
Noonan Syndrome
Educational overview only. This page summarizes publicly available health information for general understanding and awareness. It does not provide medical advice, diagnosis, or treatment. For personalized guidance or care decisions, consult a qualified healthcare professional.
๐Overview
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: C0028326ICD-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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