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716662004: Autosomal dominant late onset Parkinson disease (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Only initial character case insensitive (core metadata concept) SNOMED CT core
3307126019 Autosomal dominant late onset Parkinson disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3307127011 Hereditary late onset Parkinson disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5401350017 Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an 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 (LID). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401351018 Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterised by an 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 (LID). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3307125015 Autosomal dominant late onset Parkinson disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3307126019 Autosomal dominant late onset Parkinson disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3307127011 Hereditary late onset Parkinson disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5401350017 Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an 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 (LID). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401351018 Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterised by an 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 (LID). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3396531001000117 Hereditäre Parkinson-Krankheit mit spätem Beginn de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5776101000241111 maladie de Parkinson autosomique dominante d'apparition tardive fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5776111000241113 maladie de Parkinson autosomique dominante à début tardif fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5776101000241111 maladie de Parkinson autosomique dominante d'apparition tardive fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5776111000241113 maladie de Parkinson autosomique dominante à début tardif fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3396531001000117 Hereditäre Parkinson-Krankheit mit spätem Beginn de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant late onset Parkinson disease (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant late onset Parkinson disease (disorder) Is a Parkinson's disease true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant late onset Parkinson disease (disorder) Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant late onset Parkinson disease (disorder) Finding site Basal ganglion structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant late onset Parkinson disease (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant late onset Parkinson disease (disorder) Is a Hereditary degenerative disease of central nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant late onset Parkinson disease (disorder) Causative agent (attribute) Alpha-synuclein false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant late onset Parkinson disease (disorder) Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant late onset Parkinson disease (disorder) Has interpretation Slow true Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant late onset Parkinson disease (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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