Hyper-IgM syndrome due to CD40 deficiency

Preferred Label : Hyper-IgM syndrome due to CD40 deficiency;

ICD-11 definition : This is a form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, B cells cannot receive the signal from T cells to switch classes.;

ICD-11 synonym : hyper-IgM syndrome type 3; HIGM3 - [hyper-IgM syndrome type 3];

ICD-11 acronym : HIGM3;

Details

Origin ID

1381161550;

UMLS CUI

C1720957;

Currated CISMeF NLP mapping
- Hyper-IgM immunodeficiency syndrome, type 3 [MeSH concept]
- Hyper-IgM syndrome type 3 [ORDO Disease]
- Immunodeficiency with Hyper-IgM, Type 3 [NCIt concept]
- 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 type 3 [ORDO Disease]
- Immunodeficiency with Hyper-IgM, Type 3 [NCIt concept]
- Immunodeficiency with hyper-igm, type 3 [OMIM Phenotype]
- immunodeficiency with hyper IgM type 3 [DO Concept]
Validated automatic mappings to NTBT
- hyper-IgM immunodeficiency syndrome [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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