Immunodeficiency with Hyper-IgM

Preferred Label : Immunodeficiency with Hyper-IgM;

NCIt definition : A genetically heterogenous group of conditions characterized by decreased levels of IgG, IgA, and IgE, and normal or increased levels of IgM. Patients are at an increased risk of infections and development of malignancies.;

NCI Metathesaurus CUI : CL449043;

Details

Origin ID

C84783;

UMLS CUI

C0272236;

Automatic exact mappings (from CISMeF team)
- Immunodeficiency with hyper-igm [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Hyper IgM syndrome [MedDRA Preferred Term]
- Hyper-IgM immunodeficiency syndrome [MeSH concept]
- Hyperimmunoglobulin M syndrome (disorder) [SNOMED CT concept]
- Hyperimmunoglobulinemia M syndrome [PASCAL descriptor]
- Immunodeficiency with hyper-igm, type 1 [OMIM Phenotype]
- hyper IgM syndrome [Disease (Nov.)]
- hyper IgM syndrome [DO Concept]
- hyper-IgM immunodeficiency syndrome [MeSH Descriptor]
- hyperimmunoglobulin m syndrome [SNOMED Notion]
DO Cross reference
- immunodeficiency with hyper IgM type 3 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyper IgM syndrome [MedDRA Preferred Term]
- Hyper-IgM immunodeficiency syndrome [MeSH 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]
- X-linked hyper IgM syndrome [DO Concept]
- hyper-IgM immunodeficiency syndrome [MeSH Descriptor]
- hyperimmunoglobulin m syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
related_to_genetic_biomarker
- CD40LG Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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