms must last at least 3 months." [Wikipedia:Vulvodynia] synonym: "vulvodynia" EXACT [] +xref: icd11.foundation:1539507119 {source="MONDO:equivalentTo"} xref: ICD9:625.70 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D056650 {source="MONDO:equivalentTo"} xref: SCTID:238968009 {source="MONDO:equivalentTo"} @@ -452874,6 +456308,7 @@ synonym: "Prurigo" RELATED [MESH:D011536] synonym: "prurigo" EXACT [] synonym: "Pruritic rash" RELATED [UMLS:C0033771] synonym: "pruritic rash" EXACT [] +xref: icd11.foundation:268810206 {source="MONDO:equivalentTo"} xref: ICD9:698.2 xref: ICD9:698.8 xref: MESH:D011536 {source="MONDO:equivalentTo", source="UMLS:C0033771"} @@ -452905,6 +456340,7 @@ synonym: "abuse dwarfism syndrome" RELATED [GARD:0009440] synonym: "child abuse dwarfism" RELATED [GARD:0009440, MESH:C535569] synonym: "Kaspar Hauser syndrome" RELATED [Wikipedia:Psychosocial_short_stature] synonym: "psychosocial dwarfism" RELATED [GARD:0009440, MESH:C535569] +xref: icd11.foundation:2088216390 {source="MONDO:equivalentTo"} xref: MESH:C535569 {source="MONDO:equivalentTo"} xref: SCTID:39465007 {source="MONDO:equivalentTo"} xref: UMLS:C1455735 {source="MONDO:equivalentTo", source="GARD:0009440"} @@ -452948,6 +456384,7 @@ synonym: "Hydronephrosis, Infected" RELATED [MESH:D053018] synonym: "Infected Hydronephrosis" RELATED [MESH:D053018] synonym: "Pyonephrosis" RELATED [MESH:D053018, NCIT:C123032] synonym: "pyonephrosis" EXACT [NCIT:C123032] +xref: icd11.foundation:809412333 {source="MONDO:equivalentTo"} xref: MESH:D053018 {source="MONDO:equivalentTo", source="UMLS:C0034216"} xref: NCIT:C123032 {source="MONDO:equivalentTo", source="UMLS:C0034216"} xref: SCTID:48631008 {source="MONDO:equivalentTo", source="UMLS:C0034216"} @@ -453470,6 +456907,7 @@ def: "Aquagenic pruritus is a conditionin which contact with water of any temper subset: rare synonym: "aquagenic pruritus" EXACT [] synonym: "water-induced itching" RELATED [] +xref: icd11.foundation:1090223712 {source="MONDO:equivalentTo"} xref: ICD9:698.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:238695001 {source="MONDO:equivalentTo"} xref: UMLS:C0406409 {source="GARD:0010278", source="MONDO:equivalentTo"} @@ -453544,6 +456982,7 @@ name: tracheobronchitis def: "Inflammation of the tracheobronchial tree." [NCIT:C122784] synonym: "Tracheobronchitis" RELATED [NCIT:C122784] synonym: "tracheobronchitis" EXACT [NCIT:C122784] +xref: icd11.foundation:1889351414 {source="MONDO:equivalentTo"} xref: NCIT:C122784 {source="MONDO:equivalentTo", source="UMLS:C0040586"} xref: SCTID:13617004 {source="MONDO:equivalentTo", source="UMLS:C0040586"} xref: UMLS:C0040586 {source="MONDO:equivalentTo"} @@ -453718,6 +457157,7 @@ synonym: "tuberculosis of skin" EXACT [] synonym: "Tuberculosis, Cutaneous" RELATED [MESH:D014382] synonym: "Tuberculosis, Skin" RELATED [MESH:D014382] xref: EFO:1001443 {source="MONDO:equivalentTo"} +xref: icd11.foundation:625292625 {source="MONDO:equivalentTo"} xref: MESH:D014382 {source="UMLS:C0041309"} xref: SCTID:66986005 {source="MONDO:equivalentTo", source="UMLS:C0041309"} xref: UMLS:C0041309 {source="MONDO:equivalentTo"} @@ -453800,6 +457240,7 @@ def: "An acute or chronic inflammatory process affecting the ureter." [NCIT:C786 synonym: "Inflammation of ureter" RELATED [UMLS:C0041959] synonym: "Ureteritis" RELATED [NCIT:C78666] synonym: "ureteritis" EXACT [NCIT:C78666] +xref: icd11.foundation:817532938 {source="MONDO:equivalentTo"} xref: NCIT:C78666 {source="MONDO:equivalentTo", source="UMLS:C0041959"} xref: SCTID:111405003 {source="MONDO:equivalentTo", source="UMLS:C0041959"} xref: UMLS:C0041959 {source="MONDO:equivalentTo"} @@ -453864,6 +457305,7 @@ def: "A type of pilosebaceous hamartoma characterized by basal cell epitheliomat subset: rare synonym: "basal cell nevus with comedones" EXACT [] synonym: "basaloid follicular hamartoma" EXACT [] +xref: icd11.foundation:648125144 {source="MONDO:equivalentTo"} xref: ICD9:706.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C4749 {source="MONDO:equivalentTo"} xref: SCTID:254705003 {source="MONDO:equivalentTo"} @@ -454208,6 +457650,7 @@ def: "Catamenial pneumothorax is an extremely rare condition that affects women. subset: rare synonym: "catamenial pneumothorax" EXACT [] synonym: "premenstrual pneumothorax" RELATED [] +xref: icd11.foundation:1744257132 {source="MONDO:equivalentTo"} xref: MESH:C538279 {source="MONDO:equivalentTo"} xref: SCTID:233642001 {source="MONDO:equivalentTo"} xref: UMLS:C0340007 {source="GARD:0009858", source="MONDO:equivalentTo"} @@ -454221,6 +457664,7 @@ def: "An infectious or non-infectious chronic inflammatory process that affects synonym: "Chronic Prostatitis" RELATED [NCIT:C26930] synonym: "Chronic prostatitis" RELATED [UMLS:C0085696] synonym: "chronic prostatitis" EXACT [NCIT:C26930] +xref: icd11.foundation:249426483 {source="MONDO:equivalentTo"} xref: ICD9:601.1 xref: NCIT:C26930 {source="MONDO:equivalentTo", source="UMLS:C0085696"} xref: SCTID:19905009 {source="MONDO:equivalentTo", source="UMLS:C0085696"} @@ -454300,6 +457744,7 @@ synonym: "chromhidrosis" EXACT [] synonym: "secretion of colored sweat" RELATED [] synonym: "secretion of coloured sweat" RELATED OMO:0003005 [] xref: ICD10CM:L75.1 {source="MONDO:equivalentTo"} +xref: icd11.foundation:864449620 {source="MONDO:equivalentTo"} xref: ICD9:705.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:26147006 {source="MONDO:equivalentTo"} is_a: MONDO:0005093 {source="MONDO:Redundant"} ! skin disorder @@ -454478,6 +457923,7 @@ id: MONDO:0022205 name: pustular psoriasis synonym: "Pustular psoriasis" RELATED [UMLS:C0152081] synonym: "pustular psoriasis" EXACT [] +xref: icd11.foundation:64081271 {source="MONDO:equivalentTo"} xref: ICD9:696.1 xref: MEDGEN:508876 {source="UMLS:C0152081"} xref: SCTID:200973000 {source="UMLS:C0152081", source="MONDO:equivalentTo"} @@ -454549,6 +457995,7 @@ name: colpocephaly alt_id: MONDO:0022808 def: "Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken." [GARD:0010008] subset: rare +xref: icd11.foundation:845275248 {source="MONDO:equivalentTo"} xref: MESH:C535973 {source="MONDO:equivalentTo"} xref: SCTID:253160006 {source="MONDO:equivalentTo"} xref: UMLS:C0431384 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0010008"} @@ -455311,6 +458758,7 @@ name: autoimmune inner ear disease def: "A syndrome characterized by rapidly progressive sensorineural hearing loss (SNHL), that is often bilateral, and is potentially reversible." [https://orcid.org/0000-0001-5208-3432, PMID:26485595] subset: rare synonym: "AIED" RELATED ABBREVIATION [GARD:0008582] +xref: icd11.foundation:1392879169 {source="MONDO:equivalentTo"} intersection_of: MONDO:0002467 ! inner ear disorder intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity @@ -456563,6 +460011,7 @@ synonym: "classic Kaposi's sarcoma" EXACT [NCIT:C9112] synonym: "Kaposi sarcoma classical type" EXACT [NCIT:C9112] synonym: "Kaposi sarcoma, classic" EXACT [NCIT:C9112] synonym: "Kaposi's sarcoma, classical type" EXACT [NCIT:C9112] +xref: icd11.foundation:1595913346 {source="MONDO:equivalentTo"} xref: NCIT:C9112 {source="MONDO:equivalentTo"} xref: UMLS:C0279084 {source="NCIT:C9112", source="MONDO:equivalentTo"} is_a: MONDO:0005055 {source="NCIT:C9112/inferred"} ! Kaposi's sarcoma @@ -456662,6 +460111,7 @@ id: MONDO:0022792 name: coccygodynia def: "Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more commoncausesare direct falls and injury." [GARD:0005168] synonym: "coccydynia" RELATED [GARD:0005168] +xref: icd11.foundation:718979238 {source="MONDO:equivalentTo"} xref: UMLS:C0009193 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0005168"} is_a: MONDO:0700057 ! neurological pain disorder relationship: disease_has_location UBERON:0001350 ! coccyx @@ -456708,6 +460158,7 @@ synonym: "cold contact urticaria" RELATED [GARD:0006131] synonym: "primary idiopathic cold urticaria" RELATED [GARD:0006131] synonym: "urticaria idiopathic cold" RELATED [GARD:0006131] xref: EFO:1001881 {source="MONDO:equivalentTo"} +xref: icd11.foundation:915116593 {source="MONDO:equivalentTo"} xref: SCTID:74774004 {source="MONDO:equivalentTo"} xref: UMLS:C0221207 {source="MONDO:equivalentTo"} is_a: MONDO:0005492 {source="EFO:1001881"} ! urticaria @@ -456882,6 +460333,7 @@ subset: orphanet_rare {source="Orphanet:519384"} subset: rare synonym: "CCE" RELATED ABBREVIATION [GARD:0010617] xref: GARD:10617 {source="Orphanet:519384"} +xref: icd11.foundation:2061090928 {source="MONDO:equivalentTo"} xref: Orphanet:519384 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -457504,6 +460956,7 @@ subset: rare synonym: "Desmoplastic astrocytoma of infancy" EXACT [NCIT:C9476] synonym: "Desmoplastic infantile astrocytoma" EXACT [NCIT:C9476] synonym: "DIA" EXACT ABBREVIATION [GARD:0009617, NCIT:C9476, ONCOTREE:DIA] +xref: icd11.foundation:902114904 {source="MONDO:equivalentTo"} xref: ICDO:9412/1 {source="NCIT:C9476"} xref: NCIT:C9476 {source="MONDO:equivalentTo"} xref: ONCOTREE:DIA {source="MONDO:equivalentTo"} @@ -457521,6 +460974,7 @@ subset: rare synonym: "Desmoplastic infantile ganglioglioma" EXACT [NCIT:C4738] synonym: "DIG" EXACT ABBREVIATION [GARD:0008648, NCIT:C4738, ONCOTREE:DIG] xref: DOID:0081259 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1839274787 {source="MONDO:equivalentTo"} xref: NCIT:C4738 {source="MONDO:equivalentTo"} xref: ONCOTREE:DIG {source="MONDO:equivalentTo"} xref: UMLS:C1321878 {source="NCIT:C4738", source="GARD:0008648", source="MONDO:equivalentTo"} @@ -457629,6 +461083,7 @@ synonym: "diffuse idiopathic pulmonary neuroendocrine cell hyperplasia" EXACT [N synonym: "DIP-NECH" EXACT [NCIT:C7437] synonym: "DIPNECH" EXACT ABBREVIATION [GARD:0010780, NCIT:C7437] xref: GARD:10780 {source="Orphanet:617916"} +xref: icd11.foundation:1480946725 {source="MONDO:equivalentTo"} xref: NCIT:C7437 {source="MONDO:equivalentTo"} xref: Orphanet:617916 {source="MONDO:equivalentTo"} xref: UMLS:C1333291 {source="MONDO:equivalentTo", source="NCIT:C7437"} @@ -457776,6 +461231,7 @@ synonym: "pulmonary dysmaturity" RELATED [] synonym: "Pulmonary dysmaturity syndrome" RELATED [GARD:0010495] synonym: "Wilson-Mikity syndrome" EXACT [UMLS:C0270171] synonym: "wilson-mikity syndrome" EXACT [] +xref: icd11.foundation:846899990 {source="MONDO:equivalentTo"} xref: SCTID:51577008 {source="MONDO:equivalentTo", source="UMLS:C0270171"} xref: UMLS:C0270171 {source="GARD:0010495", source="MONDO:equivalentTo"} is_a: MONDO:0005275 ! lung disorder @@ -458080,6 +461536,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "African Kaposi sarcoma" RELATED [GARD:0010431] synonym: "African/endemic Kaposi sarcoma" RELATED [GARD:0010431] +xref: icd11.foundation:509381237 {source="MONDO:equivalentTo"} is_a: MONDO:0005055 ! Kaposi's sarcoma property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10431/endemic-kaposi-sarcoma" xsd:anyURI {source="GARD:0010431"} @@ -458142,6 +461599,7 @@ synonym: "eosinophilic folliculitis, pustular" RELATED [GARD:0008534, MESH:C5359 synonym: "EPF" RELATED ABBREVIATION [GARD:0008534] synonym: "Ofuji disease" RELATED [GARD:0008534, MESH:C535953] synonym: "Ofuji's disease" RELATED [GARD:0008534, MESH:C535953] +xref: icd11.foundation:1653155576 {source="MONDO:equivalentTo"} xref: ICD9:704.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C535953 {source="MONDO:equivalentTo"} xref: SCTID:95333004 {source="MONDO:equivalentTo"} @@ -458205,6 +461663,7 @@ synonym: "exogenous ochronosis" EXACT [MESH:C531762] synonym: "ochronosis, acquired" RELATED [GARD:0010757] synonym: "ocular ochronosis" RELATED [MESH:C531762] synonym: "pseudo-ochronosis" RELATED [MESH:C531762] +xref: icd11.foundation:835922687 {source="MONDO:equivalentTo"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:C531762 {source="MONDO:equivalentTo"} xref: SCTID:410041002 {source="MONDO:equivalentTo"} @@ -458381,6 +461840,7 @@ synonym: "febrile ulceronecrotic pityriasis lichenoides acuta" EXACT [] synonym: "FUMHD" RELATED ABBREVIATION [GARD:0009516] synonym: "ulceronecrotic Mucha-Habermann disease" RELATED [GARD:0009516, MESH:C537077] synonym: "variant of Mucha-Habermann disease" RELATED [GARD:0009516] +xref: icd11.foundation:1408299147 {source="MONDO:equivalentTo"} xref: MESH:C537077 {source="MONDO:equivalentTo"} xref: SCTID:402860008 {source="MONDO:equivalentTo"} xref: UMLS:C1274297 {source="GARD:0009516", source="MONDO:equivalentTo"} @@ -458504,6 +461964,7 @@ def: "A type of abdominal tuberculosis that is characterized by accumulation of subset: inferred_rare subset: rare synonym: "tuberculous ascites" EXACT [NCIT:C27076, UMLS:C0275919] +xref: icd11.foundation:1747509566 {source="MONDO:equivalentTo"} xref: NCIT:C27076 {source="MONDO:equivalentTo", source="UMLS:C0275919"} xref: SCTID:4501007 {source="MONDO:equivalentTo", source="UMLS:C0275919"} xref: UMLS:C0275919 {source="MONDO:equivalentTo"} @@ -458564,6 +462025,7 @@ subset: rare synonym: "Viral Myocarditis" RELATED [NCIT:C128381] synonym: "Viral myocarditis" RELATED [UMLS:C0276138] synonym: "viral myocarditis" EXACT [NCIT:C128381] +xref: icd11.foundation:231270764 {source="MONDO:equivalentTo"} xref: NCIT:C128381 {source="MONDO:equivalentTo", source="UMLS:C0276138"} xref: SCTID:89141000 {source="MONDO:equivalentTo", source="UMLS:C0276138"} xref: UMLS:C0276138 {source="MONDO:equivalentTo"} @@ -458581,6 +462043,7 @@ subset: rare synonym: "Viral Pericarditis" RELATED [NCIT:C128405] synonym: "Viral pericarditis" RELATED [UMLS:C0276139] synonym: "viral pericarditis" EXACT [NCIT:C128405] +xref: icd11.foundation:624707101 {source="MONDO:equivalentTo"} xref: NCIT:C128405 {source="MONDO:equivalentTo", source="UMLS:C0276139"} xref: SCTID:70189005 {source="MONDO:equivalentTo", source="UMLS:C0276139"} xref: UMLS:C0276139 {source="MONDO:equivalentTo"} @@ -458740,6 +462203,7 @@ synonym: "Kohler's second disease" RELATED [GARD:0002380, MESH:C535636] synonym: "Osteochondrosis of the metatarsal head, usually the second" RELATED [GARD:0002380] synonym: "second metatarsal osteochondrosis" RELATED [GARD:0002380, MESH:C535636] xref: GARD:2380 {source="Orphanet:564003"} +xref: icd11.foundation:74359553 {source="MONDO:equivalentTo"} xref: MESH:C535636 {source="MONDO:equivalentTo"} xref: Orphanet:564003 {source="MONDO:equivalentTo"} xref: SCTID:28466007 {source="MONDO:equivalentTo"} @@ -458996,6 +462460,7 @@ subset: rare synonym: "GCM" RELATED ABBREVIATION [GARD:0006502] synonym: "giant cell myocarditis" EXACT [NCIT:C97055] synonym: "idiopathic giant-cell myocarditis" RELATED [GARD:0006502] +xref: icd11.foundation:507103735 {source="MONDO:equivalentTo"} xref: NCIT:C97055 {source="MONDO:equivalentTo"} xref: NORD:1183 {source="MONDO:NORD"} xref: SCTID:60812006 {source="MONDO:equivalentTo"} @@ -459057,6 +462522,7 @@ synonym: "Linear Porokeratosis" RELATED [MESH:D017499] synonym: "Linear porokeratosis" RELATED [UMLS:C0302319] synonym: "Porokeratosis, Linear" RELATED [MESH:D017499] synonym: "Zosteriform porokeratosis" RELATED [UMLS:C0302319] +xref: icd11.foundation:1622319802 {source="MONDO:equivalentTo"} xref: MESH:D017499 {source="UMLS:C0302319"} xref: SCTID:238631008 {source="MONDO:equivalentTo", source="UMLS:C0302319"} xref: UMLS:C0302319 {source="GARD:0009515", source="MONDO:equivalentTo"} @@ -459171,6 +462637,7 @@ synonym: "Protuberan, Pigmented Dermatofibrosarcoma" RELATED [MESH:D018223] synonym: "Protuberans, Pigmented Dermatofibrosarcoma" RELATED [MESH:D018223] synonym: "Tumor, Bednar" RELATED [MESH:D018223] synonym: "Tumor, Bednar's" RELATED [MESH:D018223] +xref: icd11.foundation:785217354 {source="MONDO:equivalentTo"} xref: MESH:D018223 {source="UMLS:C0334464"} xref: NCIT:C9430 {source="UMLS:C0334464", source="MONDO:equivalentTo"} xref: SCTID:398670003 {source="UMLS:C0334464", source="MONDO:equivalentTo"} @@ -459211,6 +462678,7 @@ name: granulomatous hypophysitis def: "Granulomatous hypophysitis is rare pathology that mimics pituitary adenoma." [doi:10.1002/ccr3.1007] subset: rare synonym: "idiopathic granulomatous hypophysitis" RELATED [GARD:0006547] +xref: icd11.foundation:1410645474 {source="MONDO:equivalentTo"} is_a: MONDO:0021156 {source="doi:10.1002/ccr3.1007"} ! hypophysitis property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6547/granulomatous-hypophysitis" xsd:anyURI {source="GARD:0006547"} @@ -459291,6 +462759,7 @@ synonym: "guttate psoriasis" EXACT [] synonym: "psoriasis guttata" RELATED [] synonym: "psoriasis guttate" RELATED [GARD:0010569] xref: ICD10CM:L40.4 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1202062855 {source="MONDO:equivalentTo"} xref: ICD9:696.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:37042000 {source="MONDO:equivalentTo"} xref: UMLS:C0343052 {source="MONDO:equivalentTo", source="GARD:0010569"} @@ -459372,6 +462841,7 @@ def: "Pityriasis rotunda is a rare skindisease characterized by round, scaly, pi subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Pityriasis rotunda" RELATED [UMLS:C0343060] +xref: icd11.foundation:873448556 {source="MONDO:equivalentTo"} xref: SCTID:238639005 {source="MONDO:equivalentTo", source="UMLS:C0343060"} xref: UMLS:C0343060 {source="MONDO:equivalentTo"} is_a: MONDO:0005093 ! skin disorder @@ -459426,6 +462896,7 @@ def: "An infectious process affecting the skeletal muscles. It can be caused by subset: rare synonym: "infectious myositis" EXACT [NCIT:C26984] synonym: "infective myositis" EXACT [NCIT:C26984] +xref: icd11.foundation:82568660 {source="MONDO:equivalentTo"} xref: ICD9:728.