Preferred Label : SCID - [Severe combined immunodeficiency] due to DNA-PKcs deficiency;
ICD-11 definition : Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely
rare type of SCID characterized by the classical signs of SCID (severe and recurrent
infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell
sensitivity to ionizing radiation.;
ICD-11 synonym : SCID - [Severe combined immunodeficiency] due to DNA-PKcs - [DNA-dependent protein
kinase, catalytic subunit] deficiency; SCID due to DNA-PKcs deficiency;
Origin ID : 304311373;
Currated CISMeF NLP mapping
- See also inter- (CISMeF)
Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely
rare type of SCID characterized by the classical signs of SCID (severe and recurrent
infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell
sensitivity to ionizing radiation.
