715827001: Autosomal recessive dopa responsive dystonia (disorder)

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

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3303839018	Autosomal recessive dopa responsive dystonia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3303840016	Autosomal recessive dopa responsive dystonia	en	Synonym	Active	Case insensitive	SNOMED CT core
3303841017	Autosomal recessive Segawa syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3303842012	Tyrosine hydroxylase deficient dopa responsive dystonia	en	Synonym	Active	Case insensitive	SNOMED CT core
4554514017	Tyrosine hydroxylase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3303843019	Autosomal recessive dopa responsive dystonia (DYT5b) is a very rare neurometabolic disorder with a spectrum of symptoms ranging from those seen in dopa responsive dystonia to progressive infantile encephalopathy. Disease presents in infancy (most frequently in the first year of life) with a progressive hypokinetic rigid syndrome, involuntary jerky movements, postural tremor, or gait disturbances that may fluctuate during the day and show good or excellent responsiveness to levodopa in most cases. DYT5b is caused by mutations in the tyrosine hydroxylase TH gene (11p15.5). Inherited in an autosomal recessive 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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