230422001: Epilepsy with myoclonic absence (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only generalised onset epileptic seizures.\Epilepsy with only generalised onset epileptic seizures and generalised spike-wave, due to a genetic or presumed genetic aetiology.\Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalised seizure types which may be seen in this syndrome include generalised tonic-clonic seizures, clonic, atonic and typical absence seizures. Developmental impairment may be present at onset of epilepsy and may become more evident with age. The electroencephalogram shows regular three Hz generalised spike-and-wave pattern time-locked with myoclonic jerks, with a normal background.
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only generalised onset epileptic seizures.\Epilepsy with only generalised onset epileptic seizures and generalised spike-wave, due to a genetic or presumed genetic aetiology.\Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalised seizure types which may be seen in this syndrome include generalised tonic-clonic seizures, clonic, atonic and typical absence seizures. Developmental impairment may be present at onset of epilepsy and may become more evident with age. The electroencephalogram shows regular three Hz generalised spike-and-wave pattern time-locked with myoclonic jerks, with a normal background.
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only generalised onset epileptic seizures.\Epilepsy with only generalised onset epileptic seizures and generalised spike-wave, due to a genetic or presumed genetic aetiology.\Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalised seizure types which may be seen in this syndrome include generalised tonic-clonic seizures, clonic, atonic and typical absence seizures. Developmental impairment may be present at onset of epilepsy and may become more evident with age. The electroencephalogram shows regular three Hz generalised spike-and-wave pattern time-locked with myoclonic jerks, with a normal background.

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only generalised onset epileptic seizures.\Epilepsy with only generalised onset epileptic seizures and generalised spike-wave, due to a genetic or presumed genetic aetiology.\Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalised seizure types which may be seen in this syndrome include generalised tonic-clonic seizures, clonic, atonic and typical absence seizures. Developmental impairment may be present at onset of epilepsy and may become more evident with age. The electroencephalogram shows regular three Hz generalised spike-and-wave pattern time-locked with myoclonic jerks, with a normal background.
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only generalised onset epileptic seizures.\Epilepsy with only generalised onset epileptic seizures and generalised spike-wave, due to a genetic or presumed genetic aetiology.\Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalised seizure types which may be seen in this syndrome include generalised tonic-clonic seizures, clonic, atonic and typical absence seizures. Developmental impairment may be present at onset of epilepsy and may become more evident with age. The electroencephalogram shows regular three Hz generalised spike-and-wave pattern time-locked with myoclonic jerks, with a normal background.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only generalised onset epileptic seizures.\Epilepsy with only generalised onset epileptic seizures and generalised spike-wave, due to a genetic or presumed genetic aetiology.\Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalised seizure types which may be seen in this syndrome include generalised tonic-clonic seizures, clonic, atonic and typical absence seizures. Developmental impairment may be present at onset of epilepsy and may become more evident with age. The electroencephalogram shows regular three Hz generalised spike-and-wave pattern time-locked with myoclonic jerks, with a normal background.

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only generalised onset epileptic seizures.\Epilepsy with only generalised onset epileptic seizures and generalised spike-wave, due to a genetic or presumed genetic aetiology.\Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalised seizure types which may be seen in this syndrome include generalised tonic-clonic seizures, clonic, atonic and typical absence seizures. Developmental impairment may be present at onset of epilepsy and may become more evident with age. The electroencephalogram shows regular three Hz generalised spike-and-wave pattern time-locked with myoclonic jerks, with a normal background.

\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only generalised onset epileptic seizures.\Epilepsy with only generalised onset epileptic seizures and generalised spike-wave, due to a genetic or presumed genetic aetiology.\Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalised seizure types which may be seen in this syndrome include generalised tonic-clonic seizures, clonic, atonic and typical absence seizures. Developmental impairment may be present at onset of epilepsy and may become more evident with age. The electroencephalogram shows regular three Hz generalised spike-and-wave pattern time-locked with myoclonic jerks, with a normal background.
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\A disease of the brain characterized by an enduring predisposition to generate epileptic seizures.\A type of epilepsy with only generalised onset epileptic seizures.\Epilepsy with only generalised onset epileptic seizures and generalised spike-wave, due to a genetic or presumed genetic aetiology.\Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalised seizure types which may be seen in this syndrome include generalised tonic-clonic seizures, clonic, atonic and typical absence seizures. Developmental impairment may be present at onset of epilepsy and may become more evident with age. The electroencephalogram shows regular three Hz generalised spike-and-wave pattern time-locked with myoclonic jerks, with a normal background.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5173087016 Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalised seizure types which may be seen in this syndrome include generalised tonic-clonic seizures, clonic, atonic and typical absence seizures. Developmental impairment may be present at onset of epilepsy and may become more evident with age. The electroencephalogram shows regular three Hz generalised spike-and-wave pattern time-locked with myoclonic jerks, with a normal background. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5173088014 Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalized seizure types which may be seen in this syndrome include generalized tonic-clonic seizures, clonic, atonic and typical absence seizures. Developmental impairment may be present at onset of epilepsy and may become more evident with age. The electroencephalogram shows regular three Hz generalized spike-and-wave pattern time-locked with myoclonic jerks, with a normal background. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

