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 | 765145001 |
Code System Concept Name | T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency (disorder) |
Code System Preferred Concept Name | T cell negative B cell positive severe combined immunodeficiency due to gamma chain 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Superseded By Concept | |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 | 07/31/2018 |
SDO Date Created | 07/31/2018 |
SDO Date Revised | 07/31/2018 |
Description | A form of severe combined immunodeficiency (SCID) characterised by severe and recurrent infections, associated with diarrhoea and failure to thrive. The disease manifests during the first months of life with severe and often life threatening viral, bacterial or fungal and failure to thrive. Chronic diarrhoea is a frequent finding. Some patients may have skin rashes and abnormalities of liver function. Immunological findings are lymphopenia with the absence of T and NK cells, hypogammaglobulinaemia, and normal or increased B cell count. The disease results from a defect in the IL2RG gene encoding the common gamma chain and transmission is X-linked. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3657185019 | SCIDX1 - severe combined immunodeficiency X-linked | Active | Synonym | false | false |
3657186018 | T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency | Active | Synonym | false | false |
3657188017 | T-B+ severe combined immunodeficiency due to gamma chain 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.
|
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
- Developer's Guide
Downloads
- Page last reviewed:December 5, 2018
- Page last updated:December 5, 2018
- Content source: