Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4667203011 | NFAT5 (nuclear factor of activated T cells 5) haploinsufficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4667204017 | NFAT5 haploinsufficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4667205016 | Inflammatory bowel disease, recurrent sinopulmonary infection syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4667206015 | Inflammatory bowel disease, recurrent sinopulmonary infection syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4667207012 | A rare genetic immune disease characterised by recurrent sinopulmonary infections and autoimmune enterocolopathy, manifesting as frequent episodes of intractable diarrhoea with abdominal pain and fever, accompanied by eczematous rashes, due to deficits in components of innate and adaptive immunity. Immunologic abnormalities include IgG subclass deficiency, impaired antigen-induced lymphocyte proliferation, reduced cytokine production by CD8+ T lymphocytes and decreased numbers of natural killer cells. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4667208019 | A rare genetic immune disease characterized by recurrent sinopulmonary infections and autoimmune enterocolopathy, manifesting as frequent episodes of intractable diarrhea with abdominal pain and fever, accompanied by eczematous rashes, due to deficits in components of innate and adaptive immunity. Immunologic abnormalities include IgG subclass deficiency, impaired antigen-induced lymphocyte proliferation, reduced cytokine production by CD8+ T lymphocytes and decreased numbers of natural killer cells. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5347231000052111 | syndrom med inflammatorisk tarmsjukdom och recidiverande sinopulmonell infektion | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Inflammatory bowel disease, recurrent sinopulmonary infection syndrome | Is a | Chronic digestive system disorder | false | Inferred relationship | Some | ||
| Inflammatory bowel disease, recurrent sinopulmonary infection syndrome | Is a | Inflammatory disorder of digestive tract | false | Inferred relationship | Some | ||
| Inflammatory bowel disease, recurrent sinopulmonary infection syndrome | Is a | Chronic disease of respiratory system | false | Inferred relationship | Some | ||
| Inflammatory bowel disease, recurrent sinopulmonary infection syndrome | Is a | Chronic infectious disease | false | Inferred relationship | Some | ||
| Inflammatory bowel disease, recurrent sinopulmonary infection syndrome | Is a | Respiratory tract infection | true | Inferred relationship | Some | ||
| Inflammatory bowel disease, recurrent sinopulmonary infection syndrome | Is a | Inflammation of specific body organs | false | Inferred relationship | Some | ||
| Inflammatory bowel disease, recurrent sinopulmonary infection syndrome | Is a | Chronic disease of immune function (disorder) | false | Inferred relationship | Some | ||
| Inflammatory bowel disease, recurrent sinopulmonary infection syndrome | Is a | Recurrent disease | false | Inferred relationship | Some | ||
| Inflammatory bowel disease, recurrent sinopulmonary infection syndrome | Is a | Primary immune deficiency disorder | true | Inferred relationship | Some | ||
| Inflammatory bowel disease, recurrent sinopulmonary infection syndrome | Is a | Genetic disease | true | Inferred relationship | Some | ||
| Inflammatory bowel disease, recurrent sinopulmonary infection syndrome | Is a | Autoimmune disease | true | Inferred relationship | Some | ||
| Inflammatory bowel disease, recurrent sinopulmonary infection syndrome | Is a | Disorder of intestine | false | Inferred relationship | Some | ||
| Inflammatory bowel disease, recurrent sinopulmonary infection syndrome | Clinical course | Recurrent | true | Inferred relationship | Some | 3 | |
| Inflammatory bowel disease, recurrent sinopulmonary infection syndrome | Finding site | Intestinal structure | true | Inferred relationship | Some | 1 | |
| Inflammatory bowel disease, recurrent sinopulmonary infection syndrome | Associated morphology | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Inflammatory bowel disease, recurrent sinopulmonary infection syndrome | Pathological process (attribute) | Autoimmune process | true | Inferred relationship | Some | 1 | |
| Inflammatory bowel disease, recurrent sinopulmonary infection syndrome | Finding site | Structure of respiratory system (body structure) | true | Inferred relationship | Some | 2 | |
| Inflammatory bowel disease, recurrent sinopulmonary infection syndrome | Pathological process (attribute) | Infectious process (qualifier value) | true | Inferred relationship | Some | 2 | |
| Inflammatory bowel disease, recurrent sinopulmonary infection syndrome | Is a | Inflammation of intestine (disorder) | true | Inferred relationship | Some | ||
| Inflammatory bowel disease, recurrent sinopulmonary infection syndrome | Is a | Recurrent infectious disease (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR