Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5296172011 | Digenic haemochromatosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5296174012 | Digenic hemochromatosis (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5296175013 | Digenic hemochromatosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5296171016 | A rare subtype of haemochromatosis characterised by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related haemochromatosis is not enough to fully explain the clinical picture of the patient. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5296173018 | A rare subtype of hemochromatosis characterized by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related hemochromatosis is not enough to fully explain the clinical picture of the patient. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Digenic haemochromatosis | Is a | Metabolic and genetic disorder affecting the liver | true | Inferred relationship | Some | ||
| Digenic haemochromatosis | Is a | Hereditary hemochromatosis | true | Inferred relationship | Some | ||
| Digenic haemochromatosis | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Digenic haemochromatosis | Is a | Inborn error of metabolism | true | Inferred relationship | Some | ||
| Digenic haemochromatosis | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Digenic haemochromatosis | Finding site | Liver structure | true | Inferred relationship | Some | 3 | |
| Digenic haemochromatosis | Causative agent | Iron and/or iron compound | true | Inferred relationship | Some | 1 | |
| Digenic haemochromatosis | Is a | Disorder of digestive system specific to fetus OR newborn | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR