Hermansky-Pudlak Syndrome

Preferred Label : Hermansky-Pudlak Syndrome;

NCIt definition : A group of autosomal recessive inherited disorders characterized by albinism, bleeding tendency, and lung disorders such as pulmonary fibrosis.;

Alternative definition : NICHD: A group of autosomal recessive, inherited disorders characterized by albinism, qualitative platelet defect, and lung disorders such as pulmonary fibrosis.;

Details

Origin ID

C37261;

UMLS CUI

C0079504;

Automatic exact mappings (from CISMeF team)
- Albinism [ICD-10 Sub-category (who)]
- Albinism [ICD-10 Sub-category]
Currated CISMeF NLP mapping
- HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 [ORDO Gene]
- Hermanski-Pudlak syndrome [MeSH concept]
- Hermansky Pudlak syndrome [Disease (Nov.)]
- Hermansky-Pudlak syndrome [MedDRA Preferred Term]
- Hermansky-Pudlak syndrome [DO Concept]
- Hermansky-Pudlak syndrome [ICD-11 More detail]
- Hermansky-Pudlak syndrome [ORDO Disease]
- 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]
DO Cross reference
- Hermansky-Pudlak syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hermanski-Pudlak syndrome [MeSH concept]
- Hermansky Pudlak syndrome [Disease (Nov.)]
- Hermansky-Pudlak syndrome [MedDRA Preferred Term]
- Hermansky-Pudlak syndrome [ORDO Disease]
- Hermansky-Pudlak syndrome [DO Concept]
- Hermansky-Pudlak syndrome (disorder) [SNOMED CT concept]
- hermanski-pudlak syndrome [MeSH Descriptor]
- hermansky-pudlak syndrome [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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