715768000: Autosomal dominant dopa responsive dystonia (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of movement\Movement disorder\Extrapyramidal disease\Dystonia\Diurnal dystonia\Autosomal dominant dopa responsive dystonia
• \Central nervous system finding\Finding of brain\Encephalopathy\Extrapyramidal disease\Dystonia\Diurnal dystonia\Autosomal dominant dopa responsive dystonia
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Dystonia\Diurnal dystonia\Autosomal dominant dopa responsive dystonia
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Extrapyramidal disease\Dystonia\Diurnal dystonia\Autosomal dominant dopa responsive dystonia
• \Disorder of head\Encephalopathy\Extrapyramidal disease\Dystonia\Diurnal dystonia\Autosomal dominant dopa responsive dystonia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal dominant dopa responsive dystonia
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant dopa responsive dystonia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal dominant dopa responsive dystonia
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Autosomal dominant dopa responsive dystonia
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Dystonia\Diurnal dystonia\Autosomal dominant dopa responsive dystonia
• \Disease\Disorder of head\Encephalopathy\Extrapyramidal disease\Dystonia\Diurnal dystonia\Autosomal dominant dopa responsive dystonia
• \Disease\Movement disorder\Extrapyramidal disease\Dystonia\Diurnal dystonia\Autosomal dominant dopa responsive dystonia

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3303652013	Autosomal dominant dopa responsive dystonia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3303653015	Autosomal dominant dopa responsive dystonia	en	Synonym	Active	Case insensitive	SNOMED CT core
3303654014	Autosomal dominant Segawa syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3303655010	Hereditary progressive dystonia with marked diurnal fluctuation	en	Synonym	Active	Case insensitive	SNOMED CT core
3303656011	A rare neurometabolic disorder with main features described as childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa and that may be associated with parkinsonism at an older age. Inherited in an autosomal dominant manner, but due to gender-based incomplete penetrance, not everyone with a mutation will display the disease phenotype.	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

Description inactivation indicator reference set

REPLACED BY association reference set

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