Preferred Label : Ataxia-telangiectasia;
ICD-11 definition : Ataxia-Telangiectasia (A-T) is a DNA repair disorder defined by the association of
severe combined immunodeficiency (affecting mainly the humoral immune response) with
progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias,
increased susceptibility to infections and increased risk of cancer.;
ICD-11 synonym : Louis-Bar syndrome;
Origin ID : 2129036552;
UMLS CUI : C0004135;
Currated CISMeF NLP mapping
- Semantic type(s)
Ataxia-Telangiectasia (A-T) is a DNA repair disorder defined by the association of
severe combined immunodeficiency (affecting mainly the humoral immune response) with
progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias,
increased susceptibility to infections and increased risk of cancer.
