hyper-IgM immunodeficiency syndrome

Preferred Label : hyper-IgM immunodeficiency syndrome;

MeSH definition : A rare inherited immunodeficiency syndrome characterized by normal or elevated serum IMMUNOGLOBULIN M levels with absence of IMMUNOGLOBULIN G; IMMUNOGLOBULIN A; and IMMUNOGLOBULIN E. It results in a profound susceptibility to BACTERIAL INFECTIONS and an increased susceptibility to OPPORTUNISTIC INFECTIONS. Several subtypes of hyper-IgM immunodeficiency syndrome exist depending upon the location of genetic mutation.;

MeSH synonym : hyper igm syndrome; hyper-igm immunodeficiency syndromes; immunodeficiency with hyper-igm syndrome; immunodeficiency with hyper igm syndrome; immunodeficiency syndromes, hyper-igm; hyper-igm syndrome; hyper-igm syndromes; immunodeficiency syndrome, hyper-igm; hyper IgM immunodeficiency syndrome; syndrome, Hyper-IgM immunodeficiency; syndromes, Hyper-IgM immunodeficiency;

MeSH hyponym : Hyper-IgM immunodeficiency syndrome, type 2; Hyper-IgM immunodeficiency syndrome, type 3; Hyper-IgM immunodeficiency syndrome, type 5; Hyper IgM Immunodeficiency Syndrome, Type 5; Hyper-IgM Immunodeficiency Syndrome Type 5; Hyper IgM Immunodeficiency Syndrome Type 5; Immunodeficiency with Hyper-IgM, Type 5; Immunodeficiency with Hyper IgM, Type 5; HIGM5 Syndrome; HIGM5 Syndromes; Hyper-IgM Syndrome 5; Hyper IgM Syndrome 5; Hyper-IgM Syndrome 5s; Hyper IgM Immunodeficiency Syndrome, Type 2; Hyper-IgM Syndrome 2; Hyper IgM Syndrome 2; HIGM2 Syndrome; HIGM2 Syndromes; Hyper-IgM Immunodeficiency Syndrome Type 2; Hyper IgM Immunodeficiency Syndrome Type 2; Immunodeficiency with Hyper-IgM, Type 2; Immunodeficiency with Hyper IgM, Type 2; Hyper IgM Immunodeficiency Syndrome, Type 3; Immunodeficiency with Hyper-IgM, Type 3; Immunodeficiency with Hyper IgM, Type 3; Hyper-IgM Syndrome 3; Hyper IgM Syndrome 3; HIGM3 Syndrome; HIGM3 Syndromes; Hyper-IgM Immunodeficiency Syndrome Type 3; Hyper IgM Immunodeficiency Syndrome Type 3;

Details

Origin ID

D053306;

UMLS CUI

C0272236;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [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]
Automatic exact mappings (from CISMeF team)
- AICDA wt Allele [NCIt concept]
- CD40 ligand [ORDO Gene]
- CD40 ligand [HGNC gene]
- CD40LG wt Allele [NCIt concept]
- Hyper-IgM syndrome type 2 [ORDO Disease]
- Hyper-IgM syndrome type 3 [ORDO Disease]
- Hyper-IgM syndrome type 5 [ORDO Disease]
- Immunodeficiency with Hyper-IgM Type 2 [NCIt concept]
- Immunodeficiency with Hyper-IgM, Type 3 [NCIt concept]
- Immunodeficiency with hyper-igm, type 3 [OMIM Phenotype]
- Immunodeficiency with hyper-igm, type 5 [OMIM Phenotype]
- UNG wt Allele [NCIt concept]
- immunodeficiency with hyper IgM type 3 [DO Concept]
Currated CISMeF NLP mapping
- Hyper IgM syndrome [MedDRA Preferred Term]
- Hyperimmunoglobulin M Syndrome [NCIt concept]
- Hyperimmunoglobulin M syndrome (disorder) [SNOMED CT concept]
- Hyperimmunoglobulinemia M syndrome [PASCAL descriptor]
- Immunodeficiency with Hyper-IgM [NCIt concept]
- Immunodeficiency with hyper-igm, type 1 [OMIM Phenotype]
- hyper IgM syndrome [Disease (Nov.)]
- hyper IgM syndrome [DO Concept]
- hyperimmunoglobulin m syndrome [SNOMED Notion]
DO Cross reference
- X-linked hyper IgM syndrome [DO Concept]
Manual BTNT mappings - CISMeF
- Hyper-IgM syndrome type 4 [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Hyper-IgM syndrome with susceptibility to opportunistic infections [ORDO Disease]
- Immunodeficiency predominantly affecting antibody production [ORDO Disease]
Record concept(s)
- Hyper-IgM immunodeficiency syndrome [MeSH concept]
- Hyper-IgM immunodeficiency syndrome, type 2 [MeSH concept]
- Hyper-IgM immunodeficiency syndrome, type 3 [MeSH concept]
- Hyper-IgM immunodeficiency syndrome, type 5 [MeSH concept]
Related MeSH Supplementary Concept(s)
- immunodeficiency with Hyper-Igm, type 4 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyper IgM syndrome [MedDRA Preferred Term]
- Hyperimmunoglobulin M Syndrome [NCIt concept]
- Hyperimmunoglobulin M syndrome (disorder) [SNOMED CT concept]
- Hyperimmunoglobulinemia M syndrome [PASCAL descriptor]
- Immunodeficiencies with severe reduction in serum IgG or IgA with normal or elevated IgM and normal numbers of B-cells [ICD-11 Sub-sub category]
- Immunodeficiency with Hyper-IgM [NCIt concept]
- X-linked hyper IgM syndrome [DO Concept]
- hyperimmunoglobulin m syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Activation-induced cytidine deaminase deficiency [ICD-11 More detail]
- Hyper-IgM syndrome due to CD40 deficiency [ICD-11 More detail]
- Hyper-IgM syndrome due to uracil N glycosylase [ICD-11 More detail]
- Immunodeficiency with hyper-igm, type 2 [OMIM Phenotype]
- immunodeficiency with hyper IgM type 5 [DO Concept]
- immunodeficiency with hyper-IgM type 2 [DO Concept]

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