Status: current. Date: 31-Jul 2003
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 1767107013 | Hemochromatosis (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 1778642010 | Hemochromatosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 1786734019 | Iron storage disease | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3013368016 | Haemochromatosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hemochromatosis (disorder) | Is a | Iron overload | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| 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. | Is a | True | Hemochromatosis (disorder) | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | |
| FTH1-related iron overload | Is a | True | Hemochromatosis (disorder) | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly |
This concept is not in any reference sets
FHIR