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

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Pachygyria, intellectual disability, epilepsy syndrome

\Mass of body structure\Space-occupying lesion of nervous system\Cyst of central nervous system\Meningeal cyst\Arachnoid cyst\Pachygyria, intellectual disability, epilepsy syndrome

\Neurological lesion\Space-occupying lesion of nervous system\Cyst of central nervous system\Meningeal cyst\Arachnoid cyst\Pachygyria, intellectual disability, epilepsy syndrome

\Central nervous system finding\Finding of meninges\Disorder of meninges\Meningeal cyst\Arachnoid cyst\Pachygyria, intellectual disability, epilepsy syndrome
\Central nervous system finding\Finding of meninges\Disorder of meninges\Congenital malformation of the meninges\Pachygyria, intellectual disability, epilepsy syndrome
\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Pachygyria, intellectual disability, epilepsy syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Pachygyria, intellectual disability, epilepsy syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Disorder of cerebral cortex\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome
\Central nervous system finding\Disorder of the central nervous system\Cyst of central nervous system\Meningeal cyst\Arachnoid cyst\Pachygyria, intellectual disability, epilepsy syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital malformation of the meninges\Pachygyria, intellectual disability, epilepsy syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Pachygyria, intellectual disability, epilepsy syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Disorder of cerebral cortex\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of meninges\Meningeal cyst\Arachnoid cyst\Pachygyria, intellectual disability, epilepsy syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of meninges\Congenital malformation of the meninges\Pachygyria, intellectual disability, epilepsy syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Seizure\Seizure disorder\Pachygyria, intellectual disability, epilepsy syndrome
\Finding of brain\Encephalopathy\Seizure disorder\Pachygyria, intellectual disability, epilepsy syndrome
\Finding of brain\Encephalopathy\Disorder of cerebral cortex\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome
\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome

\Finding of head region\Disorder of cerebral cortex\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome
\Disorder of head\Encephalopathy\Seizure disorder\Pachygyria, intellectual disability, epilepsy syndrome
\Disorder of head\Encephalopathy\Disorder of cerebral cortex\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Pachygyria, intellectual disability, epilepsy syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Pachygyria, intellectual disability, epilepsy syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Pachygyria, intellectual disability, epilepsy syndrome

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Pachygyria, intellectual disability, epilepsy syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Cyst\Cyst of central nervous system\Meningeal cyst\Arachnoid cyst\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital malformation of the meninges\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Cyst of central nervous system\Meningeal cyst\Arachnoid cyst\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital malformation of the meninges\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Disorder of cerebral cortex\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of meninges\Meningeal cyst\Arachnoid cyst\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of meninges\Congenital malformation of the meninges\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Disorder of head\Encephalopathy\Seizure disorder\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Disorder of head\Encephalopathy\Disorder of cerebral cortex\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital malformation of the meninges\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital malformation of the meninges\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Pachygyria, intellectual disability, epilepsy syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3644781017 Pachygyria, intellectual disability, epilepsy syndrome en Synonym Active Case insensitive SNOMED CT core

3644782012 Kuzniecky syndrome en Synonym Active Case sensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pachygyria, intellectual disability, epilepsy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Pachygyria, intellectual disability, epilepsy syndrome	Is a	Congenital malformation of the meninges	true	Inferred relationship	Some
Pachygyria, intellectual disability, epilepsy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Pachygyria, intellectual disability, epilepsy syndrome	Associated morphology	Arachnoid cyst	true	Inferred relationship	Some	2
Pachygyria, intellectual disability, epilepsy syndrome	Associated morphology	Enlargement	true	Inferred relationship	Some	1
Pachygyria, intellectual disability, epilepsy syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Pachygyria, intellectual disability, epilepsy syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	3
Pachygyria, intellectual disability, epilepsy syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Pachygyria, intellectual disability, epilepsy syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
Pachygyria, intellectual disability, epilepsy syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Pachygyria, intellectual disability, epilepsy syndrome	Is a	Macrogyria	true	Inferred relationship	Some
Pachygyria, intellectual disability, epilepsy syndrome	Is a	Arachnoid cyst	true	Inferred relationship	Some
Pachygyria, intellectual disability, epilepsy syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Pachygyria, intellectual disability, epilepsy syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Pachygyria, intellectual disability, epilepsy syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Pachygyria, intellectual disability, epilepsy syndrome	Is a	Seizure disorder	true	Inferred relationship	Some
Pachygyria, intellectual disability, epilepsy syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Pachygyria, intellectual disability, epilepsy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Pachygyria, intellectual disability, epilepsy syndrome	Finding site	Arachnoid structure	true	Inferred relationship	Some	2
Pachygyria, intellectual disability, epilepsy syndrome	Associated morphology	Congenital enlargement	false	Inferred relationship	Some	2
Pachygyria, intellectual disability, epilepsy syndrome	Finding site	Structure of cerebral gyrus	false	Inferred relationship	Some	2
Pachygyria, intellectual disability, epilepsy syndrome	Associated morphology	Cyst	false	Inferred relationship	Some	1
Pachygyria, intellectual disability, epilepsy syndrome	Finding site	Arachnoid structure	false	Inferred relationship	Some	1
Pachygyria, intellectual disability, epilepsy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Pachygyria, intellectual disability, epilepsy syndrome	Finding site	Structure of cerebral gyrus	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3644780016	Pachygyria, intellectual disability, epilepsy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3644781017	Pachygyria, intellectual disability, epilepsy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3644782012	Kuzniecky syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core