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 |
| 5072044011 | Benign familial neonatal-infantile seizures | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5378761012 | SeLFNIE - self-limited familial neonatal-infantile epilepsy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5378762017 | Self-limited familial neonatal-infantile epilepsy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5378763010 | Self-limited familial neonatal-infantile epilepsy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5400195012 | 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. So far, this syndrome has been described in multiple members of 10 families. 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Self-limited familial neonatal-infantile epilepsy | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Self-limited familial neonatal-infantile epilepsy | Is a | Focal onset epileptic seizure | false | Inferred relationship | Some | ||
| Self-limited familial neonatal-infantile epilepsy | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Self-limited familial neonatal-infantile epilepsy | Is a | Epilepsy | false | Inferred relationship | Some | ||
| Self-limited familial neonatal-infantile epilepsy | Occurrence | Infancy | true | Inferred relationship | Some | 1 | |
| Self-limited familial neonatal-infantile epilepsy | Finding site | Cerebrum | false | Inferred relationship | Some | 1 | |
| Self-limited familial neonatal-infantile epilepsy | Finding site | Brain structure | true | Inferred relationship | Some | 1 | |
| Self-limited familial neonatal-infantile epilepsy | Is a | Self-limited focal epilepsy | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR