Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 1787885011 | Hyper-IgD periodic fever syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 1787886012 | HIDS - hyper-IgD periodic fever syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 2969342012 | Hyper-immunoglobulin D periodic fever syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5238557012 | Hyperimmunoglobulinemia D with periodic fever (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5238558019 | Hyperimmunoglobulinemia D with periodic fever | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5238559010 | Hyperimmunoglobulinaemia D with periodic fever | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5238563015 | Periodic fever Dutch type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5238560017 | A rare autoinflammatory disease and form of mevalonate kinase deficiency (MKD), characterised by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhoea, arthralgia and skin manifestations). The disease usually begins in the first year of life and rarely after 5 years of age. HIDS is an inherited syndrome caused by mutations in the mevalonate kinase (MVK) gene (12q24). These MVK mutations lead to reduced, but not abolished enzyme activity. This in turn leads to impaired control of the production of inflammatory mediators, which in turn cause inflammatory (fever) attacks. The disease follows an autosomal recessive pattern of inheritance. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5238561018 | A rare autoinflammatory disease and form of mevalonate kinase deficiency (MKD), characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgia and skin manifestations). The disease usually begins in the first year of life and rarely after 5 years of age. HIDS is an inherited syndrome caused by mutations in the mevalonate kinase (MVK) gene (12q24). These MVK mutations lead to reduced, but not abolished enzyme activity. This in turn leads to impaired control of the production of inflammatory mediators, which in turn cause inflammatory (fever) attacks. The disease follows an autosomal recessive pattern of inheritance. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hyperimmunoglobulinemia D with periodic fever (disorder) | Is a | Hereditary periodic fever (disorder) | true | Inferred relationship | Some | ||
| Hyperimmunoglobulinemia D with periodic fever (disorder) | Associated morphology | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Hyperimmunoglobulinemia D with periodic fever (disorder) | Clinical course | Recurrent | true | Inferred relationship | Some | 2 | |
| Hyperimmunoglobulinemia D with periodic fever (disorder) | Associated with | Fever (finding) | false | Inferred relationship | Some | 3 | |
| Hyperimmunoglobulinemia D with periodic fever (disorder) | Interprets | Body temperature (observable entity) | true | Inferred relationship | Some | 3 | |
| Hyperimmunoglobulinemia D with periodic fever (disorder) | Has interpretation | Above reference range | true | Inferred relationship | Some | 3 | |
| Hyperimmunoglobulinemia D with periodic fever (disorder) | Finding site | Structure of immune system (body structure) | true | Inferred relationship | Some | 1 | |
| Hyperimmunoglobulinemia D with periodic fever (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 | |
| Hyperimmunoglobulinemia D with periodic fever (disorder) | Is a | Deficiency of mevalonate kinase | true | Inferred relationship | Some | ||
| Hyperimmunoglobulinemia D with periodic fever (disorder) | Is a | Disorder of lipid metabolism | true | Inferred relationship | Some | ||
| Hyperimmunoglobulinemia D with periodic fever (disorder) | Is a | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
| Hyperimmunoglobulinemia D with periodic fever (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR