D61.02

HCC Category Mapping

What This Code Means

A rare inherited disorder characterized by bone marrow failure, short stature, and pancreatic insufficiency affecting fat digestion.

Coding Tips

• •This is a specific syndrome; document all associated features (pancreatic dysfunction, skeletal abnormalities, growth retardation) when present
• •Genetic testing confirmation should be noted in the medical record to support this diagnosis

Clinical Significance

Shwachman-Diamond syndrome is a rare autosomal recessive inherited bone marrow failure disorder caused primarily by mutations in the SBDS gene, characterized by the triad of exocrine pancreatic insufficiency, bone marrow failure (typically neutropenia as the predominant cytopenia), and skeletal abnormalities. It is the second most common cause of inherited exocrine pancreatic insufficiency after cystic fibrosis. Patients face significant risks of progression to myelodysplastic syndrome and acute myeloid leukemia, with transformation rates estimated at 15-25% over the lifetime.

Documentation Requirements

• ✓Document genetic testing confirming SBDS mutation or clinical diagnosis based on characteristic features.
• ✓Record evidence of pancreatic insufficiency (low fecal elastase, steatorrhea, fat-soluble vitamin deficiencies).
• ✓Include complete blood count showing cytopenias (especially neutropenia), bone marrow biopsy findings, and skeletal imaging showing metaphyseal chondrodysplasia.
• ✓Document growth parameters and nutritional status.
• ✓Note any evidence of myelodysplastic transformation on bone marrow surveillance.

Commonly Confused Codes