Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3430986016 | Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3430987013 | Mitochondrial myopathy with sideroblastic anemia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3430988015 | Mitochondrial myopathy with sideroblastic anaemia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3430989011 | Myopathy, lactic acidosis and sideroblastic anemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3430990019 | Myopathy, lactic acidosis and sideroblastic anaemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6982311000146113 | syndroom van mitochondriale myopathie met sideroblastische anemie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6982321000146115 | syndroom van mitochondriale myopathie met sideroblastische anemie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3430991015 | Belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidemia and mitochondrial myopathy. Less than 10 cases have been described so far. A 656C-->T mutation in the nuclear pseudouridine synthase 1 gene (PUS1), localized to 12q24.33, has recently been identified in some patients. Deficient pseudouridylation of mitochondrial tRNAs may be responsible for the oxidative phosphorylation disorder. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3430992010 | Belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia and mitochondrial myopathy. Less than 10 cases have been described so far. A 656C-->T mutation in the nuclear pseudouridine synthase 1 gene (PUS1), localised to 12q24.33, has recently been identified in some patients. Deficient pseudouridylation of mitochondrial tRNAs may be responsible for the oxidative phosphorylation disorder. 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 |
| Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) | Is a | Mitochondrial myopathy | true | Inferred relationship | Some | ||
| Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) | Is a | Sideroblastic anemia | true | Inferred relationship | Some | ||
| Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 2 | |
| Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 | |
| Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) | Interprets | Measurement of total haemoglobin concentration | true | Inferred relationship | Some | 3 | |
| Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
| Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) | Interprets | Red blood cell count | true | Inferred relationship | Some | 4 | |
| Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) | Is a | Hereditary disorder of cellular element of blood (disorder) | true | Inferred relationship | Some | ||
| Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) | Is a | Hemoglobin below reference range (finding) | true | Inferred relationship | Some | ||
| Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) | Is a | Red blood cell count below reference range | true | Inferred relationship | Some | ||
| Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) | Is a | Hereditary metabolic disease | false | Inferred relationship | Some | ||
| Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) | Is a | Hereditary myopathy (disorder) | true | Inferred relationship | Some | ||
| Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) | Is a | hereditaire sideroblastische anemie | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR