230412007: Myoclonic epilepsy of early childhood (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

345274016 Myoclonic epilepsy of early childhood en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

618216012 Myoclonic epilepsy of early childhood (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1671731000005114 myoklon epilepsi i den tidlige barndom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
myoklon epilepsi i den tidlige barndom	Is a	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.	false	Inferred relationship	Some
myoklon epilepsi i den tidlige barndom	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	2
myoklon epilepsi i den tidlige barndom	Occurrence	Childhood	false	Inferred relationship	Some	1
myoklon epilepsi i den tidlige barndom	Has definitional manifestation	Seizure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
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.	Is a	False	myoklon epilepsi i den tidlige barndom	Inferred relationship	Some

Reference Sets

POSSIBLY REPLACED BY association reference set (foundation metadata concept)

Concept inactivation indicator reference set