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764522009: Familial focal epilepsy with variable foci (disorder)

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
5404324017 Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, 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
5404325016 Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterised by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, 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
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
5404324017 Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, 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
5404325016 Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterised by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, 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
3421111001000114 Familiäre fokale Epilepsie mit variablen Herden de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
887201000172118 epilepsie focale familiale à foyers variables fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1008621000172114 epilepsie partielle familiale à foyers variables fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
887201000172118 epilepsie focale familiale à foyers variables fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1008621000172114 epilepsie partielle familiale à foyers variables fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3421111001000114 Familiäre fokale Epilepsie mit variablen Herden de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial focal epilepsy with variable foci Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Familial focal epilepsy with variable foci Is a Congenital disease false Inferred relationship Existential restriction modifier (core metadata concept)
Familial focal epilepsy with variable foci Is a épilepsie symptomatique définie par sa localisation false Inferred relationship Existential restriction modifier (core metadata concept)
Familial focal epilepsy with variable foci Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial focal epilepsy with variable foci Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial focal epilepsy with variable foci Finding site The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. false Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial focal epilepsy with variable foci Is a Focal epilepsy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial focal epilepsy with variable foci Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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