Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3657302011 | SCN8A encephalopathy | en | Synonym (core metadata concept) | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3657303018 | SCN8A (sodium voltage-gated channel alpha subunit 8) related epilepsy with encephalopathy | en | Synonym (core metadata concept) | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3657304012 | Early infantile epileptic encephalopathy 13 | en | Synonym (core metadata concept) | Inactive | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3657305013 | Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) | en | Fully specified name | Inactive | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3657306014 | SCN8A-related epilepsy with encephalopathy | en | Synonym (core metadata concept) | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3657307017 | Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy | en | Synonym (core metadata concept) | Inactive | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5373035017 | Sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5373036016 | Sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5373037013 | SCN8A developmental and epileptic encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5373038015 | SCN8A-DEE - sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5373713019 | SCN8A-DEE - SCN8A - developmental and epileptic encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | 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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5373039011 | Disease with characteristics of recurrent seizures, encephalopathy and intellectual disability with onset of symptoms typically beginning in infancy. Seizures may be drug-resistant 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 variant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy (disorder) | Is a | Non-specific brain syndrome | false | Inferred relationship | Some | ||
| Sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy (disorder) | Is a | Intellectual disability | false | Inferred relationship | Some | ||
| Sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy (disorder) | Is a | Epilepsy | false | Inferred relationship | Some | ||
| Sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy (disorder) | Finding site | Cerebrum | false | Inferred relationship | Some | 1 | |
| Sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy (disorder) | Occurrence | Infancy | true | Inferred relationship | Some | 1 | |
| Sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
| Sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
| Sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
| Sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy (disorder) | Is a | Developmental and epileptic encephalopathy | true | Inferred relationship | Some | ||
| Sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 1 | |
| Sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy (disorder) | Is a | Genetic intellectual disability | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR