Williams syndrome
ICD-10 Code
Q93.82
Williams syndrome
Definition
A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)
Also known as deletion 7q11.23, monosomy 7q11.23, Williams syndrome, Williams-Beuren syndrome, Williams-Beuren syndrome (WBS) — per MONDO