Autosomal Recessive Agammaglobulinemia

Preferred Label : Autosomal Recessive Agammaglobulinemia;

NCIt related terms : Autosomal Recessive Agammaglobulinemia (AR Agammaglobulinemia);

NCIt definition : A genetically heterogenous group of primary immunodeficiencies characterized by low or absent circulating antibodies/or and low or absent B-cells.;

Details

Origin ID

C176822;

UMLS CUI

C0865214;

Currated CISMeF NLP mapping
- Autosomal recessive agammaglobulinaemia [ICD-11 More detail]
- agammaglobulinemia, non-Bruton type [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to BTNT
- Agammaglobulinemia 1, autosomal recessive [OMIM Phenotype]
disease_has_primary_anatomic_site
- Immune System [NCIt concept]

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