716278005: Epilepsy with eyelid myoclonia (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.\A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalized tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalized spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, 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.\A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalized tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalized spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, 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.\A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalized tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalized spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, 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.\A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalized tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalized spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, 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.\A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalized tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalized spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, 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.\A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalized tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalized spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, 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.\A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalized tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalized spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, 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.\A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalized tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalized spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, 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.\A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalized tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalized spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, with a normal background.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5232445013 A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalized tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalized spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, with a normal background. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5232446014 A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalised tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalised spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, with a normal background. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3305371019 Jeavons syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5173082010 Epilepsy with eyelid myoclonia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5173083017 Epilepsy with eyelid myoclonia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5173091014 EEM - epilepsy with eyelid myoclonia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

889921000172111 EMEA - eyelid myoclonia with and without absences fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1011451000172111 syndrome de Jeavons fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2299671000195117 EEM - Epilepsie mit Augenlidmyoklonie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3389561001000117 Jeavons-Syndrom 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
A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalized tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalized spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, with a normal background.	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
A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalized tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalized spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, with a normal background.	Is a	Reflex epilepsy	false	Inferred relationship	Some
A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalized tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalized spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, 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
A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalized tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalized spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, with a normal background.	Has definitional manifestation	Seizure	false	Inferred relationship	Some
A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalized tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalized spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, 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
A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalized tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalized spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, with a normal background.	Finding site	Brain structure	true	Inferred relationship	Some	1

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Id	Description	Lang	Type	Status	Case?	Module
5232445013	A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalized tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalized spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, with a normal background.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5232446014	A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalised tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalised spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, with a normal background.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3305371019	Jeavons syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5173082010	Epilepsy with eyelid myoclonia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5173083017	Epilepsy with eyelid myoclonia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5173091014	EEM - epilepsy with eyelid myoclonia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
889921000172111	EMEA - eyelid myoclonia with and without absences	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1011451000172111	syndrome de Jeavons	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2299671000195117	EEM - Epilepsie mit Augenlidmyoklonie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3389561001000117	Jeavons-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module