Griscelli syndrome type 1

Preferred Label : Griscelli syndrome type 1;

CISMeF synonym : Pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0531762;

UMLS CUI

C1859194;

Currated CISMeF NLP mapping
- Griscelli syndrome type 1 [DO Concept]
- Griscelli syndrome type 1 [ICD-11 More detail]
- Griscelli syndrome type 1 [ORDO Disease]
- Griscelli syndrome, type 1 [OMIM Phenotype]
Related record
- griscelli syndrome type 1 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Griscelli syndrome type 1 [ORDO Disease]
- Griscelli syndrome type 1 [DO Concept]
- Griscelli syndrome, type 1 [OMIM Phenotype]
- Hypopigmentation-immunodeficiency disease type 1 (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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