719276005: Primary dystonia type 4 (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of movement\Movement disorder\Extrapyramidal disease\Dystonia\Torsion dystonia\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\Primary dystonia DYT4 type
• \Central nervous system finding\Finding of brain\Encephalopathy\Extrapyramidal disease\Dystonia\Torsion dystonia\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\Primary dystonia DYT4 type
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Dystonia\Torsion dystonia\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\Primary dystonia DYT4 type
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Extrapyramidal disease\Dystonia\Torsion dystonia\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\Primary dystonia DYT4 type
• \Disorder of head\Encephalopathy\Extrapyramidal disease\Dystonia\Torsion dystonia\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\Primary dystonia DYT4 type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal dominant idiopathic familial dystonia\Primary dystonia DYT4 type
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant idiopathic familial dystonia\Primary dystonia DYT4 type
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal dominant idiopathic familial dystonia\Primary dystonia DYT4 type
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Autosomal dominant idiopathic familial dystonia\Primary dystonia DYT4 type
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Dystonia\Torsion dystonia\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\Primary dystonia DYT4 type
• \Disease\Disorder of head\Encephalopathy\Extrapyramidal disease\Dystonia\Torsion dystonia\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\Primary dystonia DYT4 type
• \Disease\Familial disease\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\Primary dystonia DYT4 type
• \Disease\Movement disorder\Extrapyramidal disease\Dystonia\Torsion dystonia\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\Primary dystonia DYT4 type
• \Disease\Idiopathic disease\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\Primary dystonia DYT4 type

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3315804010	Primary dystonia type 4	en	Synonym	Active	Case insensitive	SNOMED CT core
3315805011	Primary dystonia DYT4 type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3315806012	Hereditary whispering dysphonia	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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