1167373005: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du mouvement\Movement disorder\Extrapyramidal disease\Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Chronic brain syndrome\Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Extrapyramidal disease\Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement 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\Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement 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)\...
• \Chronic brain syndrome\Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
• \Extrapyramidal disease\Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
• \affection de la tête\Disorder of brain (disorder)\...
• \Chronic brain syndrome\Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
• \Extrapyramidal disease\Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Chronic brain syndrome\Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement 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\Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement 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\Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
• \Disease\affection de la tête\Disorder of brain (disorder)\Chronic brain syndrome\Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
• \Disease\affection de la tête\Disorder of brain (disorder)\Extrapyramidal disease\Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
• \Disease\Movement disorder\Extrapyramidal disease\Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
• \Disease\maladie chronique\trouble neurologique chronique\Chronic brain syndrome\Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

Status: current, Not 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
4603877012	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4603878019	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4603879010	A rare genetic neurodegenerative disease with characteristics of childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum.	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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