719278006: Primary dystonia type 13 (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 DYT13 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 DYT13 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 DYT13 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 DYT13 type
• \Disorder of head\Encephalopathy\Extrapyramidal disease\Dystonia\Torsion dystonia\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\Primary dystonia DYT13 type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal dominant idiopathic familial dystonia\Primary dystonia DYT13 type
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant idiopathic familial dystonia\Primary dystonia DYT13 type
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal dominant idiopathic familial dystonia\Primary dystonia DYT13 type
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Autosomal dominant idiopathic familial dystonia\Primary dystonia DYT13 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 DYT13 type
• \Disease\Disorder of head\Encephalopathy\Extrapyramidal disease\Dystonia\Torsion dystonia\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\Primary dystonia DYT13 type
• \Disease\Familial disease\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\Primary dystonia DYT13 type
• \Disease\Movement disorder\Extrapyramidal disease\Dystonia\Torsion dystonia\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\Primary dystonia DYT13 type
• \Disease\Idiopathic disease\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\Primary dystonia DYT13 type

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3315811014	Primary dystonia type 13 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3315812019	Primary dystonia type 13	en	Synonym	Active	Case insensitive	SNOMED CT core
3315813012	Primary dystonia DYT13 type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3315814018	Primary dystonia with mixed phenotype	en	Synonym	Active	Case insensitive	SNOMED CT core
3315815017	DYT13 type primary dystonia has characteristics of focal or segmental dystonia with cranial, cervical, or upper limb involvement. It has been reported in individuals from three generations of one large Italian family. Age of onset varied between 5 years and adulthood. The clinical manifestations were generally mild and slowly progressive. The causative gene locus has been identified on chromosome 1p36.13-1p36.32. 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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