6204001: Juvenile myoclonic epilepsy (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 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.\A type of epilepsy that presents with myoclonic epileptic seizures, usually between 10 and 24 years of age, in an otherwise normal adolescent or adult. Generalized tonic-clonic seizures occur in greater than 90 percent of individuals and absence seizures occur in a third. Seizures typically occur shortly after waking and when tired. Sleep deprivation is an important provoking factor. Photosensitivity is common. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave and polyspike-wave and 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 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.\A type of epilepsy that presents with myoclonic epileptic seizures, usually between 10 and 24 years of age, in an otherwise normal adolescent or adult. Generalized tonic-clonic seizures occur in greater than 90 percent of individuals and absence seizures occur in a third. Seizures typically occur shortly after waking and when tired. Sleep deprivation is an important provoking factor. Photosensitivity is common. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave and polyspike-wave and 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 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.\A type of epilepsy that presents with myoclonic epileptic seizures, usually between 10 and 24 years of age, in an otherwise normal adolescent or adult. Generalized tonic-clonic seizures occur in greater than 90 percent of individuals and absence seizures occur in a third. Seizures typically occur shortly after waking and when tired. Sleep deprivation is an important provoking factor. Photosensitivity is common. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave and polyspike-wave and 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 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.\A type of epilepsy that presents with myoclonic epileptic seizures, usually between 10 and 24 years of age, in an otherwise normal adolescent or adult. Generalized tonic-clonic seizures occur in greater than 90 percent of individuals and absence seizures occur in a third. Seizures typically occur shortly after waking and when tired. Sleep deprivation is an important provoking factor. Photosensitivity is common. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave and polyspike-wave and 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 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.\A type of epilepsy that presents with myoclonic epileptic seizures, usually between 10 and 24 years of age, in an otherwise normal adolescent or adult. Generalized tonic-clonic seizures occur in greater than 90 percent of individuals and absence seizures occur in a third. Seizures typically occur shortly after waking and when tired. Sleep deprivation is an important provoking factor. Photosensitivity is common. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave and polyspike-wave and 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 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.\A type of epilepsy that presents with myoclonic epileptic seizures, usually between 10 and 24 years of age, in an otherwise normal adolescent or adult. Generalized tonic-clonic seizures occur in greater than 90 percent of individuals and absence seizures occur in a third. Seizures typically occur shortly after waking and when tired. Sleep deprivation is an important provoking factor. Photosensitivity is common. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave and polyspike-wave and 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 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.\A type of epilepsy that presents with myoclonic epileptic seizures, usually between 10 and 24 years of age, in an otherwise normal adolescent or adult. Generalized tonic-clonic seizures occur in greater than 90 percent of individuals and absence seizures occur in a third. Seizures typically occur shortly after waking and when tired. Sleep deprivation is an important provoking factor. Photosensitivity is common. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave and polyspike-wave and 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 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.\A type of epilepsy that presents with myoclonic epileptic seizures, usually between 10 and 24 years of age, in an otherwise normal adolescent or adult. Generalized tonic-clonic seizures occur in greater than 90 percent of individuals and absence seizures occur in a third. Seizures typically occur shortly after waking and when tired. Sleep deprivation is an important provoking factor. Photosensitivity is common. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave and polyspike-wave and 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 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.\A type of epilepsy that presents with myoclonic epileptic seizures, usually between 10 and 24 years of age, in an otherwise normal adolescent or adult. Generalized tonic-clonic seizures occur in greater than 90 percent of individuals and absence seizures occur in a third. Seizures typically occur shortly after waking and when tired. Sleep deprivation is an important provoking factor. Photosensitivity is common. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave and polyspike-wave and 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

5232443018 A type of epilepsy that presents with myoclonic epileptic seizures, usually between 10 and 24 years of age, in an otherwise normal adolescent or adult. Generalized tonic-clonic seizures occur in greater than 90 percent of individuals and absence seizures occur in a third. Seizures typically occur shortly after waking and when tired. Sleep deprivation is an important provoking factor. Photosensitivity is common. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave and polyspike-wave and a normal background. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5232444012 A type of epilepsy that presents with myoclonic epileptic seizures, usually between 10 and 24 years of age, in an otherwise normal adolescent or adult. Generalised tonic-clonic seizures occur in greater than 90 percent of individuals and absence seizures occur in a third. Seizures typically occur shortly after waking and when tired. Sleep deprivation is an important provoking factor. Photosensitivity is common. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalised spike-wave and polyspike-wave and a normal background. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

11300012 Juvenile myoclonic epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

801169016 Juvenile myoclonic epilepsy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1232274015 JME - Juvenile myoclonic epilepsy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

161431000172112 épilepsie myoclonique juvénile fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

