Hermansky-Pudlak syndrome with neutropaenia

Preferred Label : Hermansky-Pudlak syndrome with neutropaenia;

ICD-11 definition : HPS type 2, which is due to mutations in AP3B1 gene and presents with neutropenia as well as the other characteristic features of HPS.;

ICD-11 synonym : HPS 2 - [Hermansky-Pudlak syndrome type 2] (MIM 608233); Hermansky-Pudlak syndrome type 2; HPS 2 - [Hermansky-Pudlak syndrome type 2];

ICD-11 acronym : HPS 2;

Details

Origin ID

1415110774;

UMLS CUI

C1842362;

Currated CISMeF NLP mapping
- Hermansky Pudlak syndrome 2 [MeSH concept]
- Hermansky-Pudlak Syndrome 2 [NCIt concept]
- Hermansky-Pudlak syndrome 2 [DO Concept]
- Hermansky-Pudlak syndrome due to AP-3 deficiency [ORDO Disease]
- Hermansky-pudlak syndrome 2 [OMIM Phenotype]
- hermansky pudlak syndrome 2 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hermansky Pudlak syndrome 2 [MeSH concept]
- Hermansky-Pudlak Syndrome 2 [NCIt concept]
- Hermansky-Pudlak syndrome 2 [DO Concept]
- Hermansky-Pudlak syndrome due to AP-3 deficiency [ORDO Disease]
- Hermansky-pudlak syndrome 2 [OMIM Phenotype]
- hermansky pudlak syndrome 2 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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