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📋Overview
Williams-Beuren syndrome, commonly called Williams syndrome, is a rare genetic disorder caused by a deletion of multiple genes on chromosome 7q11.23. It is characterized by distinctive facial features, cardiovascular abnormalities, developmental delays, and a unique cognitive and personality profile. The term 'Williams-Beuren syndrome' is a legacy eponym; the preferred modern term is Williams syndrome.
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Medical codes (for reference)
UMLS CUI: C0175702ICD-10-CM
Q93.82
MeSH
D018980
SNOMED CT (US)
63247009
Codes are provided for reference and interoperability. They are not a diagnosis.
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