Immunodeficiency with Hyper-IgM, Type 3

Preferred Label : Immunodeficiency with Hyper-IgM, Type 3;

NCIt synonyms : HIGM3;

NCIt related terms : CD40 deficiency;

NCIt definition : An autosomal recessive subtype of immunodeficiency with hyper-IgM caused by mutation(s) in the CD40 gene, encoding tumor necrosis factor receptor superfamily member 5.;

Details

Origin ID

C176416;

UMLS CUI

C1720957;

Automatic exact mappings (from CISMeF team)
- hyper-IgM immunodeficiency syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- Hyper-IgM immunodeficiency syndrome, type 3 [MeSH concept]
- Hyper-IgM syndrome due to CD40 deficiency [ICD-11 More detail]
- Hyper-IgM syndrome type 3 [ORDO Disease]
- Immunodeficiency with hyper-igm, type 3 [OMIM Phenotype]
- immunodeficiency with hyper IgM type 3 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyper-IgM immunodeficiency syndrome, type 3 [MeSH concept]
- Hyper-IgM syndrome due to CD40 deficiency [ICD-11 More detail]
- Immunodeficiency with hyper-igm, type 3 [OMIM Phenotype]
disease_mapped_to_gene
- CD40 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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