Hyper-IgM syndrome due to uracil N glycosylase

Preferred Label : Hyper-IgM syndrome due to uracil N glycosylase;

ICD-11 definition : This has been characterized in three patients from France and Japan. The symptoms are similar to hyper IgM syndrome type 2, but the AICDA gene is intact.;

ICD-11 synonym : Hyper-IgM syndrome due to UNG - [uracil N glycosylase] deficiency; HIGM5 - [hyper-IgM syndrome type 5]; Hyper-IgM syndrome due to UNG deficiency; hyper-IgM syndrome type 5;

ICD-11 acronym : HIGM5;

Details

Origin ID

492472329;

UMLS CUI

C1720958;

Currated CISMeF NLP mapping
- Hyper-IgM immunodeficiency syndrome, type 5 [MeSH concept]
- Hyper-IgM syndrome type 5 [ORDO Disease]
- Immunodeficiency with hyper-igm, type 5 [OMIM Phenotype]
- immunodeficiency with hyper IgM type 5 [DO Concept]
See also inter- (CISMeF)
- UNG wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyper-IgM immunodeficiency syndrome, type 5 [MeSH concept]
- Hyper-IgM syndrome type 5 [ORDO Disease]
- Immunodeficiency with hyper-igm, type 5 [OMIM Phenotype]
- immunodeficiency with hyper IgM type 5 [DO Concept]
Validated automatic mappings to NTBT
- hyper-IgM immunodeficiency syndrome [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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