Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4697302013 | Periodic fever, infantile enterocolitis, autoinflammatory syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4697303015 | Periodic fever, infantile enterocolitis, autoinflammatory syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4697304014 | NLRC4-related infantile enterocolitis, autoinflammatory syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4697305010 | NLRC4-related macrophage activation syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4697306011 | NLRC4-related autoinflammatory syndrome with macrophage activation syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 13557691000146118 | syndroom van periodieke koorts, infantiele enterocolitis en auto-inflammatie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13557701000146118 | syndroom van periodieke koorts, infantiele enterocolitis en auto-inflammatie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13557711000146116 | NLRC4-gerelateerd MAS | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13557721000146114 | NLRC4-gerelateerd auto-inflammatoir syndroom met macrofaagactivatiesyndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13557731000146111 | NLRC4-gerelateerd macrofaagactivatiesyndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13557741000146115 | syndroom van auto-inflammatie, intermitterende koorts en infantiele enterocolitis | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 4697307019 | A rare genetic systemic or rheumatologic disease with characteristics of neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure and death. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Periodic fever, infantile enterocolitis, autoinflammatory syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Periodic fever, infantile enterocolitis, autoinflammatory syndrome | Is a | Chronic digestive system disorder | false | Inferred relationship | Some | ||
| Periodic fever, infantile enterocolitis, autoinflammatory syndrome | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Periodic fever, infantile enterocolitis, autoinflammatory syndrome | Is a | Hereditary periodic fever (disorder) | true | Inferred relationship | Some | ||
| Periodic fever, infantile enterocolitis, autoinflammatory syndrome | Is a | Chronic disease of immune function (disorder) | false | Inferred relationship | Some | ||
| Periodic fever, infantile enterocolitis, autoinflammatory syndrome | Is a | Chronic disease of immune structure (disorder) | false | Inferred relationship | Some | ||
| Periodic fever, infantile enterocolitis, autoinflammatory syndrome | Is a | Hereditary white blood cell disorder (disorder) | true | Inferred relationship | Some | ||
| Periodic fever, infantile enterocolitis, autoinflammatory syndrome | Is a | Macrophage activation syndrome (disorder) | true | Inferred relationship | Some | ||
| Periodic fever, infantile enterocolitis, autoinflammatory syndrome | Is a | Enterocolitis | true | Inferred relationship | Some | ||
| Periodic fever, infantile enterocolitis, autoinflammatory syndrome | Clinical course | Recurrent | true | Inferred relationship | Some | 4 | |
| Periodic fever, infantile enterocolitis, autoinflammatory syndrome | Associated with | Fever (finding) | true | Inferred relationship | Some | 5 | |
| Periodic fever, infantile enterocolitis, autoinflammatory syndrome | Occurrence | Infancy | true | Inferred relationship | Some | 2 | |
| Periodic fever, infantile enterocolitis, autoinflammatory syndrome | Finding site | Structure of small intestine (body structure) | true | Inferred relationship | Some | 2 | |
| Periodic fever, infantile enterocolitis, autoinflammatory syndrome | Associated morphology | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Periodic fever, infantile enterocolitis, autoinflammatory syndrome | Occurrence | Infancy | true | Inferred relationship | Some | 3 | |
| Periodic fever, infantile enterocolitis, autoinflammatory syndrome | Finding site | Colon structure | true | Inferred relationship | Some | 3 | |
| Periodic fever, infantile enterocolitis, autoinflammatory syndrome | Associated morphology | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Periodic fever, infantile enterocolitis, autoinflammatory syndrome | Finding site | Mononuclear phagocyte system structure (body structure) | true | Inferred relationship | Some | 1 | |
| Periodic fever, infantile enterocolitis, autoinflammatory syndrome | Associated morphology | Histiocytic proliferation (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Periodic fever, infantile enterocolitis, autoinflammatory syndrome | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 | |
| Periodic fever, infantile enterocolitis, autoinflammatory syndrome | Interprets | Body temperature (observable entity) | true | Inferred relationship | Some | 6 | |
| Periodic fever, infantile enterocolitis, autoinflammatory syndrome | Has interpretation | Above reference range | true | Inferred relationship | Some | 6 | |
| Periodic fever, infantile enterocolitis, autoinflammatory syndrome | Finding site | Structure of immune system (body structure) | true | Inferred relationship | Some | 7 | |
| Periodic fever, infantile enterocolitis, autoinflammatory syndrome | Associated morphology | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 7 | |
| Periodic fever, infantile enterocolitis, autoinflammatory syndrome | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 7 | |
| Periodic fever, infantile enterocolitis, autoinflammatory syndrome | Is a | Recurrent histiocytic syndrome (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR