Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2006. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 345311015 | Severe myoclonic epilepsy in infancy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 618244013 | Severe myoclonic epilepsy in infancy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3513043019 | Dravet Syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3513044013 | A genetic epilepsy of childhood with characteristics of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Seizures can regress in adulthood but most patients have ongoing seizures that are refractory to medication. Around 85% of cases are due to a mutation or deletion in the SCN1A gene (2q24.3), encoding a voltage-gated sodium channel essential for the excitability of neurons. In families with a known SCN1A mutation, inheritance is autosomal dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 1966721000052115 | svår myoklonusepilepsi hos spädbarn | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| 3848781000052112 | svår myoklonisk epilepsi hos spädbarn | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| 4689111000052111 | Dravets syndrom | sv | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| 4689121000052115 | SMEI (severe myoclonic epilepsy of infancy) | sv | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Severe myoclonic epilepsy in infancy | Is a | Epilepsy undetermined whether focal or generalised | false | Inferred relationship | Some | ||
| Severe myoclonic epilepsy in infancy | Severity | Severe | false | Inferred relationship | Some | ||
| Severe myoclonic epilepsy in infancy | Finding site | Cerebrum | false | Inferred relationship | Some | ||
| Severe myoclonic epilepsy in infancy | Is a | Myoclonic epilepsy of early childhood | false | Inferred relationship | Some | ||
| Severe myoclonic epilepsy in infancy | Occurrence | Childhood | false | Inferred relationship | Some | ||
| Severe myoclonic epilepsy in infancy | Occurrence | Infancy | false | Inferred relationship | Some | ||
| Severe myoclonic epilepsy in infancy | Has definitional manifestation | Seizure | false | Inferred relationship | Some | ||
| Severe myoclonic epilepsy in infancy | Is a | Refractory myoclonic epilepsy (disorder) | true | Inferred relationship | Some | ||
| Severe myoclonic epilepsy in infancy | Is a | Epileptic encephalopathy (disorder) | true | Inferred relationship | Some | ||
| Severe myoclonic epilepsy in infancy | Occurrence | Infancy | true | Inferred relationship | Some | 1 | |
| Severe myoclonic epilepsy in infancy | Finding site | Cerebrum | true | Inferred relationship | Some | 1 | |
| Severe myoclonic epilepsy in infancy | Interprets | Movement | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR