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 |
| 3451871013 | Epileptic encephalopathy with global cerebral demyelination (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3451872018 | Epileptic encephalopathy with global cerebral demyelination | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3451873011 | Mitochondrial aspartate-glutamate carrier 1 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3451874017 | A rare mitochondrial substrate carrier disorder with characteristics of severe muscular hypotonia, seizures beginning in the first year of life and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 1011971000172110 | déficit en transporteur mitochondrial AGC1 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 1017171000172119 | encéphalopathie épileptique avec démyélinisation cérébrale généralisée | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Epileptic encephalopathy with global cerebral demyelination (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Epileptic encephalopathy with global cerebral demyelination (disorder) | Is a | Anomalies of cerebrum | false | Inferred relationship | Some | ||
| Epileptic encephalopathy with global cerebral demyelination (disorder) | Is a | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some | ||
| Epileptic encephalopathy with global cerebral demyelination (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Epileptic encephalopathy with global cerebral demyelination (disorder) | Is a | Epileptic encephalopathy (disorder) | true | Inferred relationship | Some | ||
| Epileptic encephalopathy with global cerebral demyelination (disorder) | Has definitional manifestation | Seizure | false | Inferred relationship | Some | ||
| Epileptic encephalopathy with global cerebral demyelination (disorder) | Associated morphology | Hypomyelination | false | Inferred relationship | Some | 2 | |
| Epileptic encephalopathy with global cerebral demyelination (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Epileptic encephalopathy with global cerebral demyelination (disorder) | Finding site | Cerebrum | false | Inferred relationship | Some | 2 | |
| Epileptic encephalopathy with global cerebral demyelination (disorder) | Is a | Congenital and developmental anomalies of the nervous system | false | Inferred relationship | Some | ||
| Epileptic encephalopathy with global cerebral demyelination (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Epileptic encephalopathy with global cerebral demyelination (disorder) | Associated morphology | Hypomyelination | true | Inferred relationship | Some | 1 | |
| Epileptic encephalopathy with global cerebral demyelination (disorder) | Finding site | Cerebrum | true | Inferred relationship | Some | 1 | |
| Epileptic encephalopathy with global cerebral demyelination (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Epileptic encephalopathy with global cerebral demyelination (disorder) | Is a | Congenital anomaly of cerebrum (disorder) | true | Inferred relationship | Some | ||
| Epileptic encephalopathy with global cerebral demyelination (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR