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719251009: spinocerebellaire ataxie type 19 (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3315686012 Spinocerebellar ataxia type 19 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315687015 Spinocerebellar ataxia type 19 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6162611000146119 spinocerebellaire ataxie type 19 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6162621000146112 spinocerebellaire ataxie type 19 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6162631000146114 SCA19 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3315688013 Disease with characteristics of mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor. Prevalence is unknown. Only 12 cases in a 5-generation Dutch family have been reported to date. SCA19 presents in the third decade of life with symptomatic disease onset ranging from 10 to 46 years. Onset symptoms of SCA22 overlap significantly with those of SCA19 but with a more narrow age range of 35 to 46 years. Linkage to locus 1p21-q21 has been proposed but the gene mutation has not been identified. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spinocerebellar ataxia type 19 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 19 (disorder) Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 19 (disorder) Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 19 (disorder) Associated morphology degeneratie (afwijkende morfologie) false Inferred relationship Some 2
Spinocerebellar ataxia type 19 (disorder) Associated morphology degeneratie (afwijkende morfologie) false Inferred relationship Some 3
Spinocerebellar ataxia type 19 (disorder) Finding site Cerebellar structure true Inferred relationship Some 2
Spinocerebellar ataxia type 19 (disorder) Finding site Spinal cord structure false Inferred relationship Some 3
Spinocerebellar ataxia type 19 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 19 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Spinocerebellar ataxia type 19 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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