griscelli syndrome type 2

Preferred Label : griscelli syndrome type 2;

MeSH synonym : griscelli syndrome with hemophagocytic syndrome; partial albinism and immunodeficiency; albinism, partial with immunodeficiency; partial albinism and immunodeficiency syndrome; griscelli syndrome, type 2;

Details

Origin ID

C537302;

UMLS CUI

C1868679;

Automatic exact mappings (from CISMeF team)
- Hypopigmentation-immunodeficiency disease (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Griscelli Syndrome Type 2 [NCIt concept]
- Griscelli syndrome type 2 [DO Concept]
- Griscelli syndrome type 2 [ICD-11 More detail]
- Griscelli syndrome type 2 [ORDO Disease]
- Griscelli syndrome, type 2 [OMIM Phenotype]
DO Cross reference
- Griscelli syndrome type 2 [DO Concept]
MeSH term(s) associated for indexing
- Primary Immunodeficiency Diseases [MeSH Descriptor]
- immunologic deficiency syndromes [MeSH Descriptor]
- lymphohistiocytosis, hemophagocytic [MeSH Descriptor]
- piebaldism [MeSH Descriptor]
ORDO relation(s)
- Griscelli syndrome type 2 [ORDO Disease]
Record concept(s)
- Griscelli syndrome type 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Griscelli Syndrome Type 2 [NCIt concept]
- Griscelli syndrome type 2 [ORDO Disease]
- Griscelli syndrome type 2 [DO Concept]
- Griscelli syndrome type 2 [ICD-11 More detail]
- Griscelli syndrome, type 2 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Griscelli syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients