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763861000: Pachygyria, intellectual disability, epilepsy syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3644780016 Pachygyria, intellectual disability, epilepsy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3644781017 Pachygyria, intellectual disability, epilepsy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3644782012 Kuzniecky syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404240017 A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404241018 A rare, genetic neurological disorder characterised by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalised tonic-clonic) and, on occasion, headache are also associated. 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
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Is a Macrogyria true Inferred relationship Some
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Is a Arachnoid cyst true Inferred relationship Some
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Is a Seizure disorder true Inferred relationship Some
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Finding site Arachnoid structure true Inferred relationship Some 2
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Associated morphology Congenital enlargement false Inferred relationship Some 2
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Finding site Structure of cerebral gyrus (body structure) false Inferred relationship Some 2
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Associated morphology Cyst false Inferred relationship Some 1
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Finding site Arachnoid structure false Inferred relationship Some 1
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Finding site Structure of cerebral gyrus (body structure) true Inferred relationship Some 1
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Is a Congenital malformation of the meninges true Inferred relationship Some
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Associated morphology Arachnoid cyst true Inferred relationship Some 2
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Associated morphology Enlargement (morphologic abnormality) true Inferred relationship Some 1
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 3
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 3
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 4
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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