D61.01

HCC Category Mapping

What This Code Means

A rare inherited condition present from birth where the bone marrow fails to produce red blood cells due to genetic factors.

Coding Tips

• •This code indicates a congenital/inherited condition; document family history and genetic testing results if available
• •Distinguish from acquired forms by confirming the condition's presence from early childhood or infancy

Clinical Significance

Constitutional (pure) red blood cell aplasia, also known as Diamond-Blackfan anemia, is a rare inherited bone marrow failure syndrome characterized by selective failure of red blood cell production presenting in infancy or early childhood. Approximately 25% of patients have associated congenital anomalies including craniofacial defects, upper limb abnormalities (particularly thumb anomalies), cardiac defects, and short stature. The condition is caused by mutations in ribosomal protein genes and carries an increased lifetime risk of myelodysplastic syndrome, acute myeloid leukemia, and solid tumors.

Documentation Requirements

• ✓Document the congenital/inherited nature confirmed by early-childhood onset and genetic testing when available.
• ✓Record hemoglobin levels, reticulocyte count, elevated erythrocyte adenosine deaminase activity (a diagnostic marker), and bone marrow biopsy showing selective erythroid hypoplasia.
• ✓Include any associated congenital anomalies.
• ✓Document treatment approach (corticosteroid therapy, chronic transfusion program, or stem cell transplant considerations) and response.
• ✓Note any family history of the condition.

Commonly Confused Codes