
Osteogenesis Imperfecta
Brittle Bone DiseaseEkman-Lobstein Disease
📋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.
Medical codes (for reference)
UMLS CUI: C0029434ICD-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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