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C26984 {source="MONDO:equivalentTo"} xref: SCTID:29689003 {source="MONDO:equivalentTo"} @@ -459598,6 +463069,7 @@ synonym: "PV - Vaginal infection" RELATED [UMLS:C0404521] synonym: "Vaginal Infection" RELATED [NCIT:C84353] synonym: "Vaginal infection" RELATED [UMLS:C0404521] synonym: "vaginal infection" EXACT [NCIT:C84353] +xref: icd11.foundation:1436361154 {source="MONDO:equivalentTo"} xref: NCIT:C84353 {source="UMLS:C0404521", source="MONDO:equivalentTo"} xref: SCTID:237091009 {source="UMLS:C0404521", source="MONDO:equivalentTo"} xref: UMLS:C0404521 {source="MONDO:equivalentTo"} @@ -459612,6 +463084,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "association of muscular pseudohypertrophy and hypothyroidism in children" RELATED [GARD:0008270] synonym: "Kocher debre Semelaigne disease" RELATED [GARD:0008270, MESH:C537211] +xref: icd11.foundation:109007822 {source="MONDO:equivalentTo"} xref: MESH:C537211 {source="MONDO:equivalentTo"} xref: UMLS:C0270958 {source="GARD:0008270", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002254 {source="MONDO:Redundant"} ! syndromic disease @@ -459759,6 +463232,7 @@ synonym: "dystrophy, Congenital Myotonic" RELATED [MESH:D009223] synonym: "Myotonic dystrophies, Congenital" RELATED [MESH:D009223] synonym: "MYOTONIC dystrophy CONGEN" RELATED [MESH:D009223] synonym: "Myotonic dystrophy, Congenital" RELATED [MESH:D009223] +xref: icd11.foundation:599230687 {source="MONDO:equivalentTo"} xref: MESH:D009223 {source="UMLS:C0410226"} xref: NCIT:C123308 {source="MONDO:equivalentTo", source="UMLS:C0410226"} xref: SCTID:240104008 {source="UMLS:C0410226"} @@ -459894,6 +463368,7 @@ synonym: "lentigo maligna melanoma" EXACT [NCIT:C9151] synonym: "LMM" RELATED ABBREVIATION [GARD:0009962] synonym: "malignant lentigo melanoma" EXACT [NCIT:C9151] synonym: "SKLMM" RELATED ABBREVIATION [ONCOTREE:SKLMM] +xref: icd11.foundation:2011782924 {source="MONDO:equivalentTo"} xref: ICD9:172.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8742/3 {source="NCIT:C9151"} xref: NCIT:C9151 {source="MONDO:equivalentTo"} @@ -459934,6 +463409,7 @@ subset: rare synonym: "Midbrain stroke syndromes" RELATED [GARD:0008676] synonym: "Weber Syndrome" RELATED [MESH:D020526, UMLS:C0455717] synonym: "Weber-Gubler syndrome" EXACT [UMLS:C0455717] +xref: icd11.foundation:1609214113 {source="MONDO:equivalentTo"} xref: ICD9:344.89 xref: MESH:D020526 {source="UMLS:C0455717"} xref: SCTID:24654003 {source="UMLS:C0455717", source="MONDO:equivalentTo"} @@ -459963,6 +463439,7 @@ subset: rare synonym: "acute lipodermatosclerosis" RELATED [GARD:0009671, MESH:C537026] synonym: "hypodermitis sclerodermaformis" RELATED [GARD:0009671] synonym: "sclerosing panniculitis" RELATED [GARD:0009671] +xref: icd11.foundation:473315619 {source="MONDO:equivalentTo"} xref: MESH:C537026 {source="MONDO:equivalentTo"} xref: SCTID:410016009 {source="MONDO:equivalentTo"} xref: UMLS:C0406500 {source="MONDO:equivalentTo", source="GARD:0009671"} @@ -460301,6 +463778,7 @@ name: multifocal choroiditis def: "Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment." [GARD:0009824] subset: nord_rare {source="MONDO:NORD"} subset: rare +xref: icd11.foundation:1197219411 {source="MONDO:equivalentTo"} xref: MESH:C537374 {source="MONDO:equivalentObsolete"} xref: MESH:D000080364 {source="MONDO:equivalentTo"} xref: SCTID:414783007 {source="MONDO:equivalentTo"} @@ -460344,6 +463822,7 @@ synonym: "Melanoma-Associated Retinopathy" RELATED [MESH:D059545] synonym: "Melanoma-associated retinopathy" RELATED [UMLS:C0730308] synonym: "Retinopathies, Melanoma-Associated" RELATED [MESH:D059545] synonym: "Retinopathy, Melanoma-Associated" RELATED [MESH:D059545] +xref: icd11.foundation:2011212045 {source="MONDO:equivalentTo"} xref: MESH:D059545 {source="UMLS:C0730308"} xref: SCTID:312941005 {source="MONDO:equivalentTo", source="UMLS:C0730308"} xref: UMLS:C0730308 {source="MONDO:equivalentTo"} @@ -460449,6 +463928,7 @@ subset: rare synonym: "endemic neuritis" RELATED [Wikipedia:Thiamine_deficiency] xref: DOID:0070318 {source="MONDO:equivalentTo"} xref: ICD10CM:E51.11 {source="DOID:0070318"} +xref: icd11.foundation:582233757 {source="MONDO:equivalentTo"} xref: SCTID:71021002 {source="DOID:0070318"} is_a: MONDO:0006676 {source="DOID:0070318"} ! beriberi intersection_of: MONDO:0006676 ! beriberi @@ -460461,6 +463941,7 @@ subset: inferred_rare subset: rare xref: DOID:0070317 {source="MONDO:equivalentTo"} xref: ICD10CM:E51.12 {source="DOID:0070317"} +xref: icd11.foundation:1753713002 {source="MONDO:equivalentTo"} xref: SCTID:67360000 {source="DOID:0070317"} is_a: MONDO:0006676 {source="DOID:0070317"} ! beriberi intersection_of: MONDO:0006676 ! beriberi @@ -460497,6 +463978,7 @@ id: MONDO:0024228 name: miliaria profunda def: "A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash." [DOID:0070320] xref: DOID:0070320 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1540615212 {source="MONDO:equivalentTo"} xref: SCTID:47317002 {source="MONDO:equivalentTo"} is_a: MONDO:0006580 {source="DOID:0070320"} ! miliaria @@ -460506,6 +463988,7 @@ name: miliaria crystallina def: "A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located in the stratum corneum." [DOID:0070321] xref: DOID:0070321 {source="MONDO:equivalentTo"} xref: ICD10CM:L74.1 {source="DOID:0070321"} +xref: icd11.foundation:796835029 {source="MONDO:equivalentTo"} xref: SCTID:44279002 {source="DOID:0070321"} xref: UMLS:C3241961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0006580 {source="DOID:0070321"} ! miliaria @@ -460658,6 +464141,7 @@ synonym: "eccrine syringofibroadenoma of skin" RELATED [] synonym: "eccrine syringofibroadenomatous hyperplasia" EXACT [HP:0031018] synonym: "syringofibroadenoma" EXACT [HP:0031018, NCIT:C43356] xref: HP:0031018 {source="MONDO:otherHierarchy"} +xref: icd11.foundation:1297149965 {source="MONDO:equivalentTo"} xref: ICDO:8392/0 {source="NCIT:C43356"} xref: NCIT:C43356 {source="MONDO:equivalentTo"} xref: SCTID:403936002 {source="MONDO:equivalentTo"} @@ -460720,6 +464204,7 @@ synonym: "Pityriasis Lichenoides chronica" RELATED [MESH:D017514] synonym: "Pityriasis Lichenoides et Varioliformis Acuta" RELATED [MESH:D017514] synonym: "Pityriasis Lichenoides, acute" RELATED [MESH:D017514] synonym: "Pityriasis Lichenoides, chronic" RELATED [MESH:D017514] +xref: icd11.foundation:266281219 {source="MONDO:equivalentTo"} xref: MESH:D017514 {source="MONDO:equivalentTo"} xref: NCIT:C85013 {source="MONDO:equivalentTo"} xref: SCTID:200983001 {source="MONDO:equivalentTo"} @@ -461060,6 +464545,7 @@ name: chronic endometritis def: "A non-granulomatous or granulomatous chronic inflammation of the endometrium. Causes include sexually transmitted pathogens and gynecological procedures. Patients may present with irregular bleeding." [NCIT:C102820] synonym: "chronic endometritis" EXACT [NCIT:C102820] synonym: "endometritis, chronic" EXACT [MONDO:patterns/chronic] +xref: icd11.foundation:440849195 {source="MONDO:equivalentTo"} xref: NCIT:C102820 {source="MONDO:equivalentTo"} xref: SCTID:63922003 {source="MONDO:equivalentTo"} xref: UMLS:C0238104 {source="MONDO:equivalentTo", source="NCIT:C102820"} @@ -461115,6 +464601,7 @@ def: "A demodicidosis that involves the hair follicle." [MONDO:patterns/location subset: inferred_rare subset: rare synonym: "hair follicle demodicidosis" EXACT [MONDO:patterns/location] +xref: icd11.foundation:1602267881 {source="MONDO:equivalentTo"} xref: ICD9:133.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:704.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:240894003 {source="MONDO:equivalentTo"} @@ -461194,6 +464681,7 @@ id: MONDO:0024290 name: enuresis def: "An elimination disorder characterized by urinary incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs at or beyond an age at which continence is expected (usually 5 years)." [NCIT:C34588] synonym: "enuresis" EXACT [NCIT:C34588] +xref: icd11.foundation:1157749237 {source="MONDO:equivalentTo"} xref: MESH:D004775 {source="MONDO:equivalentTo"} xref: NCIT:C34588 {source="MONDO:equivalentTo"} xref: UMLS:C0014394 {source="MONDO:equivalentTo", source="NCIT:C34588"} @@ -461386,6 +464874,7 @@ id: MONDO:0024302 name: internal hirudiniasis def: "A condition resulting from accidental ingestion of leeches in drinking water. They may attach themselves to the wall of the pharynx, nasal cavity, or larynx." [https://medical-dictionary.thefreedictionary.com/internal+hirudiniasis] xref: ICD10CM:B83.4 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1840948804 {source="MONDO:equivalentTo"} xref: SCTID:187227006 {source="MONDO:equivalentTo"} xref: UMLS:C0348999 {source="MONDO:equivalentTo"} intersection_of: MONDO:0001191 ! hirudiniasis @@ -461396,6 +464885,7 @@ id: MONDO:0024303 name: external hirudiniasis def: "The attachment of leeches to the skin. After the leeches drop off, bleeding may continue as a result of the action of hirudin. Bites may become infected or ulcerate." [https://medical-dictionary.thefreedictionary.com/external+hirudiniasis] xref: ICD10CM:B88.3 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1781413652 {source="MONDO:equivalentTo"} xref: SCTID:1086871000119109 {source="MONDO:equivalentTo"} xref: UMLS:C0392037 {source="MONDO:equivalentTo"} is_a: MONDO:0002875 ! parasitic ectoparasitic infectious disease @@ -461411,6 +464901,7 @@ subset: rare synonym: "common ichthyosis" RELATED [GARD:0006752] synonym: "fish scale disease" RELATED [GARD:0006752] synonym: "ichthyosis vulgaris" EXACT [NCIT:C84778] +xref: icd11.foundation:841161884 {source="MONDO:equivalentTo"} xref: MESH:D016112 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C84778 {source="MONDO:equivalentTo"} xref: UMLS:C0079584 {source="NCIT:C84778", source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MONDO:directSiblingOf"} @@ -461516,6 +465007,7 @@ def: "A angiodysplasia that involves the stomach." [MONDO:patterns/location] synonym: "gastric angiodysplasia" RELATED [] synonym: "gastric vascular dysplasia" RELATED [] synonym: "stomach angiodysplasia" EXACT [MONDO:patterns/location] +xref: icd11.foundation:977696596 {source="MONDO:equivalentTo"} xref: SCTID:424802006 {source="MONDO:equivalentTo"} xref: UMLS:C0744273 {source="MONDO:equivalentTo"} intersection_of: MONDO:0002322 ! angiodysplasia @@ -461580,6 +465072,7 @@ def: "Infection of the epicondyles by a parasite." [NCIT:C34587] subset: inferred_rare subset: rare synonym: "parasitic endophthalmitis" EXACT [NCIT:C34587] +xref: icd11.foundation:935014361 {source="MONDO:equivalentTo"} xref: ICD9:360.13 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: NCIT:C34587 {source="MONDO:equivalentTo"} xref: SCTID:57100005 {source="MONDO:equivalentTo"} @@ -461681,6 +465174,7 @@ subset: inferred_rare subset: rare synonym: "glomangiomyoma" EXACT [NCIT:C4223] xref: DOID:8020 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1985571102 {source="MONDO:equivalentTo"} xref: ICDO:8713/0 {source="NCIT:C4223"} xref: NCIT:C4223 {source="MONDO:equivalentTo", source="DOID:8020"} xref: SCTID:189745002 {source="DOID:8020"} @@ -461801,6 +465295,7 @@ def: "Allergic rhinitis caused by indoor allergens and lasting year round." [NCI synonym: "non-seasonal allergic rhinitis" EXACT [NCIT:C92189] synonym: "nonseasonal allergic rhinitis" EXACT [NCIT:C92189-variant] synonym: "perennial allergic rhinitis" EXACT [NCIT:C92189] +xref: icd11.foundation:1273917262 {source="MONDO:equivalentTo"} xref: MESH:D012221 {source="MONDO:equivalentTo"} xref: NCIT:C92189 {source="MONDO:equivalentTo"} xref: SCTID:446096008 {source="MONDO:equivalentTo"} @@ -461820,6 +465315,7 @@ synonym: "neuralgias, sciatic" RELATED [MESH:D012585] synonym: "sciatic neuralgia" RELATED [MESH:D012585] synonym: "sciatic Neuralgias" RELATED [MESH:D012585] synonym: "sciatica, bilateral" RELATED [MESH:D012585] +xref: icd11.foundation:2056651014 {source="MONDO:equivalentTo"} xref: ICD9:724.3 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MESH:D012585 {source="MONDO:equivalentTo"} xref: SCTID:23056005 {source="MONDO:equivalentTo"} @@ -461838,6 +465334,7 @@ id: MONDO:0024335 name: retrobulbar neuritis subset: inferred_rare subset: rare +xref: icd11.foundation:63567539 {source="MONDO:equivalentTo"} xref: SCTID:230507009 {source="MONDO:equivalentTo"} is_a: MONDO:0005885 ! optic neuritis @@ -461985,6 +465482,7 @@ id: MONDO:0024346 name: pityriasis amiantacea synonym: "pityriasis amiantacea" EXACT [] synonym: "tinea amiantacea" RELATED [] +xref: icd11.foundation:210953452 {source="MONDO:equivalentTo"} xref: ICD9:696.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:238924007 {source="MONDO:equivalentTo"} xref: UMLS:C0343100 {source="MONDO:equivalentTo"} @@ -462004,6 +465502,7 @@ is_obsolete: true id: MONDO:0024349 name: pityriasis alba def: "A prevalent and benign dermatological condition that predominantly affects children and adolescents. The name \"pityriasis alba\" derives from its appearance, where \"pityriasis\" denotes the fine scales and \"alba\" signifies the pale color (hypopigmentation)." [PMID:28613715] +xref: icd11.foundation:1386947078 {source="MONDO:equivalentTo"} xref: ICD9:696.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:402296004 {source="MONDO:equivalentTo"} is_a: MONDO:0006547 {source="https://orcid.org/0000-0002-6601-2165"} ! exanthem @@ -463058,6 +466557,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0024478 name: mesenchymal hamartoma synonym: "mesenchymal hamartoma" EXACT [NCIT:C40427] +xref: icd11.foundation:721606155 {source="MONDO:equivalentTo"} xref: NCIT:C40427 {source="MONDO:equivalentTo"} xref: UMLS:C0334090 {source="NCIT:C40427", source="MONDO:equivalentTo"} is_a: MONDO:0006499 {source="NCIT:C40427"} ! hamartoma @@ -463589,6 +467089,7 @@ def: "A thrombocytosis caused by an underlying condition, such as an infection." subset: inferred_rare subset: rare synonym: "secondary thrombocytosis" EXACT [https://www.mayoclinic.org/diseases-conditions/thrombocytosis/symptoms-causes/syc-20378315] +xref: icd11.foundation:1096559251 {source="MONDO:equivalentTo"} xref: ICD9:286.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:234500001 {source="MONDO:equivalentTo"} xref: UMLS:C0457506 {source="MONDO:equivalentTo"} @@ -465146,6 +468647,7 @@ def: "An inflammatory disease involving a pathogenic inflammatory response in th synonym: "inflammation of tympanic membrane" EXACT [] synonym: "myringitis" EXACT [] synonym: "tympanic membrane inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] +xref: icd11.foundation:225078522 {source="MONDO:equivalentTo"} xref: SCTID:14852000 {source="MONDO:equivalentTo"} xref: UMLS:C0027134 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000001 ! disease @@ -465570,6 +469072,7 @@ synonym: "urolithiasis" EXACT [] xref: DOID:0080653 {source="MONDO:equivalentTo"} xref: ICD10CM:N20-N23 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:N21 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1746821938 {source="MONDO:equivalentTo"} xref: MESH:D052878 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C114688 {source="MONDO:equivalentTo"} xref: SCTID:95566004 {source="MONDO:equivalentTo"} @@ -465618,6 +469121,7 @@ name: drug-induced osteoporosis subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "drug-induced osteoporosis" EXACT [] +xref: icd11.foundation:691296096 {source="MONDO:equivalentTo"} xref: ICD9:733.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: SCTID:14651005 {source="MONDO:equivalentTo"} is_a: MONDO:0005298 {source="MONDO:Redundant"} ! osteoporosis @@ -465644,6 +469148,7 @@ name: embryonic cyst of fallopian tube synonym: "cyst of mesenteric remnant" RELATED [] synonym: "embryonic cyst of fallopian tube" EXACT [] xref: ICD10CM:Q50.4 {source="MONDO:equivalentTo"} +xref: icd11.foundation:440178290 {source="MONDO:equivalentTo"} xref: SCTID:302954008 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 ! disease relationship: disease_has_location UBERON:0003889 ! fallopian tube @@ -466325,6 +469830,7 @@ name: mixed teratoma and seminoma subset: inferred_rare subset: rare synonym: "mixed teratoma and seminoma" EXACT [NCIT:C9010] +xref: icd11.foundation:1449575722 {source="MONDO:equivalentTo"} xref: NCIT:C9010 {source="MONDO:equivalentTo"} is_a: MONDO:0015864 {source="NCIT:C9010"} ! mixed germ cell tumor @@ -467450,6 +470956,7 @@ synonym: "OPDM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:164310, Orphanet:98897] xref: DOID:0081296 {source="MONDO:equivalentTo"} xref: GARD:12592 {source="Orphanet:98897"} xref: ICD10CM:G71.0 {source="Orphanet:98897", source="Orphanet:98897/attributed", source="Orphanet:98897/ntbt"} +xref: icd11.foundation:1493269618 {source="MONDO:equivalentTo"} xref: MESH:C563508 {source="MONDO:equivalentTo"} xref: OMIMPS:164310 {source="MONDO:equivalentTo"} xref: Orphanet:98897 {source="MONDO:equivalentTo", source="OMIM:164310"} @@ -467872,6 +471379,7 @@ synonym: "boils" RELATED [MESH:D005667] synonym: "furuncle" RELATED [MESH:D005667] synonym: "Furuncles" RELATED [MESH:D005667] synonym: "Furunculoses" RELATED [MESH:D005667] +xref: icd11.foundation:1194531705 {source="MONDO:equivalentTo"} xref: MESH:D005667 {source="MONDO:equivalentTo"} xref: NCIT:C34629 {source="MONDO:equivalentTo"} is_a: MONDO:0024934 {source="MESH:D005667"} ! fish disease @@ -468374,6 +471882,7 @@ synonym: "white atrophy" RELATED [] xref: DOID:0040099 {source="MONDO:equivalentTo"} xref: GARD:12784 {source="Orphanet:542643"} xref: ICD10CM:L95.0 {source="MONDO:equivalentTo", source="DOID:0040099"} +xref: icd11.foundation:1237292304 {source="MONDO:equivalentTo"} xref: icd11.foundation:1237292304 {source="Orphanet:542643", source="MONDO:equivalentTo"} xref: ICD9:709.1 {source="GARD:0012784"} xref: ICD9CM:709.1 {source="DOID:0040099"} @@ -468543,6 +472052,7 @@ id: MONDO:0025956 name: ovarian remnant syndrome def: "Ovarian remnant syndrome (ORS) is characterized by the presence of residual ovarian tissue after a woman has had surgery to remove one ovary or both ovaries (oophorectomy). Signs and symptoms may include pelvic pain, a pelvic mass, or the absence of menopause after oophorectomy. The condition may be caused by surgical factors leading to incomplete removal of ovarian tissue, including factors that limit surgical exposure of the ovary or compromise surgical technique. Factors may include pelvic adhesions (limiting ability to see the ovary or causing it to adhere to other tissues); anatomic variations; bleeding during surgery; or poor surgical technique. Treatment is indicated for people with symptoms and typically involves surgery to remove the residual tissue. Therapy for those who refuse surgery, cannot have surgery, or do not have a pelvic mass may include hormonal therapy to suppress ovarian function." [GARD:0007297] subset: rare +xref: icd11.foundation:584962583 {source="MONDO:equivalentTo"} xref: UMLS:C0271614 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0007297"} is_a: MONDO:0005558 ! ovarian disorder @@ -470502,6 +474012,7 @@ subset: rare synonym: "HARDEROPORPHYRIA" EXACT ABBREVIATION [OMIM:618892] synonym: "harderoporphyria" EXACT [OMIM:618892] synonym: "HARPO" EXACT ABBREVIATION [OMIM:618892] +xref: icd11.foundation:1664486132 {source="MONDO:equivalentTo"} xref: MESH:C562816 {source="MONDO:equivalentTo"} xref: OMIM:618892 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {comment="OMIM:618892"} ! hereditary disease @@ -472211,6 +475722,7 @@ synonym: "cystic partially differentiated nephroblastoma" EXACT [NCIT:C6897] synonym: "malignant cystic nephroma" EXACT [NCIT:C6897] synonym: "malignant multilocular cystic nephroma" EXACT [NCIT:C6897] xref: DOID:7571 {source="MONDO:equivalentTo"} +xref: icd11.foundation:787947394 {source="MONDO:equivalentTo"} xref: ICDO:8959/1 {source="NCIT:C6897"} xref: ICDO:8959/3 {source="NCIT:C6897"} xref: NCIT:C6897 {source="MONDO:equivalentTo"} @@ -472643,6 +476155,7 @@ synonym: "trichomonal leukorrhea" RELATED [] synonym: "trichomonal vulvovaginitis" EXACT [] synonym: "Trichomonas vaginalis caused vulvovaginitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Trichomonas vaginalis vulvovaginitis" EXACT [] +xref: icd11.foundation:517019329 {source="MONDO:equivalentTo"} xref: ICD9:131.01 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: SCTID:81598001 {source="MONDO:equivalentTo"} xref: UMLS:C2945558 {source="MONDO:equivalentTo"} @@ -474747,6 +478260,7 @@ name: autoimmune gastritis def: "Inflammation of the body fundic mucosa of the stomach. It results from the development of autoantibodies against the parietal and chief cells. It is associated with the presence of intestinal metaplasia and an increased risk of developing gastric carcinoma." [NCIT:C95752] synonym: "autoimmune gastritis (disease)" EXACT [] xref: DOID:0040090 {source="MONDO:equivalentTo"} +xref: icd11.foundation:248006617 {source="MONDO:equivalentTo"} xref: NCIT:C95752 {source="MONDO:equivalentTo"} is_a: MONDO:0000588 {source="DOID:0040090", source="MONDO:Redundant"} ! autoimmune disorder of gastrointestinal tract is_a: MONDO:0004298 {source="DOID:0040090", source="NCIT:C95752/inferred"} ! stomach disorder @@ -475274,6 +478788,7 @@ subset: gard_rare {source="GARD:3889"} subset: orphanet_rare {source="Orphanet:1358"} subset: rare xref: GARD:3889 {source="Orphanet:1358"} +xref: icd11.foundation:1784462638 {source="MONDO:equivalentTo"} xref: OMIMPS:254940 {source="MONDO:equivalentTo"} xref: Orphanet:1358 {source="MONDO:equivalentTo"} xref: UMLS:C1850746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -479012,6 +482527,7 @@ subset: rare synonym: "SEDN" RELATED ABBREVIATION [OMIM:618618] synonym: "SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE" RELATED [OMIM:618618] xref: DOID:0112288 {source="MONDO:equivalentTo"} +xref: icd11.foundation:523290419 {source="MONDO:equivalentTo"} xref: OMIM:618618 {source="MONDO:equivalentTo"} xref: Orphanet:163649 {source="OMIM:618618"} is_a: MONDO:0003847 {source="OMIM:618618"} ! hereditary disease @@ -482573,6 +486089,7 @@ subset: ordo_disease subset: orphanet_rare {source="Orphanet:519930"} subset: rare xref: GARD:22134 {source="Orphanet:519930"} +xref: icd11.foundation:712798367 {source="MONDO:equivalentTo"} xref: NCIT:C128370 {source="MONDO:equivalentTo"} xref: Orphanet:519930 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 {source="Orphanet:519930"} ! disease @@ -482603,6 +486120,7 @@ subset: ordo_disease subset: orphanet_rare {source="Orphanet:521127"} subset: rare xref: GARD:22138 {source="Orphanet:521127"} +xref: icd11.foundation:677862301 {source="MONDO:equivalentTo"} xref: Orphanet:521127 {source="MONDO:equivalentTo"} is_a: MONDO:0005380 {source="Orphanet:521127"} ! osteonecrosis is_a: MONDO:0043735 {source="Orphanet:521127"} ! osteoradionecrosis @@ -483374,6 +486892,7 @@ subset: ordo_disorder subset: orphanet_rare {source="Orphanet:493348"} subset: rare xref: GARD:17901 {source="Orphanet:493348"} +xref: icd11.foundation:1471948086 {source="MONDO:equivalentTo"} xref: Orphanet:493348 {source="MONDO:equivalentTo"} xref: UMLS:C0473546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019624 {source="https://orcid.org/0000-0001-5208-3432"} ! acquired angioedema @@ -484028,6 +487547,7 @@ synonym: "AML with BCR-ABL1" EXACT [Orphanet:585867] synonym: "AML with t(9;22)(q34.1;q11.2)" EXACT [Orphanet:585867] xref: DOID:0080976 {source="MONDO:equivalentTo"} xref: GARD:22340 {source="Orphanet:585867"} +xref: icd11.foundation:1533971197 {source="MONDO:equivalentTo"} xref: NCIT:C129785 {source="MONDO:equivalentTo"} xref: Orphanet:585867 {source="MONDO:equivalentTo"} is_a: MONDO:0018874 {source="NCIT:C129785", source="Orphanet:585867"} ! acute myeloid leukemia @@ -484135,6 +487655,7 @@ subset: rare synonym: "Secondary erythermalgia" EXACT [Orphanet:529864] xref: GARD:22201 {source="Orphanet:529864"} xref: ICD10CM:I73.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:529864"} +xref: icd11.foundation:1009405597 {source="MONDO:equivalentTo"} xref: Orphanet:529864 {source="MONDO:equivalentTo"} is_a: MONDO:0016028 {source="https://orcid.org/0000-0001-5208-3432"} ! erythromelalgia @@ -485051,6 +488572,7 @@ subset: ordo_subtype_of_a_disorder subset: orphanet_rare {source="Orphanet:566857"} subset: rare xref: GARD:22281 {source="Orphanet:566857"} +xref: icd11.foundation:1740361952 {source="MONDO:equivalentTo"} xref: NCIT:C98824 {source="MONDO:equivalentTo"} xref: Orphanet:566857 {source="MONDO:equivalentTo"} is_a: MONDO:0005560 {source="https://orcid.org/0000-0002-4142-7153"} ! brain disorder @@ -485524,6 +489046,7 @@ subset: orphanet_rare {source="Orphanet:580951"} subset: rare xref: GARD:7503 {source="Orphanet:580951"} xref: ICD10CM:H31.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:580951"} +xref: icd11.foundation:1322994548 {source="MONDO:equivalentTo"} xref: Orphanet:580951 {source="MONDO:equivalentTo"} is_a: MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! eye disorder @@ -485553,6 +489076,7 @@ synonym: "facial infused lipomatosis" EXACT [Orphanet:583097] synonym: "fibroadipose infiltrating lipomatosis" EXACT [Orphanet:583097] xref: GARD:22333 {source="Orphanet:583097"} xref: ICD10CM:Q87.3 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:583097"} +xref: icd11.foundation:1669603167 {source="MONDO:equivalentTo"} xref: Orphanet:583097 {source="MONDO:equivalentTo"} is_a: MONDO:0006574 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! lipomatosis @@ -486102,6 +489626,7 @@ subset: ordo_disorder subset: orphanet_rare {source="Orphanet:599490"} subset: rare xref: GARD:22408 {source="Orphanet:599490"} +xref: icd11.foundation:99894028 {source="MONDO:equivalentTo"} xref: NCIT:C131624 {source="MONDO:equivalentTo"} xref: Orphanet:599490 {source="MONDO:equivalentTo"} is_a: MONDO:0020586 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! factor V deficiency @@ -486547,6 +490072,7 @@ synonym: "Facial granuloma of Lever" EXACT [Orphanet:615943] synonym: "Granuloma of Lever" EXACT [Orphanet:615943] xref: GARD:22442 {source="Orphanet:615943"} xref: ICD10CM:L92.2 {source="Orphanet:615943", source="MONDO:equivalentTo"} +xref: icd11.foundation:1663072571 {source="MONDO:equivalentTo"} xref: icd11.foundation:1663072571 {source="Orphanet:615943", source="MONDO:equivalentTo"} xref: Orphanet:615943 {source="MONDO:equivalentTo"} is_a: MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! skin disorder @@ -486947,6 +490473,7 @@ def: "A benign mesenchymal tumor arising from skeletal or cardiac muscle." [NCIT synonym: "rhabdomyoma" EXACT [NCIT:C3358] synonym: "rhabdomyoma, benign" EXACT [NCIT:C3358] synonym: "Rhabdomyomatous neoplasm" EXACT [NCIT:C3358] +xref: icd11.foundation:1253205675 {source="MONDO:equivalentTo"} xref: ICDO:8900/0 {source="NCIT:C3358"} xref: MESH:D012207 {source="MONDO:equivalentTo"} xref: NCIT:C3358 {source="MONDO:equivalentTo"} @@ -487384,6 +490911,7 @@ id: MONDO:0037739 name: benign neoplasm of cauda equina def: "A benign neoplasm that involves the cauda equina." [MONDO:patterns/location] synonym: "benign neoplasm of cauda equina" EXACT [] +xref: icd11.foundation:214796583 {source="MONDO:equivalentTo"} xref: SCTID:92047003 {source="MONDO:equivalentTo"} xref: UMLS:C0686404 {source="MONDO:equivalentTo"} is_a: MONDO:0003164 {source="MONDO:Redundant"} ! cauda equina neoplasm @@ -487911,6 +491439,7 @@ id: MONDO:0040675 name: myofibroblastoma def: "A benign, well circumscribed soft tissue neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma." [NCIT:C49012] synonym: "myofibroblastoma" EXACT [NCIT:C49012] +xref: icd11.foundation:456084400 {source="MONDO:equivalentTo"} xref: ICDO:8825/0 {source="NCIT:C49012"} xref: NCIT:C49012 {source="MONDO:equivalentTo"} xref: UMLS:C0242404 {source="NCIT:C49012", source="MONDO:notFoundInDiseaseSubset"} @@ -488093,6 +491622,7 @@ is_a: MONDO:0040870 ! primary polydipsia id: MONDO:0040922 name: latent early syphilis synonym: "latent early syphilis" EXACT [] +xref: icd11.foundation:1768103550 {source="MONDO:equivalentTo"} xref: SCTID:186867005 {source="MONDO:equivalentTo"} xref: UMLS:C0275842 {source="MONDO:equivalentTo"} is_a: MONDO:0005822 ! latent syphilis @@ -488114,6 +491644,7 @@ name: latent yaws subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "latent yaws" EXACT [] +xref: icd11.foundation:247169608 {source="MONDO:equivalentTo"} xref: SCTID:186973005 {source="MONDO:equivalentTo"} xref: UMLS:C0153240 {source="MONDO:equivalentTo"} is_a: MONDO:0006019 {source="https://orcid.org/0000-0001-5208-3432"} ! yaws @@ -488156,6 +491687,7 @@ subset: rare synonym: "PHN - post-herpetic neuralgia" RELATED [] synonym: "post-zoster neuralgia" RELATED [] synonym: "postherpetic neuralgia" EXACT [] +xref: icd11.foundation:1797210650 {source="MONDO:equivalentTo"} xref: Orphanet:466673 {source="MONDO:equivalentObsolete"} xref: SCTID:2177002 {source="MONDO:equivalentTo"} xref: UMLS:C0032768 {source="MONDO:equivalentTo"} @@ -488256,6 +491788,7 @@ subset: rare synonym: "polymorphic light eruption" EXACT [] synonym: "polymorphic photodermatitis" RELATED [] synonym: "polymorphous light eruption" EXACT [] +xref: icd11.foundation:1883086071 {source="MONDO:equivalentTo"} xref: SCTID:238525001 {source="MONDO:equivalentTo"} xref: UMLS:C0031736 {source="MONDO:equivalentTo"} is_a: MONDO:0006597 ! photosensitivity disease @@ -488283,6 +491816,7 @@ subset: rare synonym: "Corynebacterium diphtheriae caused myocarditis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Corynebacterium diphtheriae myocarditis" EXACT [] synonym: "diphtheritic myocarditis" EXACT [] +xref: icd11.foundation:1165221541 {source="MONDO:equivalentTo"} xref: SCTID:26117009 {source="MONDO:equivalentTo"} xref: UMLS:C0152952 {source="MONDO:equivalentTo"} is_a: MONDO:0001114 ! bacterial myocarditis @@ -488338,6 +491872,7 @@ def: "Acute form of epiglottitis." [MONDO:patterns/acute] synonym: "acute epiglottitis" EXACT [] synonym: "acute epiglottitis and supraglottitis" RELATED [] synonym: "epiglottitis, acute" EXACT [MONDO:design_pattern, MONDO:patterns/acute] +xref: icd11.foundation:1070805666 {source="MONDO:equivalentTo"} xref: SCTID:29608009 {source="MONDO:equivalentTo"} is_a: MONDO:0004777 ! acute laryngitis is_a: MONDO:0005753 {source="MONDO:Redundant"} ! epiglottitis @@ -488453,6 +491988,7 @@ subset: inferred_rare subset: rare synonym: "lepromatous leprosy" RELATED [https://orcid.org/0000-0002-6601-2165, PMID:27219008] synonym: "multibacillary leprosy" EXACT [] +xref: icd11.foundation:1123804548 {source="MONDO:equivalentTo"} xref: MESH:D056006 {source="MONDO:equivalentTo"} xref: SCTID:416257001 {source="MONDO:equivalentTo"} is_a: MONDO:0005124 {source="https://orcid.org/0000-0001-5208-3432"} ! leprosy @@ -488466,6 +492002,7 @@ subset: inferred_rare subset: rare synonym: "paucibacillary leprosy" EXACT [] synonym: "tuberculoid leprosy" RELATED [https://orcid.org/0000-0002-6601-2165, PMID:27219008] +xref: icd11.foundation:1800264981 {source="MONDO:equivalentTo"} xref: MESH:D056005 {source="MONDO:equivalentTo"} xref: SCTID:416483009 {source="MONDO:equivalentTo"} is_a: MONDO:0005124 {source="https://orcid.org/0000-0001-5208-3432"} ! leprosy @@ -488555,6 +492092,7 @@ synonym: "gonococcal arthritis" RELATED [] synonym: "gonococcal infection of joint" EXACT [] synonym: "gonococcal joint infection" RELATED [] synonym: "gonococcal rheumatism" RELATED [] +xref: icd11.foundation:1787713905 {source="MONDO:equivalentTo"} xref: SCTID:44743006 {source="MONDO:equivalentTo"} xref: UMLS:C0153216 {source="MONDO:equivalentTo"} is_a: MONDO:0004277 {source="MONDO:Redundant"} ! gonorrhea @@ -488633,6 +492171,7 @@ id: MONDO:0042451 name: endomyometritis def: "An inflammation of the endometrium and the myometrium." [ISBN-13:978-0-7817-5532-0, Wikipedia:Endometritis#cite_note-isbn0-7817-5532-8-2] synonym: "endomyometritis" EXACT [] +xref: icd11.foundation:229826357 {source="MONDO:equivalentTo"} xref: SCTID:88027004 {source="MONDO:equivalentTo"} is_a: MONDO:0000918 {source="MONDO:Redundant"} ! endometritis intersection_of: MONDO:0000001 ! disease @@ -488677,6 +492216,7 @@ name: disseminated sporotrichosis subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "disseminated sporotrichosis" EXACT [] +xref: icd11.foundation:984175752 {source="MONDO:equivalentTo"} xref: SCTID:91051003 {source="MONDO:equivalentTo"} xref: UMLS:C0276725 {source="MONDO:equivalentTo"} is_a: MONDO:0005968 {source="MONDO:Redundant"} ! sporotrichosis @@ -488991,6 +492531,7 @@ synonym: "St Anthony's fire" RELATED [GARD:0000196] synonym: "St. Anthony fire" RELATED [MESH:D004881] synonym: "St. Anthony's fire" RELATED [MESH:D004881] synonym: "St. Anthonys fire" RELATED [MESH:D004881] +xref: icd11.foundation:1013848192 {source="MONDO:equivalentTo"} xref: ICD9:988.2 xref: MESH:D004881 {source="MONDO:equivalentTo"} xref: SCTID:51510002 {source="MONDO:equivalentTo"} @@ -489557,6 +493098,7 @@ xref: EFO:0000266 {source="MONDO:equivalentTo"} xref: HP:0001650 {source="MONDO:otherHierarchy"} xref: ICD10CM:I06.0 {source="DOID:1712", source="MONDO:mondoIsBroaderThanSource"} xref: ICD10CM:Q23.0 {source="DOID:1712"} +xref: icd11.foundation:956813047 {source="MONDO:equivalentTo"} xref: ICD9:395.0 {source="DOID:1712"} xref: ICD9:746.3 {source="MONDO:relatedTo", source="DOID:1712"} xref: MESH:D001024 {source="https://orcid.org/0000-0003-1967-3726", source="EFO:0000266", source="MONDO:equivalentTo", source="DOID:1712"} @@ -489852,6 +493394,7 @@ synonym: "Epitheliopathy, Acute Posterior Multifocal Placoid Pigment" EXACT [NOR synonym: "epitheliopathy, acute posterior multifocal placoid pigment" RELATED [GARD:0002183] synonym: "multifocal placoid pigment epitheliopathy" RELATED [GARD:0002183] synonym: "pigment epitheliopathy, disseminated retinitis and retinochoroiditis" RELATED [] +xref: icd11.foundation:2036282532 {source="MONDO:equivalentTo"} xref: NORD:1101 {source="MONDO:NORD"} xref: SCTID:89188001 {source="MONDO:equivalentTo"} xref: UMLS:C0154884 {source="MONDO:equivalentTo", source="GARD:0002183"} @@ -490360,6 +493903,7 @@ name: trichostasis spinulosa def: "Trichostasis spinulosa (TS) is a condition where instead of one hair protruding from a hair follicle, a bundle or bush of hair come out of a single follicle. This results in elevated, dark spiny papules on the head, face (usually the nose), and trunk. In this condition, there are numerous tiny open pores filled with multiple tiny short hairs, usually only visible with a magnifying glass. TS usually does not cause problems andmay only be noticed as an incidental finding. The exact cause is unknown." [GARD:0005269] synonym: "elevated dark spiny papules on the face or trunk" RELATED [GARD:0005269] synonym: "trichostasis spinulosa" EXACT [] +xref: icd11.foundation:509265047 {source="MONDO:equivalentTo"} xref: MESH:C536558 {source="MONDO:equivalentTo"} xref: Orphanet:866 {source="GARD:0005269"} xref: SCTID:21049007 {source="MONDO:equivalentTo"} @@ -490427,6 +493971,7 @@ synonym: "bickerstaff's migraine" RELATED [] synonym: "brainstem migraine" RELATED [GARD:0005896] synonym: "MBA" RELATED ABBREVIATION [GARD:0005896] synonym: "vertebrobasilar migraine" RELATED [GARD:0005896] +xref: icd11.foundation:2022157084 {source="MONDO:equivalentTo"} xref: NCIT:C117013 {source="MONDO:equivalentTo"} xref: SCTID:83351003 {source="MONDO:equivalentTo"} xref: UMLS:C0270860 {source="GARD:0005896", source="NCIT:C117013", source="MONDO:notFoundInDiseaseSubset"} @@ -490459,6 +494004,7 @@ synonym: "multi-infarct, dementia" RELATED [MESH:D015161] synonym: "multi-infarcts, dementia" RELATED [MESH:D015161] synonym: "Multiinfarct dementia" RELATED [MESH:D015161] synonym: "Multiinfarct Dementias" RELATED [MESH:D015161] +xref: icd11.foundation:645643099 {source="MONDO:equivalentTo"} xref: MESH:D015161 {source="MONDO:equivalentTo"} xref: NCIT:C34522 {source="MONDO:equivalentTo"} xref: SCTID:56267009 {source="MONDO:equivalentTo"} @@ -490540,6 +494086,7 @@ synonym: "Glossopyroses" RELATED [MESH:D005926] synonym: "glossopyrosis" RELATED [MESH:D005926] synonym: "painful tongue" RELATED [] synonym: "soreness of tongue" RELATED [] +xref: icd11.foundation:1755751917 {source="MONDO:equivalentTo"} xref: MESH:D005926 {source="MONDO:equivalentTo"} xref: SCTID:30731004 {source="MONDO:equivalentTo"} xref: UMLS:C0017672 {source="GARD:0006518", source="MONDO:notFoundInDiseaseSubset"} @@ -490574,6 +494121,7 @@ synonym: "leukoplakia" EXACT [NCIT:C3186] synonym: "leukoplakias" RELATED [MESH:D007971] synonym: "leukoplakic lesion" RELATED [MESH:D007971] synonym: "leukoplakic lesions" RELATED [MESH:D007971] +xref: icd11.foundation:417308277 {source="MONDO:equivalentTo"} xref: MESH:D007971 {source="MONDO:equivalentTo"} xref: NCIT:C3186 {source="MONDO:equivalentTo"} xref: SCTID:274134003 {source="MONDO:equivalentTo"} @@ -490659,6 +494207,7 @@ synonym: "papular urticaria" EXACT [] synonym: "prurigo simplex" EXACT [] synonym: "strophulus" RELATED [] synonym: "urticaria papulosa of hebra" RELATED [] +xref: icd11.foundation:1014677494 {source="MONDO:equivalentTo"} xref: MESH:C537169 {source="MONDO:equivalentTo"} xref: SCTID:55608001 {source="MONDO:equivalentTo"} xref: UMLS:C0263352 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0007322"} @@ -490744,6 +494293,7 @@ synonym: "rheumatoid Vasculitides" RELATED [MESH:D056653] synonym: "rheumatoid vasculitis" EXACT [] synonym: "Vasculitides, rheumatoid" RELATED [MESH:D056653] synonym: "vasculitis, rheumatoid" RELATED [MESH:D056653] +xref: icd11.foundation:1398254566 {source="MONDO:equivalentTo"} xref: MESH:D056653 {source="MONDO:equivalentTo"} xref: SCTID:400054000 {source="MONDO:equivalentTo"} xref: UMLS:C0240903 {source="MONDO:equivalentTo", source="GARD:0007577"} @@ -490813,6 +494363,7 @@ synonym: "iron miners lung" RELATED [GARD:0008372, MESH:C537337] synonym: "siderosilicosis" EXACT [] synonym: "silicosiderosis" EXACT [] xref: EFO:1001855 {source="MONDO:equivalentTo"} +xref: icd11.foundation:273225437 {source="MONDO:equivalentTo"} xref: MESH:C537337 {source="MONDO:equivalentTo"} xref: SCTID:34004002 {source="MONDO:equivalentTo"} xref: UMLS:C0018929 {source="GARD:0008372", source="MONDO:equivalentTo"} @@ -490891,6 +494442,7 @@ name: actinic cheilitis synonym: "actinic cheilitis" EXACT [] synonym: "actinic cheilosis" RELATED [GARD:0009619, MESH:C535669] synonym: "solar keratosis of lip" RELATED [] +xref: icd11.foundation:436658980 {source="MONDO:equivalentTo"} xref: MESH:C535669 {source="MONDO:equivalentTo"} xref: NCIT:C183562 {source="MONDO:equivalentTo"} xref: SCTID:46795000 {source="MONDO:equivalentTo"} @@ -490923,6 +494475,7 @@ synonym: "phonophobia" RELATED [MESH:D012001] synonym: "Phonophobias" RELATED [MESH:D012001] synonym: "recruitment, loudness" RELATED [MESH:D012001] synonym: "sounds seem unnaturally loud" RELATED [] +xref: icd11.foundation:652034206 {source="MONDO:equivalentTo"} xref: MESH:D012001 {source="MONDO:equivalentTo"} xref: NCIT:C116366 {source="MONDO:equivalentTo"} xref: SCTID:25289003 {source="MONDO:equivalentTo"} @@ -490943,6 +494496,7 @@ synonym: "blindness, transient monocular" RELATED [MESH:D020757] synonym: "momentary blindness" RELATED [] synonym: "monocular blindness, transient" RELATED [MESH:D020757] synonym: "transient monocular blindness" RELATED [GARD:0009660, MESH:D020757] +xref: icd11.foundation:691084626 {source="MONDO:equivalentTo"} xref: MESH:D020757 {source="MONDO:equivalentTo"} xref: NCIT:C84550 {source="MONDO:equivalentTo"} xref: SCTID:88032003 {source="MONDO:equivalentTo"} @@ -490978,6 +494532,7 @@ subset: rare synonym: "ADM" RELATED ABBREVIATION [GARD:0009907] synonym: "amyopathic dermatomyositis" EXACT [Orphanet:645617] synonym: "dermatomyositis sine myositis" EXACT [GARD:0009907] +xref: icd11.foundation:727262285 {source="MONDO:equivalentTo"} xref: MESH:C538250 {source="MONDO:equivalentTo"} xref: Orphanet:221 {source="GARD:0009907"} xref: Orphanet:645617 {source="MONDO:equivalentTo"} @@ -491086,6 +494641,7 @@ synonym: "syndrome, Mirizzi" RELATED [MESH:D057792] synonym: "syndrome, Mirizzi's" RELATED [MESH:D057792] xref: EFO:1001860 {source="MONDO:equivalentTo"} xref: GARD:10177 {source="Orphanet:521219"} +xref: icd11.foundation:381742412 {source="MONDO:equivalentTo"} xref: MESH:D057792 {source="MONDO:equivalentTo"} xref: Orphanet:521219 {source="MONDO:equivalentTo"} xref: SCTID:4283007 {source="MONDO:equivalentTo"} @@ -491161,6 +494717,7 @@ synonym: "Masson's tumour" RELATED OMO:0003005 [] synonym: "Masson's vegetant hemangioma" EXACT [NCIT:C4391] synonym: "Masson's vegetant intravascular hemangio-endothelioma" RELATED [GARD:0010733] synonym: "papillary endothelial hyperplasia" EXACT [NCIT:C4391] +xref: icd11.foundation:1397961760 {source="MONDO:equivalentTo"} xref: NCIT:C4391 {source="MONDO:equivalentTo"} xref: SCTID:238770007 {source="MONDO:equivalentTo"} xref: UMLS:C0343083 {source="MONDO:equivalentTo", source="NCIT:C4391"} @@ -491412,6 +494969,7 @@ synonym: "achlorhydria" EXACT [NCIT:C2850] synonym: "achylia gastrica" RELATED [MESH:D000126] synonym: "gastric anacidity" RELATED [] synonym: "hypochlorhydria" RELATED [MESH:D000126] +xref: icd11.foundation:157689543 {source="MONDO:equivalentTo"} xref: MESH:D000126 {source="MONDO:equivalentTo"} xref: NCIT:C2850 {source="MONDO:equivalentTo"} xref: SCTID:47481007 {source="MONDO:equivalentTo"} @@ -491578,6 +495136,7 @@ synonym: "post-traumatic brain syndrome" NARROW [] synonym: "post-traumatic dementia" NARROW [] synonym: "traumatic encephalopathy" EXACT [NCIT:C35542] xref: EFO:1001277 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1673722101 {source="MONDO:equivalentTo"} xref: NCIT:C35542 {source="MONDO:equivalentTo"} xref: SCTID:230282000 {source="MONDO:equivalentTo"} xref: UMLS:C0876926 {source="NCIT:C35542", source="MONDO:notFoundInDiseaseSubset"} @@ -491711,6 +495270,7 @@ synonym: "viral Conjunctivitides" RELATED [MESH:D003236] synonym: "viral conjunctivitis" EXACT [MESH:D003236, NCIT:C34509] synonym: "Viruses caused conjunctivitis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Viruses conjunctivitis (disease)" EXACT [] +xref: icd11.foundation:157616931 {source="MONDO:equivalentTo"} xref: MESH:D003236 {source="MONDO:equivalentTo"} xref: NCIT:C34509 {source="MONDO:equivalentTo"} xref: SCTID:45261009 {source="MONDO:equivalentTo"} @@ -492114,6 +495674,7 @@ synonym: "fallopian tube pregnancy" RELATED [] synonym: "Pregnancies, tubal" RELATED [MESH:D011274] synonym: "tubal Pregnancies" RELATED [MESH:D011274] synonym: "tubal pregnancy" EXACT [MESH:D011274, NCIT:C92946] +xref: icd11.foundation:913821868 {source="MONDO:equivalentTo"} xref: MESH:D011274 {source="MONDO:equivalentTo"} xref: NCIT:C92946 {source="MONDO:equivalentTo"} xref: SCTID:79586000 {source="MONDO:equivalentTo"} @@ -492132,6 +495693,7 @@ synonym: "presbyacusia" RELATED [] synonym: "Presbycuses" RELATED [MESH:D011304] synonym: "presbycusis" EXACT [NCIT:C116367] synonym: "senile deafness" RELATED [] +xref: icd11.foundation:1569854675 {source="MONDO:equivalentTo"} xref: MESH:D011304 {source="MONDO:equivalentTo"} xref: NCIT:C116367 {source="MONDO:equivalentTo"} xref: SCTID:49526009 {source="MONDO:equivalentTo"} @@ -492224,6 +495786,7 @@ def: "Progressive enlargement of the nose due to hypertrophy of the sebaceous gl synonym: "hypertrophic rosacea" RELATED [] synonym: "rhinophyma" EXACT [NCIT:C34989] synonym: "Rhinophymas" RELATED [MESH:D012224] +xref: icd11.foundation:158901546 {source="MONDO:equivalentTo"} xref: MESH:D012224 {source="MONDO:equivalentTo"} xref: NCIT:C34989 {source="MONDO:equivalentTo"} xref: SCTID:19877001 {source="MONDO:equivalentTo"} @@ -492238,6 +495801,7 @@ def: "A diffuse hardening of skin and subcutaneous adipose tissue, associated wi synonym: "sclerema adiposum" RELATED [] synonym: "sclerema neonatorum" EXACT [NCIT:C35009] synonym: "underwood's disease" RELATED [] +xref: icd11.foundation:1470028414 {source="MONDO:equivalentTo"} xref: MESH:D012593 {source="MONDO:equivalentTo"} xref: NCIT:C35009 {source="MONDO:equivalentTo"} xref: SCTID:206539008 {source="MONDO:equivalentTo"} @@ -492272,6 +495836,7 @@ synonym: "sickness, serum" RELATED [MESH:D012713] synonym: "Sicknesses, serum" RELATED [MESH:D012713] synonym: "transfusion reaction due to serum protein reaction" EXACT [] xref: EFO:1001845 {source="MONDO:equivalentTo"} +xref: icd11.foundation:715261250 {source="MONDO:equivalentTo"} xref: MESH:D012713 {source="MONDO:equivalentTo"} xref: NCIT:C79718 {source="MONDO:equivalentTo"} xref: SCTID:72284000 {source="MONDO:equivalentTo"} @@ -492539,6 +496104,7 @@ comment: Pneumonitis typically refers to non-infectious inflammation, whereas pn synonym: "inflammation of lung parenchyma" EXACT [] synonym: "lung parenchyma inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "pneumonitis" EXACT [NCIT:C113159] +xref: icd11.foundation:1324545867 {source="MONDO:equivalentTo"} xref: NCIT:C113159 {source="MONDO:equivalentTo"} xref: SCTID:205237003 {source="MONDO:equivalentTo"} xref: UMLS:C3714636 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C113159"} @@ -492564,6 +496130,7 @@ synonym: "radiation Pneumonias" RELATED [MESH:D017564] synonym: "radiation Pneumonitides" RELATED [MESH:D017564] synonym: "radiation pneumonitis" EXACT [] xref: EFO:0008517 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1914397767 {source="MONDO:equivalentTo"} xref: MESH:D017564 {source="MONDO:equivalentTo"} xref: SCTID:84004001 {source="MONDO:equivalentTo"} is_a: MONDO:0015925 {source="MESH:D017564"} ! interstitial lung disease @@ -492673,6 +496240,7 @@ synonym: "hyperreflexias, autonomic" RELATED [MESH:D020211] synonym: "spinal autonomic Dysreflexia" RELATED [MESH:D020211] synonym: "spinal autonomic Dysreflexias" RELATED [MESH:D020211] xref: EFO:1001762 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1401282234 {source="MONDO:equivalentTo"} xref: MESH:D020211 {source="MONDO:equivalentTo"} xref: SCTID:129618003 {source="MONDO:equivalentTo"} xref: UMLS:C0238015 {source="MONDO:equivalentTo"} @@ -492740,6 +496308,7 @@ name: acute cholecystitis def: "Acute inflammation of the gallbladder." [NCIT:C35152] subset: rare synonym: "acute cholecystitis" EXACT [MESH:D041881, NCIT:C35152] +xref: icd11.foundation:2071113448 {source="MONDO:equivalentTo"} xref: MESH:D041881 {source="MONDO:equivalentTo"} xref: NCIT:C35152 {source="MONDO:equivalentTo"} xref: SCTID:65275009 {source="MONDO:equivalentTo"} @@ -492800,6 +496369,7 @@ synonym: "thyroiditides, post-partum" RELATED [MESH:D050032] synonym: "thyroiditides, postpartum" RELATED [MESH:D050032] synonym: "thyroiditis, post-partum" RELATED [MESH:D050032] synonym: "thyroiditis, postpartum" RELATED [MESH:D050032] +xref: icd11.foundation:1577113218 {source="MONDO:equivalentTo"} xref: MESH:D050032 {source="MONDO:equivalentTo"} xref: NCIT:C114389 {source="MONDO:equivalentTo"} xref: SCTID:52772002 {source="MONDO:equivalentTo"} @@ -492943,6 +496513,7 @@ synonym: "non-gluten intolerance syndrome" RELATED [] synonym: "non-gluten sensitive enteropathy syndrome" EXACT [] synonym: "sprue, collagenous" RELATED [MESH:D064068] synonym: "Sprues, collagenous" RELATED [MESH:D064068] +xref: icd11.foundation:562877246 {source="MONDO:equivalentTo"} xref: MESH:D064068 {source="MONDO:equivalentTo"} xref: NCIT:C45426 {source="MONDO:equivalentTo"} xref: SCTID:61738006 {source="MONDO:equivalentTo"} @@ -495158,6 +498729,7 @@ subset: orphanet_rare {source="Orphanet:488239"} subset: rare synonym: "AMNR" EXACT ABBREVIATION [Orphanet:488239] xref: GARD:22000 {source="Orphanet:488239"} +xref: icd11.foundation:1081365759 {source="MONDO:equivalentTo"} xref: Orphanet:488239 {source="MONDO:equivalentTo"} is_a: MONDO:0005283 {source="Orphanet:488239"} ! retinal disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare @@ -496312,6 +499884,7 @@ subset: orphanet_rare {source="Orphanet:512103"} subset: rare synonym: "AREI" EXACT ABBREVIATION [Orphanet:512103] xref: GARD:22074 {source="Orphanet:512103"} +xref: icd11.foundation:244597687 {source="MONDO:equivalentTo"} xref: Orphanet:512103 {source="MONDO:equivalentTo"} is_a: MONDO:0007239 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolytic ichthyosis is_a: MONDO:0017266 {source="Orphanet:512103"} ! keratinopathic ichthyosis @@ -496631,6 +500204,7 @@ synonym: "nodular lymphocyte-predominant Hodgkin lymphoma" EXACT [NCIT:C7258] xref: GARD:19079 {source="Orphanet:86893"} xref: ICD10CM:C81.0 {source="Orphanet:86893", source="Orphanet:86893/ntbt"} xref: icd11.foundation:331115338 {source="Orphanet:86893", source="MONDO:equivalentTo"} +xref: icd11.foundation:331115338 {source="MONDO:equivalentTo"} xref: MEDGEN:233758 {source="UMLS:C1334968"} xref: MESH:D006689 {source="UMLS:C1334968"} xref: NCIT:C7258 {source="MONDO:equivalentTo"} @@ -496800,6 +500374,7 @@ synonym: "liver and intrahepatic biliary tract carcinoma" BROAD [NCIT:C3828] synonym: "Mixed hepatocellular cholangiocarcinoma" EXACT [NCIT:C3828] xref: GARD:22200 {source="Orphanet:529852"} xref: icd11.foundation:1097637010 {source="MONDO:equivalentTo", source="Orphanet:529852", source="https://orcid.org/0000-0001-5208-3432"} +xref: icd11.foundation:1600108866 {source="MONDO:equivalentTo"} xref: NCIT:C3828 {source="MONDO:equivalentTo"} xref: Orphanet:529852 {source="MONDO:equivalentTo"} xref: SCTID:274902006 {source="MONDO:equivalentTo"} @@ -497113,6 +500688,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "RCC" EXACT ABBREVIATION [NCIT:C82596] synonym: "refractory cytopenia of childhood" EXACT [NCIT:C82596] +xref: icd11.foundation:2129744611 {source="MONDO:equivalentTo"} +xref: icd11.foundation:699075426 {source="MONDO:equivalentTo"} xref: NCIT:C82596 {source="MONDO:equivalentTo"} xref: ONCOTREE:RCYC {source="MONDO:equivalentTo"} is_a: MONDO:0018881 {source="NCIT:C82596/inferred", source="ONCOTREE:RCYC"} ! myelodysplastic syndrome @@ -497148,6 +500725,7 @@ subset: orphanet_rare {source="Orphanet:623626"} subset: rare synonym: "paraneoplastic cerebellar degeneration" EXACT [NCIT:C4685] xref: GARD:22493 {source="Orphanet:623626"} +xref: icd11.foundation:1087616692 {source="MONDO:equivalentTo"} xref: MESH:D020362 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C4685 {source="MONDO:equivalentTo"} xref: Orphanet:623626 {source="MONDO:equivalentTo"} @@ -497778,6 +501356,7 @@ synonym: "benign tumor of adipose tissue" RELATED [NCIT:C4502] synonym: "benign tumor of the adipose tissue" EXACT [NCIT:C4502] synonym: "benign tumour of adipose tissue" RELATED OMO:0003005 [] synonym: "benign tumour of the adipose tissue" EXACT OMO:0003005 [] +xref: icd11.foundation:226447034 {source="MONDO:equivalentTo"} xref: NCIT:C4502 {source="MONDO:equivalentTo"} is_a: MONDO:0000654 {source="MONDO:Redundant", source="NCIT:C4502"} ! benign connective and soft tissue neoplasm is_a: MONDO:0021354 {source="MONDO:Redundant", source="NCIT:C4502"} ! tumor of adipose tissue @@ -498252,6 +501831,7 @@ def: "An instance of adrenogenital syndrome that is acquired during the lifetime subset: inferred_rare subset: rare synonym: "acquired adrenogenital syndrome" EXACT [MONDO:patterns/acquired] +xref: icd11.foundation:1228689964 {source="MONDO:equivalentTo"} xref: SCTID:190512008 {source="MONDO:equivalentTo"} xref: UMLS:C0237971 {source="MONDO:equivalentTo"} intersection_of: MONDO:0015898 ! adrenogenital syndrome @@ -498458,6 +502038,7 @@ subset: rare synonym: "nervous system sarcoidosis" EXACT [MONDO:patterns/location] synonym: "neurosarcoidosis" EXACT [] synonym: "sarcoidosis of nervous system" EXACT [] +xref: icd11.foundation:1479285656 {source="MONDO:equivalentTo"} xref: MESH:C535814 {source="MONDO:equivalentTo"} xref: SCTID:230193008 {source="MONDO:equivalentTo"} xref: UMLS:C0393485 {source="MONDO:equivalentTo"} @@ -498487,6 +502068,7 @@ def: "A cataract (disease) that involves the lens nucleus." [MONDO:design_patter synonym: "cataract (disease) of lens nucleus" EXACT [] synonym: "lens nucleus cataract (disease)" EXACT [MONDO:patterns/location] xref: HP:0100018 +xref: icd11.foundation:2020818341 {source="MONDO:equivalentTo"} xref: ICD9:366.04 xref: NCIT:C135176 {source="MONDO:equivalentTo"} xref: SCTID:53889007 {source="MONDO:equivalentTo"} @@ -498500,6 +502082,7 @@ name: cortical cataract def: "A cataract (disease) that involves the lens cortex." [MONDO:patterns/location] synonym: "cataract (disease) of lens cortex" EXACT [] synonym: "lens cortex cataract (disease)" EXACT [MONDO:patterns/location] +xref: icd11.foundation:1118806999 {source="MONDO:equivalentTo"} xref: ICD9:366.03 xref: NCIT:C135177 {source="MONDO:equivalentTo"} xref: SCTID:193576003 {source="MONDO:equivalentTo"} @@ -498560,6 +502143,7 @@ name: glycogen-rich carcinoma def: "A carcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. A representative example is the glycogen-rich, clear cell breast