Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3318663018 | Hemochromatosis type 3 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3318664012 | Hemochromatosis type 3 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3318665013 | Haemochromatosis type 3 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3318670018 | TFR2 (transferrin receptor 2 gene) related hemochromatosis | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3318671019 | TFR2 (transferrin receptor 2 gene) related haemochromatosis | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3318666014 | A form of rare hereditary hemochromatosis, a group of diseases characterized by excessive tissue iron deposition of genetic origin. Type 3 hemochromatosis concerns middle aged-adults but also adolescents and young adults. It presents with liver disease, hypogonadism, arthritis, diabetes and skin pigmentation. The disease is caused by mutations of the transferrin receptor 2 gene (TFR2) on chromosome 7. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3318667017 | A form of rare hereditary haemochromatosis, a group of diseases characterised by excessive tissue iron deposition of genetic origin. Type 3 haemochromatosis concerns middle aged-adults but also adolescents and young adults. It presents with liver disease, hypogonadism, arthritis, diabetes and skin pigmentation. The disease is caused by mutations of the transferrin receptor 2 gene (TFR2) on chromosome 7. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hemochromatosis type 3 (disorder) | Is a | Hereditary hemochromatosis | true | Inferred relationship | Some | ||
| Hemochromatosis type 3 (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Hemochromatosis type 3 (disorder) | Causative agent | Iron AND/OR iron compound | false | Inferred relationship | Some | ||
| Hemochromatosis type 3 (disorder) | Causative agent | Iron and/or iron compound | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR