425492002: Generalized dystonia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)

\Finding of movement\Movement disorder\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)

\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)
\Disease\Movement disorder\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2007. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2662097011 Generalized dystonia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2676185011 Generalized dystonia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2676186012 Generalised dystonia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1874191000195111 distonia generalizzata it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

437651000172119 dystonie généralisée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Generalized dystonia (disorder)	Is a	Dystonia	true	Inferred relationship	Some
Generalized dystonia (disorder)	Finding site	Extrapyramidal system structure (body structure)	true	Inferred relationship	Some	1
Generalized dystonia (disorder)	Interprets	mouvement	false	Inferred relationship	Some	2
Generalized dystonia (disorder)	Interprets	Movement observable	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome.	Is a	True	Generalized dystonia (disorder)	Inferred relationship	Some
Dystonia-aphonia syndrome is a rare, genetic, persistent combined dystonia disorder characterized by slowly progressive, severe, caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement leading to severe anarthria and/or aphonia, swallowing difficulties, and gait disturbances. Additional manifestations include slowed horizontal saccades, subclinical epilepsy, photic myoclonus, oral hypertrophic changes (e.g. gingival or lingual hyperplasia), as well as delayed milestones and cognitive impairment.	Is a	True	Generalized dystonia (disorder)	Inferred relationship	Some
A rare genetic neurological disorder characterized by childhood-onset dystonia with distinctive MRI changes in the basal ganglia, and optic atrophy developing either immediately or within a few years after the appearance of dystonia. Additional symptoms include chorea and other movement disorders, dysarthria, or nystagmus, among others. Motor disability progresses gradually, while cognitive function is relatively spared.	Is a	True	Generalized dystonia (disorder)	Inferred relationship	Some
A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association.	Is a	True	Generalized dystonia (disorder)	Inferred relationship	Some

This concept is not in any reference sets