carcinoma." [NCIT:C4153] synonym: "Glycogen-rich carcinoma" EXACT [NCIT:C4153] xref: DOID:0081028 {source="MONDO:equivalentTo"} +xref: icd11.foundation:519667495 {source="MONDO:equivalentTo"} xref: NCIT:C4153 {source="MONDO:equivalentTo"} is_a: MONDO:0004993 {source="NCIT:C4153"} ! carcinoma @@ -498586,6 +502170,7 @@ def: "A disorder characterized by confusion; inattentiveness; disorientation; il synonym: "OBS syndrome" RELATED [PMID:15876360] synonym: "organic brain syndrome" RELATED [] xref: EFO:0009267 {source="MONDO:equivalentTo"} +xref: icd11.foundation:897917531 {source="MONDO:equivalentTo"} xref: ICD9:293.0 xref: MESH:D003693 {source="MONDO:equivalentTo"} xref: NCIT:C2981 {source="MONDO:equivalentTo"} @@ -498634,6 +502219,7 @@ name: cribriform carcinoma of breast synonym: "cribriform carcinoma" BROAD [] synonym: "ductal carcinoma, cribriform type" EXACT [DOID:5675] xref: DOID:5675 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1025219649 {source="MONDO:equivalentTo"} xref: NCIT:C3680 {source="DOID:5675"} xref: SCTID:30156004 {source="DOID:5675"} xref: UMLS:C0205643 {source="DOID:5675"} @@ -500325,6 +503911,7 @@ def: "Renal damage and impaired renal function secondary to urinary tract obstru synonym: "congenital obstructive nephropathy" EXACT [DOID:0070314] synonym: "obstructive nephropathy" EXACT [] xref: DOID:0070314 {source="MONDO:equivalentTo"} +xref: icd11.foundation:848128884 {source="MONDO:equivalentTo"} xref: ICD9:593.89 xref: NCIT:C120902 {source="MONDO:equivalentTo"} xref: SCTID:86249007 {source="MONDO:equivalentTo", source="DOID:0070314"} @@ -501666,6 +505253,7 @@ def: "A non-neoplastic or neoplastic polypoid lesion that arises from the anus. synonym: "anal polyp" EXACT [NCIT:C3957] synonym: "polyp of anus" EXACT [NCIT:C3957] synonym: "polyp of the anus" EXACT [NCIT:C3957] +xref: icd11.foundation:2038426249 {source="MONDO:equivalentTo"} xref: NCIT:C3957 {source="MONDO:equivalentTo"} xref: SCTID:88580009 {source="MONDO:equivalentTo"} xref: UMLS:C0267573 {source="MONDO:equivalentTo"} @@ -501684,6 +505272,7 @@ synonym: "fibroepithelial polyp of the gingiva" EXACT [NCIT:C4693] synonym: "fibroepithelial polyp of the gum" EXACT [NCIT:C4693] synonym: "gingival fibroepithelial polyp" EXACT [NCIT:C4693] synonym: "gum fibroepithelial polyp" EXACT [NCIT:C4693] +xref: icd11.foundation:1520492305 {source="MONDO:equivalentTo"} xref: NCIT:C4693 {source="MONDO:equivalentTo"} xref: SCTID:235001002 {source="MONDO:equivalentTo"} xref: UMLS:C0399441 {source="MONDO:equivalentTo"} @@ -501903,6 +505492,7 @@ name: food protein-induced enterocolitis syndrome def: "An eosinophilic gastrointestinal disorder triggered by food that is non-IgE-mediated." [PMID:25746969] synonym: "delayed food allergy" EXACT [] synonym: "FPIES" EXACT ABBREVIATION [] +xref: icd11.foundation:1729235847 {source="MONDO:equivalentTo"} is_a: MONDO:0009172 {source="https://orcid.org/0000-0001-5208-3432"} ! enterocolitis property_value: http://purl.org/dc/elements/1.1/date "2018-06-22T21:10:26Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -501973,6 +505563,7 @@ def: "An autoimmune disease characterized by sudden onset of photopsias and scot synonym: "AIR" EXACT ABBREVIATION [] synonym: "autoimmune disease of retina" EXACT [MONDO:design_pattern] synonym: "retina autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/location] +xref: icd11.foundation:1969888129 {source="MONDO:equivalentTo"} xref: SCTID:724809006 {source="MONDO:equivalentTo"} xref: UMLS:C3203657 {source="MONDO:equivalentTo"} is_a: MONDO:0000587 ! autoimmune disease of ear, nose and throat @@ -502018,6 +505609,7 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1582"} subset: rare xref: DOID:9212 {source="MONDO:equivalentTo"} xref: ICD10CM:L44.0 {source="MONDO:equivalentTo", source="Orphanet:2897", source="Orphanet:2897/specific", source="DOID:9212", source="Orphanet:2897/e"} +xref: icd11.foundation:2048594962 {source="MONDO:equivalentTo"} xref: ICD9:696.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9212"} xref: MESH:D010916 {source="MONDO:equivalentTo", source="Orphanet:2897", source="DOID:9212", source="Orphanet:2897/e"} xref: NCIT:C85014 {source="MONDO:equivalentTo", source="DOID:9212"} @@ -502125,6 +505717,7 @@ name: epilepsy of infancy with migrating focal seizures def: "This syndrome is characterized by onset of refractory focal seizures in the first year of life, with associated severe encephalopathy. Focal seizures arise independently in both hemispheres and can migrate from one cortical region to another randomly but consecutively in the same seizure. Seizures are often prolonged with episodes of status epilepticus. Prognosis is poor with severe neurological disability and reduced life expectancy, although a milder evolution has been reported in a few children." [https://orcid.org/0000-0001-8486-0558, https://www.epilepsydiagnosis.org/syndrome/infancy-migrating-focal-overview.html] subset: nord_rare {source="MONDO:NORD"} subset: rare +xref: icd11.foundation:1727727812 {source="MONDO:equivalentTo"} xref: SCTID:733195008 {source="MONDO:equivalentTo"} xref: UMLS:C4518639 {source="MONDO:equivalentTo"} is_a: MONDO:0100022 {source="https://orcid.org/0000-0001-8486-0558"} ! neonatal/infantile epilepsy syndrome @@ -502223,6 +505816,7 @@ name: cerebral folate deficiency def: "Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system." [https://orcid.org/0000-0001-8486-0558, https://www.epilepsydiagnosis.org/etiology/metabolic-groupoverview.html] subset: inferred_rare subset: rare +xref: icd11.foundation:1137222547 {source="MONDO:equivalentTo"} is_a: MONDO:0005528 ! inborn vitamin metabolic disorder is_a: MONDO:0100033 ! metabolic epilepsy property_value: http://purl.org/dc/elements/1.1/date "2018-06-23T19:01:19Z" xsd:dateTime @@ -502479,6 +506073,7 @@ name: anaphylaxis def: "An acute hypersensitivity reaction that occurs from exposure to an allergen. It results from the release of histamine and histamine-like substances from mast cells, and can present with breathing difficulty due to narrowed airways, dizziness and hypotension, skin rash, weak pulse, nausea and vomiting." [NCIT:C107101] synonym: "anaphylactic shock" EXACT [] synonym: "systemic anaphylaxis" EXACT [PMID:18596587] +xref: icd11.foundation:1868068711 {source="MONDO:equivalentTo"} xref: MedDRA:10002198 xref: MESH:D000707 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C107101 {source="MONDO:equivalentTo"} @@ -502516,6 +506111,7 @@ id: MONDO:0100056 name: exercise-induced anaphylaxis def: "A rare disorder in which anaphylaxis occurs in association with physical activity." [GARD:0006392] synonym: "EIAn" EXACT [GARD:0006392] +xref: icd11.foundation:1069179856 {source="MONDO:equivalentTo"} is_a: MONDO:0100053 {source="https://orcid.org/0000-0001-5208-3432"} ! anaphylaxis property_value: http://purl.org/dc/elements/1.1/date "2018-08-15T17:51:10Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -502525,6 +506121,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6392/exercis id: MONDO:0100057 name: food-dependent exercise-induced anaphylaxis def: "A subset of exercise-induced anaphylaxis in which symptoms develop if exertion takes place within a few hours of eating a specific food. In the case of food-dependent exercise-induced anaphylaxis, neither the food nor the exercise alone is enough to cause anaphylaxis." [GARD:0006392] +xref: icd11.foundation:854135859 {source="MONDO:equivalentTo"} is_a: MONDO:0100056 {source="https://orcid.org/0000-0001-5208-3432"} ! exercise-induced anaphylaxis property_value: http://purl.org/dc/elements/1.1/date "2018-08-15T17:55:08Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -502668,6 +506265,7 @@ synonym: "TH deficiency" EXACT [https://orcid.org/0000-0002-5655-9589] synonym: "tyrosine 3-monooxygenase deficiency" EXACT [https://orcid.org/0000-0002-5655-9589] synonym: "tyrosine Hydroxylase deficiency" EXACT [OMIM:605407] synonym: "tyrosine hydroxylase deficiency" EXACT CLINGEN_LABEL [] +xref: icd11.foundation:247698609 {source="MONDO:equivalentTo"} xref: NCIT:C157158 {source="MONDO:equivalentTo"} xref: Orphanet:101150 is_a: MONDO:0019219 ! inborn disorder of neurotransmitter metabolism and transport @@ -503062,6 +506660,7 @@ id: MONDO:0100094 name: cannabinoid hyperemesis syndrome def: "A syndrome of cyclic vomiting associated with cannabis use. Fourteen diagnostic characteristics have been identified, and the frequency of major characteristics is as follows: history of regular cannabis for any duration of time (100%), cyclic nausea and vomiting (100%), resolution of symptoms after stopping cannabis (96.8%), compulsive hot baths with symptom relief (92.3%), male predominance (72.9%), abdominal pain (85.1%), and at least weekly cannabis use (97.4%). Supportive care with intravenous fluids, dopamine antagonists, topical capsaicin cream, and avoidance of narcotic medications has shown some benefit in the acute setting. Cannabis cessation appears to be the best treatment." [PMID:28000146, Wikipedia:Cannabinoid_hyperemesis_syndrome] synonym: "CHS" EXACT ABBREVIATION [PMID:28000146] +xref: icd11.foundation:908145983 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 ! syndromic disease relationship: disease_has_major_feature HP:0002017 ! Nausea and vomiting relationship: disease_has_major_feature HP:0002027 ! Abdominal pain @@ -503104,6 +506703,7 @@ synonym: "β-CoV" RELATED [https://nextstrain.org/groups/blab/sars-like-cov, htt synonym: "β-CoVs" RELATED [https://nextstrain.org/groups/blab/sars-like-cov, https://orcid.org/0000-0002-2825-0621] xref: DOID:0080600 {source="MONDO:equivalentTo"} xref: ICD10CM:U07.1 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1730556128 {source="MONDO:equivalentTo"} xref: MESH:C000657245 {source="MONDO:equivalentObsolete"} xref: MESH:D000086382 {source="MONDO:equivalentTo"} xref: SCTID:840539006 {source="MONDO:equivalentTo"} @@ -503369,6 +506969,7 @@ synonym: "camel flu" EXACT [Wikipedia:Middle_East_respiratory_syndrome] synonym: "MERS" EXACT ABBREVIATION [NCIT:C128424] xref: DOID:0080642 {source="MONDO:equivalentTo"} xref: GARD:22321 {source="Orphanet:576074"} +xref: icd11.foundation:1840423014 {source="MONDO:equivalentTo"} xref: icd11.foundation:1840423014 {source="MONDO:equivalentTo", source="Orphanet:576074"} xref: NCIT:C128424 {source="MONDO:equivalentTo"} xref: Orphanet:576074 {source="MONDO:equivalentTo"} @@ -503574,6 +507175,7 @@ synonym: "ARDS" RELATED ABBREVIATION [https://orcid.org/0000-0002-2825-0621] synonym: "respiratory distress syndrome, adult" EXACT [GARD:0005698] xref: DOID:11394 {source="MONDO:equivalentTo"} xref: GARD:18902 {source="Orphanet:70578"} +xref: icd11.foundation:1466842111 {source="MONDO:equivalentTo"} xref: MESH:D012128 {source="MONDO:equivalentTo", source="DOID:11394", source="EFO:1000637"} xref: Orphanet:70578 {source="MONDO:equivalentTo"} xref: SCTID:67782005 {source="MONDO:equivalentTo", source="DOID:11394"} @@ -503655,6 +507257,7 @@ synonym: "myoclonic epilepsy, severe, of infancy" RELATED [GARD:0010430] synonym: "SME" RELATED ABBREVIATION [GARD:0010430] xref: DOID:0060171 {source="MONDO:equivalentObsolete"} xref: DOID:0080422 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1255654700 {source="MONDO:equivalentTo"} xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C116573 {source="MONDO:equivalentTo"} xref: NORD:1061 {source="MONDO:NORD"} @@ -503864,6 +507467,7 @@ synonym: "Abderhalden-Lignac-Kaufmann disease" EXACT [MESH:C535335] synonym: "CTNS" EXACT ABBREVIATION [OMIM:219800] synonym: "cystinosis, atypical nephropathic" EXACT [OMIM:219800, OMIM:genemap2] synonym: "cystinosis, nephropathic" EXACT [MONDO:Lexical, OMIM:219800] +xref: icd11.foundation:810546659 {source="MONDO:equivalentTo"} xref: MESH:C535335 {source="MONDO:equivalentTo"} xref: NCIT:C129932 {source="MONDO:equivalentTo"} xref: OMIM:219800 {source="MONDO:equivalentTo", source="Orphanet:411629"} @@ -504065,6 +507669,7 @@ synonym: "PNDM" EXACT ABBREVIATION [DOID:0060639, MONDO:Lexical, OMIMPS:606176, xref: DOID:0060639 {source="MONDO:equivalentTo"} xref: GARD:10457 {source="Orphanet:99885"} xref: ICD10CM:P70.2 {source="Orphanet:99885", source="Orphanet:99885/attributed", source="Orphanet:99885/ntbt"} +xref: icd11.foundation:33655955 {source="MONDO:equivalentTo"} xref: MESH:C563425 {source="MONDO:equivalentTo"} xref: NCIT:C114902 {source="MONDO:equivalentTo"} xref: OMIMPS:606176 {source="Orphanet:99885", source="MONDO:equivalentTo", source="Orphanet:99885/e", source="DOID:0060639"} @@ -504315,6 +507920,7 @@ synonym: "immune restoration disease" EXACT [PMID:22121257] synonym: "IRD" EXACT ABBREVIATION [PMID:22121257] synonym: "IRIS" EXACT ABBREVIATION [PMID:22121257] synonym: "IRS" EXACT ABBREVIATION [PMID:22121257] +xref: icd11.foundation:180703474 {source="MONDO:equivalentTo"} xref: MESH:D054019 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: NCIT:C125712 {source="MONDO:relatedTo"} is_a: MONDO:0005046 {source="PMID:22121257"} ! immune system disorder @@ -505328,6 +508934,7 @@ synonym: "XX, male syndrome" EXACT [Orphanet:393] xref: DOID:0111760 {source="MONDO:equivalentTo"} xref: GARD:399 {source="Orphanet:393"} xref: ICD10CM:Q99.1 {source="Orphanet:393", source="Orphanet:393/attributed", source="Orphanet:393/ntbt"} +xref: icd11.foundation:1357942532 {source="MONDO:equivalentTo"} xref: MESH:D058531 {source="MONDO:equivalentTo", source="Orphanet:393", source="Orphanet:393/e"} xref: NCIT:C127170 {source="MONDO:equivalentTo"} xref: Orphanet:393 {source="OMIM:400045", source="MONDO:equivalentTo"} @@ -505872,6 +509479,7 @@ synonym: "Waldenström macroglobulinemia" EXACT [NCIT:C80307] xref: DOID:0060901 {source="MONDO:equivalentTo"} xref: GARD:7872 {source="Orphanet:33226"} xref: ICD10CM:C88.0 {source="Orphanet:33226", source="MONDO:equivalentTo", source="Orphanet:33226/e", source="DOID:0060901"} +xref: icd11.foundation:889177824 {source="MONDO:equivalentTo"} xref: MedDRA:10047801 {source="Orphanet:33226", source="Orphanet:33226/e"} xref: MESH:D008258 {source="Orphanet:33226", source="MONDO:equivalentTo", source="Orphanet:33226/e", source="DOID:0060901"} xref: NCIT:C80307 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -505943,6 +509551,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "biliary atresia, extrahepatic" EXACT [MONDO:Lexical, OMIM:210500] synonym: "EHBA" EXACT [http://purl.obolibrary.org/obo/mondo#ABBREVIATION, MONDO:Lexical, OMIM:210500] +xref: icd11.foundation:1813934523 {source="MONDO:equivalentTo"} xref: NCIT:C97069 {source="DOID:13608", source="MONDO:equivalentTo"} xref: OMIM:210500 {source="MONDO:equivalentTo"} xref: SCTID:82821008 {source="https://orcid.org/0000-0001-5493-2602"} @@ -506009,6 +509618,7 @@ synonym: "Favre hyaloideoretinal Degeneration" RELATED [OMIM:268100] synonym: "retinoschisis with early nyctalopia" EXACT [Orphanet:53540] xref: GARD:10781 {source="Orphanet:53540"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:53540/attributed", source="Orphanet:53540/ntbt", source="Orphanet:53540"} +xref: icd11.foundation:890235941 {source="MONDO:equivalentTo"} xref: Orphanet:53540 {source="OMIM:268100", source="MONDO:equivalentTo"} xref: SCTID:232065000 {source="MONDO:equivalentTo"} xref: UMLS:C0339541 {source="Orphanet:53540/e", source="OMIM:268100", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:53540"} @@ -506289,6 +509899,7 @@ xref: DOID:0050951 {source="MONDO:equivalentTo"} xref: GARD:20286 {source="Orphanet:183518"} xref: ICD10CM:G10-G14 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:G11 {source="MONDO:equivalentTo"} +xref: icd11.foundation:442347652 {source="MONDO:equivalentTo"} xref: MESH:C531684 {source="MONDO:equivalentTo"} xref: Orphanet:183518 {source="MONDO:equivalentTo"} xref: SCTID:763597000 {source="MONDO:equivalentTo"} @@ -506530,6 +510141,7 @@ subset: orphanet_rare {source="Orphanet:849"} subset: rare synonym: "Glanzmann thrombasthenia" EXACT CLINGEN_LABEL [] xref: GARD:2478 {source="Orphanet:849"} +xref: icd11.foundation:1927726560 {source="MONDO:equivalentTo"} xref: NORD:1186 {source="MONDO:NORD"} xref: OMIMPS:273800 {source="MONDO:equivalentTo"} xref: Orphanet:849 {source="MONDO:equivalentTo"} @@ -506664,6 +510276,7 @@ synonym: "hereditary spinal sclerosis" RELATED [GARD:0006468] synonym: "spinocerebellar ataxia, Friedreich" RELATED [GARD:0006468] xref: DOID:12705 {source="MONDO:equivalentTo"} xref: ICD10CM:G11.1 {source="Orphanet:95/ntbt", source="Orphanet:95/inclusion", source="Orphanet:95"} +xref: icd11.foundation:980686666 {source="MONDO:equivalentTo"} xref: ICD9:334.0 {source="MONDO:equivalentTo", source="DOID:12705", source="MONDO:i2s"} xref: MedDRA:10017374 {source="Orphanet:95/e", source="Orphanet:95"} xref: MESH:D005621 {source="Orphanet:95/e", source="MONDO:equivalentTo", source="DOID:12705", source="Orphanet:95"} @@ -506838,6 +510451,7 @@ xref: EFO:1000062 {source="MONDO:equivalentTo"} xref: HP:0004789 {source="MONDO:otherHierarchy"} xref: ICD10CM:E73 {source="DOID:10604"} xref: ICD10CM:E73.9 {source="DOID:10604"} +xref: icd11.foundation:1026224967 {source="MONDO:equivalentTo"} xref: ICD9:271.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D007787 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo", source="DOID:10604"} xref: NCIT:C3154 {source="MONDO:equivalentTo", source="DOID:10604"} @@ -506884,6 +510498,7 @@ xref: DOID:8600 {source="EFO:1000852", source="MONDO:obsolete"} xref: EFO:1000852 {source="MONDO:equivalentTo"} xref: GARD:5994 {source="Orphanet:100093"} xref: ICD10CM:E34.0 {source="Orphanet:100093/e", source="MONDO:equivalentTo", source="EFO:1000852", source="Orphanet:100093"} +xref: icd11.foundation:111763187 {source="MONDO:equivalentTo"} xref: icd11.foundation:111763187 {source="MONDO:equivalentTo", source="Orphanet:100093"} xref: ICD9:259.