Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5072039016 | Benign familial neonatal-infantile seizures (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5072040019 | BFNIS - benign familial neonatal-infantile seizures | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5072041015 | Benign neonatal-infantile epilepsy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5072044011 | Benign familial neonatal-infantile seizures | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5072043017 | Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS). Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5599781000052115 | benigna familjära kramper hos nyfött barn eller spädbarn | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Benign familial neonatal-infantile seizures (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Benign familial neonatal-infantile seizures (disorder) | Is a | Focal onset epileptic seizure | false | Inferred relationship | Some | ||
| Benign familial neonatal-infantile seizures (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Benign familial neonatal-infantile seizures (disorder) | Is a | Epilepsy | true | Inferred relationship | Some | ||
| Benign familial neonatal-infantile seizures (disorder) | Occurrence | Infancy | true | Inferred relationship | Some | 1 | |
| Benign familial neonatal-infantile seizures (disorder) | Finding site | Cerebrum | false | Inferred relationship | Some | 1 | |
| Benign familial neonatal-infantile seizures (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR