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Achondroplasia - Medical Condition Information

Achondroplasia

Achondroplastic Dwarfism
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📋Overview

Achondroplasia is the most common form of dwarfism caused by a genetic mutation affecting bone growth, leading to disproportionate short stature. It is a well-defined skeletal dysplasia characterized by abnormal cartilage formation and impaired conversion to bone, primarily affecting the long bones. The modern preferred term remains achondroplasia.

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Medical codes (for reference)

UMLS CUI: C0001080
ICD-10-CM
Q77.4
MeSH
D000130C531599
SNOMED CT (US)
86268005

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

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