Osteogenesis Imperfecta
Brittle Bone DiseaseEkman-Lobstein Disease
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.
📋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: 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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