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


Status: current, Primitive. 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 Active Case insensitive SNOMED CT core
4603878019 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (disorder) en Fully specified name Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder Is a Hereditary degenerative disease of central nervous system true Inferred relationship Some
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder Is a Extrapyramidal disease true Inferred relationship Some
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder Is a Chronic brain syndrome true Inferred relationship Some
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder Clinical course Progressive true Inferred relationship Some 3
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder Interprets Movement true Inferred relationship Some 4
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder Occurrence Childhood true Inferred relationship Some 1
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder Finding site Brain structure true Inferred relationship Some 1
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder Associated morphology Degenerative abnormality true Inferred relationship Some 1
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder Occurrence Childhood true Inferred relationship Some 2
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder Finding site Extrapyramidal system structure true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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Problem/Diagnosis reference set

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