Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4696003018 | X-linked dominant erythropoietic protoporphyria | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4696006014 | X-linked dominant erythropoietic protoporphyria (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4696004012 | A rare disorder of porphyrin and haem metabolism characterised by infantile or childhood onset of severe cutaneous photosensitivity in affected males, presenting as tingling, burning, and itching within minutes of light exposure, often accompanied by swelling and redness of the skin. Pain may persist for hours or days after the initial reaction. Some patients show hepatic involvement and gallstone formation. Laboratory examination reveals increased levels of zinc and metal-free protoporphyrin. The phenotype in heterozygous females ranges from asymptomatic to severe. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4696005013 | A rare disorder of porphyrin and heme metabolism characterized by infantile or childhood onset of severe cutaneous photosensitivity in affected males, presenting as tingling, burning, and itching within minutes of light exposure, often accompanied by swelling and redness of the skin. Pain may persist for hours or days after the initial reaction. Some patients show hepatic involvement and gallstone formation. Laboratory examination reveals increased levels of zinc and metal-free protoporphyrin. The phenotype in heterozygous females ranges from asymptomatic to severe. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked dominant erythropoietic protoporphyria | est un(e) (attribut) | X-linked dominant hereditary disease (disorder) | true | Inferred relationship | Some | ||
| X-linked dominant erythropoietic protoporphyria | est un(e) (attribut) | protoporphyrie érythropoïétique (trouble) | true | Inferred relationship | Some | ||
| X-linked dominant erythropoietic protoporphyria | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR