Autosomal recessive agammaglobulinaemia

Preferred Label : Autosomal recessive agammaglobulinaemia;

ICD-11 definition : Autosomal agammaglobulinemia is a primary immune deficiency characterized by a complete lack of circulating mature B cells, resulting in agammaglobulinemia leading to particular susceptibility to bacterial infections of the respiratory and digestive tracts. Enteroviral meningo-encephalitis is a very severe and not infrequent complication.;

ICD-11 synonym : Autosomal agammaglobulinaemia; Agammaglobulinaemia, non-Bruton type;

ICD-11 inclusion : BLNK - [B-cell linker] deficiency; Lambda5 deficiency; Ig alpha deficiency; Ig beta deficiency;

Details

Origin ID

1395443519;

Currated CISMeF NLP mapping
- Agammaglobulinemia 1, autosomal recessive [OMIM Phenotype]
- Autosomal Recessive Agammaglobulinemia [NCIt concept]
- Autosomal agammaglobulinemia [ORDO Disease]
- agammaglobulinemia, non-Bruton type [MeSH Supplementary Concept]

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