771142009: Cortical dysplasia with focal epilepsy syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

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

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

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

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

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Cortical dysplasia with focal epilepsy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cortical dysplasia with focal epilepsy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cortical dysplasia with focal epilepsy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Cortical dysplasia with focal epilepsy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Cortical dysplasia with focal 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\Cortical dysplasia\Cortical dysplasia with focal 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)\Cortical dysplasia\Cortical dysplasia with focal 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\Cortical dysplasia\Cortical dysplasia with focal 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)\Cortical dysplasia\Cortical dysplasia with focal 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\Epilepsy\Localisation-related epilepsy\Cortical dysplasia with focal 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)\Cortical dysplasia\Cortical dysplasia with focal 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)\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Localisation-related epilepsy\Cortical dysplasia with focal epilepsy syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex (disorder)\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cortical dysplasia\Cortical dysplasia with focal 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\Cortical dysplasia\Cortical dysplasia with focal 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)\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Cortical dysplasia with focal 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\Cortical dysplasia\Cortical dysplasia with focal 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)\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cortical dysplasia\Cortical dysplasia with focal epilepsy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3704554017 CDFE (cortical dysplasia focal epilepsy) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3704555016 Cortical dysplasia with focal epilepsy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

4209291000052110 syndrom med kortikal dysplasi och fokal 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

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3704553011	Cortical dysplasia with focal epilepsy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3704554017	CDFE (cortical dysplasia focal epilepsy) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3704555016	Cortical dysplasia with focal epilepsy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
4209291000052110	syndrom med kortikal dysplasi och fokal epilepsi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)