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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


    0 descendants.

    Expanded Value Set


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

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