Hermansky-Pudlak syndrome
ICD-10 Code
E70.331
Hermansky-Pudlak syndrome
Definition
Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.
Also known as HPS — per MONDO