Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4667423010 | Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4667424016 | Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4667425015 | Coenzyme Q4-related neonatal encephalomyopathy | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4667426019 | COQ4-related neonatal encephalomyopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4667427011 | A rare mitochondrial disease with characteristics of neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | Is a | Disorder of nerve due to metabolic disease (disorder) | true | Inferred relationship | Some | ||
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | Is a | Neonatal cardiovascular disorder | true | Inferred relationship | Some | ||
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | Is a | Mitochondrial encephalomyopathy (disorder) | true | Inferred relationship | Some | ||
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | Is a | Hypertrophic mitochondrial cardiomyopathy (disorder) | true | Inferred relationship | Some | ||
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | Is a | Coenzyme Q10 deficiency (disorder) | true | Inferred relationship | Some | ||
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | Is a | Neonatal metabolic disorder (disorder) | true | Inferred relationship | Some | ||
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | Is a | Central nervous system complication | true | Inferred relationship | Some | ||
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | Due to | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some | 5 | |
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | Finding site | Nerve structure | true | Inferred relationship | Some | 4 | |
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | Occurrence | Neonatal | true | Inferred relationship | Some | 2 | |
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 2 | |
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | Occurrence | Neonatal | true | Inferred relationship | Some | 3 | |
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 3 | |
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | Finding site | Myocardium structure | true | Inferred relationship | Some | 1 | |
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | Associated morphology | Hypertrophy | true | Inferred relationship | Some | 1 | |
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | Is a | Secondary myopathy | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR