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771142009: Cortical dysplasia with focal epilepsy syndrome (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2023. 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
syndrom med kortikal dysplasi och fokal epilepsi	Finding site	Structure of cerebral cortex (body structure)	false	Inferred relationship	Some	1
syndrom med kortikal dysplasi och fokal epilepsi	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
syndrom med kortikal dysplasi och fokal epilepsi	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
syndrom med kortikal dysplasi och fokal epilepsi	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
syndrom med kortikal dysplasi och fokal epilepsi	Is a	Focal epilepsy	false	Inferred relationship	Some
syndrom med kortikal dysplasi och fokal epilepsi	Occurrence	Congenital	false	Inferred relationship	Some	1
syndrom med kortikal dysplasi och fokal epilepsi	Is a	Cortical dysplasia	false	Inferred relationship	Some
syndrom med kortikal dysplasi och fokal epilepsi	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
syndrom med kortikal dysplasi och fokal epilepsi	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
syndrom med kortikal dysplasi och fokal epilepsi	Is a	Developmental hereditary disorder	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)

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)