Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3311522013 | Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3311523015 | Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3311525010 | TMEM70 related mitochondrial encephalo-cardio-myopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3311526011 | Characterized by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria. Most patients who survive the neonatal period have mild cranio-facial dysmorphism with low set ears, prominent nasal bridge and retrognathia, persisting muscular hypotonia and moderate psychomotor developmental delay. The result of an isolated decrease in the tissue content and activity of mitochondrial FoF1 ATP synthase caused by depressed biosynthesis of the enzyme. This enzyme defect is present in all tissues and is due to autosomal recessive mutations in the TMEM70 gene (8q21.11), encoding ancillary factor of ATP synthase biogenesis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3311527019 | Characterised by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apnoeic spells within hours after birth accompanied by lactic acidosis, hyperammonaemia and 3-methylglutaconic aciduria. Most patients who survive the neonatal period have mild cranio-facial dysmorphism with low set ears, prominent nasal bridge and retrognathia, persisting muscular hypotonia and moderate psychomotor developmental delay. The result of an isolated decrease in the tissue content and activity of mitochondrial FoF1 ATP synthase caused by depressed biosynthesis of the enzyme. This enzyme defect is present in all tissues and is due to autosomal recessive mutations in the TMEM70 gene (8q21.11), encoding ancillary factor of ATP synthase biogenesis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) | est un(e) (attribut) | Mitochondrial myopathy | true | Inferred relationship | Some | ||
| Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) | est un(e) (attribut) | maladie du myocarde | true | Inferred relationship | Some | ||
| Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) | est un(e) (attribut) | Disorder of brain (disorder) | true | Inferred relationship | Some | ||
| Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) | est un(e) (attribut) | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) | est un(e) (attribut) | Neonatal cardiovascular disorder | true | Inferred relationship | Some | ||
| Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) | survenue (attribut) | néonatal | true | Inferred relationship | Some | 1 | |
| Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | true | Inferred relationship | Some | 2 | |
| Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) | localisation d'une constatation (attribut) | structure du myocarde | true | Inferred relationship | Some | 4 | |
| Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) | localisation d'une constatation (attribut) | structure de muscle squelettique | true | Inferred relationship | Some | 3 | |
| Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) | est un(e) (attribut) | Neonatal metabolic disorder (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR