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 |
| 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) | est un(e) (attribut) | Hemoglobin low | true | Inferred relationship | Some | ||
| Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) | est un(e) (attribut) | numération des globules rouges basse (constatation) | true | Inferred relationship | Some | ||
| Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) | est un(e) (attribut) | Mitochondrial myopathy | true | Inferred relationship | Some | ||
| Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) | est un(e) (attribut) | Sideroblastic anemia | true | Inferred relationship | Some | ||
| Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) | localisation d'une constatation (attribut) | structure de muscle squelettique | true | Inferred relationship | Some | 2 | |
| Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 3 | |
| Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) | interprète (attribut) | Measurement of total haemoglobin concentration | true | Inferred relationship | Some | 3 | |
| Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 4 | |
| Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) | interprète (attribut) | Red blood cell count | true | Inferred relationship | Some | 4 | |
| Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) | est un(e) (attribut) | troubles héréditaires des éléments figurés du sang | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR