Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3657302011 | SCN8A encephalopathy | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3657303018 | SCN8A (sodium voltage-gated channel alpha subunit 8) related epilepsy with encephalopathy | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3657304012 | Early infantile epileptic encephalopathy 13 | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3657305013 | Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3657306014 | SCN8A-related epilepsy with encephalopathy | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3657307017 | Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3657312016 | Disease with characteristics of recurrent seizures, encephalopathy and intellectual disability with onset of symptoms typically beginning in infancy. Seizures may be refractory and intellectual disability may be mild to severe. Sudden unexpected death in epilepsy may occur in rare cases. The disease is caused by mutations in the SCN8A gene, which provides instructions for making the alpha subunit of Nav1.6. Follows an autosomal dominant pattern of inheritance however most cases of this condition result from de novo mutation. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy | Interprets | Intellectual ability | true | Inferred relationship | Some | 3 | |
| Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 4 | |
| Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy | Is a | Non-specific brain syndrome | false | Inferred relationship | Some | ||
| Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy | Is a | Epilepsy | true | Inferred relationship | Some | ||
| Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy | Finding site | Structure of cerebrum | true | Inferred relationship | Some | 1 | |
| Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy | Occurrence | Infancy | true | Inferred relationship | Some | 1 |
| 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
FHIR