Osteopetrosis

This code represents osteopetrosis, a rare, inherited disorder characterized by abnormally dense bones due to defective osteoclast function. This leads to impaired bone resorption, resulting in brittle bones prone to fracture, narrowing of bone marrow cavities, and potential neurological complications from cranial nerve compression.

Use this code for patients diagnosed with any form of osteopetrosis, including autosomal dominant (Albers-Schönberg disease), autosomal recessive (malignant infantile osteopetrosis), or intermediate forms. Documentation should clearly state the diagnosis of osteopetrosis, often supported by imaging studies showing increased bone density and clinical findings consistent with the condition.

• Do not confuse with osteosclerosis (M85.8), which is a general term for bone hardening and not specific to osteopetrosis.
• Code any associated fractures (e.g., M84.4x-) or neurological complications (e.g., G52.x for cranial nerve disorders) separately.
• Be mindful of sequencing; osteopetrosis is typically the primary diagnosis when it is the reason for the encounter.