Status: current, Primitive. 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 | Case insensitive | SNOMED CT core |
| 3311523015 | Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3311525010 | TMEM70 related mitochondrial encephalo-cardio-myopathy | en | Synonym | Active | Case sensitive | 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 | Case sensitive | 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 | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| TMEM70 related mitochondrial encephalo-cardio-myopathy | Is a | Mitochondrial myopathy | true | Inferred relationship | Some | ||
| TMEM70 related mitochondrial encephalo-cardio-myopathy | Is a | Myocardial disease | true | Inferred relationship | Some | ||
| TMEM70 related mitochondrial encephalo-cardio-myopathy | Is a | Encephalopathy | true | Inferred relationship | Some | ||
| TMEM70 related mitochondrial encephalo-cardio-myopathy | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| TMEM70 related mitochondrial encephalo-cardio-myopathy | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| TMEM70 related mitochondrial encephalo-cardio-myopathy | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| TMEM70 related mitochondrial encephalo-cardio-myopathy | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| TMEM70 related mitochondrial encephalo-cardio-myopathy | Is a | Neonatal cardiovascular disorder | true | Inferred relationship | Some | ||
| TMEM70 related mitochondrial encephalo-cardio-myopathy | Occurrence | Neonatal | true | Inferred relationship | Some | 1 | |
| TMEM70 related mitochondrial encephalo-cardio-myopathy | Finding site | Brain structure | true | Inferred relationship | Some | 2 | |
| TMEM70 related mitochondrial encephalo-cardio-myopathy | Finding site | Myocardium structure | true | Inferred relationship | Some | 4 | |
| TMEM70 related mitochondrial encephalo-cardio-myopathy | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 3 | |
| TMEM70 related mitochondrial encephalo-cardio-myopathy | Is a | Neonatal metabolic disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Musculoskeletal finding reference set
Cardiovascular finding reference set
Problem/Diagnosis reference set
FHIR