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720466001: Adult-onset dystonia parkinsonism (disorder)


Status: current, Defined. 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 Case insensitive SNOMED CT core
3320935018 Adult-onset dystonia parkinsonism en Synonym Active Case insensitive SNOMED CT core
3320936017 Dystonia parkinsonism Paisan-Ruiz type en Synonym Active Initial character case insensitive SNOMED CT core
3320937014 PLA2G6 (phospholipase A2 group VI) related dystonia parkinsonism en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Adult-onset dystonia parkinsonism Interprets Movement true Inferred relationship Some 4
Adult-onset dystonia parkinsonism Has interpretation Slow true Inferred relationship Some 4
Adult-onset dystonia parkinsonism Is a Dystonia true Inferred relationship Some
Adult-onset dystonia parkinsonism Is a Parkinsonism true Inferred relationship Some
Adult-onset dystonia parkinsonism Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Adult-onset dystonia parkinsonism Is a Hereditary disorder of nervous system true Inferred relationship Some
Adult-onset dystonia parkinsonism Occurrence Adulthood true Inferred relationship Some 1
Adult-onset dystonia parkinsonism Finding site Basal ganglion structure true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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