Preferred Label : SCID - [Severe combined immunodeficiency] due to DCLRE1C- [DNA cross-link repair 1C]
deficiency;
ICD-11 definition : Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID
characterized by severe and recurrent infections, diarrhea, failure to thrive, and
cell sensitivity to ionizing radiation.;
ICD-11 synonym : SCID - [Severe combined immunodeficiency], Athabaskan type; SCID - [Severe combined immunodeficiency] due to DNA cross-link repair protein 1C
deficiency; Agammaglobulinaemia, alymphocytotic type; SCID , Athabaskan type; Severe combined immunodeficiency [SCID], alymphocytotic type; SCID due to DCLRE1C deficiency; SCID - [Severe combined immunodeficiency] due to Artemis protein deficiency; SCID due to DNA cross-link repair protein 1C deficiency; SCID due to Artemis protein deficiency;
Origin ID : 1242093136;
UMLS CUI : C1865370;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID
characterized by severe and recurrent infections, diarrhea, failure to thrive, and
cell sensitivity to ionizing radiation.
