230437002: Severe myoclonic epilepsy in infancy (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du mouvement\Movement disorder\Myoclonic disorder\Myoclonic seizure\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\crise épileptique\crise convulsive généralisée\Myoclonic seizure\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\épilepsie réfractaire\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Severe myoclonic epilepsy in infancy
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Generalized epilepsy\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Myoclonic seizure\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie réfractaire\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Severe myoclonic epilepsy in infancy
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Myoclonic seizure\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie réfractaire\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Severe myoclonic epilepsy in infancy
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Myoclonic seizure\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\convulsion\crise épileptique\crise convulsive généralisée\Myoclonic seizure\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\épilepsie réfractaire\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Severe myoclonic epilepsy in infancy
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Generalized epilepsy\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Myoclonic seizure\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie réfractaire\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Severe myoclonic epilepsy in infancy
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Myoclonic seizure\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \affection de la tête\Disorder of brain (disorder)\trouble convulsif\...
• \Epilepsy\épilepsie réfractaire\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Severe myoclonic epilepsy in infancy
• \Epilepsy\Generalized epilepsy\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \Myoclonic seizure\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \Neurological finding\Seizure related finding\convulsion\...
• \crise épileptique\crise convulsive généralisée\Myoclonic seizure\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \trouble convulsif\Epilepsy\épilepsie réfractaire\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \trouble convulsif\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Severe myoclonic epilepsy in infancy
• \trouble convulsif\Epilepsy\Generalized epilepsy\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \trouble convulsif\Myoclonic seizure\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Myoclonic disorder\Myoclonic seizure\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie réfractaire\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Severe myoclonic epilepsy in infancy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Myoclonic seizure\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie réfractaire\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\Epileptic encephalopathy (disorder)\Severe myoclonic epilepsy in infancy
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Myoclonic seizure\Refractory myoclonic epilepsy (disorder)\Severe myoclonic epilepsy in infancy
• \Disease\Movement disorder\Myoclonic disorder\Myoclonic seizure\Refractory myoclonic epilepsy (disorder)\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
3513043019	Dravet Syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (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
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

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Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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