720466001: dystonie-parkinsonisme de l'adulte (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du mouvement\Bradykinesia (finding)\parkinsonisme\dystonie-parkinsonisme de l'adulte
• \constatation à propos du mouvement\Movement disorder\Extrapyramidal disease\parkinsonisme\dystonie-parkinsonisme de l'adulte
• \constatation à propos du mouvement\Movement disorder\Extrapyramidal disease\dystonie\dystonie-parkinsonisme de l'adulte
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Extrapyramidal disease\parkinsonisme\dystonie-parkinsonisme de l'adulte
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\dystonie-parkinsonisme de l'adulte
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\parkinsonisme\dystonie-parkinsonisme de l'adulte
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\parkinsonisme\dystonie-parkinsonisme de l'adulte
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\dystonie-parkinsonisme de l'adulte
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\parkinsonisme\dystonie-parkinsonisme de l'adulte
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\...
• \Extrapyramidal disease\parkinsonisme\dystonie-parkinsonisme de l'adulte
• \Extrapyramidal disease\dystonie\dystonie-parkinsonisme de l'adulte
• \Disorder of basal ganglia (disorder)\parkinsonisme\dystonie-parkinsonisme de l'adulte
• \Finding of head region\Disorder of basal ganglia (disorder)\parkinsonisme\dystonie-parkinsonisme de l'adulte
• \affection de la tête\Disorder of brain (disorder)\...
• \Extrapyramidal disease\parkinsonisme\dystonie-parkinsonisme de l'adulte
• \Extrapyramidal disease\dystonie\dystonie-parkinsonisme de l'adulte
• \Disorder of basal ganglia (disorder)\parkinsonisme\dystonie-parkinsonisme de l'adulte
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\dystonie-parkinsonisme de l'adulte
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\dystonie-parkinsonisme de l'adulte
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\dystonie-parkinsonisme de l'adulte
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\dystonie-parkinsonisme de l'adulte
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\parkinsonisme\dystonie-parkinsonisme de l'adulte
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\dystonie-parkinsonisme de l'adulte
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\parkinsonisme\dystonie-parkinsonisme de l'adulte
• \Disease\affection de la tête\Disorder of brain (disorder)\Extrapyramidal disease\parkinsonisme\dystonie-parkinsonisme de l'adulte
• \Disease\affection de la tête\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\dystonie-parkinsonisme de l'adulte
• \Disease\affection de la tête\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\parkinsonisme\dystonie-parkinsonisme de l'adulte
• \Disease\Movement disorder\Extrapyramidal disease\parkinsonisme\dystonie-parkinsonisme de l'adulte
• \Disease\Movement disorder\Extrapyramidal disease\dystonie\dystonie-parkinsonisme de l'adulte

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
1014491000172118	dystonie-parkinsonisme de l'adulte	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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
755441000241112	dystonie-parkinsonisme de l'adulte (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
940871000172112	dystonie, parkinsonisme associées à PLA2G6	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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