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Osteogenesis Imperfecta - Medical Condition Information

Osteogenesis Imperfecta

Brittle Bone DiseaseEkman-Lobstein Disease
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📋Overview

Osteogenesis Imperfecta (OI) is a genetic disorder characterized by fragile bones that break easily. It is caused primarily by mutations affecting type I collagen, a key protein in bone strength. OI is classified into several types based on severity and clinical features. The term 'Osteogenesis Imperfecta' is the modern and widely accepted name for this condition.

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Medical codes (for reference)

UMLS CUI: C0029434
ICD-10-CM
Q78.0
MeSH
D010013
SNOMED CT (US)
78314001

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

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