345288017 Myoclonic absence epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5173084011 Epilepsy with myoclonic absence (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5173085012 Epilepsy with myoclonic absence en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5173086013 EMA - epilepsy with myoclonic absence en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4959141000241115 épilepsie avec absences myocloniques fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3434961001000114 Epilepsie mit myoklonischen Absencen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalised seizure types which may be seen in this syndrome include generalised tonic-clonic seizures, clonic, atonic and typical absence seizures. Developmental impairment may be present at onset of epilepsy and may become more evident with age. The electroencephalogram shows regular three Hz generalised spike-and-wave pattern time-locked with myoclonic jerks, with a normal background.	Is a	épilepsie généralisée cryptogénique	false	Inferred relationship	Some
Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalised seizure types which may be seen in this syndrome include generalised tonic-clonic seizures, clonic, atonic and typical absence seizures. Developmental impairment may be present at onset of epilepsy and may become more evident with age. The electroencephalogram shows regular three Hz generalised spike-and-wave pattern time-locked with myoclonic jerks, with a normal background.	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	1
Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalised seizure types which may be seen in this syndrome include generalised tonic-clonic seizures, clonic, atonic and typical absence seizures. Developmental impairment may be present at onset of epilepsy and may become more evident with age. The electroencephalogram shows regular three Hz generalised spike-and-wave pattern time-locked with myoclonic jerks, with a normal background.	Has definitional manifestation	Seizure	false	Inferred relationship	Some
Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalised seizure types which may be seen in this syndrome include generalised tonic-clonic seizures, clonic, atonic and typical absence seizures. Developmental impairment may be present at onset of epilepsy and may become more evident with age. The electroencephalogram shows regular three Hz generalised spike-and-wave pattern time-locked with myoclonic jerks, with a normal background.	Is a	Absence seizures present with a cessation of activity and impaired awareness associated with generalised spike and wave on EEG (electroencephalogram). An absence seizure is a generalised onset seizure and therefore, it originates at some point within, and rapidly engages, bilaterally distributed networks.	false	Inferred relationship	Some
Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalised seizure types which may be seen in this syndrome include generalised tonic-clonic seizures, clonic, atonic and typical absence seizures. Developmental impairment may be present at onset of epilepsy and may become more evident with age. The electroencephalogram shows regular three Hz generalised spike-and-wave pattern time-locked with myoclonic jerks, with a normal background.	Is a	A type of epilepsy with only generalised onset epileptic seizures.	false	Inferred relationship	Some
Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalised seizure types which may be seen in this syndrome include generalised tonic-clonic seizures, clonic, atonic and typical absence seizures. Developmental impairment may be present at onset of epilepsy and may become more evident with age. The electroencephalogram shows regular three Hz generalised spike-and-wave pattern time-locked with myoclonic jerks, with a normal background.	Is a	An absence seizure with rhythmic ratcheting abduction of the upper limbs leading to progressive arm elevation and associated with three-per-second generalized spike-wave discharges.	false	Inferred relationship	Some
Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalised seizure types which may be seen in this syndrome include generalised tonic-clonic seizures, clonic, atonic and typical absence seizures. Developmental impairment may be present at onset of epilepsy and may become more evident with age. The electroencephalogram shows regular three Hz generalised spike-and-wave pattern time-locked with myoclonic jerks, with a normal background.	Is a	Epilepsy with only generalised onset epileptic seizures and generalised spike-wave, due to a genetic or presumed genetic aetiology.	true	Inferred relationship	Some
Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalised seizure types which may be seen in this syndrome include generalised tonic-clonic seizures, clonic, atonic and typical absence seizures. Developmental impairment may be present at onset of epilepsy and may become more evident with age. The electroencephalogram shows regular three Hz generalised spike-and-wave pattern time-locked with myoclonic jerks, with a normal background.	Occurrence	Childhood	true	Inferred relationship	Some	1
Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalised seizure types which may be seen in this syndrome include generalised tonic-clonic seizures, clonic, atonic and typical absence seizures. Developmental impairment may be present at onset of epilepsy and may become more evident with age. The electroencephalogram shows regular three Hz generalised spike-and-wave pattern time-locked with myoclonic jerks, with a normal background.	Finding site	Brain structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.	Is a	False	Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalised seizure types which may be seen in this syndrome include generalised tonic-clonic seizures, clonic, atonic and typical absence seizures. Developmental impairment may be present at onset of epilepsy and may become more evident with age. The electroencephalogram shows regular three Hz generalised spike-and-wave pattern time-locked with myoclonic jerks, with a normal background.	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
5173087016	Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalised seizure types which may be seen in this syndrome include generalised tonic-clonic seizures, clonic, atonic and typical absence seizures. Developmental impairment may be present at onset of epilepsy and may become more evident with age. The electroencephalogram shows regular three Hz generalised spike-and-wave pattern time-locked with myoclonic jerks, with a normal background.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5173088014	Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalized seizure types which may be seen in this syndrome include generalized tonic-clonic seizures, clonic, atonic and typical absence seizures. Developmental impairment may be present at onset of epilepsy and may become more evident with age. The electroencephalogram shows regular three Hz generalized spike-and-wave pattern time-locked with myoclonic jerks, with a normal background.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
345288017	Myoclonic absence epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5173084011	Epilepsy with myoclonic absence (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5173085012	Epilepsy with myoclonic absence	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5173086013	EMA - epilepsy with myoclonic absence	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4959141000241115	épilepsie avec absences myocloniques	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3434961001000114	Epilepsie mit myoklonischen Absencen	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module