Status: current, Primitive. 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 | Case insensitive | SNOMED CT core |
3451872018 | Epileptic encephalopathy with global cerebral demyelination | en | Synonym | Active | Case insensitive | SNOMED CT core |
3451873011 | Mitochondrial aspartate-glutamate carrier 1 deficiency | en | Synonym | Active | Case insensitive | 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 | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Epileptic encephalopathy with global cerebral demyelination | Is a | Congenital and developmental anomalies of the nervous system | false | Inferred relationship | Some | ||
Epileptic encephalopathy with global cerebral demyelination | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Epileptic encephalopathy with global cerebral demyelination | Associated morphology | Hypomyelination | true | Inferred relationship | Some | 1 | |
Epileptic encephalopathy with global cerebral demyelination | Finding site | Structure of cerebrum | true | Inferred relationship | Some | 1 | |
Epileptic encephalopathy with global cerebral demyelination | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Epileptic encephalopathy with global cerebral demyelination | Is a | Congenital anomaly of cerebrum | true | Inferred relationship | Some | ||
Epileptic encephalopathy with global cerebral demyelination | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Epileptic encephalopathy with global cerebral demyelination | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Epileptic encephalopathy with global cerebral demyelination | Is a | Anomalies of cerebrum | false | Inferred relationship | Some | ||
Epileptic encephalopathy with global cerebral demyelination | Is a | Mitochondrial cytopathy | true | Inferred relationship | Some | ||
Epileptic encephalopathy with global cerebral demyelination | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Epileptic encephalopathy with global cerebral demyelination | Is a | Epileptic encephalopathy | true | Inferred relationship | Some | ||
Epileptic encephalopathy with global cerebral demyelination | Has definitional manifestation | Seizure | false | Inferred relationship | Some | ||
Epileptic encephalopathy with global cerebral demyelination | Associated morphology | Hypomyelination | false | Inferred relationship | Some | 2 | |
Epileptic encephalopathy with global cerebral demyelination | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Epileptic encephalopathy with global cerebral demyelination | Finding site | Structure of cerebrum | false | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Queensland allied health clinical finding reference set
Queensland allied health indicator for intervention reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set