771142009: Cortical dysplasia with focal epilepsy syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Neurological lesion\Lesion of brain\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Localisation-related epilepsy\Cortical dysplasia with focal epilepsy syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Lesion of brain\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Localisation-related epilepsy\Cortical dysplasia with focal epilepsy syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Disorder of cerebral cortex\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Cortical dysplasia\Cortical dysplasia with focal 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\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Lesion of brain\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Localisation-related epilepsy\Cortical dysplasia with focal epilepsy syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Disorder of cerebral cortex\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome

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

\Finding of brain\Seizure\Seizure disorder\Epilepsy\Localisation-related epilepsy\Cortical dysplasia with focal epilepsy syndrome
\Finding of brain\Encephalopathy\Lesion of brain\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome
\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Localisation-related epilepsy\Cortical dysplasia with focal epilepsy syndrome
\Finding of brain\Encephalopathy\Disorder of cerebral cortex\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome
\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome

\Finding of head region\Disorder of cerebral cortex\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome
\Disorder of head\Encephalopathy\Lesion of brain\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome
\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Localisation-related epilepsy\Cortical dysplasia with focal epilepsy syndrome
\Disorder of head\Encephalopathy\Disorder of cerebral cortex\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Localisation-related epilepsy\Cortical dysplasia with focal epilepsy syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Cortical dysplasia with focal epilepsy syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cortical dysplasia with focal epilepsy syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cortical dysplasia with focal epilepsy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Cortical dysplasia with focal epilepsy syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Cortical dysplasia with focal 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\Cortical dysplasia\Cortical dysplasia with focal 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\Cortical dysplasia\Cortical dysplasia with focal 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\Cortical dysplasia\Cortical dysplasia with focal 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\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Lesion of brain\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Localisation-related epilepsy\Cortical dysplasia with focal epilepsy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Disorder of cerebral cortex\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome
\Disease\Disorder of head\Encephalopathy\Lesion of brain\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome
\Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Localisation-related epilepsy\Cortical dysplasia with focal epilepsy syndrome
\Disease\Disorder of head\Encephalopathy\Disorder of cerebral cortex\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Cortical dysplasia\Cortical dysplasia with focal 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\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Cortical dysplasia with focal epilepsy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Cortical dysplasia\Cortical dysplasia with focal 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\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3704553011 Cortical dysplasia with focal epilepsy syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3704554017 CDFE (cortical dysplasia focal epilepsy) syndrome en Synonym Active Case sensitive SNOMED CT core

3704555016 Cortical dysplasia with focal epilepsy syndrome en Synonym Active Case insensitive SNOMED CT core

3704556015 A rare genetic epilepsy characterized by relatively large head circumference or macrocephaly, diminished or absent deep-tendon reflexes and mild gross motor delay in infancy, followed by intractable focal seizures with language regression, behavioral abnormalities (hyperactivity, attention deficit, aggressive/autoaggressive behavior, autistic features) and intellectual disability later in life. en Definition Active Case sensitive SNOMED CT core

3704557012 A rare genetic epilepsy characterised by relatively large head circumference or macrocephaly, diminished or absent deep-tendon reflexes and mild gross motor delay in infancy, followed by intractable focal seizures with language regression, behavioural abnormalities (hyperactivity, attention deficit, aggressive/autoaggressive behaviour, autistic features) and intellectual disability later in life. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cortical dysplasia with focal epilepsy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Cortical dysplasia with focal epilepsy syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Cortical dysplasia with focal epilepsy syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Cortical dysplasia with focal epilepsy syndrome	Finding site	Structure of cerebral cortex	true	Inferred relationship	Some	1
Cortical dysplasia with focal epilepsy syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Cortical dysplasia with focal epilepsy syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Cortical dysplasia with focal epilepsy syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Cortical dysplasia with focal epilepsy syndrome	Is a	Localisation-related epilepsy	true	Inferred relationship	Some
Cortical dysplasia with focal epilepsy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Cortical dysplasia with focal epilepsy syndrome	Is a	Cortical dysplasia	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3704553011	Cortical dysplasia with focal epilepsy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3704554017	CDFE (cortical dysplasia focal epilepsy) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3704555016	Cortical dysplasia with focal epilepsy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3704556015	A rare genetic epilepsy characterized by relatively large head circumference or macrocephaly, diminished or absent deep-tendon reflexes and mild gross motor delay in infancy, followed by intractable focal seizures with language regression, behavioral abnormalities (hyperactivity, attention deficit, aggressive/autoaggressive behavior, autistic features) and intellectual disability later in life.	en	Definition	Active	Case sensitive	SNOMED CT core
3704557012	A rare genetic epilepsy characterised by relatively large head circumference or macrocephaly, diminished or absent deep-tendon reflexes and mild gross motor delay in infancy, followed by intractable focal seizures with language regression, behavioural abnormalities (hyperactivity, attention deficit, aggressive/autoaggressive behaviour, autistic features) and intellectual disability later in life.	en	Definition	Active	Case sensitive	SNOMED CT core