230437002: Severe 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 associated with developmental impairment where the developmental impairment is due to both the underlying etiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.\A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment.
• \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 associated with developmental impairment where the developmental impairment is due to both the underlying etiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.\A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment.
• \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 associated with developmental impairment where the developmental impairment is due to both the underlying etiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.\A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment.
• \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 associated with developmental impairment where the developmental impairment is due to both the underlying etiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.\A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment.
• \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 associated with developmental impairment where the developmental impairment is due to both the underlying etiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.\A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment.
• \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 associated with developmental impairment where the developmental impairment is due to both the underlying etiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.\A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment.
• \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 associated with developmental impairment where the developmental impairment is due to both the underlying etiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.\A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment.
• \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 associated with developmental impairment where the developmental impairment is due to both the underlying etiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.\A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment.
• \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 associated with developmental impairment where the developmental impairment is due to both the underlying etiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.\A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment.
• \Disease\Developmental disorder\Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.\A type of epilepsy associated with developmental impairment where the developmental impairment is due to both the underlying etiology, independent of epileptic activity, and the superimposed epileptic encephalopathy. An epileptic encephalopathy is where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.\A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2006. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5448826015	A rare, genetic, developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5448827012	A rare, genetic, developmental and epileptic encephalopathy characterised by infantile onset of intractable seizures that are often febrile, and associated with cognitive and motor impairment.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
345311015	Severe myoclonic epilepsy in infancy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
618244013	Severe myoclonic epilepsy in infancy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3513043019	Dravet Syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4959301000241116	épilepsie myoclonique sévère dans la petite enfance	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3391331001000115	Dravet-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start