hermansky-pudlak syndrome

Preferred Label : hermansky-pudlak syndrome;

Details

Origin ID

D6-A2420;

UMLS CUI

C0079504;

Automatic exact mappings (from CISMeF team)
- Albinism [ICD-10 Sub-category (who)]
- Alpha delta granule deficiency [ORDO Disease]
- Platelet storage pool defect (disorder) [SNOMED CT concept]
- Storage pool disease [PASCAL descriptor]
- platelet storage pool deficiency [MeSH Descriptor]
- platelet storage pool deficiency [MeSH concept]
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 [NCIt concept]
- 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]
ICD-10 exact mapping(s)
- Albinism [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Dense granule disease [ORDO Disease]
- Hypopigmentation of the skin [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
Metaterm(s)
- dermatology [CISMeF Metaterm]
- genetics [CISMeF Metaterm]
- metabolism [CISMeF Metaterm]
- ophthalmology [CISMeF Metaterm]
SNOMED CT concept
- Hermansky-Pudlak syndrome (disorder) [SNOMED CT 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 [NCIt concept]
- 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]

Keyword's position in hierarchy(ies) :

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