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230437002: Severe myoclonic epilepsy in infancy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2006. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
345311015 Severe myoclonic epilepsy in infancy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
618244013 Severe myoclonic epilepsy in infancy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3513043019 Dravet Syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3513044013 A genetic epilepsy of childhood with characteristics of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Seizures can regress in adulthood but most patients have ongoing seizures that are refractory to medication. Around 85% of cases are due to a mutation or deletion in the SCN1A gene (2q24.3), encoding a voltage-gated sodium channel essential for the excitability of neurons. In families with a known SCN1A mutation, inheritance is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
345311015 Severe myoclonic epilepsy in infancy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
345311015 Severe myoclonic epilepsy in infancy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
618244013 Severe myoclonic epilepsy in infancy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
618244013 Severe myoclonic epilepsy in infancy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3513043019 Dravet Syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3513044013 A genetic epilepsy of childhood with characteristics of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Seizures can regress in adulthood but most patients have ongoing seizures that are refractory to medication. Around 85% of cases are due to a mutation or deletion in the SCN1A gene (2q24.3), encoding a voltage-gated sodium channel essential for the excitability of neurons. In families with a known SCN1A mutation, inheritance is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3391331001000115 Dravet-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4959301000241116 épilepsie myoclonique sévère dans la petite enfance fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4959301000241116 épilepsie myoclonique sévère dans la petite enfance fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3391331001000115 Dravet-Syndrom 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
Severe myoclonic epilepsy in infancy Is a Epilepsy undetermined whether focal or generalized false Inferred relationship Existential restriction modifier (core metadata concept)
Severe myoclonic epilepsy in infancy Severity Severe false Inferred relationship Existential restriction modifier (core metadata concept)
Severe myoclonic epilepsy in infancy 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)
Severe myoclonic epilepsy in infancy Is a épilepsie myoclonique de la petite enfance false Inferred relationship Existential restriction modifier (core metadata concept)
Severe myoclonic epilepsy in infancy Occurrence Childhood false Inferred relationship Existential restriction modifier (core metadata concept)
Severe myoclonic epilepsy in infancy Occurrence Infancy false Inferred relationship Existential restriction modifier (core metadata concept)
Severe myoclonic epilepsy in infancy Has definitional manifestation Seizure false Inferred relationship Existential restriction modifier (core metadata concept)
Severe myoclonic epilepsy in infancy Is a Refractory myoclonic epilepsy false Inferred relationship Existential restriction modifier (core metadata concept)
Severe myoclonic epilepsy in infancy Is a 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. false Inferred relationship Existential restriction modifier (core metadata concept)
Severe myoclonic epilepsy in infancy Occurrence Infancy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Severe myoclonic epilepsy in infancy 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
Severe myoclonic epilepsy in infancy Interprets Movement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe myoclonic epilepsy in infancy Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Severe myoclonic epilepsy in infancy Is a Developmental and epileptic encephalopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Severe myoclonic epilepsy in infancy 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

This concept is not in any reference sets

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