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771142009: syndrome de dysplasie corticale-épilepsie focale (trouble)


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
770191000241118 syndrome de dysplasie corticale-épilepsie focale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
935551000172112 syndrome de dysplasie corticale-épilepsie focale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
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) morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Cortical dysplasia with focal epilepsy syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Cortical dysplasia with focal epilepsy syndrome (disorder) localisation d'une constatation (attribut) Structure of cerebral cortex (body structure) true Inferred relationship Some 1
Cortical dysplasia with focal epilepsy syndrome (disorder) est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Cortical dysplasia with focal epilepsy syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Cortical dysplasia with focal epilepsy syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Cortical dysplasia with focal epilepsy syndrome (disorder) est un(e) (attribut) Localisation-related epilepsy true Inferred relationship Some
Cortical dysplasia with focal epilepsy syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Cortical dysplasia with focal epilepsy syndrome (disorder) est un(e) (attribut) Cortical dysplasia true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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