Hyper-IgM syndrome due to CD40 ligand deficiency

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

ICD-11 synonym : Hyper-IgM syndrome due to CD40L deficiency; hyper-IgM syndrome type 1; X-linked hyper-IgM syndrome; HIGM1 - [hyper-IgM syndrome type 1];

ICD-11 acronym : HIGM1;

Détails

Origin ID

259869879;

UMLS CUI

C0398689;

Automatic exact mappings (from CISMeF team)
- CD40 ligand deficiency [DO Concept]
Currated CISMeF NLP mapping
- Hyper-IgM immunodeficiency syndrome, type 1 [MeSH Descriptor]
- Immunodeficiency with Hyper-IgM, X-Linked, Type 1 [NCIt concept]
- Immunodeficiency with hyper-igm, type 1 [OMIM Phenotype]
- X-linked hyper IgM syndrome [DO Concept]
- X-linked hyper-IgM syndrome [ORDO Disease]
- X-linked hyper-immunoglobulin M syndrome (disorder) [SNOMED CT concept]
- X-linked hyperimmunoglobulin M syndrome (finding) [Inactive SNOMED CT concept]
See also inter- (CISMeF)
- CD40 Ligand [NCIt concept]
- CD40 ligand [ORDO Gene]
- CD40LG wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyper-IgM immunodeficiency syndrome, type 1 [MeSH Descriptor]
- Hyper-IgM immunodeficiency syndrome, type 1 [MeSH concept]
- Immunodeficiency with Hyper-IgM, X-Linked, Type 1 [NCIt concept]
- Immunodeficiency with hyper-igm, type 1 [OMIM Phenotype]
- X-linked hyper-IgM syndrome [ORDO Disease]
- X-linked hyper-immunoglobulin M syndrome (disorder) [SNOMED CT concept]
- X-linked hyperimmunoglobulin M syndrome (finding) [Inactive SNOMED CT concept]

Position du mot-clé dans l'(les) arborescence(s) :

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