719276005: Primary dystonia type 4 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of movement (finding)\Movement disorder\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia (disorder)\Primary dystonia type 4 (disorder)
• \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 (disorder)\Primary dystonia type 4 (disorder)
• \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 (disorder)\Primary dystonia type 4 (disorder)
• \Finding of head and neck region\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 (disorder)\Primary dystonia type 4 (disorder)
• \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 (disorder)\Primary dystonia type 4 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal dominant idiopathic familial dystonia (disorder)\Primary dystonia type 4 (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant idiopathic familial dystonia (disorder)\Primary dystonia type 4 (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal dominant idiopathic familial dystonia (disorder)\Primary dystonia type 4 (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Autosomal dominant idiopathic familial dystonia (disorder)\Primary dystonia type 4 (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\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia (disorder)\Primary dystonia type 4 (disorder)
• \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 (disorder)\Primary dystonia type 4 (disorder)
• \Disease\Familial disease\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia (disorder)\Primary dystonia type 4 (disorder)
• \Disease\Movement disorder\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia (disorder)\Primary dystonia type 4 (disorder)
• \Disease\Idiopathic disease\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia (disorder)\Primary dystonia type 4 (disorder)

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
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
3315807015	DYT4 type primary dystonia has characteristics of predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis). So far, the disease has been reported in one large Australian family. The age of onset varies from 13 to 37 years. The locus for DYT4 remains unknown. The disease is transmitted in an autosomal dominant manner.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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