715827001: Autosomal recessive dopa responsive dystonia (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303840016	Autosomal recessive dopa responsive dystonia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303841017	Autosomal recessive Segawa syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303842012	Tyrosine hydroxylase deficient dopa responsive dystonia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4554514017	Tyrosine hydroxylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5401130014	A very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401131013	A very rare neurometabolic disorder characterised by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3303839018	Autosomal recessive dopa responsive dystonia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303839018	Autosomal recessive dopa responsive dystonia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303840016	Autosomal recessive dopa responsive dystonia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303840016	Autosomal recessive dopa responsive dystonia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303841017	Autosomal recessive Segawa syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303842012	Tyrosine hydroxylase deficient dopa responsive dystonia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303842012	Tyrosine hydroxylase deficient dopa responsive dystonia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4554514017	Tyrosine hydroxylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401130014	A very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401131013	A very rare neurometabolic disorder characterised by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3449081001000116	Dopa-responsive Dystonie, autosomal-rezessive	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
918181000172113	dystonie dopa-sensible autosomique récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
977781000172115	DYT5b - dystonie dopa-sensible autosomique récessive	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
918181000172113	dystonie dopa-sensible autosomique récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
977781000172115	DYT5b - dystonie dopa-sensible autosomique récessive	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3449081001000116	Dopa-responsive Dystonie, autosomal-rezessive	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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