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716662004: Autosomal dominant late onset Parkinson disease (disorder)


Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3307125015 Autosomal dominant late onset Parkinson disease (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
3307126019 Autosomal dominant late onset Parkinson disease en Synonym Active Initial character case insensitive SNOMED CT core
3307127011 Hereditary late onset Parkinson disease en Synonym Active Initial character case insensitive SNOMED CT core
3307128018 A form of Parkinson disease with age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non-motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia. The exact etiology is still unknown but mutations in the genes SNCA (4q21.3-q22), LRRK2 (12q12), and VPS35 (16q12) have been implicated in its pathogenesis. Transmission is autosomal dominant. en Definition Active Case sensitive SNOMED CT core
3307129014 A form of Parkinson disease with age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non-motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia. The exact aetiology is still unknown but mutations in the genes SNCA (4q21.3-q22), LRRK2 (12q12), and VPS35 (16q12) have been implicated in its pathogenesis. Transmission is autosomal dominant. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant late onset Parkinson disease Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal dominant late onset Parkinson disease Is a Hereditary degenerative disease of central nervous system true Inferred relationship Some
Autosomal dominant late onset Parkinson disease Causative agent Alpha-synuclein false Inferred relationship Some 1
Autosomal dominant late onset Parkinson disease Interprets Movement true Inferred relationship Some 3
Autosomal dominant late onset Parkinson disease Has interpretation Slow true Inferred relationship Some 3
Autosomal dominant late onset Parkinson disease Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Autosomal dominant late onset Parkinson disease Is a Parkinson's disease true Inferred relationship Some
Autosomal dominant late onset Parkinson disease Is a Hereditary disorder of nervous system false Inferred relationship Some
Autosomal dominant late onset Parkinson disease Finding site Basal ganglion structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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