1208939001: Progressive myoclonic epilepsy type 7 (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du mouvement\Movement disorder\Myoclonic disorder\Myoclonic seizure\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 7
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\crise épileptique\crise convulsive généralisée\Myoclonic seizure\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 7
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\épilepsie tonicoclonique\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 7
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Generalized epilepsy\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 7
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Myoclonic seizure\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 7
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie tonicoclonique\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 7
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 7
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Myoclonic seizure\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 7
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Chronic brain syndrome\Progressive myoclonic epilepsy type 7
• \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\Progressive myoclonic epilepsy type 7
• \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\Progressive myoclonic epilepsy type 7
• \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\Progressive myoclonic epilepsy type 7
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Progressive myoclonic epilepsy type 7
• \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\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 7
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\épilepsie tonicoclonique\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 7
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Generalized epilepsy\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 7
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Myoclonic seizure\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 7
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie tonicoclonique\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 7
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 7
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Myoclonic seizure\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 7
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Chronic brain syndrome\Progressive myoclonic epilepsy type 7
• \affection de la tête\Disorder of brain (disorder)\...
• \trouble convulsif\Epilepsy\épilepsie tonicoclonique\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 7
• \trouble convulsif\Epilepsy\Generalized epilepsy\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 7
• \trouble convulsif\Myoclonic seizure\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 7
• \Chronic brain syndrome\Progressive myoclonic epilepsy type 7
• \Neurological finding\Seizure related finding\convulsion\...
• \crise épileptique\crise convulsive généralisée\Myoclonic seizure\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 7
• \trouble convulsif\Epilepsy\épilepsie tonicoclonique\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 7
• \trouble convulsif\Epilepsy\Generalized epilepsy\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 7
• \trouble convulsif\Myoclonic seizure\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 7
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Progressive myoclonic epilepsy type 7
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Progressive myoclonic epilepsy type 7
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Progressive myoclonic epilepsy type 7
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Progressive myoclonic epilepsy type 7
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Chronic brain syndrome\Progressive myoclonic epilepsy type 7
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Myoclonic disorder\Myoclonic seizure\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 7
• \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\Progressive myoclonic epilepsy type 7
• \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\Progressive myoclonic epilepsy type 7
• \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\Progressive myoclonic epilepsy type 7
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Progressive myoclonic epilepsy type 7
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie tonicoclonique\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 7
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 7
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Myoclonic seizure\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 7
• \Disease\affection de la tête\Disorder of brain (disorder)\Chronic brain syndrome\Progressive myoclonic epilepsy type 7
• \Disease\Movement disorder\Myoclonic disorder\Myoclonic seizure\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 7
• \Disease\maladie chronique\trouble neurologique chronique\Chronic brain syndrome\Progressive myoclonic epilepsy type 7

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5013643014	Progressive myoclonus epilepsy type 7	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5013644015	Progressive myoclonic epilepsy due to KV3.1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5013645019	Progressive myoclonic epilepsy type 7	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5013646018	EPM7 - epilepsy progressive myoclonic 7	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5013647010	Progressive myoclonic epilepsy type 7 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5013648017	A rare genetic neurological disorder with characteristics of childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures and occasionally ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated.	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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