Chediak-Higashi syndrome

This code represents Chediak-Higashi syndrome, a rare, autosomal recessive immunodeficiency disorder characterized by partial oculocutaneous albinism, recurrent bacterial infections, and progressive neurological deterioration. It results from a defect in lysosomal trafficking, leading to abnormal granule formation in various cell types.

Use this code for patients diagnosed with Chediak-Higashi syndrome based on clinical presentation and confirmed by genetic testing or characteristic findings on peripheral blood smear (giant lysosomal granules in leukocytes). Documentation should clearly state the diagnosis of Chediak-Higashi syndrome.

• Ensure documentation specifies "Chediak-Higashi syndrome" to differentiate from other albinism types or immunodeficiencies.
• Code any associated manifestations, such as infections (e.g., pneumonia, sepsis) or neurological complications (e.g., neuropathy, ataxia), as secondary diagnoses.
• Do not confuse with other forms of albinism (E70.3xx) unless Chediak-Higashi syndrome is explicitly diagnosed.