albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

Preferred Label : albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells;

MeSH synonym : delta storage pool disease;

Origin ID

C538539;

UMLS CUI

C2931875;

Automatic exact mappings (from CISMeF team)
- Delta storage pool disease [MedDRA LLT]
- Hermansky-Pudlak syndrome [ICD-11 More detail]
- Hermansky-pudlak syndrome 1 [OMIM Phenotype]
- Platelet dense granule deficiency (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- albinism [MeSH Descriptor]
- hemorrhagic disorders [MeSH Descriptor]
- hermanski-pudlak syndrome [MeSH Descriptor]
Record concept(s)
- Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Delta storage pool disease [MedDRA LLT]
- Hermansky-Pudlak Syndrome 1 [NCIt concept]
- Hermansky-Pudlak syndrome 1 [DO Concept]
- Hermansky-pudlak syndrome 1 [OMIM Phenotype]