230437002: Severe myoclonic epilepsy in infancy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Severe myoclonic epilepsy in infancy
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Severe myoclonic epilepsy in infancy
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Severe myoclonic epilepsy in infancy
• \Finding of head and neck region\Head finding (finding)\...
• \Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Severe myoclonic epilepsy in infancy
• \Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Severe myoclonic epilepsy in infancy
• \Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Severe myoclonic epilepsy in infancy
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Severe myoclonic epilepsy in infancy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Severe myoclonic epilepsy in infancy
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Severe myoclonic epilepsy in infancy
• \Disease\Developmental disorder\Neurodevelopmental disorder\Developmental and epileptic encephalopathy\Severe myoclonic epilepsy in infancy

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
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
3513044013	A genetic epilepsy of childhood with characteristics of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Seizures can regress in adulthood but most patients have ongoing seizures that are refractory to medication. Around 85% of cases are due to a mutation or deletion in the SCN1A gene (2q24.3), encoding a voltage-gated sodium channel essential for the excitability of neurons. In families with a known SCN1A mutation, inheritance is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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