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Sturge-Weber syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008501

Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies. [ Orphanet:3205 ]

Term info

database cross reference
  • UMLS:C0038505 (Orphanet:3205/e)
  • DOID:0111563 (MONDO:equivalentTo)
  • ICD9:759.6 (MONDO:relatedTo)
  • GARD:0007706 (MONDO:equivalentTo)
  • OMIM:185300 (Orphanet:3205/e)
  • SCTID:19886006 (MONDO:equivalentTo)
  • NCIT:C3391 (MONDO:equivalentTo)
  • UMLS:CN204001 (MONDO:equivalentTo)
  • Orphanet:3205 (OMIM:185300)
  • MedDRA:10057653 (Orphanet:3205/e)
  • MESH:D013341 (Orphanet:3205/e)
  • MedDRA:10042265 (Orphanet:3205/e)
Subsets

gard_rare, ordo_malformation_syndrome

abbreviation
SWS [ Orphanet:3205 MONDO:Lexical OMIM:185300 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

closeMatch

http://identifiers.org/meddra/10042265, http://identifiers.org/meddra/10057653

definition

Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.

exactMatch

https://omim.org/entry/185300, http://identifiers.org/mesh/D013341, http://purl.obolibrary.org/obo/Orphanet_3205, http://purl.obolibrary.org/obo/DOID_0111563, http://linkedlifedata.com/resource/umls/id/C0038505, http://identifiers.org/snomedct/19886006, http://purl.obolibrary.org/obo/NCIT_C3391, http://linkedlifedata.com/resource/umls/id/CN204001

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015501, http://purl.obolibrary.org/obo/MONDO_0015218, http://purl.obolibrary.org/obo/MONDO_0015145, http://purl.obolibrary.org/obo/MONDO_0018719, http://purl.obolibrary.org/obo/MONDO_0015651

has exact synonym

Encephalotrigeminal angiomatosis, Sturge-Weber disease, Sturge-Weber-Krabbe syndrome, Encephalotrigeminal syndrome, Sturge-Weber syndrome, somatic, mosaic, Encephalofacial angiomatosis, Sturge-Weber-Dimitri syndrome, Sturge-Weber-Krabbe angiomatosis, Sturge-Weber syndrome, SWS

has related synonym

SWS type III - isolated leptomeningeal angiomas, STURGE-WEBER syndrome, SWS type I - Facial and leptomeningeal angiomas, SWS type II - Facial angioma alone, no CNS involvement, fourth phacomatosis, Sturge Weber syndrome, leptomeningeal angiomatosis, meningeal capillary angiomatosis

id

MONDO:0008501

seeAlso

https://rarediseases.info.nih.gov/diseases/7706/sturge-weber-syndrome