765089003: Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Partial seizure\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Partial seizure\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Partial seizure\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Partial seizure\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Partial seizure\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\trouble convulsif\Partial seizure\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Neurological finding\Seizure related finding\convulsion\trouble convulsif\Partial seizure\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (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\Partial seizure\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Partial seizure\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3656366018	Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3656367010	Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3656368017	Focal epilepsy, intellectual disability, dysarthria, ataxia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3656177019	A rare genetic neurological disorder with early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura. When not properly controlled by anti-epileptic medication, weekly frequency and persistence into adult life is observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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