FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

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
4634553018 A rare hyperkinetic movement disorder with characteristics of 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
4634554012 A rare hyperkinetic movement disorder with characteristics of 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
5339471000052116 generaliserad dyskinesi med debut i spädbarnsåldern med orofacialt engagemang sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


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

This concept is not in any reference sets

Back to Start