Hermansky-Pudlak syndrome

This code represents Hermansky-Pudlak syndrome, a rare, inherited disorder characterized by oculocutaneous albinism, bleeding diathesis due to platelet dysfunction, and often, lysosomal storage defects leading to pulmonary fibrosis or granulomatous colitis. It results from mutations in genes involved in lysosome-related organelle biogenesis.

Use this code when documentation clearly indicates a diagnosis of Hermansky-Pudlak syndrome, confirmed through genetic testing or characteristic clinical findings. This diagnosis is typically made by a geneticist, hematologist, or ophthalmologist based on the triad of albinism, bleeding issues, and potential organ involvement.

• Ensure documentation specifies "Hermansky-Pudlak syndrome" and not just general albinism or bleeding disorder.
• Code any associated manifestations, such as pulmonary fibrosis (J84.10) or granulomatous colitis (K52.3), as secondary diagnoses.
• Genetic testing results confirming the specific gene mutation, if available, strengthen the diagnostic support for this code.