Application Version: 4.0.6.9
Content Version: 2024.01.20
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Code System Update Calendar [PDF161KB]
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Code System Concept
Code System Concept Code | 723386002 |
Code System Concept Name | Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency (disorder) |
Code System Preferred Concept Name | Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency (disorder) |
Concept Status | Published |
Concept Status Date | 03/01/2024 |
Code System Name | SNOMED-CT |
Concept Details
Code System Code | PH_SNOMED-CT |
Code System OID | 2.16.840.1.113883.6.96 |
HL7 Table 0396 Code | SCT |
Superseded By Concept | |
SDO Concept Status | Active |
SDO Concept Status Date | 07/31/2017 |
SDO Date Created | 07/31/2017 |
SDO Date Revised | 07/31/2017 |
Description | 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. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3424337010 | Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency | Active | Synonym | false | false |
3424338017 | Mendelian susceptibility to mycobacterial disease due to partial STAT1 deficiency | Active | Synonym | false | false |
3424339013 | Mendelian susceptibility to mycobacterial disease due to partial STAT1 (signal transducer and activator of transcription 1) deficiency | Active | Synonym | false | false |
Parent Concepts
No parent concepts present.
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Other Relationships
No other relationships present.
|
Child Concepts
No child concepts present.
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Application Version: 4.0.6.9
Content Version: 2024.01.20
Release Notes [PDF285KB]
User Guide [PDF6.08MB]
Code System Update Calendar [PDF161KB]
Contact Us
Subscribe
Related Links
- PHIN Vocabulary Services
- Quick Links / Mapping Tools
- External Standards Resources
- Message Guides
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- Page last reviewed:December 5, 2018
- Page last updated:December 5, 2018
- Content source: