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19598007: Generalized epilepsy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5180631015 A type of epilepsy with only generalised onset epileptic seizures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5180632010 A type of epilepsy with only generalized onset epileptic seizures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
32997016 Generalized epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
479713017 Generalised epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
747894014 Generalized epilepsy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
924721000195118 epilessia generalizzata it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4441000172111 épilepsie généralisée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
876071000195118 Generalisierte Epilepsie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

14 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
A type of epilepsy with only generalised onset epileptic seizures. Is a A disease of the brain characterized by an enduring predisposition to generate epileptic seizures. true Inferred relationship Some
A type of epilepsy with only generalised onset epileptic seizures. 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 Some 1
A type of epilepsy with only generalised onset epileptic seizures. Has definitional manifestation Seizure false Inferred relationship Some
A type of epilepsy with only generalised onset epileptic seizures. Finding site Brain structure true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
épilepsie généralisée cryptogénique Is a False A type of epilepsy with only generalised onset epileptic seizures. Inferred relationship Some
Generalized nonconvulsive epilepsy Is a False A type of epilepsy with only generalised onset epileptic seizures. Inferred relationship Some
A distinct sub-group of genetic generalised epilepsy that includes only four epilepsy syndromes: childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with generalised tonic-clonic seizures alone. Is a False A type of epilepsy with only generalised onset epileptic seizures. Inferred relationship Some
A type of self-limited focal epilepsy with onset typically between day two and seven of life. Seizures are focal tonic at onset, affecting the head, face, and limbs. Focal clonic or tonic seizures may evolve to bilateral tonic or clonic seizures. Onset may alternate between hemispheres. Autonomic features (apnea and cyanosis) are present in one third of seizures and may be the predominant manifestation. Seizure semiology may progress in a sequential pattern with tonic, clonic, myoclonic and autonomic features following each other without a single predominant feature. Clusters of seizures may occur over hours or days with the neonate behaving normally between events. Developmental progress is usually normal. The electroencephalogram (EEG) background is normal or has minor nonspecific abnormalities. Focal interictal epileptiform abnormalities can be seen in the central, centrotemporal or frontotemporal regions. MRI is normal or has nonspecific findings. Pathogenic variants are seen in KCNQ2, KCNQ3 and SCN2A. Is a False A type of epilepsy with only generalised onset epileptic seizures. Inferred relationship Some
épilepsie généralisée convulsive Is a False A type of epilepsy with only generalised onset epileptic seizures. Inferred relationship Some
épilepsie symptomatique Is a False A type of epilepsy with only generalised onset epileptic seizures. Inferred relationship Some
epilessia generalizzata non convulsiva Is a False A type of epilepsy with only generalised onset epileptic seizures. Inferred relationship Some
Genetic epilepsy with febrile seizures plus Is a False A type of epilepsy with only generalised onset epileptic seizures. Inferred relationship Some
Generalized epilepsy-paroxysmal dyskinesia syndrome is characterized by the association of paroxysmal dyskinesia and generalized epilepsy (usually absence or generalized tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant. Is a True A type of epilepsy with only generalised onset epileptic seizures. Inferred relationship Some
A type of epilepsy characterised by frequent epileptiform activity associated with developmental slowing and often regression on the background of previously normal development. In this type of epilepsy the frequent seizures and/or epileptiform discharges, rather than underlying aetiology is thought to be the only cause of developmental impairment. Is a False A type of epilepsy with only generalised onset epileptic seizures. Inferred relationship Some
A rare hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. Is a True A type of epilepsy with only generalised onset epileptic seizures. Inferred relationship Some
Refractory myoclonic epilepsy Is a False A type of epilepsy with only generalised onset epileptic seizures. Inferred relationship Some
West syndrome Is a False A type of epilepsy with only generalised onset epileptic seizures. Inferred relationship Some
Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalised seizure types which may be seen in this syndrome include generalised tonic-clonic seizures, clonic, atonic and typical absence seizures. Developmental impairment may be present at onset of epilepsy and may become more evident with age. The electroencephalogram shows regular three Hz generalised spike-and-wave pattern time-locked with myoclonic jerks, with a normal background. Is a False A type of epilepsy with only generalised onset epileptic seizures. Inferred relationship Some
Progressive myoclonic epilepsy Is a False A type of epilepsy with only generalised onset epileptic seizures. Inferred relationship Some
A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy. Is a True A type of epilepsy with only generalised onset epileptic seizures. Inferred relationship Some
Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. Is a False A type of epilepsy with only generalised onset epileptic seizures. Inferred relationship Some
A rare, genetic, infantile epilepsy syndrome disease characterized by neonatal- to infancy-onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability. Is a False A type of epilepsy with only generalised onset epileptic seizures. Inferred relationship Some
A type of epilepsy that presents with myoclonic-atonic seizures usually between 2 to 6 years of age. Other generalised seizure types which may be seen in this syndrome include atonic, myoclonic, generalised tonic-clonic seizures, tonic and absence seizures. Nonconvulsive status epilepticus is common. Development prior to seizure onset is normal in two thirds of cases. These children typically show developmental stagnation or even regression during the active seizures (stormy) phase, which improves once seizures are controlled. The electroencephalogram shows generalised 2 to 6 Hz spike-wave or polyspike-and-wave abnormalities, with normal background. Is a False A type of epilepsy with only generalised onset epileptic seizures. Inferred relationship Some
Epilepsy with only generalised onset epileptic seizures and generalised spike-wave, due to a genetic or presumed genetic aetiology. Is a True A type of epilepsy with only generalised onset epileptic seizures. Inferred relationship Some

This concept is not in any reference sets

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