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

4959001000241119 épilepsie myoclonique de la petite enfance fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
épilepsie myoclonique de la petite enfance	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
épilepsie myoclonique de la petite enfance	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
épilepsie myoclonique de la petite enfance	Occurrence	Childhood	false	Inferred relationship	Some	1
épilepsie myoclonique de la petite enfance	Has definitional manifestation	Seizure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment.	Is a	False	épilepsie myoclonique de la petite enfance	Inferred relationship	Some

Reference Sets

POSSIBLY REPLACED BY association reference set (foundation metadata concept)

Concept inactivation indicator reference set