Application Version: 4.0.6.6
Content Version: 2021.03.26
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Code System Update Calendar [PDF161KB]
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Code System Concept
Code System Concept Code | 778004006 |
Code System Concept Name | Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) |
Code System Preferred Concept Name | Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) |
Concept Status | Published |
Concept Status Date | 09/01/2022 |
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Superseded By Concept | |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 | 01/31/2019 |
SDO Date Created | 01/31/2019 |
SDO Date Revised | 01/31/2019 |
Description | A mixed autoinflammatory and autoimmune syndrome disorder with characteristics of recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures. Caused by heterozygous mutation in the PLCG2 gene on chromosome 16q. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3736376014 | Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation | Active | Synonym | false | false |
3736377017 | Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | Active | Synonym | false | false |
3736378010 | APLAID - autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation | Active | Synonym | false | false |
Parent Concepts
No parent concepts present.
|
Other Relationships
No other relationships present.
|
Child Concepts
No child concepts present.
|
Application Version: 4.0.6.6
Content Version: 2021.03.26
Release Notes [PDF278KB]
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: