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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mass of body structure\Space-occupying lesion of nervous system\Cyst of central nervous system\Meningeal cyst\Arachnoid cyst\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Neurological lesion\Space-occupying lesion of nervous system\Cyst of central nervous system\Meningeal cyst\Arachnoid cyst\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Central nervous system finding\Finding of meninges\Disorder of meninges\Meningeal cyst\Arachnoid cyst\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Central nervous system finding\Finding of meninges\Disorder of meninges\Congenital malformation of the meninges\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Cyst of central nervous system\Meningeal cyst\Arachnoid cyst\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital malformation of the meninges\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Central nervous system finding\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)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of meninges\Meningeal cyst\Arachnoid cyst\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of meninges\Congenital malformation of the meninges\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\...
• \Finding of brain\Seizure\Seizure disorder\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Finding of brain\Disorder of brain (disorder)\Seizure disorder\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Finding of brain\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Finding of head region\Disorder of cerebral cortex (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Cyst (disorder)\Cyst of central nervous system\Meningeal cyst\Arachnoid cyst\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Disorder of body system\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\Disorder of body system\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\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Cyst of central nervous system\Meningeal cyst\Arachnoid cyst\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Disorder of body system\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\Disorder of body system\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\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of meninges\Meningeal cyst\Arachnoid cyst\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Disorder of body system\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\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Congenital disease (disorder)\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 (disorder)\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 (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Developmental disorder\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\Developmental disorder\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\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\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
4138931000052119	syndrom med pakygyri, intellektuell funktionsnedsättning och epilepsi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Reference Sets

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