192992007: Epileptic seizures - myoclonic (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

297283013 Epileptic seizures - myoclonic en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

576831017 Epileptic seizures - myoclonic (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1457701000005112 epileptiske anfald – myoklone 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
epileptiske anfald – myoklone	Is a	A mitochondrial encephalomyopathy with characteristics of myoclonic seizures. Patients usually present during adolescence or early adulthood with myoclonic epilepsy, sometimes with neurosensory deafness, optic atrophy, short stature or peripheral neuropathy. The disease is progressive with worsening of the epilepsy and onset of additional symptoms including ataxia, deafness, muscle weakness, and dementia. Caused by mutations in the mitochondrial DNA.	false	Inferred relationship	Some
epileptiske anfald – myoklone	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
epileptiske anfald – myoklone	Finding site	Skeletal muscle structure	false	Inferred relationship	Some
epileptiske anfald – myoklone	Occurrence	Congenital	false	Inferred relationship	Some
epileptiske anfald – myoklone	Has definitional manifestation	Seizure	false	Inferred relationship	Some

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Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)