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="EFO:1000852"} xref: MedDRA:10007270 {source="EFO:1000852"} @@ -508064,6 +511679,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0100426 name: iatrogenic def: "A characteristic of a diseae which results from diagnostic and therapeutic procedures undertaken on a patient." [PMID:27407693] +xref: icd11.foundation:4953745 {source="MONDO:equivalentTo"} is_a: MONDO:0100369 {source="https://orcid.org/0000-0001-5208-3432"} ! iatrogenic or non-iatrogenic property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -508116,6 +511732,7 @@ synonym: "RICP" RELATED ABBREVIATION [GARD:0009804] xref: DOID:0070227 {source="MONDO:equivalentTo"} xref: EFO:0009048 {source="MONDO:equivalentTo"} xref: GARD:9804 {source="Orphanet:69665"} +xref: icd11.foundation:1576251337 {source="MONDO:equivalentTo"} xref: MESH:C535932 {source="MONDO:equivalentTo", source="DOID:0070227"} xref: Orphanet:69665 {source="MONDO:equivalentTo", source="DOID:0070227"} is_a: MONDO:0019072 {source="Orphanet:69665"} ! intrahepatic cholestasis @@ -508140,6 +511757,7 @@ subset: rare synonym: "common migraine" EXACT [NCIT:C117004] xref: DOID:12783 {source="MONDO:equivalentTo"} xref: EFO:0005296 {source="MONDO:equivalentTo"} +xref: icd11.foundation:2048783472 {source="MONDO:equivalentTo"} xref: MESH:D020326 {source="MONDO:equivalentTo"} xref: NCIT:C117004 {source="MONDO:equivalentTo"} xref: SCTID:56097005 {source="MONDO:equivalentTo"} @@ -508671,6 +512289,7 @@ xref: DOID:14227 {source="MONDO:equivalentTo"} xref: EFO:0000279 {source="MONDO:equivalentTo", source="DOID:14227"} xref: ICD10CM:N46.0 {source="DOID:14227"} xref: ICD10CM:N46.01 {source="DOID:14227"} +xref: icd11.foundation:532688254 {source="MONDO:equivalentTo"} xref: ICD9:606.0 {source="EFO:0000279", source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14227"} xref: MESH:D053713 {source="EFO:0000279", source="MONDO:equivalentTo", source="DOID:14227"} xref: NCIT:C80076 {source="EFO:0000279", source="MONDO:otherHierarchy", source="DOID:14227"} @@ -508771,6 +512390,7 @@ synonym: "butterfly-shaped pattern dystrophy" EXACT [Orphanet:99001] synonym: "butterfly-shaped pigment dystrophy" EXACT [Orphanet:99001] synonym: "butterfly-shaped pigmentary macular dystrophy" EXACT [Orphanet:99001] xref: GARD:16890 {source="Orphanet:99001"} +xref: icd11.foundation:1639469808 {source="MONDO:equivalentTo"} xref: Orphanet:99001 {source="MONDO:equivalentTo"} xref: SCTID:725590001 {source="MONDO:equivalentTo"} xref: UMLS:C4511237 {source="MONDO:equivalentTo"} @@ -508849,6 +512469,7 @@ xref: DOID:10574 {source="MONDO:equivalentObsolete"} xref: EFO:0003762 {source="MONDO:equivalentTo"} xref: HP:0100512 {source="MONDO:otherHierarchy"} xref: ICD10CM:E55 {source="EFO:0003762", source="MONDO:equivalentTo"} +xref: icd11.foundation:2080031371 {source="MONDO:equivalentTo"} xref: ICD9:268 {source="EFO:0003762", source="MONDO:equivalentTo", source="DOID:10574"} xref: MESH:D014808 {source="EFO:0003762", source="MONDO:equivalentTo"} xref: NCIT:C114830 {source="EFO:0003762", source="MONDO:equivalentTo", source="DOID:10574"} @@ -509300,6 +512921,7 @@ xref: ICD10CM:C50.4 {source="Orphanet:213557/btnt", source="Orphanet:213557"} xref: ICD10CM:C50.5 {source="Orphanet:213557/btnt", source="Orphanet:213557"} xref: ICD10CM:C50.6 {source="Orphanet:213557/btnt", source="MONDO:relatedTo", source="Orphanet:213557"} xref: ICD10CM:C50.8 {source="Orphanet:213557/btnt", source="Orphanet:213557"} +xref: icd11.foundation:2145246967 {source="MONDO:equivalentTo"} xref: Orphanet:213557 {source="MONDO:equivalentTo"} xref: SCTID:716593008 {source="MONDO:equivalentTo"} is_a: MONDO:0007254 {source="Orphanet:213557", source="https://orcid.org/0000-0001-5208-3432"} ! breast cancer @@ -509340,6 +512962,7 @@ name: sudden cardiac arrest def: "The sudden loss of all heart activity due to an irregular heart rhythm." [https://www.mayoclinic.org/diseases-conditions/sudden-cardiac-arrest/symptoms-causes/syc-20350634] comment: Change to current cardiac arrthymia parent requested and confirmed as a correct use of is-a by James Ware, cardiac expert. {source="EFO:0004278"} xref: EFO:0004278 {source="MONDO:equivalentTo"} +xref: icd11.foundation:264292672 {source="MONDO:equivalentTo"} xref: MESH:C1720824 {source="MONDO:equivalentTo"} is_a: MONDO:0007263 {source="https://orcid.org/0000-0001-5208-3432"} ! cardiac rhythm disease property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -509356,6 +512979,7 @@ subset: rare synonym: "deoxyguanosine kinase deficiency" EXACT [Orphanet:254871] synonym: "mtDNA depletion syndrome, hepatocerebral form" EXACT [Orphanet:254871] xref: GARD:20769 {source="Orphanet:254871"} +xref: icd11.foundation:1285620325 {source="MONDO:equivalentTo"} xref: MESH:C580039 {source="MONDO:equivalentTo"} xref: Orphanet:254871 {source="MONDO:equivalentTo"} is_a: MONDO:0005066 {source="Orphanet:254871", source="https://orcid.org/0000-0001-5208-3432"} ! metabolic disease @@ -509770,6 +513394,7 @@ def: "A benign tumor of the liver, characterized by hyperplastic growth of hepat synonym: "FNH" EXACT ABBREVIATION [https://orcid.org/0000-0001-8134-3037] synonym: "focal nodular hyperplasia of the liver" EXACT [NCIT:C4916] synonym: "hepatic focal nodular hyperplasia" EXACT [https://orcid.org/0000-0001-8134-3037] +xref: icd11.foundation:1016131226 {source="MONDO:equivalentTo"} xref: NCIT:C4916 is_a: MONDO:0859689 {source="https://orcid.org/0000-0001-8134-3037"} ! hepatobiliary benign neoplasm property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -509814,6 +513439,7 @@ synonym: "transthyretin amyloid neuropathy" RELATED [GARD:0000656] synonym: "transthyretin amyloid polyneuropathy" RELATED [GARD:0000656] synonym: "TTR amyloid neuropathyy" RELATED [GARD:0000656] xref: GARD:16754 {source="Orphanet:85447"} +xref: icd11.foundation:1736273667 {source="MONDO:equivalentTo"} xref: Orphanet:85447 {source="MONDO:equivalentTo"} is_a: MONDO:0007100 {source="Orphanet:85447"} ! familial amyloid neuropathy property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -509901,6 +513527,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0100560 name: ligneous conjunctivitis def: "A rare form of chronic conjunctivitis characterized by the development of firm fibrin-rich, woody-like pseudomembraneous lesions mainly on the tarsal conjunctivae. Ligneous conjunctivitis is usually the initial and most common manifestation of type I congenital plasminogen deficiency." [OMIM:217090, PMID:12850227] +xref: icd11.foundation:1464324556 {source="MONDO:equivalentTo"} xref: OMIM:217090 {source="MONDO:includedEntryInOMIM"} is_a: MONDO:0006170 {source="OMIM:217090"} ! conjunctival disorder property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -510052,6 +513679,7 @@ id: MONDO:0400003 name: skeletal fluorosis def: "A condition that results from excessive fluoride ingestion leading to fluoride accumulation in the bone progressively over many years. The early symptoms of skeletal fluorosis, include stiffness and pain in the joints. In severe cases, the bone structure may change and ligaments may calcify, with resulting impairment of muscles and pain." [PMID:3295994] synonym: "fluorosis of the skeleton" EXACT [] +xref: icd11.foundation:1269698463 {source="MONDO:equivalentTo"} is_a: MONDO:0005066 ! metabolic disease property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-7463-6306 @@ -510061,6 +513689,7 @@ name: phrynoderma def: "Phrynoderma is a form of follicular hyperkeratosis seen in young children and adolescents due to nutritional deficiencies. It is clinically characterized by discrete, follicular, skin-colored papules with keratotic plugs distributed over elbows, knees, extensor extremities, and buttocks." [doi:10.4103/2319-7250.175657, NCIT:C112827, PMID:21965845] subset: nord_rare {source="MONDO:NORD"} subset: rare +xref: icd11.foundation:1716182078 {source="MONDO:equivalentTo"} is_a: MONDO:0019268 ! epidermal disease property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-7463-6306 @@ -510092,6 +513721,7 @@ subset: rare synonym: "EAE" EXACT ABBREVIATION [GARD:0013029] synonym: "Gleich syndrome" EXACT [GARD:0013029] synonym: "Gleich's syndrome" EXACT [GARD:0013029] +xref: icd11.foundation:1511563398 {source="MONDO:equivalentTo"} is_a: MONDO:0015691 ! hypereosinophilic syndrome property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5839-2535 @@ -510219,6 +513849,7 @@ def: "A lethal, developmental lung malformation resulting in neonatal respirator subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "AcDys" EXACT ABBREVIATION [https://orcid.org/0000-0003-0113-912X] +xref: icd11.foundation:1890124170 {source="MONDO:equivalentTo"} is_a: MONDO:0005087 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-3458-4839"} ! respiratory system disorder property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3188" xsd:anyURI @@ -510273,6 +513904,7 @@ def: "Idiopathic form of inflammatory myopathy." [MONDO:patterns/idiopathic] subset: inferred_rare subset: rare synonym: "idiopathic myositis" EXACT [https://orcid.org/0000-0001-5208-3432] +xref: icd11.foundation:464294586 {source="MONDO:equivalentTo"} xref: MESH:D009220 xref: NCIT:C116796 {source="MONDO:equivalentTo"} xref: Orphanet:98482 @@ -510301,6 +513933,7 @@ name: hydrosalpinx def: "Fluid accumulation and dilatation of the fallopian tube due to tubal blockage." [NCIT:C142886, PMID:30824209] synonym: "blocked fallopian tube" EXACT [https://fertilitynj.com/infertility/female-infertility/structural-causes/hydrosalpinx/, https://orcid.org/0000-0002-1196-4871] synonym: "fallopian tube obstruction" EXACT [https://orcid.org/0000-0002-1196-4871, Wikipedia:Fallopian_tube_obstruction] +xref: icd11.foundation:1766606192 {source="MONDO:equivalentTo"} xref: NCIT:C142886 {source="MONDO:equivalentTo"} is_a: MONDO:0002156 {source="PMID:30824209", source="https://orcid.org/0000-0002-1196-4871"} ! fallopian tube disorder property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025 @@ -510428,6 +514061,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-414 id: MONDO:0700005 name: idiopathic def: "A disease characteristic in which the disease has an uncertain or unknown cause." [https://github.com/monarch-initiative/mondo/issues/3177, https://orcid.org/0000-0002-4142-7153] +xref: icd11.foundation:894194405 {source="MONDO:equivalentTo"} is_a: MONDO:0700004 {source="https://github.com/monarch-initiative/mondo/issues/3177", source="https://orcid.org/0000-0002-4142-7153"} ! idiopathic vs non-idiopathic property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 @@ -510700,6 +514334,7 @@ def: "Trisomy 21 characterized by the presence of an extra chromosome 21 in all subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "standard trisomy 21" EXACT [https://includedcc.org/] +xref: icd11.foundation:1624623908 {source="MONDO:equivalentTo"} is_a: MONDO:0700126 {source="https://orcid.org/0000-0001-5208-3432"} ! trisomy 21 intersection_of: MONDO:0700126 ! trisomy 21 intersection_of: has_characteristic MONDO:0700063 ! complete @@ -510722,6 +514357,7 @@ name: complete trisomy 18 def: "Trisomy 18 in which the presence of an extra copy of chromosome 18 is present in all the cells of the organism." [https://orcid.org/0000-0002-4142-7153, PMID:27087248] subset: inferred_rare subset: rare +xref: icd11.foundation:1505179968 {source="MONDO:equivalentTo"} xref: UMLS:C0152096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} intersection_of: MONDO:0018071 ! trisomy 18 intersection_of: has_characteristic MONDO:0700063 ! complete @@ -510733,6 +514369,7 @@ name: complete trisomy 13 def: "Trisomy 13 in which the presence of an extra copy of chromosome 13 is present in all the cells of the organism." [doi:10.1186/1753-6561-9-S1-A51, https://orcid.org/0000-0002-4142-7153] subset: inferred_rare subset: rare +xref: icd11.foundation:1435958084 {source="MONDO:equivalentTo"} intersection_of: MONDO:0018068 ! trisomy 13 intersection_of: has_characteristic MONDO:0700063 ! complete property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 @@ -510861,6 +514498,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0700045 name: protothecosis def: "A disease caused by infection with achlorophyllic algae of the genus Prototheca, the majority caused by the species P. wickerhamii. Clinical manifestations of reported cases have included cutaneous lesions, olecranon bursitis, or systemic involvement." [MONDO:patterns/infectious_disease_by_agent, PMID:15124862] +xref: icd11.foundation:2034403589 {source="MONDO:equivalentTo"} is_a: MONDO:0005550 {source="PMID:15124862"} ! infectious disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_infectious_agent NCBITaxon:3110 ! Prototheca @@ -511744,6 +515382,7 @@ id: MONDO:0700115 name: proliferative vitreoretinopathy def: "Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes." [MESH:D018630] xref: EFO:1001129 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1908429642 {source="MONDO:equivalentTo"} xref: MESH:D018630 {source="MONDO:equivalentTo"} xref: SCTID:232016005 {source="MONDO:equivalentTo"} xref: UMLS:C0242852 {source="MONDO:equivalentTo"} @@ -512711,6 +516350,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-414 id: MONDO:0700207 name: constitutional delay of growth and puberty def: "Transient state of hypogonadotropic hypogonadism associated with prolongation of childhood phase of growth, delayed skeletal maturation, delayed and attenuated pubertal growth spurt, and relatively low insulin-like growth factor-1 secretion." [https://orcid.org/0000-0001-7151-1615, PMID:23087852] +xref: icd11.foundation:1683573263 {source="MONDO:equivalentTo"} xref: SCTID:237813007 {source="MONDO:equivalentTo"} xref: UMLS:C0342538 {source="MONDO:equivalentTo"} is_a: MONDO:0021147 {source="PMID:23087852"} ! disorder of development or morphogenesis @@ -512839,6 +516479,7 @@ synonym: "leptomeningeal metastasis" EXACT [PMID:29535794] synonym: "meningeal carcinomatosis" EXACT [PMID:29535794] synonym: "meningeal metastasis" EXACT [PMID:29535794] synonym: "metastatic malignant neoplasm in the leptomeninges" EXACT [NCIT:C3814] +xref: icd11.foundation:262966673 {source="MONDO:equivalentTo"} xref: NCIT:C3814 {source="MONDO:equivalentTo"} is_a: MONDO:0024880 {source="NCIT:C3814", source="PMID:29535794"} ! metastatic malignant neoplasm property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5495" xsd:string @@ -514339,6 +517980,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0800105 name: catatonia def: "A psychiatric disorder featuring stupor, posturing, and echophenomena." [PMID:31196793] +xref: icd11.foundation:486722075 {source="MONDO:equivalentTo"} xref: MESH:D002389 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} is_a: MONDO:0002025 {source="PMID:31196793"} ! psychiatric disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5199" xsd:anyURI @@ -514434,6 +518076,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0800117 name: cutaneous botryomycosis def: "A botromycosis that involves the skin and subcutaneous tissue (it is a more common type)." [https://www.uptodate.com/contents/botryomycosis, PMID:9524833] +xref: icd11.foundation:1888048529 {source="MONDO:equivalentTo"} is_a: MONDO:0400006 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! botryomycosis property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI @@ -514816,6 +518459,7 @@ id: MONDO:0800166 name: Knobloch syndrome subset: nord_rare {source="MONDO:NORD"} subset: rare +xref: icd11.foundation:1664056510 {source="MONDO:equivalentTo"} xref: OMIMPS:267750 {source="MONDO:equivalentTo"} xref: UMLS:C1849409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020248 {source="OMIMPS:267750"} ! vitreoretinal degeneration @@ -514877,6 +518521,7 @@ subset: rare xref: GARD:19362 {source="Orphanet:97292"} xref: ICD10CM:R57.0 {source="MONDO:equivalentTo"} xref: icd11.foundation:1974956233 {source="MONDO:equivalentTo", source="Orphanet:97292"} +xref: icd11.foundation:1974956233 {source="MONDO:equivalentTo"} xref: MedDRA:10007625 {source="Orphanet:97292"} xref: Orphanet:97292 {source="MONDO:equivalentTo"} xref: UMLS:C0036980 {source="MONDO:equivalentTo"} @@ -514901,6 +518546,7 @@ id: MONDO:0800177 name: frostbite def: "An injury to the skin and/or its underlying tissues that results from exposure of the affected area to extreme cold." [NCIT:C34627] xref: EFO:0009527 {source="MONDO:equivalentTo"} +xref: icd11.foundation:152692065 {source="MONDO:equivalentTo"} xref: NCIT:C34627 {source="MONDO:equivalentTo"} xref: SCTID:370977006 {source="MONDO:equivalentTo"} is_a: MONDO:0021178 {source="NCIT:C34627"} ! injury @@ -515026,6 +518672,7 @@ name: alopecia universalis subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "AU" EXACT ABBREVIATION [OMIM:104000] +xref: icd11.foundation:69070500 {source="MONDO:equivalentTo"} xref: OMIM:104000 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C0263505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder @@ -515347,6 +518994,7 @@ name: myelofibrosis with myeloid metaplasia subset: inferred_rare subset: rare synonym: "MMM" EXACT [OMIM:254450] +xref: icd11.foundation:673220507 {source="MONDO:equivalentTo"} xref: OMIM:254450 {source="MONDO:includedEntryInOMIM"} is_a: MONDO:0009692 {source="https://orcid.org/0000-0001-5208-3432"} ! primary myelofibrosis property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI @@ -515367,6 +519015,7 @@ name: de la Chapelle dysplasia subset: inferred_rare subset: rare synonym: "DLCD" EXACT ABBREVIATION [OMIM:256050] +xref: icd11.foundation:248590292 {source="MONDO:equivalentTo"} xref: OMIM:256050 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C1850555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018230 {source="https://orcid.org/0000-0001-5208-3432"} ! skeletal dysplasia @@ -516640,6 +520289,7 @@ subset: orphanet_rare {source="Orphanet:220443"} subset: rare xref: GARD:17132 {source="Orphanet:220443"} xref: ICD10CM:D69.8 {source="Orphanet:220443/attributed", source="Orphanet:220443/ntbt", source="Orphanet:220443"} +xref: icd11.foundation:1676860885 {source="MONDO:equivalentTo"} xref: icd11.foundation:1676860885 {source="Orphanet:220443", source="MONDO:equivalentTo"} xref: Orphanet:220443 {source="MONDO:equivalentTo", source="OMIM:614009"} is_a: MONDO:0000009 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited bleeding disorder, platelet-type @@ -516715,6 +520365,7 @@ subset: rare synonym: "LAL deficiency" EXACT [Orphanet:275761] xref: DOID:0080217 {source="MONDO:equivalentTo"} xref: ICD10CM:E75.5 {source="Orphanet:275761/attributed", source="Orphanet:275761/ntbt", source="Orphanet:275761"} +xref: icd11.foundation:381622932 {source="MONDO:equivalentTo"} xref: MESH:C531854 {source="MONDO:equivalentTo"} xref: OMIMPS:278000 {source="MONDO:equivalentTo"} xref: Orphanet:275761 {source="MONDO:equivalentTo"} @@ -516739,6 +520390,7 @@ id: MONDO:0800451 name: congenital amegakaryocytic thrombocytopenia subset: rare synonym: "congenital amegakaryocytic thrombocytopenia" EXACT CLINGEN_LABEL [OMIMPS:604498] +xref: icd11.foundation:801723173 {source="MONDO:equivalentTo"} xref: OMIMPS:604498 {source="MONDO:equivalentTo"} is_a: MONDO:0100241 {source="DOID:0090118", source="MESH:C535982", source="MONDO:Redundant"} ! inherited thrombocytopenia relationship: excluded_subClassOf MONDO:0001713 {source="Orphanet:3319", source="https://orcid.org/0000-0001-5208-3432"} ! inherited aplastic anemia @@ -516992,6 +520644,7 @@ id: MONDO:0800478 name: trigeminal trophic syndrome def: "A syndrome characterized by an uncommon and relatively unknown cause of facial ulceration that occurs after damage to the trigeminal nerve. It characteristically involves non-healing facial ulceration(s) with accompanying anesthesia, paresthesia, and dysesthesia along the distribution of a trigeminal dermatome." [PMID:37089852] synonym: "TTS" EXACT ABBREVIATION [PMID:37089852] +xref: icd11.foundation:983392135 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="PMID:37089852"} ! syndromic disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6559" xsd:anyURI @@ -517073,6 +520726,7 @@ subset: gard_rare {source="GARD:17031"} subset: orphanet_rare {source="Orphanet:168486"} subset: rare xref: GARD:17031 {source="Orphanet:168486"} +xref: icd11.foundation:641209188 {source="MONDO:equivalentTo"} xref: Orphanet:168486 {source="MONDO:equivalentTo"} is_a: MONDO:0016295 {source="https://orcid.org/0000-0001-5208-3432"} ! neuronal ceroid lipofuscinosis @@ -517170,6 +520824,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: orphanet_rare {source="Orphanet:617304"} subset: rare xref: GARD:22448 {source="Orphanet:617304"} +xref: icd11.foundation:1017418792 {source="MONDO:equivalentTo"} xref: icd11.foundation:1017418792 {source="MONDO:equivalentTo", source="Orphanet:617304"} xref: Orphanet:617304 {source="MONDO:equivalentTo"} is_a: MONDO:0024575 {source="Orphanet:617304", source="https://orcid.org/0000-0001-5208-3432"} ! pregnancy disorder @@ -517559,6 +521214,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: orphanet_rare {source="Orphanet:623615"} subset: rare xref: GARD:22492 {source="Orphanet:623615"} +xref: icd11.foundation:1254443511 {source="MONDO:equivalentTo"} xref: Orphanet:623615 {source="MONDO:equivalentTo"} is_a: MONDO:0015588 {source="Orphanet:623615", source="https://orcid.org/0000-0001-5208-3432"} ! limbic encephalitis is_a: MONDO:0020640 {source="Orphanet:623615", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune encephalitis @@ -517589,6 +521245,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: orphanet_rare {source="Orphanet:623789"} subset: rare xref: GARD:22496 {source="Orphanet:623789"} +xref: icd11.foundation:256572629 {source="MONDO:equivalentTo"} xref: icd11.foundation:256572629 {source="Orphanet:623789", source="MONDO:equivalentTo"} xref: Orphanet:623789 {source="MONDO:equivalentTo"} is_a: MONDO:0002025 {source="Orphanet:623789", source="https://orcid.org/0000-0001-5208-3432"} ! psychiatric disorder @@ -517702,6 +521359,8 @@ name: breast implant-associated anaplastic large cell lymphoma subset: inferred_rare subset: rare xref: DOID:0070333 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1216213663 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1753191438 {source="MONDO:equivalentTo"} is_a: MONDO:0000430 {source="DOID:0070333"} ! mature T-cell and NK-cell non-Hodgkin lymphoma [Term] @@ -517953,6 +521612,7 @@ id: MONDO:0850230 name: chronic urticaria def: "An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week." [DOID:0080747] xref: DOID:0080747 {source="MONDO:equivalentTo"} +xref: icd11.foundation:901000137 {source="MONDO:equivalentTo"} is_a: MONDO:0005492 {source="DOID:0080747"} ! urticaria [Term] @@ -517960,6 +521620,7 @@ id: MONDO:0850231 name: erythema nodosum def: "A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter." [DOID:0080750] xref: DOID:0080750 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1628519266 {source="MONDO:equivalentTo"} is_a: MONDO:0006591 {source="DOID:0080750"} ! panniculitis [Term] @@ -518089,6 +521750,7 @@ id: MONDO:0850295 name: acquired laryngomalacia def: "A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures." [DOID:0080834] xref: DOID:0080834 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1224426540 {source="MONDO:equivalentTo"} is_a: MONDO:0004382 {source="DOID:0080834"} ! laryngeal disorder relationship: has_characteristic MONDO:0021141 ! acquired @@ -518099,6 +521761,7 @@ def: "An autoimmune disease of skin and connective tissue that is characterized subset: inferred_rare subset: rare xref: DOID:0080841 {source="MONDO:equivalentTo"} +xref: icd11.foundation:445309625 {source="MONDO:equivalentTo"} xref: SCTID:86142006 {source="MONDO:equivalentTo"} is_a: MONDO:0019337 {source="DOID:0080841"} ! autoimmune bullous skin disease @@ -518132,6 +521795,7 @@ def: "A type 1 diabetes mellitus that is characterized by a less intensive autoi subset: inferred_rare subset: rare xref: DOID:0080846 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1918279014 {source="MONDO:equivalentTo"} is_a: MONDO:0005147 {source="DOID:0080846"} ! type 1 diabetes mellitus relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql @@ -518142,6 +521806,7 @@ def: "A malignant astrocytoma that is characterized by the presence of five or m subset: inferred_rare subset: rare xref: DOID:0080854 {source="MONDO:equivalentTo"} +xref: icd11.foundation:371288018 {source="MONDO:equivalentTo"} is_a: MONDO:0021636 {source="DOID:0080854"} ! astrocytic tumor [Term] @@ -518331,6 +521996,7 @@ id: MONDO:0850420 name: acute necrotizing pancreatitis def: "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems." [DOID:0080998] xref: DOID:0080998 {source="MONDO:equivalentTo"} +xref: icd11.foundation:2063881303 {source="MONDO:equivalentTo"} xref: UMLS:C0267941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0006515 {source="DOID:0080998"} ! acute pancreatitis @@ -518400,6 +522066,7 @@ def: "A primary cutaneous T-cell non-Hodgkin lymphoma that is characterized by t subset: inferred_rare subset: rare xref: DOID:0081050 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1300247145 {source="MONDO:equivalentTo"} is_a: MONDO:0000607 {source="DOID:0081050"} ! primary cutaneous T-cell non-Hodgkin lymphoma [Term] @@ -518567,6 +522234,7 @@ def: "A pituitary cancer that is characterized by features of Cushing disease, w subset: inferred_rare subset: rare xref: DOID:0081244 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1363568258 {source="MONDO:equivalentTo"} is_a: MONDO:0002109 {source="DOID:0081244"} ! pituitary cancer is_a: MONDO:0005565 {source="DOID:0081244"} ! blastoma @@ -518608,6 +522276,7 @@ def: "A malignant astrocytoma that is characterized by receptor tyrosine kinase subset: inferred_rare subset: rare xref: DOID:0081278 {source="MONDO:equivalentTo"} +xref: icd11.foundation:41211277 {source="MONDO:equivalentTo"} is_a: MONDO:0021636 {source="DOID:0081278"} ! astrocytic tumor [Term] @@ -518662,6 +522331,7 @@ def: "A posterior pituitary benign neoplasm that is characterized by the presenc subset: inferred_rare subset: rare xref: DOID:0081306 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1913552197 {source="MONDO:equivalentTo"} is_a: MONDO:0003257 {source="DOID:0081306"} ! posterior pituitary gland neoplasm [Term] @@ -521041,6 +524711,7 @@ id: MONDO:0956980 name: vascular parkinsonism def: "A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin." [DOID:0080856] xref: DOID:0080856 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1852145464 {source="MONDO:equivalentTo"} is_a: MONDO:0021095 {source="DOID:0080856"} ! parkinsonian disorder [Term] @@ -521330,6 +525001,7 @@ id: MONDO:0957196 name: diffuse midline glioma, H3 K27M-mutant def: "A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system." [DOID:0080684] xref: DOID:0080684 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1312836652 {source="MONDO:equivalentTo"} is_a: MONDO:0006033 {source="https://orcid.org/0000-0002-4142-7153"} ! diffuse intrinsic pontine glioma relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql @@ -522012,6 +525684,7 @@ id: MONDO:0957452 name: segmental arterial mediolysis subset: orphanet_rare {source="Orphanet:645350"} subset: rare +xref: icd11.foundation:1160127418 {source="MONDO:equivalentTo"} xref: Orphanet:645350 {source="MONDO:equivalentTo"} is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder is_a: MONDO:0005385 {source="https://orcid.org/0000-0002-3458-4839"} ! vascular disorder @@ -522997,6 +526670,7 @@ is_a: MONDO:0001790 {source="Orphanet:645359"} ! spinal cord lipoma id: MONDO:0958076 name: myeloschisis def: "A rare form of spina bifida/open neural tube defect (NTD) chacterized by absence of a cystic component, dysplastic meninges and neural placode exposed through a defect in the posterior vertebral arches (spina bifida) that are contiguous with surrounding skin. The placode is at or below the skin plane and is typically associated with a Chiari II malformation. It is usually isolated or rarely associated with split cord malformation." [Orphanet:645398] +xref: icd11.foundation:1547705800 {source="MONDO:equivalentTo"} xref: Orphanet:645398 {source="MONDO:equivalentTo"} is_a: MONDO:0017062 {source="Orphanet:645398"} ! spina bifida aperta @@ -523009,6 +526683,7 @@ is_a: MONDO:0019950 {source="Orphanet:646098"} ! congenital muscular dystrophy [Term] id: MONDO:0958083 name: conjoined twins +xref: icd11.foundation:1550169484 {source="MONDO:equivalentTo"} xref: Orphanet:647916 {source="MONDO:equivalentTo"} is_a: MONDO:0019755 {source="Orphanet:647916", source="https://orcid.org/0000-0002-4142-7153"} ! developmental defect during embryogenesis @@ -523048,6 +526723,7 @@ is_a: MONDO:0015760 {source="Orphanet:652650"} ! T-cell non-Hodgkin lymphoma [Term] id: MONDO:0958096 name: monomorphic epitheliotropic intestinal T-cell lymphoma +xref: icd11.foundation:824243127 {source="MONDO:equivalentTo"} xref: Orphanet:652658 {source="MONDO:equivalentTo"} is_a: MONDO:0015760 {source="Orphanet:652658"} ! T-cell non-Hodgkin lymphoma @@ -523704,6 +527380,7 @@ subset: mondo_rare {source="https://orcid.org/0000-0001-7697-3026", source="PMID subset: rare synonym: "human pythiosis" EXACT [GARD:0011989] synonym: "pythium insidiosum infection" EXACT [GARD:0011989] +xref: icd11.foundation:1571230529 {source="MONDO:equivalentTo"} xref: MESH:D058968 {source="MONDO:mondoIsNarrowerThanSource"} xref: UMLS:C0276912 {source="MONDO:mondoIsNarrowerThanSource"} is_a: MONDO:0005550 {source="https://orcid.org/0000-0002-5002-8648"} ! infectious disease @@ -535379,6 +539056,7 @@ xref: DOID:2988 {source="MONDO:equivalentTo"} xref: GARD:5824 {source="Orphanet:80"} xref: ICD10CM:D68.61 {source="MONDO:equivalentTo", source="DOID:2988"} xref: icd11.foundation:1173370808 {source="MONDO:equivalentTo", source="Orphanet:80"} +xref: icd11.foundation:1173370808 {source="MONDO:equivalentTo"} xref: ICD9:279.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D016736 {source="MONDO:equivalentTo", source="DOID:2988"} xref: NCIT:C61283 {source="MONDO:equivalentTo", source="DOID:2988"} From 8c75af9cf1ef65cbb5407b7f4f44aec5f7664c39 Mon Sep 17 00:00:00 2001 From: Sabrina Toro Date: Tue, 23 Apr 2024 17:00:52 -0700 Subject: [PATCH 2/3] Proxy merge review (first wave) details here: https://docs.google.com/spreadsheets/d/1-mFEuwnm-WIbCJDUJF85F69UHRxdpqeRuMvgK7jo43c/edit#gid=553130211 --- src/ontology/mondo-edit.obo | 23 ++++++++++------------- 1 file changed, 10 insertions(+), 13 deletions(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 9516bc1857..730606dcdc 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -186969,8 +186969,8 @@ xref: DOID:14695 {source="MONDO:equivalentTo"} xref: GARD:2422 {source="Orphanet:79237"} xref: ICD10CM:E74.2 {source="Orphanet:79237", source="Orphanet:79237/attributed", source="Orphanet:79237/ntbt"} xref: ICD10CM:E74.29 {source="DOID:14695"} -xref: icd11.foundation:1173858031 {source="Orphanet:79237", source="MONDO:equivalentTo"} xref: icd11.foundation:1173858031 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1173858031 {source="Orphanet:79237", source="MONDO:equivalentTo"} xref: MESH:C535999 {source="Orphanet:79237", source="Orphanet:79237/e"} xref: MESH:D005693 {source="DOID:14695"} xref: NCIT:C114767 {source="MONDO:equivalentTo", source="DOID:14695"} @@ -252576,10 +252576,7 @@ def: "OBSOLETE. Dravet syndrome (DS) is a genetic epilepsy of childhood characte comment: This is a distinct class from MONDO:0100079 epileptic encephalopathy, early infantile 6. See https://github.com/monarch-initiative/mondo/issues/745 subset: gard_rare {source="GARD:10430"} subset: ordo_disease {source="Orphanet:33069"} -xref: GARD:10430 {source="MONDO:obsoleteEquivalent", source="Orphanet:33069"} xref: ICD10CM:G40.4 {source="Orphanet:33069/attributed", source="Orphanet:33069/ntbt", source="Orphanet:33069"} -xref: icd11.foundation:1255654700 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:33069"} -xref: Orphanet:33069 {source="MONDO:obsoleteEquivalent", source="OMIM:607208"} is_obsolete: true replaced_by: MONDO:0100135 @@ -281334,8 +281331,8 @@ synonym: "CTEPH" EXACT ABBREVIATION [Orphanet:70591] synonym: "Cteph, Dvt-negative, susceptibility to" RELATED [OMIM:612862] synonym: "pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to" RELATED [OMIM:612862] xref: GARD:13124 {source="Orphanet:70591"} -xref: icd11.foundation:1567490107 {source="Orphanet:70591", source="MONDO:equivalentTo"} xref: icd11.foundation:1567490107 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1567490107 {source="Orphanet:70591", source="MONDO:equivalentTo"} xref: ICD9:415.