hermanski-pudlak syndrome

Preferred Label : hermanski-pudlak syndrome;

MeSH definition : Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.;

MeSH synonym : hermansky pudlak syndrome; hermansky-pudlak syndrome; hermanski pudlak syndrome;

CISMeF synonym : Hermanski-Pudlak; hermanski-pudlak's syndrome;

CISMeF acronym : HPS;

Wikipedia link : https://en.wikipedia.org/wiki/Hermanski-pudlak syndrome;

Details

Origin ID

D022861;

UMLS CUI

C0079504;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 [ORDO Gene]
- 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]
- hermansky-pudlak syndrome [SNOMED Notion]
DO Cross reference
- Hermansky-Pudlak syndrome [DO Concept]
Indexing information
- AP3B1 protein, human [MeSH Supplementary Concept]
- HPS4 protein, human [MeSH Supplementary Concept]
- ruby-eye 2 protein, mouse [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Dense granule disease [ORDO Disease]
- Hypopigmentation of the skin [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
Record concept(s)
- Hermanski-Pudlak syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- Kotzot-Richter syndrome [MeSH Supplementary Concept]
- albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MeSH Supplementary Concept]
- hermansky pudlak syndrome 2 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same 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]
- hermansky-pudlak syndrome [SNOMED Notion]

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