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📋Overview
Prader-Willi syndrome (PWS) is a rare genetic disorder caused by loss of function of specific genes on chromosome 15, typically due to paternal deletion, maternal uniparental disomy, or imprinting defects. It is characterized by hypotonia, developmental delays, hyperphagia leading to obesity, endocrine abnormalities, and behavioral challenges. PWS is the modern preferred term; no widely used synonyms exist.
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Medical codes (for reference)
UMLS CUI: C0032897ICD-10-CM
Q87.11
MeSH
D011218
SNOMED CT (US)
89392001
Codes are provided for reference and interoperability. They are not a diagnosis.
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