Griscelli syndrome type 2

Preferred Label : Griscelli syndrome type 2;

ICD-11 definition : This type, caused by mutations in RAB27A presents with pigmentary dilution and immunodeficiency;

ICD-11 synonym : Hypopigmentation - immunodeficiency, with or without neurological impairment; GS2 (MIM 607624); Partial albinism and immunodeficiency syndrome; GS2;

Details

Origin ID

1836541365;

UMLS CUI

C1868679;

Automatic exact mappings (from CISMeF team)
- RAB27A wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Griscelli Syndrome Type 2 [NCIt concept]
- Griscelli syndrome type 2 [MeSH concept]
- Griscelli syndrome type 2 [DO Concept]
- Griscelli syndrome type 2 [ORDO Disease]
- Griscelli syndrome, type 2 [OMIM Phenotype]
- griscelli syndrome type 2 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Griscelli Syndrome Type 2 [NCIt concept]
- Griscelli syndrome type 2 [DO Concept]
- Griscelli syndrome type 2 [MeSH concept]
- Griscelli syndrome type 2 [ORDO Disease]
- Griscelli syndrome, type 2 [OMIM Phenotype]
- griscelli syndrome type 2 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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