Preferred Label : Autosomal dominant Stat1 deficiency;
ICD-11 definition : Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal
transducer and activator of transcription 1) deficiency is a genetic variant of MSMD
characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to
mild mycobacterial infections.;
ICD-11 synonym : AD STAT1 deficiency; Mendelian susceptibility to mycobacterial diseases due to partial signal transducer
and activator of transcription 1 deficiency; AD STAT1 - [Autosomal dominant Stat1] deficiency;
ICD-11 acronym : AD STAT1;
Origin ID : 2037189455;
UMLS CUI : C4013950;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal
transducer and activator of transcription 1) deficiency is a genetic variant of MSMD
characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to
mild mycobacterial infections.