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Noonan Syndrome - Medical Condition Information

Noonan Syndrome

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📋Overview

Noonan syndrome is a genetic multisystem disorder characterized by distinctive facial features, congenital heart defects, short stature, and variable developmental delays. It is caused by mutations affecting the RAS/MAPK signaling pathway. The term 'Noonan syndrome' is the preferred modern designation.

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Medical codes (for reference)

UMLS CUI: C0028326
ICD-10-CM
Q87.19
MeSH
D009634
SNOMED CT (US)
205824006205684007

Codes are provided for reference and interoperability. They are not a diagnosis.

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