385001000172118 EMJ - épilepsie myoclonique juvénile fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3412861001000117 Myoklonusepilepsie, juvenile 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 with myoclonic epileptic seizures, usually between 10 and 24 years of age, in an otherwise normal adolescent or adult. Generalized tonic-clonic seizures occur in greater than 90 percent of individuals and absence seizures occur in a third. Seizures typically occur shortly after waking and when tired. Sleep deprivation is an important provoking factor. Photosensitivity is common. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave and polyspike-wave and a normal background.	Is a	Myoclonic seizure	false	Inferred relationship	Some
A type of epilepsy that presents with myoclonic epileptic seizures, usually between 10 and 24 years of age, in an otherwise normal adolescent or adult. Generalized tonic-clonic seizures occur in greater than 90 percent of individuals and absence seizures occur in a third. Seizures typically occur shortly after waking and when tired. Sleep deprivation is an important provoking factor. Photosensitivity is common. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave and polyspike-wave and 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.	true	Inferred relationship	Some
A type of epilepsy that presents with myoclonic epileptic seizures, usually between 10 and 24 years of age, in an otherwise normal adolescent or adult. Generalized tonic-clonic seizures occur in greater than 90 percent of individuals and absence seizures occur in a third. Seizures typically occur shortly after waking and when tired. Sleep deprivation is an important provoking factor. Photosensitivity is common. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave and polyspike-wave and a normal background.	Finding site	Muscle tissue	false	Inferred relationship	Some
A type of epilepsy that presents with myoclonic epileptic seizures, usually between 10 and 24 years of age, in an otherwise normal adolescent or adult. Generalized tonic-clonic seizures occur in greater than 90 percent of individuals and absence seizures occur in a third. Seizures typically occur shortly after waking and when tired. Sleep deprivation is an important provoking factor. Photosensitivity is common. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave and polyspike-wave and 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 with myoclonic epileptic seizures, usually between 10 and 24 years of age, in an otherwise normal adolescent or adult. Generalized tonic-clonic seizures occur in greater than 90 percent of individuals and absence seizures occur in a third. Seizures typically occur shortly after waking and when tired. Sleep deprivation is an important provoking factor. Photosensitivity is common. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave and polyspike-wave and a normal background.	Has definitional manifestation	Seizure	false	Inferred relationship	Some
A type of epilepsy that presents with myoclonic epileptic seizures, usually between 10 and 24 years of age, in an otherwise normal adolescent or adult. Generalized tonic-clonic seizures occur in greater than 90 percent of individuals and absence seizures occur in a third. Seizures typically occur shortly after waking and when tired. Sleep deprivation is an important provoking factor. Photosensitivity is common. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave and polyspike-wave and a normal background.	Finding site	Skeletal and/or smooth muscle structure (body structure)	false	Inferred relationship	Some
A type of epilepsy that presents with myoclonic epileptic seizures, usually between 10 and 24 years of age, in an otherwise normal adolescent or adult. Generalized tonic-clonic seizures occur in greater than 90 percent of individuals and absence seizures occur in a third. Seizures typically occur shortly after waking and when tired. Sleep deprivation is an important provoking factor. Photosensitivity is common. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave and polyspike-wave and a normal background.	Interprets	mouvement	false	Inferred relationship	Some	2
A type of epilepsy that presents with myoclonic epileptic seizures, usually between 10 and 24 years of age, in an otherwise normal adolescent or adult. Generalized tonic-clonic seizures occur in greater than 90 percent of individuals and absence seizures occur in a third. Seizures typically occur shortly after waking and when tired. Sleep deprivation is an important provoking factor. Photosensitivity is common. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave and polyspike-wave and a normal background.	Finding site	Brain structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Refractory juvenile myoclonic epilepsy	Is a	False	A type of epilepsy that presents with myoclonic epileptic seizures, usually between 10 and 24 years of age, in an otherwise normal adolescent or adult. Generalized tonic-clonic seizures occur in greater than 90 percent of individuals and absence seizures occur in a third. Seizures typically occur shortly after waking and when tired. Sleep deprivation is an important provoking factor. Photosensitivity is common. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave and polyspike-wave and a normal background.	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5232443018	A type of epilepsy that presents with myoclonic epileptic seizures, usually between 10 and 24 years of age, in an otherwise normal adolescent or adult. Generalized tonic-clonic seizures occur in greater than 90 percent of individuals and absence seizures occur in a third. Seizures typically occur shortly after waking and when tired. Sleep deprivation is an important provoking factor. Photosensitivity is common. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalized spike-wave and polyspike-wave and a normal background.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5232444012	A type of epilepsy that presents with myoclonic epileptic seizures, usually between 10 and 24 years of age, in an otherwise normal adolescent or adult. Generalised tonic-clonic seizures occur in greater than 90 percent of individuals and absence seizures occur in a third. Seizures typically occur shortly after waking and when tired. Sleep deprivation is an important provoking factor. Photosensitivity is common. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram shows 3 to 5.5 Hz generalised spike-wave and polyspike-wave and a normal background.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
11300012	Juvenile myoclonic epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
801169016	Juvenile myoclonic epilepsy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1232274015	JME - Juvenile myoclonic epilepsy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
161431000172112	épilepsie myoclonique juvénile	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
385001000172118	EMJ - épilepsie myoclonique juvénile	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3412861001000117	Myoklonusepilepsie, juvenile	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module