723386002: Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Mendelian susceptibility to mycobacterial disease\Mendelian susceptibility to mycobacterial disease due to partial STAT1 deficiency
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Mendelian susceptibility to mycobacterial disease due to partial STAT1 deficiency
• \Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Mendelian susceptibility to mycobacterial disease\Mendelian susceptibility to mycobacterial disease due to partial STAT1 deficiency

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3424336018	Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3424337010	Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3424338017	Mendelian susceptibility to mycobacterial disease due to partial STAT1 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3424339013	Mendelian susceptibility to mycobacterial disease due to partial STAT1 (signal transducer and activator of transcription 1) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3424340010	A genetic variant of mendelian susceptibility to mycobacterial disease with characteristics of a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections. The prevalence is unknown. First infections occur after the age of 3. Clinical penetrance is incomplete and some patients are asymptomatic while others have very mild clinical manifestations. Caused by heterozygous mutations in the STAT1 gene on chromosome 2q32.2-q32.3 encoding the signal transducer and activator of transcription 1. Two distinct forms have been described: one affecting phosphorylation and the other impairing DNA-binding activity. Transmission is autosomal dominant.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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