Autosomal dominant Stat1 deficiency

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;

Details

Origin ID

2037189455;

UMLS CUI

C4013950;

Currated CISMeF NLP mapping
- Immunodeficiency 31a [OMIM Phenotype]
- Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency (disorder) [SNOMED CT concept]
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency [ORDO Disease]
- immunodeficiency 31A [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency 31a [OMIM Phenotype]
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency [ORDO Disease]

Keyword's position in hierarchy(ies) :

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