FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

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
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


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 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

Back to Start