719276005: Primary dystonia type 4 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).
• \Finding of movement\Movement disorder\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal dominant idiopathic familial dystonia\DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\Autosomal dominant idiopathic familial dystonia\DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal dominant idiopathic familial dystonia\DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Autosomal dominant idiopathic familial dystonia\DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).
• \Disease\Familial disease\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).
• \Disease\Movement disorder\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).
• \Disease\Idiopathic disease\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5402049012	DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402050012	DYT4 type primary dystonia is characterised by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315803016	Primary dystonia type 4 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315804010	Primary dystonia type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315805011	Primary dystonia DYT4 type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3315806012	Hereditary whispering dysphonia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6495431000241117	dystonie primaire de type DYT4	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6495441000241110	dystonie primaire de type 4	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3423861001000115	Dystonie, primäre, Typ DYT4	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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