Application Version: 4.0.6.10
Content Version: 2024.07.12
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Code System Concept
Code System Concept Code | 768667002 |
Code System Concept Name | Nucleotide binding oligomerization domain containing 2-associated autoinflammatory disease (disorder) |
Code System Preferred Concept Name | Nucleotide binding oligomerization domain containing 2-associated autoinflammatory disease (disorder) |
Concept Status | Published |
Concept Status Date | 09/01/2024 |
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Superseded By Concept | |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 chronic autoinflammatory disease in which innate immune response is activated abnormally causing fever and inflammation-related damage to tissues and organs. The episodes can last for several days and occur weeks to months apart, manifestations include erythematous plaques on the skin, abdominal pain, dry eyes, dry mouth, mouth sores, chest pain and gland enlargement. This condition likely results from a combination of genetic and environmental factors. Variations in the NOD2 gene increase risk and it is suspected that environmental factors such as infections may also play a role in triggering the disease in people with genetic variants that increase their risk. The syndrome appears to be a complex disease without a single genetic cause. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3686417013 | Yao syndrome | Active | Synonym | false | false |
3686419011 | NOD2-associated autoinflammatory disease | Active | Synonym | false | false |
3686420017 | Nucleotide binding oligomerization domain containing 2-associated autoinflammatory disease | Active | Synonym | false | false |
3686421018 | NOD2 (nucleotide binding oligomerization domain containing 2) associated autoinflammatory disease | Active | Synonym | false | false |
Parent Concepts
Parent Concepts
Parent/Child (Relationship Type)
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Other Relationships
No other relationships present.
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Child Concepts
No child concepts present.
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- Page last reviewed:June 20, 2024
- Page last updated:June 20, 2024
- Content source: