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 |
| 3320927016 | Adult-onset autosomal recessive sideroblastic anemia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3320928014 | Adult-onset autosomal recessive sideroblastic anemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3320929018 | GLRX5 (glutaredoxin 5) related sideroblastic anemia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3320930011 | GLRX5 (glutaredoxin 5) related sideroblastic anaemia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3320931010 | Adult-onset autosomal recessive sideroblastic anaemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3320932015 | A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3320933013 | A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anaemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anaemia with liver iron overload and type 2 diabetes. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 877211000172112 | anémie sidéroblastique autosomique récessive de l'adulte | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 1012251000172118 | anémie sidéroblastique associée à GLRX5 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Adult-onset autosomal recessive sideroblastic anemia (disorder) | Is a | Sideroblastic anemia | true | Inferred relationship | Some | ||
| Adult-onset autosomal recessive sideroblastic anemia (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Adult-onset autosomal recessive sideroblastic anemia (disorder) | Is a | Hereditary red blood cell disorder (disorder) | true | Inferred relationship | Some | ||
| Adult-onset autosomal recessive sideroblastic anemia (disorder) | Occurrence | Adulthood | false | Inferred relationship | Some | ||
| Adult-onset autosomal recessive sideroblastic anemia (disorder) | Finding site | Erythrocyte | false | Inferred relationship | Some | ||
| Adult-onset autosomal recessive sideroblastic anemia (disorder) | Has definitional manifestation | érythropénie | false | Inferred relationship | Some | ||
| Adult-onset autosomal recessive sideroblastic anemia (disorder) | Is a | Hereditary disorder by system | false | Inferred relationship | Some | ||
| Adult-onset autosomal recessive sideroblastic anemia (disorder) | Has interpretation | Below reference range | false | Inferred relationship | Some | 5 | |
| Adult-onset autosomal recessive sideroblastic anemia (disorder) | Has interpretation | Below reference range | false | Inferred relationship | Some | 6 | |
| Adult-onset autosomal recessive sideroblastic anemia (disorder) | Interprets | Measurement of total haemoglobin concentration | false | Inferred relationship | Some | 5 | |
| Adult-onset autosomal recessive sideroblastic anemia (disorder) | Interprets | Red blood cell count | false | Inferred relationship | Some | 6 | |
| Adult-onset autosomal recessive sideroblastic anemia (disorder) | Finding site | Erythrocyte | true | Inferred relationship | Some | 1 | |
| Adult-onset autosomal recessive sideroblastic anemia (disorder) | Occurrence | Adulthood | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR