733082001: maladie à corps de Lafora à début précoce (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du mouvement\Movement disorder\Myoclonic disorder\Myoclonic seizure\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\Childhood seizure (finding)\Early-onset Lafora body disease (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\crise épileptique\crise convulsive généralisée\Myoclonic seizure\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\épilepsie tonicoclonique\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Generalized epilepsy\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Myoclonic seizure\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie tonicoclonique\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Myoclonic seizure\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie tonicoclonique\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Myoclonic seizure\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\convulsion\Childhood seizure (finding)\Early-onset Lafora body disease (disorder)
• \constatation à propos l'encéphale\convulsion\crise épileptique\crise convulsive généralisée\Myoclonic seizure\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\épilepsie tonicoclonique\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Generalized epilepsy\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Myoclonic seizure\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie tonicoclonique\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Myoclonic seizure\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \affection de la tête\Disorder of brain (disorder)\trouble convulsif\...
• \Epilepsy\épilepsie tonicoclonique\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \Epilepsy\Generalized epilepsy\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \Myoclonic seizure\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \Neurological finding\Seizure related finding\convulsion\...
• \Childhood seizure (finding)\Early-onset Lafora body disease (disorder)
• \crise épileptique\crise convulsive généralisée\Myoclonic seizure\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \trouble convulsif\Epilepsy\épilepsie tonicoclonique\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \trouble convulsif\Epilepsy\Generalized epilepsy\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \trouble convulsif\Myoclonic seizure\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Early-onset Lafora body disease (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Early-onset Lafora body disease (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Early-onset Lafora body disease (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Early-onset Lafora body disease (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Myoclonic disorder\Myoclonic seizure\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \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 tonicoclonique\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \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\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \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\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie tonicoclonique\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Myoclonic seizure\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)
• \Disease\Movement disorder\Myoclonic disorder\Myoclonic seizure\épilepsie myoclonique progressive\Early-onset Lafora body disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3498694013	Early-onset Lafora body disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3498695014	Early-onset Lafora body disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
762891000241118	maladie à corps de Lafora à début précoce (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
925381000172110	maladie à corps de Lafora à début précoce	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3499961016	An extremely rare inherited form of progressive myoclonic epilepsy with characteristics of progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades. There is evidence the disease is caused by homozygous mutation in the PRDM8 gene on chromosome 4q21.	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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