763861000: Pachygyria, intellectual disability, epilepsy syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \masse d'une structure corporelle\lésion expansive du système nerveux\kyste du système nerveux central\Meningeal cyst\kyste arachnoïde (trouble)\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \lésion neurologique\lésion expansive du système nerveux\kyste du système nerveux central\Meningeal cyst\kyste arachnoïde (trouble)\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos des méninges\Disorder of meninges\Meningeal cyst\kyste arachnoïde (trouble)\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos des méninges\Disorder of meninges\Congenital malformation of the meninges\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Disorder of cerebral cortex\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\kyste du système nerveux central\Meningeal cyst\kyste arachnoïde (trouble)\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital malformation of the meninges\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Pachygyria, intellectual disability, epilepsy 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\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex\Macrogyria\Pachygyria, intellectual disability, epilepsy 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\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of meninges\Meningeal cyst\kyste arachnoïde (trouble)\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of meninges\Congenital malformation of the meninges\Pachygyria, intellectual disability, epilepsy 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\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Disorder of cerebral cortex\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Finding of head region\Disorder of cerebral cortex\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\trouble convulsif\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\Disorder of cerebral cortex\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Neurological finding\Seizure related finding\convulsion\trouble convulsif\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Cyst (disorder)\kyste du système nerveux central\Meningeal cyst\kyste arachnoïde (trouble)\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital malformation of the meninges\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Pachygyria, intellectual disability, epilepsy 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\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\kyste du système nerveux central\Meningeal cyst\kyste arachnoïde (trouble)\Pachygyria, intellectual disability, epilepsy 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\Congenital malformation of the meninges\Pachygyria, intellectual disability, epilepsy 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\Disorder of neuronal migration and differentiation\Macrogyria\Pachygyria, intellectual disability, epilepsy 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\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy 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\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex\Macrogyria\Pachygyria, intellectual disability, epilepsy 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\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of meninges\Meningeal cyst\kyste arachnoïde (trouble)\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of meninges\Congenital malformation of the meninges\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Disorder of cerebral cortex\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital malformation of the meninges\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital malformation of the meninges\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy 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
3644780016	Pachygyria, intellectual disability, epilepsy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3644781017	Pachygyria, intellectual disability, epilepsy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3644782012	Kuzniecky syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3644783019	A rare genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and on occasion headache are also associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3644784013	A rare genetic neurological disorder characterised by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalised tonic-clonic) and on occasion headache are also associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

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US English

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