Wiskott-Aldrich syndrome

This code identifies a rare, X-linked primary immunodeficiency characterized by eczema, thrombocytopenia with small platelets, and recurrent infections. Patients typically present with bleeding diathesis, recurrent bacterial and viral infections, and an increased risk of autoimmune disorders and malignancies.

Assign this code for patients diagnosed with Wiskott-Aldrich syndrome based on clinical presentation, laboratory findings (e.g., small platelets, immunodeficiency), and genetic testing confirming mutations in the WAS gene. Documentation should clearly state the diagnosis of Wiskott-Aldrich syndrome.

• Ensure documentation specifies the diagnosis of Wiskott-Aldrich syndrome, not just its individual symptoms.
• Code any associated manifestations, such as eczema (L20.-), thrombocytopenia (D69.49), or recurrent infections, as secondary diagnoses.
• Consider genetic testing results when available to support the diagnosis, though clinical diagnosis is often sufficient for coding.