Preferred Label : Sturge-Weber Syndrome;
NCIt synonyms : Encephalotrigeminal Syndrome; Sturge-Weber Disease;
NCIt related terms : SWS;
NCIt definition : A congenital disorder characterized by the presence of a port-wine nevus birthmark
on one or both sides of the face. Additional clinical manifestations may include seizures,
leptomenigeal angiomas, glaucoma, progressive hemiparesis and cognitive deficits.;
Alternative definition : NCI-GLOSS: A rare, congenital disorder that affects the brain, skin, and eyes. Abnormal
blood vessel growth occurs in the trigeminal nerve in the face and the meninges (covering)
of the brain. This abnormal growth causes red or purple skin discoloration (sometimes
called a port wine stain), usually on one side of the face, and can also cause seizures,
learning disabilities, and glaucoma.;
Codes from synonyms : CDR0000403146; CDR0000304691;
Origin ID : C3391;
UMLS CUI : C0038505;
- Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- False automatic mappings
- Semantic type(s)
- UMLS correspondences (same concept)
- concept_is_in_subset
- disease_has_finding
- disease_mapped_to_gene