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10068739 {source="Orphanet:70591", source="Orphanet:70591/e"} @@ -372013,8 +372010,8 @@ xref: DOID:13533 {source="MONDO:equivalentTo"} xref: GARD:4155 {source="Orphanet:2781"} xref: HP:0011002 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q78.2 {source="Orphanet:2781", source="Orphanet:2781/e", source="Orphanet:2781/specific", source="DOID:13533"} -xref: icd11.foundation:1498426606 {source="MONDO:equivalentTo"} xref: icd11.foundation:1498426606 {source="Orphanet:2781", source="MONDO:equivalentTo"} +xref: icd11.foundation:1498426606 {source="MONDO:equivalentTo"} xref: ICD9:756.52 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13533"} xref: MedDRA:10031280 {source="Orphanet:2781", source="Orphanet:2781/e"} xref: MESH:D010022 {source="https://orcid.org/0000-0003-1967-3726", source="Orphanet:2781", source="MONDO:equivalentTo", source="Orphanet:2781/e", source="DOID:13533"} @@ -409360,8 +409357,8 @@ synonym: "supranuclear palsy, progressive" RELATED [GARD:0007471] xref: DOID:678 {source="MONDO:equivalentTo"} xref: GARD:7471 {source="Orphanet:683"} xref: ICD10CM:G23.1 {source="Orphanet:683/e", source="DOID:678", source="Orphanet:683/specific", source="Orphanet:683"} -xref: icd11.foundation:1493396558 {source="MONDO:equivalentTo"} xref: icd11.foundation:1493396558 {source="MONDO:equivalentTo", source="Orphanet:683"} +xref: icd11.foundation:1493396558 {source="MONDO:equivalentTo"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10036813 {source="Orphanet:683/e", source="Orphanet:683"} xref: MESH:D013494 {source="Orphanet:683/e", source="DOID:678", source="MONDO:equivalentTo", source="Orphanet:683"} @@ -412574,7 +412571,6 @@ synonym: "Ward-Romano syndrome" EXACT [OMIM:192500] xref: GARD:16547 {source="Orphanet:768"} xref: GARD:3284 {source="Orphanet:101016"} xref: ICD10CM:I45.8 {source="Orphanet:768/attributed", source="Orphanet:768/ntbt", source="Orphanet:768"} -xref: icd11.foundation:1208831985 {source="Orphanet:101016", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"} xref: MedDRA:10057926 {source="Orphanet:768", source="Orphanet:768/e"} xref: NORD:1675 {source="MONDO:NORD"} xref: OMIMPS:192500 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} @@ -414408,8 +414404,8 @@ xref: ICD10CM:E76.0 {source="Orphanet:79213/specific", source="Orphanet:79213/bt xref: ICD10CM:E76.1 {source="Orphanet:79213/specific", source="Orphanet:79213/btnt", source="Orphanet:79213"} xref: ICD10CM:E76.2 {source="Orphanet:79213/specific", source="Orphanet:79213/btnt", source="Orphanet:79213"} xref: ICD10CM:E76.3 {source="Orphanet:79213/specific", source="DOID:12798", source="Orphanet:79213/btnt", source="Orphanet:79213"} -xref: icd11.foundation:1596128696 {source="MONDO:equivalentTo", source="Orphanet:79213"} xref: icd11.foundation:1596128696 {source="MONDO:equivalentTo"} +xref: icd11.foundation:1596128696 {source="MONDO:equivalentTo", source="Orphanet:79213"} xref: ICD9:277.5 {source="DOID:12798", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10028093 {source="Orphanet:79213/e", source="Orphanet:79213"} xref: MESH:D009083 {source="DOID:12798", source="Orphanet:79213/e", source="MONDO:equivalentTo", source="Orphanet:79213"} @@ -416053,8 +416049,8 @@ synonym: "cavernous lymphatic malformation" EXACT [Orphanet:79489] synonym: "macrocystic lymphangioma" EXACT [Orphanet:79489] xref: GARD:6010 {source="Orphanet:79489"} xref: ICD10CM:D18.1 {source="Orphanet:79489/ntbt", source="Orphanet:79489"} -xref: icd11.foundation:1525487462 {source="MONDO:equivalentTo"} xref: icd11.foundation:1525487462 {source="MONDO:equivalentTo", source="Orphanet:79489"} +xref: icd11.foundation:1525487462 {source="MONDO:equivalentTo"} xref: NCIT:C53316 {source="MONDO:equivalentTo"} xref: Orphanet:79489 {source="MONDO:equivalentTo"} xref: UMLS:C0205828 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:79489"} @@ -420497,8 +420493,8 @@ xref: CSP:0828-0533 {source="DOID:2187"} xref: DOID:2187 {source="MONDO:equivalentTo"} xref: GARD:5791 {source="Orphanet:88661"} xref: ICD10CM:K00.5 {source="DOID:2187", source="Orphanet:88661/ntbt", source="Orphanet:88661/inclusion", source="Orphanet:88661"} -xref: icd11.foundation:1923123066 {source="MONDO:equivalentTo"} xref: icd11.foundation:1923123066 {source="MONDO:equivalentTo", source="Orphanet:88661"} +xref: icd11.foundation:1923123066 {source="MONDO:equivalentTo"} xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D000567 {source="DOID:2187", source="Orphanet:88661/e", source="MONDO:equivalentTo", source="Orphanet:88661"} xref: NORD:765 {source="MONDO:NORD"} @@ -436200,8 +436196,8 @@ synonym: "coloboma of the iris" EXACT [NCIT:C98879] xref: GARD:1434 {source="Orphanet:98944"} xref: HP:0000612 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q13.0 {source="Orphanet:98944", source="Orphanet:98944/specific", source="Orphanet:98944/e"} -xref: icd11.foundation:1552972259 {source="MONDO:equivalentTo"} xref: icd11.foundation:1552972259 {source="MONDO:equivalentTo", source="Orphanet:98944"} +xref: icd11.foundation:1552972259 {source="MONDO:equivalentTo"} xref: MedDRA:10052642 {source="Orphanet:98944", source="Orphanet:98944/e"} xref: NCIT:C98879 {source="MONDO:equivalentTo"} xref: Orphanet:98944 {source="MONDO:equivalentTo"} @@ -487262,7 +487258,6 @@ subset: orphanet_rare {source="Orphanet:519386"} subset: rare xref: GARD:22123 {source="Orphanet:519386"} xref: ICD10CM:Q10.2 {source="Orphanet:519386"} -xref: icd11.foundation:1290880184 {source="MONDO:equivalentTo", source="Orphanet:519386", source="https://orcid.org/0000-0001-5208-3432"} xref: Orphanet:519386 {source="MONDO:equivalentTo"} is_a: MONDO:0020159 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital entropion @@ -507257,10 +507252,12 @@ synonym: "myoclonic epilepsy, severe, of infancy" RELATED [GARD:0010430] synonym: "SME" RELATED ABBREVIATION [GARD:0010430] xref: DOID:0060171 {source="MONDO:equivalentObsolete"} xref: DOID:0080422 {source="MONDO:equivalentTo"} +xref: GARD:10430 {source="MONDO:equivalentTo"} xref: icd11.foundation:1255654700 {source="MONDO:equivalentTo"} xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C116573 {source="MONDO:equivalentTo"} xref: NORD:1061 {source="MONDO:NORD"} +xref: Orphanet:33069 {source="MONDO:equivalentTo"} xref: SCTID:230437002 {source="MONDO:equivalentTo"} xref: UMLS:C0751122 {source="NCIT:C116573", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0100062 {source="https://github.com/monarch-initiative/mondo/issues/745", source="https://orcid.org/0000-0002-6647-5493"} ! developmental and epileptic encephalopathy From 5a6ae15181c2e6b20fc69435d522bbc51b89f5e2 Mon Sep 17 00:00:00 2001 From: Sabrina Toro Date: Wed, 24 Apr 2024 07:44:44 -0700 Subject: [PATCH 3/3] Proxy merge part 2 --- src/ontology/mondo-edit.obo | 21 --------------------- 1 file changed, 21 deletions(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 730606dcdc..270ac6fbb9 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -117779,7 +117779,6 @@ xref: DOID:3319 {source="MONDO:equivalentTo"} xref: EFO:1000334 {source="MONDO:equivalentTo"} xref: GARD:3319 {source="Orphanet:538"} xref: ICD10CM:D48.7 {source="Orphanet:538", source="Orphanet:538/attributed", source="Orphanet:538/ntbt"} -xref: icd11.foundation:902628446 {source="MONDO:equivalentTo", source="Orphanet:538", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:518.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10049459 {source="Orphanet:538", source="Orphanet:538/e"} xref: MESH:D018192 {source="Orphanet:538", source="Orphanet:538/e"} @@ -134948,7 +134947,6 @@ synonym: "aniridia without systemic involvement" RELATED [https://www.ncbi.nlm.n synonym: "nonsyndromic aniridia" EXACT [MONDO:patterns/isolated] xref: GARD:5816 {source="Orphanet:250923"} xref: ICD10CM:Q13.1 {source="Orphanet:250923/attributed", source="Orphanet:250923/ntbt", source="Orphanet:250923"} -xref: icd11.foundation:970699895 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:250923"} xref: OMIMPS:106210 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:250923 {source="OMIM:106210", source="MONDO:equivalentTo"} xref: UMLS:C0003076 {source="Orphanet:250923"} @@ -170353,7 +170351,6 @@ xref: ICD10CM:Q90.0 {source="Orphanet:870/specific", source="Orphanet:870/btnt", xref: ICD10CM:Q90.1 {source="Orphanet:870/specific", source="Orphanet:870/btnt", source="Orphanet:870"} xref: ICD10CM:Q90.2 {source="Orphanet:870/specific", source="Orphanet:870/btnt", source="Orphanet:870"} xref: ICD10CM:Q90.9 {source="Orphanet:870/specific", source="DOID:14250", source="Orphanet:870/btnt", source="Orphanet:870"} -xref: icd11.foundation:1624623908 {source="MONDO:equivalentTo", source="Orphanet:870", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:758.0 {source="EFO:0001064", source="DOID:14250", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10044688 {source="Orphanet:870/e", source="Orphanet:870"} xref: MESH:D004314 {source="EFO:0001064", source="Orphanet:870/e", source="DOID:14250", source="MONDO:equivalentTo", source="Orphanet:870"} @@ -187711,7 +187708,6 @@ synonym: "simple buphthalmos" EXACT [DOID:11211] xref: DOID:11211 {source="MONDO:equivalentTo"} xref: GARD:18224 {source="OMIM:231300"} xref: GARD:2485 {source="Orphanet:98976"} -xref: icd11.foundation:517092878 {source="Orphanet:98976", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} xref: ICD9:743.21 {source="DOID:11211"} xref: NCIT:C148260 {source="MONDO:equivalentTo"} xref: OMIM:231300 {source="MONDO:equivalentTo", source="DOID:11211"} @@ -206957,7 +206953,6 @@ xref: DOID:8538 {source="MONDO:equivalentTo", source="EFO:0005287"} xref: EFO:0005287 {source="MONDO:equivalentTo"} xref: GARD:16765 {source="Orphanet:86900"} xref: ICD10CM:C96.4 {source="Orphanet:86900", source="Orphanet:86900/ntbt"} -xref: icd11.foundation:214592620 {source="MONDO:equivalentTo", source="Orphanet:86900", source="https://orcid.org/0000-0001-5208-3432"} xref: ICD9:200.0 {source="DOID:8538", source="EFO:0005287"} xref: ICD9:200.00 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:200.7 {source="DOID:8538"} @@ -242030,7 +242025,6 @@ xref: ICD10CM:Q69.0 {source="Orphanet:2913/specific", source="Orphanet:2913/btnt xref: ICD10CM:Q69.1 {source="Orphanet:2913/specific", source="Orphanet:2913/btnt"} xref: ICD10CM:Q69.2 {source="Orphanet:2913/specific", source="Orphanet:2913/btnt"} xref: ICD10CM:Q69.9 {source="Orphanet:2913/specific", source="Orphanet:2913/btnt"} -xref: icd11.foundation:1534380955 {source="MONDO:equivalentTo", source="Orphanet:2913", source="https://orcid.org/0000-0001-5208-3432"} xref: MedDRA:10036063 {source="Orphanet:2913/e"} xref: MESH:D017689 {source="Orphanet:2913/e"} xref: Orphanet:2913 {source="OMIM:603596", source="MONDO:equivalentTo"} @@ -331421,7 +331415,6 @@ subset: orphanet_rare {source="Orphanet:103920"} subset: rare xref: GARD:19840 {source="Orphanet:103920"} xref: ICD10CM:K52.3 {source="MONDO:relatedTo", source="Orphanet:103920", source="Orphanet:103920/e"} -xref: icd11.foundation:553916326 {source="Orphanet:103920", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"} xref: Orphanet:103920 {source="MONDO:equivalentTo"} is_a: MONDO:0005265 {source="Orphanet:103920"} ! inflammatory bowel disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015187"} ! rare @@ -340656,7 +340649,6 @@ synonym: "peroneal muscular atrophy" EXACT [DOID:10595, ICD9CM:356.1] xref: DOID:10595 {source="MONDO:equivalentTo"} xref: GARD:6034 {source="Orphanet:166"} xref: ICD10CM:G60.0 {source="Orphanet:166/ntbt", source="Orphanet:166/inclusion", source="DOID:10595", source="Orphanet:166"} -xref: icd11.foundation:1538134578 {source="MONDO:equivalentTo", source="Orphanet:166", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:356.1 {source="DOID:10595"} xref: MedDRA:10034699 {source="Orphanet:166/e", source="Orphanet:166"} xref: MESH:D002607 {source="Orphanet:166/e", source="MONDO:equivalentTo", source="DOID:10595", source="Orphanet:166"} @@ -348584,7 +348576,6 @@ subset: rare synonym: "olfactory neuroblastoma" RELATED [Orphanet:1957] xref: GARD:2197 {source="Orphanet:1957"} xref: ICD10CM:C30.0 {source="Orphanet:1957/ntbt", source="Orphanet:1957"} -xref: icd11.foundation:2007774165 {source="MONDO:equivalentTo", source="Orphanet:1957", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:1957 {source="MONDO:equivalentTo"} xref: SCTID:422886007 {source="MONDO:equivalentTo"} xref: UMLS:C0206717 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1957"} @@ -348927,7 +348918,6 @@ xref: GARD:17091 {source="Orphanet:199302"} xref: ICD10CM:Q36.0 {source="Orphanet:199302", source="Orphanet:199302/btnt"} xref: ICD10CM:Q36.1 {source="Orphanet:199302", source="Orphanet:199302/btnt"} xref: ICD10CM:Q36.9 {source="Orphanet:199302", source="Orphanet:199302/btnt"} -xref: icd11.foundation:172183323 {source="MONDO:equivalentTo", source="Orphanet:199302", source="https://orcid.org/0000-0001-5208-3432"} xref: MedDRA:10009259 {source="Orphanet:199302", source="Orphanet:199302/e"} xref: Orphanet:199302 {source="MONDO:equivalentTo"} xref: UMLS:C0008924 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:199302", source="Orphanet:199302/e"} @@ -375797,7 +375787,6 @@ synonym: "MMPSI" EXACT ABBREVIATION [Orphanet:293181] synonym: "MPEI" EXACT ABBREVIATION [Orphanet:293181] synonym: "MPSI" BROAD ABBREVIATION [Orphanet:293181] xref: GARD:12919 {source="Orphanet:293181"} -xref: icd11.foundation:1727727812 {source="Orphanet:293181", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"} xref: NCIT:C125387 {source="MONDO:equivalentTo"} xref: Orphanet:293181 {source="MONDO:equivalentTo"} xref: UMLS:C3494976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -388676,7 +388665,6 @@ xref: ICD10CM:Q91.4 {source="Orphanet:3378", source="Orphanet:3378/btnt", source xref: ICD10CM:Q91.5 {source="Orphanet:3378", source="Orphanet:3378/btnt", source="Orphanet:3378/specific"} xref: ICD10CM:Q91.6 {source="Orphanet:3378", source="Orphanet:3378/btnt", source="Orphanet:3378/specific"} xref: ICD10CM:Q91.7 {source="DOID:11665", source="Orphanet:3378", source="Orphanet:3378/btnt", source="Orphanet:3378/specific"} -xref: icd11.foundation:1435958084 {source="Orphanet:3378", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:758.1 {source="DOID:11665", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MedDRA:10044686 {source="Orphanet:3378", source="Orphanet:3378/e"} xref: MESH:C536305 {source="DOID:11665", source="MONDO:equivalentTo"} @@ -388776,7 +388764,6 @@ xref: ICD10CM:Q91.0 {source="Orphanet:3380/specific", source="Orphanet:3380/btnt xref: ICD10CM:Q91.1 {source="Orphanet:3380/specific", source="Orphanet:3380/btnt", source="Orphanet:3380"} xref: ICD10CM:Q91.2 {source="Orphanet:3380/specific", source="Orphanet:3380/btnt", source="Orphanet:3380"} xref: ICD10CM:Q91.3 {source="Orphanet:3380/specific", source="Orphanet:3380/btnt", source="Orphanet:3380", source="DOID:1085"} -xref: icd11.foundation:1505179968 {source="MONDO:equivalentTo", source="Orphanet:3380", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:758.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1085"} xref: MedDRA:10053884 {source="Orphanet:3380/e", source="Orphanet:3380"} xref: MESH:C580500 {source="MONDO:equivalentTo", source="DOID:1085"} @@ -407336,7 +407323,6 @@ subset: orphanet_rare {source="Orphanet:60033"} subset: rare xref: GARD:16664 {source="Orphanet:60033"} xref: ICD10CM:J47 {source="Orphanet:60033/attributed", source="Orphanet:60033/ntbt", source="Orphanet:60033"} -xref: icd11.foundation:1935524933 {source="Orphanet:60033", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} xref: Orphanet:60033 {source="MONDO:equivalentTo"} xref: SCTID:233629001 {source="MONDO:equivalentTo"} xref: UMLS:C0339985 {source="Orphanet:60033", source="MONDO:equivalentTo", source="Orphanet:60033/e"} @@ -416711,7 +416697,6 @@ xref: ICD10CM:Q05.6 {source="Orphanet:823/btnt", source="Orphanet:823", source=" xref: ICD10CM:Q05.7 {source="Orphanet:823/btnt", source="Orphanet:823", source="Orphanet:823/specific"} xref: ICD10CM:Q05.8 {source="Orphanet:823/btnt", source="Orphanet:823", source="Orphanet:823/specific"} xref: ICD10CM:Q05.9 {source="Orphanet:823/btnt", source="Orphanet:823", source="Orphanet:823/specific"} -xref: icd11.foundation:2036217905 {source="Orphanet:823", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"} xref: MedDRA:10041524 {source="Orphanet:823", source="Orphanet:823/e"} xref: MESH:D016135 {source="Orphanet:823", source="Orphanet:823/e"} xref: Orphanet:823 {source="MONDO:equivalentTo"} @@ -420996,7 +420981,6 @@ xref: ICD10CM:Q70.2 {source="Orphanet:90025/specific", source="Orphanet:90025/bt xref: ICD10CM:Q70.3 {source="Orphanet:90025/specific", source="Orphanet:90025/btnt"} xref: ICD10CM:Q70.4 {source="Orphanet:90025/specific", source="Orphanet:90025/btnt"} xref: ICD10CM:Q70.9 {source="Orphanet:90025/specific", source="Orphanet:90025/btnt"} -xref: icd11.foundation:1736296640 {source="MONDO:equivalentTo", source="Orphanet:90025", source="https://orcid.org/0000-0001-5208-3432"} xref: MedDRA:10042778 {source="Orphanet:90025/e"} xref: MESH:D013576 {source="Orphanet:90025/e"} xref: NCIT:C87125 {source="MONDO:equivalentTo"} @@ -432516,7 +432500,6 @@ synonym: "idiopathic inflammatory myositis" EXACT [Orphanet:98482] synonym: "IIm" EXACT [NCIT:C116796] synonym: "IMM" EXACT ABBREVIATION [Orphanet:98482] xref: GARD:9128 {source="Orphanet:98482"} -xref: icd11.foundation:464294586 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:98482"} xref: ICD9:359.79 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C116796 xref: Orphanet:98482 {source="MONDO:equivalentTo"} @@ -435635,7 +435618,6 @@ subset: orphanet_rare {source="Orphanet:98843"} subset: rare xref: GARD:19591 {source="Orphanet:98843"} xref: ICD10CM:C81.1 {source="Orphanet:98843", source="Orphanet:98843/e"} -xref: icd11.foundation:1995941600 {source="Orphanet:98843", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} xref: Orphanet:98843 {source="MONDO:equivalentTo"} xref: UMLS:C0152268 {source="Orphanet:98843", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0009348 {source="Orphanet:98843"} ! classic Hodgkin lymphoma @@ -439710,7 +439692,6 @@ synonym: "malignant dysgerminomatous germ cell tumour of the ovary" RELATED OMO: synonym: "malignant ovarian dysgerminoma" EXACT [Orphanet:99912] xref: GARD:19705 {source="Orphanet:99912"} xref: ICD10CM:C56 {source="Orphanet:99912", source="Orphanet:99912/ntbt"} -xref: icd11.foundation:208782658 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:99912"} xref: Orphanet:99912 {source="MONDO:equivalentTo"} xref: UMLS:CN207439 {source="MONDO:equivalentTo"} is_a: MONDO:0018171 {source="Orphanet:99912"} ! malignant germ cell tumor of ovary @@ -486027,7 +486008,6 @@ subset: ordo_disease subset: orphanet_rare {source="Orphanet:519390"} subset: rare xref: GARD:22124 {source="Orphanet:519390"} -xref: icd11.foundation:583527617 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:519390"} xref: Orphanet:519390 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 {source="Orphanet:519390"} ! disease is_a: MONDO:0005328 {source="https://orcid.org/0000-0002-4142-7153"} ! eye disorder @@ -525769,7 +525749,6 @@ id: MONDO:0957464 name: primary cutaneous tuberculosis subset: orphanet_rare {source="Orphanet:645849"} subset: rare -xref: icd11.foundation:625292625 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:645849"} xref: Orphanet:645849 {source="MONDO:equivalentTo"} is_a: MONDO:0021948 {source="https://orcid.org/0000-0001-5208-3432"} ! cutaneous tuberculosis relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql