loading...| Preferred Name |
Sturge-Weber Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3391 |
| ALT_DEFINITION |
A congenital syndrome characterized by a port-wine nevus covering portions of the face and cranium (in the distribution of the ophthalmic division of the TRIGEMINAL NERVE) and angiomas of the meninges and choroid. Clinical manifestations include the onset of focal SEIZURES, progressive hemiparesis, GLAUCOMA, hemianopsia, and cognitive deficits in the first decade of life. By age two years, skull radiographs reveal "tramline calcifications" of the margins of the occipital and parietal lobes. Pathologically cortical neurons are replaced by glial tissue that undergoes calcification. (From Adams et al., Principles of Neurology, 6th ed, pp1018-9) 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. |
| code |
C3391 |
| Concept_In_Subset | |
| Contributing_Source |
NICHD |
| 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. |
| FULL_SYN |
SWS Encephalotrigeminal Syndrome Sturge-Weber Disease |
| Has_NICHD_Parent | |
| label |
Sturge-Weber Syndrome |
| Legacy_Concept_Name |
Sturge-Weber_Syndrome |
| NICHD_Hierarchy_Term |
Sturge-Weber Syndrome |
| Preferred_Name |
Sturge-Weber Syndrome |
| prefixIRI |
C3391 |
| prefLabel |
Sturge-Weber Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0038505 |
| subClassOf |