725392005: neurodégénérescence striatale autosomique dominante (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du mouvement\Bradykinesia (finding)\parkinsonisme\Autosomal dominant striatal neurodegeneration (disorder)
• \constatation à propos du mouvement\Movement disorder\Extrapyramidal disease\parkinsonisme\Autosomal dominant striatal neurodegeneration (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Extrapyramidal disease\parkinsonisme\Autosomal dominant striatal neurodegeneration (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\parkinsonisme\Autosomal dominant striatal neurodegeneration (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Autosomal dominant striatal neurodegeneration (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\parkinsonisme\Autosomal dominant striatal neurodegeneration (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\parkinsonisme\Autosomal dominant striatal neurodegeneration (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Autosomal dominant striatal neurodegeneration (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Autosomal dominant striatal neurodegeneration (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebral degeneration (disorder)\Autosomal dominant striatal neurodegeneration (disorder)
• \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\Autosomal dominant striatal neurodegeneration (disorder)
• \Disorder of basal ganglia (disorder)\parkinsonisme\Autosomal dominant striatal neurodegeneration (disorder)
• \Degenerative brain disorder\Cerebral degeneration (disorder)\Autosomal dominant striatal neurodegeneration (disorder)
• \Finding of head region\Disorder of basal ganglia (disorder)\parkinsonisme\Autosomal dominant striatal neurodegeneration (disorder)
• \affection de la tête\Disorder of brain (disorder)\...
• \Extrapyramidal disease\parkinsonisme\Autosomal dominant striatal neurodegeneration (disorder)
• \Disorder of basal ganglia (disorder)\parkinsonisme\Autosomal dominant striatal neurodegeneration (disorder)
• \Degenerative brain disorder\Cerebral degeneration (disorder)\Autosomal dominant striatal neurodegeneration (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Autosomal dominant striatal neurodegeneration (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant striatal neurodegeneration (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Autosomal dominant striatal neurodegeneration (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebral degeneration (disorder)\Autosomal dominant striatal neurodegeneration (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Autosomal dominant striatal neurodegeneration (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Autosomal dominant striatal neurodegeneration (disorder)
• \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\Autosomal dominant striatal neurodegeneration (disorder)
• \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\Autosomal dominant striatal neurodegeneration (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Autosomal dominant striatal neurodegeneration (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Autosomal dominant striatal neurodegeneration (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebral degeneration (disorder)\Autosomal dominant striatal neurodegeneration (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Extrapyramidal disease\parkinsonisme\Autosomal dominant striatal neurodegeneration (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\parkinsonisme\Autosomal dominant striatal neurodegeneration (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Autosomal dominant striatal neurodegeneration (disorder)
• \Disease\Movement disorder\Extrapyramidal disease\parkinsonisme\Autosomal dominant striatal neurodegeneration (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3441978014	Autosomal dominant striatal neurodegeneration (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3441979018	Autosomal dominant striatal neurodegeneration	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3441980015	ADSD - autosomal dominant striatal neurodegeneration	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
761001000241111	neurodégénérescence striatale autosomique dominante (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
886521000172114	ADSD - autosomal dominant striatal neurodegeneration	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
887481000172111	neurodégénérescence striatale autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3441981016	An adult-onset movement disorder with characteristics of bradykinesia, dysarthria and muscle rigidity. To date the disease has been observed in seven individuals in one family. Onset of symptoms is in the fourth to fifth decade of life with mild progressive dysarthria and hypokinesia. Dysdiadochokinesia is also present and muscle tone is slightly increased. Dysfunction and changes of the striatal part of the basal ganglia are visible on magnetic resonance imaging. Caused by mutation in the PDE8B gene (5q13.3-q14.1) and transmitted in an autosomal dominant manner with complete penetrance in the investigated family.	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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