783064000: Progressive myoclonic epilepsy type 3 (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du mouvement\Movement disorder\Myoclonic disorder\Myoclonic seizure\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 3
• \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 3
• \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 3
• \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 3
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Myoclonic seizure\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 3
• \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 3
• \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 3
• \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 3
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Chronic brain syndrome\Progressive myoclonic epilepsy type 3
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Progressive myoclonic epilepsy type 3
• \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 3
• \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 3
• \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 3
• \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 3
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Progressive myoclonic epilepsy type 3
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Progressive myoclonic epilepsy type 3
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebral degeneration (disorder)\Progressive myoclonic epilepsy type 3
• \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 3
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\épilepsie tonicoclonique\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 3
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Generalized epilepsy\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 3
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Myoclonic seizure\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 3
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie tonicoclonique\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 3
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 3
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Myoclonic seizure\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 3
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Chronic brain syndrome\Progressive myoclonic epilepsy type 3
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Progressive myoclonic epilepsy type 3
• \affection de la tête\Disorder of brain (disorder)\...
• \trouble convulsif\Epilepsy\épilepsie tonicoclonique\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 3
• \trouble convulsif\Epilepsy\Generalized epilepsy\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 3
• \trouble convulsif\Myoclonic seizure\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 3
• \Chronic brain syndrome\Progressive myoclonic epilepsy type 3
• \Degenerative brain disorder\Cerebral degeneration (disorder)\Progressive myoclonic epilepsy type 3
• \Neurological finding\Seizure related finding\convulsion\...
• \crise épileptique\crise convulsive généralisée\Myoclonic seizure\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 3
• \trouble convulsif\Epilepsy\épilepsie tonicoclonique\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 3
• \trouble convulsif\Epilepsy\Generalized epilepsy\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 3
• \trouble convulsif\Myoclonic seizure\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 3
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\céroïde-lipofuscinose neuronale\céroïde-lipofuscinose neuronale infantile (trouble)\Progressive myoclonic epilepsy type 3
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Progressive myoclonic epilepsy type 3
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited metabolic disorder of nervous system\céroïde-lipofuscinose neuronale\céroïde-lipofuscinose neuronale infantile (trouble)\Progressive myoclonic epilepsy type 3
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipofuscinosis\céroïde-lipofuscinose neuronale\céroïde-lipofuscinose neuronale infantile (trouble)\Progressive myoclonic epilepsy type 3
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Progressive myoclonic epilepsy type 3
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Progressive myoclonic epilepsy type 3
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebral degeneration (disorder)\Progressive myoclonic epilepsy type 3
• \Disease\affection dégénérative\céroïde-lipofuscinose neuronale\céroïde-lipofuscinose neuronale infantile (trouble)\Progressive myoclonic epilepsy type 3
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\céroïde-lipofuscinose neuronale\céroïde-lipofuscinose neuronale infantile (trouble)\Progressive myoclonic epilepsy type 3
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Progressive myoclonic epilepsy type 3
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\céroïde-lipofuscinose neuronale\céroïde-lipofuscinose neuronale infantile (trouble)\Progressive myoclonic epilepsy type 3
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Progressive myoclonic epilepsy type 3
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Chronic brain syndrome\Progressive myoclonic epilepsy type 3
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Myoclonic disorder\Myoclonic seizure\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 3
• \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 3
• \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 3
• \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 3
• \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 3
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Progressive myoclonic epilepsy type 3
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Progressive myoclonic epilepsy type 3
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebral degeneration (disorder)\Progressive myoclonic epilepsy type 3
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\épilepsie tonicoclonique\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 3
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Generalized epilepsy\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 3
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Myoclonic seizure\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 3
• \Disease\affection de la tête\Disorder of brain (disorder)\Chronic brain syndrome\Progressive myoclonic epilepsy type 3
• \Disease\affection de la tête\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Progressive myoclonic epilepsy type 3
• \Disease\trouble métabolique\Chronic metabolic disorder\Progressive myoclonic epilepsy type 3
• \Disease\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\céroïde-lipofuscinose neuronale\céroïde-lipofuscinose neuronale infantile (trouble)\Progressive myoclonic epilepsy type 3
• \Disease\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipofuscinosis\céroïde-lipofuscinose neuronale\céroïde-lipofuscinose neuronale infantile (trouble)\Progressive myoclonic epilepsy type 3
• \Disease\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\Lipofuscinosis\céroïde-lipofuscinose neuronale\céroïde-lipofuscinose neuronale infantile (trouble)\Progressive myoclonic epilepsy type 3
• \Disease\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Lipofuscinosis\céroïde-lipofuscinose neuronale\céroïde-lipofuscinose neuronale infantile (trouble)\Progressive myoclonic epilepsy type 3
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\céroïde-lipofuscinose neuronale\céroïde-lipofuscinose neuronale infantile (trouble)\Progressive myoclonic epilepsy type 3
• \Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipofuscinosis\céroïde-lipofuscinose neuronale\céroïde-lipofuscinose neuronale infantile (trouble)\Progressive myoclonic epilepsy type 3
• \Disease\Movement disorder\Myoclonic disorder\Myoclonic seizure\épilepsie myoclonique progressive\Progressive myoclonic epilepsy type 3
• \Disease\maladie chronique\Chronic metabolic disorder\Progressive myoclonic epilepsy type 3
• \Disease\maladie chronique\trouble neurologique chronique\Chronic brain syndrome\Progressive myoclonic epilepsy type 3

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3757310011	Progressive myoclonic epilepsy due to KCTD7 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3757311010	Progressive myoclonus epilepsy type 3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3757312015	PME type 3 - progressive myoclonic epilepsy type 3	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3757313013	Progressive myoclonic epilepsy type 3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3757314019	Progressive myoclonic epilepsy type 3 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3757315018	A rare genetic neuronal ceroid lipofuscinosis disorder with characteristics of infantile to early childhood onset of progressive myoclonic seizures (occasionally accompanied by generalised tonic-clonic seizures) and severe progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity. Caused by homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3757316017	A rare genetic neuronal ceroid lipofuscinosis disorder with characteristics of infantile to early childhood onset of progressive myoclonic seizures (occasionally accompanied by generalized tonic-clonic seizures) and severe progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity. Caused by homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.	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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