Hermansky-Pudlak syndrome

Preferred Label : Hermansky-Pudlak syndrome;

ICD-11 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.;

ICD-11 synonym : Albinism with haemorrhagic diathesis and pigmented reticuloendothelial cells; HPS - [Hermansky-Pudlak syndrome];

ICD-11 acronym : HPS;

Details

Origin ID

2089801290;

Automatic exact mappings (from CISMeF team)
- Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MeSH concept]
- albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MeSH Supplementary Concept]
- hantavirus infections [MedlinePlus Topic]
- hantavirus infections [MeSH Descriptor]
- hantavirus pulmonary syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- Hermanski-Pudlak syndrome [MeSH concept]
- Hermansky Pudlak syndrome [Disease (Nov.)]
- Hermansky-Pudlak Syndrome [NCIt concept]
- Hermansky-Pudlak syndrome [ORDO Disease]
- Hermansky-Pudlak syndrome [DO Concept]
- Hermansky-Pudlak syndrome [MedDRA Preferred Term]
- Hermansky-Pudlak syndrome (disorder) [SNOMED CT concept]
- Hermansky-Pudlak syndrome 1 [DO Concept]
- Hermansky-pudlak syndrome [OMIM phenotypic series]
- Hermansky-pudlak syndrome 1 [OMIM Phenotype]
- hermanski-pudlak syndrome [MeSH Descriptor]
- hermansky-pudlak syndrome [SNOMED Notion]
See also inter- (CISMeF)
- HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 [ORDO Gene]

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