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 |
| 3658499011 | Otulipenia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3658500019 | OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3658501015 | OTULIN (OTU deubiquitinase with linear linkage specificity) related autoinflammatory syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3658502010 | OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3658503017 | OTULIN-related autoinflammatory syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3658504011 | Infantile-onset periodic fever, panniculitis, dermatosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3658516017 | Disease with characteristics of abnormal inflammation throughout the body. The uncontrolled inflammation can damage body tissue and organs, including the gastrointestinal system, joints and skin. Onset is usually within the first few weeks of life with recurring episodes of fever, diarrhoea, painful, swollen joints and skin rash. Lipodystrophy is present in some individuals. Caused by mutation in the OTULIN gene, the protein produced from this gene helps control inflammation. Inherited in an autosomal recessive pattern. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3658517014 | Disease with characteristics of abnormal inflammation throughout the body. The uncontrolled inflammation can damage body tissue and organs, including the gastrointestinal system, joints and skin. Onset is usually within the first few weeks of life with recurring episodes of fever, diarrhea, painful, swollen joints and skin rash. Lipodystrophy is present in some individuals. Caused by mutation in the OTULIN gene, the protein produced from this gene helps control inflammation. Inherited in an autosomal recessive pattern. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4185121000052117 | OTULIN-relaterat autoinflammatoriskt syndrom | sv | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | Finding site | Structure of immune system (body structure) | true | Inferred relationship | Some | 1 | |
| OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | Is a | Congenital disease (disorder) | false | Inferred relationship | Some | ||
| OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | Associated morphology | inflammation | false | Inferred relationship | Some | 1 | |
| OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | Is a | Inflammatory disorder of immune system | false | Inferred relationship | Some | ||
| OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | Is a | Hereditary disorder by system | false | Inferred relationship | Some | ||
| OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | Associated morphology | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | Is a | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
| OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | Is a | Hereditary periodic fever (disorder) | true | Inferred relationship | Some | ||
| OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | Clinical course | Recurrent | true | Inferred relationship | Some | 3 | |
| OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | Interprets | Body temperature (observable entity) | true | Inferred relationship | Some | 2 | |
| OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | Has interpretation | Above reference range | true | Inferred relationship | Some | 2 | |
| OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR