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📋Overview
Sturge-Weber syndrome is a rare congenital neurocutaneous disorder characterized by a facial capillary malformation (port-wine stain), leptomeningeal vascular malformations, and ocular abnormalities. It is a sporadic condition caused by somatic mutations in the GNAQ gene. The modern preferred term remains Sturge-Weber syndrome, with no widely used alternative names.
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Medical codes (for reference)
UMLS CUI: C0038505ICD-10-CM
Q85.89
MeSH
D013341
SNOMED CT (US)
19886006
Codes are provided for reference and interoperability. They are not a diagnosis.
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