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FHIR
© HL7.org
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Server Home |
FHIR Server FHIR Server 3.7.22-SNAPSHOT
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FHIR Version n/a
User: [n/a]
Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 1771758010 | Inherited disorder of porphyrin metabolism (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 1782836013 | Inherited disorder of porphyrin metabolism | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5264941000241118 | affection héréditaire du métabolisme des porphyrines | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Inherited disorder of porphyrin metabolism (disorder) | Is a | Disorder of porphyrin metabolism | true | Inferred relationship | Some | ||
| Inherited disorder of porphyrin metabolism (disorder) | Finding site | Body system structure | false | Inferred relationship | Some | ||
| Inherited disorder of porphyrin metabolism (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Inherited disorder of porphyrin metabolism (disorder) | Is a | Hereditary disease | false | Inferred relationship | Some | ||
| Inherited disorder of porphyrin metabolism (disorder) | Is a | Hereditary metabolic disease | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Hereditary sideroblastic anemia | Is a | False | Inherited disorder of porphyrin metabolism (disorder) | Inferred relationship | Some | |
| Congenital porphyria | Is a | True | Inherited disorder of porphyrin metabolism (disorder) | Inferred relationship | Some | |
| A rare syndromic, inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia. | Is a | False | Inherited disorder of porphyrin metabolism (disorder) | Inferred relationship | Some | |
| A constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid. | Is a | True | Inherited disorder of porphyrin metabolism (disorder) | Inferred relationship | Some |
This concept is not in any reference sets