Hyper-IgM immunodeficiency syndrome, type 1

Preferred Label : Hyper-IgM immunodeficiency syndrome, type 1;

MeSH definition : An X-linked hyper-IgM immunodeficiency subtype resulting from mutation in the gene encoding CD40 LIGAND.;

MeSH synonym : hyper igm syndrome 1; immunodeficiency, x-linked hyper-igm; x-linked hyper-igm immunodeficiencies; hyper igm immunodeficiency, x linked; x-linked hyper-igm immunodeficiency; hyper-igm syndrome 1; higm1 syndrome; higm1 syndromes; hyper-igm immunodeficiency, x-linked; hyper-igm immunodeficiencies, x-linked; immunodeficiencies, x-linked hyper-igm; hyper IgM immunodeficiency syndrome, type 1; immunodeficiency with Hyper-IgM, type 1; immunodeficiency with hyper IgM, type 1; X-Linked hyper IgM syndrome; X linked hyper IgM syndrome; HIGM1;

CISMeF synonym : syndrome 1, hyper-igm; syndrome, higm1; syndromes, higm1;

Details

Origin ID

D053307;

UMLS CUI

C0398689;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
CISMeF manual mappings
- X-linked hyperimmunoglobulin M syndrome (finding) [Inactive SNOMED CT concept]
Currated CISMeF NLP mapping
- Hyper-IgM syndrome due to CD40 ligand deficiency [ICD-11 More detail]
- 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]
Record concept(s)
- Hyper-IgM immunodeficiency syndrome, type 1 [MeSH concept]
Related MeSH Supplementary Concept(s)
- Hyper-IgM immunodeficiency, X-Linked, with ectodermal dysplasia, hypohidrotic [MeSH Supplementary Concept]
See also inter- (CISMeF)
- CD40 Ligand [NCIt concept]
- Hyper-IgM syndrome with susceptibility to opportunistic infections [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyper-IgM syndrome due to CD40 ligand deficiency [ICD-11 More detail]
- 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]

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