Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jun 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5362897015 | Combined immunodeficiency due to RELA haploinsufficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5362898013 | Combined immunodeficiency due to RELA haploinsufficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5362902019 | A rare non-severe combined immunodeficiency characterised by tumour necrosis factor-dependent chronic mucocutaneous ulcerations and inflammatory bowel disease presenting during the first years of life. Ulcerations occur primarily in the oral, gastrointestinal, and vaginal mucosa. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5362903012 | A rare non-severe combined immunodeficiency characterized by tumor necrosis factor-dependent chronic mucocutaneous ulcerations and inflammatory bowel disease presenting during the first years of life. Ulcerations occur primarily in the oral, gastrointestinal, and vaginal mucosa. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Combined immunodeficiency due to RELA haploinsufficiency (disorder) | Is a | Chronic inflammatory disorder | true | Inferred relationship | Some | ||
| Combined immunodeficiency due to RELA haploinsufficiency (disorder) | Is a | Chronic disease of immune function (disorder) | true | Inferred relationship | Some | ||
| Combined immunodeficiency due to RELA haploinsufficiency (disorder) | Is a | Combined immunodeficiency disease | true | Inferred relationship | Some | ||
| Combined immunodeficiency due to RELA haploinsufficiency (disorder) | Is a | Genetic disease | true | Inferred relationship | Some | ||
| Combined immunodeficiency due to RELA haploinsufficiency (disorder) | Is a | Mucocutaneous ulcer | true | Inferred relationship | Some | ||
| Combined immunodeficiency due to RELA haploinsufficiency (disorder) | Clinical course | Chronic | true | Inferred relationship | Some | 2 | |
| Combined immunodeficiency due to RELA haploinsufficiency (disorder) | Occurrence | Childhood | true | Inferred relationship | Some | 1 | |
| Combined immunodeficiency due to RELA haploinsufficiency (disorder) | Finding site | Structure of skin and/or mucous membrane (body structure) | true | Inferred relationship | Some | 1 | |
| Combined immunodeficiency due to RELA haploinsufficiency (disorder) | Associated morphology | Chronic ulcerative inflammation | true | Inferred relationship | Some | 1 | |
| Combined immunodeficiency due to RELA haploinsufficiency (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 | |
| Combined immunodeficiency due to RELA haploinsufficiency (disorder) | Is a | Inflammation of intestine (disorder) | true | Inferred relationship | Some | ||
| Combined immunodeficiency due to RELA haploinsufficiency (disorder) | Is a | Chronic digestive system disorder | true | Inferred relationship | Some | ||
| Combined immunodeficiency due to RELA haploinsufficiency (disorder) | Occurrence | Childhood | true | Inferred relationship | Some | 3 | |
| Combined immunodeficiency due to RELA haploinsufficiency (disorder) | Finding site | Intestinal structure | true | Inferred relationship | Some | 3 | |
| Combined immunodeficiency due to RELA haploinsufficiency (disorder) | Associated morphology | Chronic inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Combined immunodeficiency due to RELA haploinsufficiency (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR