Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3732606015 | SCN2A encephalopathy | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3736366011 | Sodium voltage-gated channel alpha subunit 2 encephalopathy | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3736367019 | Sodium voltage-gated channel alpha subunit 2 encephalopathy (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3732607012 | Encephalopathy caused by SCN2A mutation. SCN2A encodes the major subunit of voltage-gated sodium channels in excitatory neurons. Mutation may be associated with hereditary disease including autosomal dominant epilepsy syndrome and benign familial neonatal infantile seizures. De novo SCN2A mutations have been accepted to cause severe disorders including epileptic encephalopathies, intellectual disability without epilepsy, Ohtahara and West syndrome, epilepsy of infancy with migrating focal seizures (EIMFS). | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Sodium voltage-gated channel alpha subunit 2 encephalopathy | Is a | Encephalopathy | true | Inferred relationship | Some | ||
| Sodium voltage-gated channel alpha subunit 2 encephalopathy | Finding site | Brain structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
Description inactivation indicator reference set
FHIR