Sturge-Weber Syndrome

Preferred Label : Sturge-Weber Syndrome;

NCIt synonyms : Encephalotrigeminal Syndrome; Sturge-Weber Disease;

NCIt related terms : SWS;

NCIt definition : A congenital disorder caused by mutation in the GNAQ gene. It is characterized by the presence of a port-wine nevus birthmark on one or both sides of the face. Additional clinical manifestations may include seizures, leptomeningeal 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;

Details

Origin ID

C3391;

UMLS CUI

C0038505;

Automatic exact mappings (from CISMeF team)
- Sturge-Weber syndrome [DO Concept]
- Stuve-wiedemann syndrome 1 [OMIM Phenotype]
- patatin like phospholipase domain containing 6 [ORDO Gene]
Currated CISMeF NLP mapping
- Sturge Weber syndrome [Disease (Nov.)]
- Sturge-Weber syndrome [ACR pathology]
- Sturge-Weber syndrome [ICD-11 More detail]
- Sturge-Weber syndrome [MedDRA Preferred Term]
- Sturge-Weber syndrome [MeSH concept]
- Sturge-Weber syndrome [ORDO Disease]
- Sturge-Weber syndrome (disorder) [SNOMED CT concept]
- Sturge-weber syndrome [OMIM Phenotype]
- encephalotrigeminal angiomatosis [Radlex concept]
- sturge-weber sequence [SNOMED Notion]
- sturge-weber syndrome [MeSH Descriptor]
DO Cross reference
- Sturge-Weber syndrome [DO Concept]
Disease may have findings
- Cognitive Impairment [NCIt concept]
- Hemiparesis [NCIt concept]
- Seizure [NCIt concept]
False automatic mappings
- Sturge-Weber syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Encephalocutaneous angiomatosis [MedDRA Preferred Term]
- Milles' syndrome [MedDRA LLT]
- Parkes Weber syndrome [ORDO Disease]
- Parkes Weber syndrome (disorder) [SNOMED CT concept]
- Parkes weber syndrome [OMIM Phenotype]
- Parkes-Weber syndrome [MedDRA Preferred Term]
- Schirmer's syndrome [MedDRA LLT]
- Sturge Weber syndrome [Disease (Nov.)]
- Sturge-Weber syndrome [ORDO Disease]
- Sturge-Weber syndrome [ACR pathology]
- Sturge-Weber syndrome [DO Concept]
- Sturge-Weber syndrome [MedDRA Preferred Term]
- Sturge-Weber syndrome [MeSH concept]
- Sturge-Weber syndrome (disorder) [SNOMED CT concept]
- Sturge-weber syndrome [OMIM Phenotype]
- encephalotrigeminal angiomatosis [Radlex concept]
- sturge-weber sequence [SNOMED Notion]
- sturge-weber syndrome [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_excludes_molecular_abnormality
- BMPR1A Gene Mutation [NCIt concept]
- PTCH1 Gene Mutation [NCIt concept]
- PTEN Gene Mutation [NCIt concept]
- SMAD4 Gene Mutation [NCIt concept]
- STK11 Gene Mutation [NCIt concept]
disease_has_associated_disease
- Hamartoma [NCIt concept]
- Port Wine Stain [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- GNAQ Gene Mutation [NCIt concept]
disease_mapped_to_gene
- GNAQ Gene [NCIt concept]
disease_may_have_associated_disease
- Glaucoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- GNAQ Gene [NCIt concept]
- GNAQ wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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