Hyperimmunoglobulin M Syndrome

Preferred Label : Hyperimmunoglobulin M Syndrome;

NCIt synonyms : Hyper IgM Syndrome; Hyper IgM;

NCIt definition : An immunodeficiency state characterized by very low serum IgG and IgA but either a normal or, more frequently, a markedly elevated concentration of polyclonal IgM.;

Details

Origin ID

C3990;

UMLS CUI

C0272236;

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]
- 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, type 1 [OMIM Phenotype]
- X-linked hyper IgM syndrome [DO Concept]
- hyper IgM syndrome [Disease (Nov.)]
- hyper IgM syndrome [DO Concept]
- hyper-IgM immunodeficiency syndrome [MeSH Descriptor]
- hyperimmunoglobulin m syndrome [SNOMED Notion]
DO Cross reference
- X-linked hyper IgM syndrome [DO Concept]
- hyper IgM syndrome [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
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
disease_has_associated_gene
- CD40LG Gene [NCIt concept]
- CD40LG wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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