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) | est un(e) (attribut) | Disorder of nerve due to metabolic disease (disorder) | true | Inferred relationship | Some | ||
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | est un(e) (attribut) | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | est un(e) (attribut) | Neonatal cardiovascular disorder | true | Inferred relationship | Some | ||
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | est un(e) (attribut) | Mitochondrial encephalomyopathy (disorder) | true | Inferred relationship | Some | ||
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | est un(e) (attribut) | Hypertrophic mitochondrial cardiomyopathy (disorder) | true | Inferred relationship | Some | ||
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | est un(e) (attribut) | Coenzyme Q10 deficiency (disorder) | true | Inferred relationship | Some | ||
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | est un(e) (attribut) | Neonatal metabolic disorder (disorder) | true | Inferred relationship | Some | ||
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | est un(e) (attribut) | complication liée au système nerveux central | true | Inferred relationship | Some | ||
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | Due to | Mitochondrial cytopathy | true | Inferred relationship | Some | 5 | |
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | localisation d'une constatation (attribut) | structure d'un nerf | true | Inferred relationship | Some | 4 | |
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | survenue (attribut) | néonatal | true | Inferred relationship | Some | 2 | |
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | true | Inferred relationship | Some | 2 | |
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | survenue (attribut) | néonatal | true | Inferred relationship | Some | 3 | |
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | localisation d'une constatation (attribut) | structure de muscle squelettique | true | Inferred relationship | Some | 3 | |
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | localisation d'une constatation (attribut) | structure du myocarde | true | Inferred relationship | Some | 1 | |
| Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | morphologie associée (attribut) | hypertrophie | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR