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723125008: Epileptic encephalopathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3334666010 Epileptic encephalopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3334667018 Epileptic encephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5243445018 EE - epileptic encephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5224371018 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5224372013 A type of epilepsy characterized 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 etiology is thought to be the only cause of developmental impairment. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3334666010 Epileptic encephalopathy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3334666010 Epileptic encephalopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3334667018 Epileptic encephalopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3334667018 Epileptic encephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5243445018 EE - epileptic encephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5224371018 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5224372013 A type of epilepsy characterized 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 etiology is thought to be the only cause of developmental impairment. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5485201000241114 encéphalopathie épileptique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5485201000241114 encéphalopathie épileptique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
A type of epilepsy characterized 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 etiology is thought to be the only cause of developmental impairment. Is a Generalized epilepsy false Inferred relationship Existential restriction modifier (core metadata concept)
A type of epilepsy characterized 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 etiology is thought to be the only cause of developmental impairment. 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
A type of epilepsy characterized 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 etiology is thought to be the only cause of developmental impairment. Has definitional manifestation Seizure false Inferred relationship Existential restriction modifier (core metadata concept)
A type of epilepsy characterized 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 etiology is thought to be the only cause of developmental impairment. Is a Neurodevelopmental disorder true Inferred relationship Existential restriction modifier (core metadata concept)
A type of epilepsy characterized 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 etiology is thought to be the only cause of developmental impairment. Is a Epilepsy true Inferred relationship Existential restriction modifier (core metadata concept)
A type of epilepsy characterized 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 etiology is thought to be the only cause of developmental impairment. Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
A type of epilepsy characterized 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 etiology is thought to be the only cause of developmental impairment. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Epileptic encephalopathy with global cerebral demyelination (disorder) Is a False A type of epilepsy characterized 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 etiology is thought to be the only cause of developmental impairment. Inferred relationship Existential restriction modifier (core metadata concept)
Severe myoclonic epilepsy in infancy Is a False A type of epilepsy characterized 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 etiology is thought to be the only cause of developmental impairment. Inferred relationship Existential restriction modifier (core metadata concept)
Infantile epileptic dyskinetic encephalopathy Is a False A type of epilepsy characterized 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 etiology is thought to be the only cause of developmental impairment. Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Is a False A type of epilepsy characterized 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 etiology is thought to be the only cause of developmental impairment. Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic lethal neurometabolic malformation syndrome with characteristics of multiple variable congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanelle, fused metopic suture, upslanted palpebral fissures, over folded helix, depressed nasal bridge, anteverted nose, malar flattening, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed. Caused by mutation in the PIGA gene on chromosome Xp22. Is a False A type of epilepsy characterized 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 etiology is thought to be the only cause of developmental impairment. Inferred relationship Existential restriction modifier (core metadata concept)
Myoclonic epilepsy in non-progressive encephalopathy Is a False A type of epilepsy characterized 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 etiology is thought to be the only cause of developmental impairment. Inferred relationship Existential restriction modifier (core metadata concept)
Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) Is a False A type of epilepsy characterized 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 etiology is thought to be the only cause of developmental impairment. Inferred relationship Existential restriction modifier (core metadata concept)
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a False A type of epilepsy characterized 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 etiology is thought to be the only cause of developmental impairment. Inferred relationship Existential restriction modifier (core metadata concept)
Lennox-Gastaut syndrome (disorder) Is a False A type of epilepsy characterized 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 etiology is thought to be the only cause of developmental impairment. Inferred relationship Existential restriction modifier (core metadata concept)
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) Is a False A type of epilepsy characterized 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 etiology is thought to be the only cause of developmental impairment. Inferred relationship Existential restriction modifier (core metadata concept)
SYNGAP1-related developmental and epileptic encephalopathy Is a False A type of epilepsy characterized 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 etiology is thought to be the only cause of developmental impairment. Inferred relationship Existential restriction modifier (core metadata concept)
Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) Is a False A type of epilepsy characterized 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 etiology is thought to be the only cause of developmental impairment. Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth. Is a False A type of epilepsy characterized 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 etiology is thought to be the only cause of developmental impairment. Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic syndromic neurodevelopmental disorder with characteristics of moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behaviour and stereotypic movements are common. The disorder is caused by bi-allelic intragenic deletions (rarely duplications) or truncating variants in the CNTNAP2 gene (7q35-q36.1). It encodes contactin-associated protein 2 (CASPR2), a transmembrane protein from the neurexin superfamily, which is involved in neural-glia interactions and clustering of potassium channels in myelinated axons. Inheritance is autosomal recessive. Is a False A type of epilepsy characterized 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 etiology is thought to be the only cause of developmental impairment. Inferred relationship Existential restriction modifier (core metadata concept)
A rare congenital disorder of glycosylation caused by mutations in the CAD gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood. Is a False A type of epilepsy characterized 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 etiology is thought to be the only cause of developmental impairment. Inferred relationship Existential restriction modifier (core metadata concept)
Rasmussen syndrome Is a True A type of epilepsy characterized 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 etiology is thought to be the only cause of developmental impairment. Inferred relationship Existential restriction modifier (core metadata concept)
A rare, potentially fatal, epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE) and requires a preceding febrile infection as a mandatory feature. Is a True A type of epilepsy characterized 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 etiology is thought to be the only cause of developmental impairment. Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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