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 |
3650197015 | FFEVF - familial focal epilepsy with variable foci | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3650198013 | Familial focal epilepsy with variable foci | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3650199017 | Familial partial epilepsy with variable foci | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3650200019 | Familial focal epilepsy with variable foci (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3649935011 | A rare genetic epilepsy disorder with characteristics of autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietal-occipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Familial focal epilepsy with variable foci | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Familial focal epilepsy with variable foci | Is a | Congenital disease (disorder) | true | Inferred relationship | Some | ||
Familial focal epilepsy with variable foci | Is a | Localisation-related symptomatic epilepsy | true | Inferred relationship | Some | ||
Familial focal epilepsy with variable foci | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Familial focal epilepsy with variable foci | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Familial focal epilepsy with variable foci | Finding site | Cerebrum | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets