782695002: Primary dystonia DYT17 type (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 recessive idiopathic familial dystonia\A rare genetic isolated dystonia initially presenting as torticollis and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.
• \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 recessive idiopathic familial dystonia\A rare genetic isolated dystonia initially presenting as torticollis and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.
• \Finding of movement\Movement disorder\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia\A rare genetic isolated dystonia initially presenting as torticollis and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.
• \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 recessive idiopathic familial dystonia\A rare genetic isolated dystonia initially presenting as torticollis and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.
• \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 recessive idiopathic familial dystonia\A rare genetic isolated dystonia initially presenting as torticollis and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive idiopathic familial dystonia\A rare genetic isolated dystonia initially presenting as torticollis and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive idiopathic familial dystonia\A rare genetic isolated dystonia initially presenting as torticollis and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive idiopathic familial dystonia\A rare genetic isolated dystonia initially presenting as torticollis and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Autosomal recessive idiopathic familial dystonia\A rare genetic isolated dystonia initially presenting as torticollis and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.
• \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 recessive idiopathic familial dystonia\A rare genetic isolated dystonia initially presenting as torticollis and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia\A rare genetic isolated dystonia initially presenting as torticollis and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.
• \Disease\Familial disease (disorder)\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia\A rare genetic isolated dystonia initially presenting as torticollis and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.
• \Disease\Movement disorder\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia\A rare genetic isolated dystonia initially presenting as torticollis and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.
• \Disease\Idiopathic disease\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia\A rare genetic isolated dystonia initially presenting as torticollis and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3755253012	A rare genetic isolated dystonia initially presenting as torticollis and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755255017	A rare genetic isolated dystonia initially presenting as torticollis and later progressing to segmental or generalised dystonia. Dysphonia and dysarthria also occur later in the disease course.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755250010	Primary dystonia DYT17 type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3755251014	Primary dystonia DYT17 type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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