Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5308392015 | Solute carrier family 40 member 1-related hemochromatosis (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5308393013 | SLC40A1-related haemochromatosis | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5308394019 | Solute carrier family 40 member 1-related hemochromatosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5308395018 | Solute carrier family 40 member 1-related haemochromatosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5308396017 | SLC40A1-related hemochromatosis | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5308397014 | A form of rare hemochromatosis (HC) with characteristics of increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC. The disease is due to gain-of-function (GOF) mutations of the ferroportin gene (SLC40A1) on chromosome 2. These mutations cause an hepcidin-independent increase in cellular iron export with increased intestinal iron absorption and iron release from spleen macrophages. Transmission is autosomal dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5308614011 | A form of rare haemochromatosis (HC) with characteristics of increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC. The disease is due to gain-of-function (GOF) mutations of the ferroportin gene (SLC40A1) on chromosome 2. These mutations cause an hepcidin-independent increase in cellular iron export with increased intestinal iron absorption and iron release from spleen macrophages. Transmission is autosomal dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Solute carrier family 40 member 1-related hemochromatosis (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Solute carrier family 40 member 1-related hemochromatosis (disorder) | Is a | Hereditary hemochromatosis | true | Inferred relationship | Some | ||
| Solute carrier family 40 member 1-related hemochromatosis (disorder) | Causative agent | Iron and/or iron compound | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR