720466001: Adult-onset dystonia parkinsonism (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Extrapyramidal disease\Parkinsonism\A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
• \Head finding (finding)\Finding of brain\Disorder of brain\Extrapyramidal disease\Dystonia\A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
• \Head finding (finding)\Finding of brain\Disorder of brain\Disorder of basal ganglia (disorder)\Parkinsonism\A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
• \Head finding (finding)\Finding of head region\Disorder of basal ganglia (disorder)\Parkinsonism\A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Extrapyramidal disease\Parkinsonism\A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Extrapyramidal disease\Dystonia\A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of basal ganglia (disorder)\Parkinsonism\A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
• \Finding of movement\Bradykinesia (finding)\Parkinsonism\A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
• \Finding of movement\Movement disorder\Extrapyramidal disease\Parkinsonism\A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
• \Finding of movement\Movement disorder\Extrapyramidal disease\Dystonia\A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
• \Central nervous system finding\Finding of brain\Disorder of brain\Extrapyramidal disease\Parkinsonism\A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
• \Central nervous system finding\Finding of brain\Disorder of brain\Extrapyramidal disease\Dystonia\A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
• \Central nervous system finding\Finding of brain\Disorder of brain\Disorder of basal ganglia (disorder)\Parkinsonism\A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Extrapyramidal disease\Parkinsonism\A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Extrapyramidal disease\Dystonia\A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of basal ganglia (disorder)\Parkinsonism\A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Extrapyramidal disease\Parkinsonism\A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Extrapyramidal disease\Dystonia\A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of basal ganglia (disorder)\Parkinsonism\A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
• \Disease\Disorder of head (disorder)\Disorder of brain\Extrapyramidal disease\Parkinsonism\A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
• \Disease\Disorder of head (disorder)\Disorder of brain\Extrapyramidal disease\Dystonia\A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
• \Disease\Disorder of head (disorder)\Disorder of brain\Disorder of basal ganglia (disorder)\Parkinsonism\A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
• \Disease\Movement disorder\Extrapyramidal disease\Parkinsonism\A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
• \Disease\Movement disorder\Extrapyramidal disease\Dystonia\A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3320934019	Adult-onset dystonia parkinsonism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3320935018	Adult-onset dystonia parkinsonism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3320936017	Dystonia parkinsonism Paisan-Ruiz type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3320937014	PLA2G6 (phospholipase A2 group VI) related dystonia parkinsonism	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402347017	A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402348010	A rare neurodegenerative disease usually presenting before the age of 30 and which is characterised by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3320934019	Adult-onset dystonia parkinsonism (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3320934019	Adult-onset dystonia parkinsonism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3320935018	Adult-onset dystonia parkinsonism	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3320935018	Adult-onset dystonia parkinsonism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3320936017	Dystonia parkinsonism Paisan-Ruiz type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3320937014	PLA2G6 (phospholipase A2 group VI) related dystonia parkinsonism	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3320938016	A rare neurodegenerative disease usually presenting before the age of 30 with characteristics of dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. Prevalence is unknown. Only 14 cases have been reported to date. Caused by mutations in the phospholipase A2, group VI (PLA2G6) gene located on chromosome 22q13.1. Inherited in an autosomal recessive manner.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402347017	A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402348010	A rare neurodegenerative disease usually presenting before the age of 30 and which is characterised by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3422041001000117	Dystonie-Parkinsonismus mit Beginn im Erwachsenenalter	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
940871000172112	dystonie, parkinsonisme associées à PLA2G6	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1014491000172118	dystonie-parkinsonisme de l'adulte	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
940871000172112	dystonie, parkinsonisme associées à PLA2G6	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1014491000172118	dystonie-parkinsonisme de l'adulte	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3422041001000117	Dystonie-Parkinsonismus mit Beginn im Erwachsenenalter	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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