Short answer · Medically reviewed summary · Last updated: 2026-05-08
Osteopetrosis is classified under the ICD-10 code Q78.2 and the ICD-9 code 756.52. These diagnostic codes are used globally by healthcare systems to identify and track cases of this rare condition characterized by abnormally dense bones. What is the clinical classification of Osteopetrosis? Osteopetrosis, often referred to as "marble bone disease," is a rare genetic disorder where bone resorption is impaired, leading to increased bone density and skeletal fragility.
3 people with Osteopetrosis have shared their first-person experience on this question at DiseaseMaps.
ICD10 code of Osteopetrosis and ICD9 code
ICD-10 and ICD-9 codes for Osteopetrosis, with classification details for clinicians, coders and patients.
Osteopetrosis is classified under the ICD-10 code Q78.2 and the ICD-9 code 756.52. These diagnostic codes are used globally by healthcare systems to identify and track cases of this rare condition characterized by abnormally dense bones.
What is the clinical classification of Osteopetrosis?
Osteopetrosis, often referred to as "marble bone disease," is a rare genetic disorder where bone resorption is impaired, leading to increased bone density and skeletal fragility. Because Osteopetrosis manifests in different forms—ranging from the severe infantile malignant type to the milder adult-onset autosomal dominant form—the ICD codes provide a universal framework for medical billing and epidemiological tracking. Understanding that Osteopetrosis is a spectrum helps clinicians determine the appropriate monitoring and intervention strategies for each patient.
How does the classification impact medical care?
Having accurate diagnostic coding for Osteopetrosis is essential for accessing specialized care and insurance coverage. At DiseaseMaps.org, we have seen 43 members join our community to share their experiences, highlighting the diverse ways this condition impacts daily life. Proper coding helps ensure that patients with Osteopetrosis receive coordinated care from a multidisciplinary team.
What are the primary clinical features of Osteopetrosis?
While the ICD codes (Q78.2 and 756.52) categorize the disease, the clinical presentation is highly variable. Common features include:
- Increased skeletal density leading to frequent, non-traumatic fractures.
- Bone marrow failure, which may cause anemia or thrombocytopenia.
- Cranial nerve compression due to narrowed foramina, potentially affecting vision or hearing.
- Delayed tooth eruption or osteomyelitis of the jaw.
Next steps
- Consult with a medical geneticist or a metabolic bone specialist to confirm your diagnosis and subtype.
- Request that your healthcare provider uses the correct ICD-10 code (Q78.2) for all medical records and insurance claims.
- Connect with the 43 members in the Osteopetrosis community on DiseaseMaps.org to share insights and find emotional support.
- Monitor for early warning signs like persistent bone pain or vision changes, and report them to your specialist immediately.
Medical disclaimer: This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the advice of your physician regarding a medical condition.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Osteopetrosis.
- Orphanet: Rare Disease Database (ORPHA:654).
- OMIM (Online Mendelian Inheritance in Man): Osteopetrosis (Entry #166600).
- ICD-10 Data: Q78.2 Osteopetrosis.
Posted Jul 26, 2017 by Chuck 2001
ICD1-10-CM Osteopetrosis Diagnosis Code is. Q78.2.
Posted Sep 9, 2017 by lorirdavis 1452
Posted Sep 28, 2017 by Mary 2550
