E70.330

HCC Category Mapping

What This Code Means

Chediak-Higashi syndrome is a rare inherited disorder affecting immune cells and pigmentation, causing recurrent infections and abnormal bleeding due to defective white blood cells.

Coding Tips

• •This is a specific diagnosis code; do not use the unspecified code E70.339 if Chediak-Higashi syndrome is documented
• •Often associated with immunodeficiency and hematologic complications; review documentation for related conditions to code comprehensively

Clinical Significance

Chediak-Higashi syndrome is a rare autosomal recessive disorder caused by mutations in the LYST gene, affecting melanin production and immune cell function simultaneously. Patients present with partial oculocutaneous albinism, recurrent pyogenic infections due to defective neutrophil and natural killer cell function, a bleeding tendency from platelet storage pool deficiency, and progressive neurological deterioration. The accelerated phase (hemophagocytic lymphohistiocytosis) is frequently fatal without bone marrow transplantation.

Documentation Requirements

• ✓Documentation must include the confirmed diagnosis through genetic testing or characteristic giant granules on peripheral blood smear, clinical manifestations including infections, bleeding episodes, and neurological symptoms, immunologic workup results, and current treatment status.
• ✓If the patient has undergone or is being evaluated for bone marrow transplantation, this should be documented.
• ✓Infection history and prophylactic antibiotic regimen should be noted.

Commonly Confused Codes