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1172603005: Infantile-onset generalized dyskinesia with orofacial involvement (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4634549015 Infantile-onset generalised dyskinesia with orofacial involvement en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4634550015 Infantile-onset generalized dyskinesia with orofacial involvement en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4634551016 Infantile-onset generalized dyskinesia with orofacial involvement (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4634552011 Infantile-onset orofacial, trunk, limbs dyskinesia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399344011 A rare hyperkinetic movement disorder characterized by delayed motor development and infantile onset of axial hypotonia and a generalized hyperkinetic movement disorder, principally with dyskinesia of the limbs and trunk, and facial involvement including orolingual dyskinesia, drooling, and dysarthria. Variable hyperkinetic movements may include a jerky quality, intermittent chorea and ballismus. Brain imaging is normal and cognitive performance is typically preserved. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399345012 A rare hyperkinetic movement disorder characterised by delayed motor development and infantile onset of axial hypotonia and a generalised hyperkinetic movement disorder, principally with dyskinesia of the limbs and trunk, and facial involvement including orolingual dyskinesia, drooling, and dysarthria. Variable hyperkinetic movements may include a jerky quality, intermittent chorea and ballismus. Brain imaging is normal and cognitive performance is typically preserved. 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
Infantile-onset generalised dyskinesia with orofacial involvement Is a Dystonia true Inferred relationship Some
Infantile-onset generalised dyskinesia with orofacial involvement Is a Hereditary disorder of nervous system true Inferred relationship Some
Infantile-onset generalised dyskinesia with orofacial involvement Is a Orofacial dyskinesia true Inferred relationship Some
Infantile-onset generalised dyskinesia with orofacial involvement Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Infantile-onset generalised dyskinesia with orofacial involvement Interprets Movement true Inferred relationship Some 2
Infantile-onset generalised dyskinesia with orofacial involvement Finding site Extrapyramidal system structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Description inactivation indicator reference set

GB English

US English

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