Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3686417013 | Yao syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3686418015 | Nucleotide binding oligomerization domain containing 2-associated autoinflammatory disease (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3686419011 | NOD2-associated autoinflammatory disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3686420017 | Nucleotide binding oligomerization domain containing 2-associated autoinflammatory disease | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3686421018 | NOD2 (nucleotide binding oligomerization domain containing 2) associated autoinflammatory disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3686431013 | 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4081101000172111 | NOD2-geassocieerde auto-inflammatoire ziekte | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
| 4081111000172114 | nucleotidebindend oligomerisatiedomein bevattend eiwit 2-geassocieerde auto-inflammatoire aandoening | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Yao syndrome | Clinical course | Chronic | true | Inferred relationship | Some | 2 | |
| Yao syndrome | Is a | Chronic inflammatory disorder | true | Inferred relationship | Some | ||
| Yao syndrome | Associated morphology | Chronic inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Yao syndrome | Is a | Chronic disease of immune function (disorder) | true | Inferred relationship | Some | ||
| Yao syndrome | Is a | Chronic disease of immune structure (disorder) | true | Inferred relationship | Some | ||
| Yao syndrome | Is a | Autoinflammatory disease (disorder) | true | Inferred relationship | Some | ||
| Yao syndrome | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 | |
| Yao syndrome | Finding site | Structure of immune system (body structure) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Belgian subset for rheumatology in patient health records
FHIR