192990004: Myoclonic epilepsy in infancy (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 with myoclonic epileptic seizures between 4 months and 3 years of age, in an otherwise normal infant. The myoclonic epileptic seizures may be activated by sudden noise, startle, or touch, and less commonly by photic stimulation. The electroencephalogram must capture generalised epileptiform discharges or myoclonic epileptic seizures and have 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 with myoclonic epileptic seizures between 4 months and 3 years of age, in an otherwise normal infant. The myoclonic epileptic seizures may be activated by sudden noise, startle, or touch, and less commonly by photic stimulation. The electroencephalogram must capture generalised epileptiform discharges or myoclonic epileptic seizures and have 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 with myoclonic epileptic seizures between 4 months and 3 years of age, in an otherwise normal infant. The myoclonic epileptic seizures may be activated by sudden noise, startle, or touch, and less commonly by photic stimulation. The electroencephalogram must capture generalised epileptiform discharges or myoclonic epileptic seizures and have 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 with myoclonic epileptic seizures between 4 months and 3 years of age, in an otherwise normal infant. The myoclonic epileptic seizures may be activated by sudden noise, startle, or touch, and less commonly by photic stimulation. The electroencephalogram must capture generalised epileptiform discharges or myoclonic epileptic seizures and have 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 with myoclonic epileptic seizures between 4 months and 3 years of age, in an otherwise normal infant. The myoclonic epileptic seizures may be activated by sudden noise, startle, or touch, and less commonly by photic stimulation. The electroencephalogram must capture generalised epileptiform discharges or myoclonic epileptic seizures and have 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 with myoclonic epileptic seizures between 4 months and 3 years of age, in an otherwise normal infant. The myoclonic epileptic seizures may be activated by sudden noise, startle, or touch, and less commonly by photic stimulation. The electroencephalogram must capture generalised epileptiform discharges or myoclonic epileptic seizures and have 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 with myoclonic epileptic seizures between 4 months and 3 years of age, in an otherwise normal infant. The myoclonic epileptic seizures may be activated by sudden noise, startle, or touch, and less commonly by photic stimulation. The electroencephalogram must capture generalised epileptiform discharges or myoclonic epileptic seizures and have 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 with myoclonic epileptic seizures between 4 months and 3 years of age, in an otherwise normal infant. The myoclonic epileptic seizures may be activated by sudden noise, startle, or touch, and less commonly by photic stimulation. The electroencephalogram must capture generalised epileptiform discharges or myoclonic epileptic seizures and have 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 with myoclonic epileptic seizures between 4 months and 3 years of age, in an otherwise normal infant. The myoclonic epileptic seizures may be activated by sudden noise, startle, or touch, and less commonly by photic stimulation. The electroencephalogram must capture generalised epileptiform discharges or myoclonic epileptic seizures and have 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

5168704018 A type of epilepsy that presents with myoclonic epileptic seizures between 4 months and 3 years of age, in an otherwise normal infant. The myoclonic epileptic seizures may be activated by sudden noise, startle, or touch, and less commonly by photic stimulation. The electroencephalogram must capture generalized epileptiform discharges or myoclonic epileptic seizures and have a normal background. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5168705017 A type of epilepsy that presents with myoclonic epileptic seizures between 4 months and 3 years of age, in an otherwise normal infant. The myoclonic epileptic seizures may be activated by sudden noise, startle, or touch, and less commonly by photic stimulation. The electroencephalogram must capture generalised epileptiform discharges or myoclonic epileptic seizures and have a normal background. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

297280011 Benign myoclonic epilepsy in infancy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5168701014 Myoclonic epilepsy in infancy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5168702019 Myoclonic epilepsy in infancy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5168703012 MEI - myoclonic epilepsy in infancy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5643291000241113 épilepsie myoclonique du nourrisson fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3432181001000112 Myoklonusepilepsie des Kindesalters 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 between 4 months and 3 years of age, in an otherwise normal infant. The myoclonic epileptic seizures may be activated by sudden noise, startle, or touch, and less commonly by photic stimulation. The electroencephalogram must capture generalised epileptiform discharges or myoclonic epileptic seizures and have 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 with myoclonic epileptic seizures between 4 months and 3 years of age, in an otherwise normal infant. The myoclonic epileptic seizures may be activated by sudden noise, startle, or touch, and less commonly by photic stimulation. The electroencephalogram must capture generalised epileptiform discharges or myoclonic epileptic seizures and have 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 between 4 months and 3 years of age, in an otherwise normal infant. The myoclonic epileptic seizures may be activated by sudden noise, startle, or touch, and less commonly by photic stimulation. The electroencephalogram must capture generalised epileptiform discharges or myoclonic epileptic seizures and have a normal background.	Has definitional manifestation	Seizure	false	Inferred relationship	Some
A type of epilepsy that presents with myoclonic epileptic seizures between 4 months and 3 years of age, in an otherwise normal infant. The myoclonic epileptic seizures may be activated by sudden noise, startle, or touch, and less commonly by photic stimulation. The electroencephalogram must capture generalised epileptiform discharges or myoclonic epileptic seizures and have 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 with myoclonic epileptic seizures between 4 months and 3 years of age, in an otherwise normal infant. The myoclonic epileptic seizures may be activated by sudden noise, startle, or touch, and less commonly by photic stimulation. The electroencephalogram must capture generalised epileptiform discharges or myoclonic epileptic seizures and have a normal background.	Finding site	Brain structure	true	Inferred relationship	Some	1

Inbound Relationships

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Source

Characteristic

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This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5168704018	A type of epilepsy that presents with myoclonic epileptic seizures between 4 months and 3 years of age, in an otherwise normal infant. The myoclonic epileptic seizures may be activated by sudden noise, startle, or touch, and less commonly by photic stimulation. The electroencephalogram must capture generalized epileptiform discharges or myoclonic epileptic seizures and have a normal background.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5168705017	A type of epilepsy that presents with myoclonic epileptic seizures between 4 months and 3 years of age, in an otherwise normal infant. The myoclonic epileptic seizures may be activated by sudden noise, startle, or touch, and less commonly by photic stimulation. The electroencephalogram must capture generalised epileptiform discharges or myoclonic epileptic seizures and have a normal background.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
297280011	Benign myoclonic epilepsy in infancy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5168701014	Myoclonic epilepsy in infancy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5168702019	Myoclonic epilepsy in infancy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5168703012	MEI - myoclonic epilepsy in infancy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5643291000241113	épilepsie myoclonique du nourrisson	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3432181001000112	Myoklonusepilepsie des Kindesalters	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module