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718771009: spinocerebellaire ataxie type 20 (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
3313801017 Spinocerebellar ataxia type 20 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313802012 Spinocerebellar ataxia type 20 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6162671000146111 spinocerebellaire ataxie type 20 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6162681000146113 SCA20 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6162691000146110 spinocerebellaire ataxie type 20 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3313807018 A very rare subtype of type I autosomal dominant cerebellar ataxia with cerebellar dysarthria as the initial typical manifestation. Prevalence is unknown. Fewer than 20 cases in a 4-generation Australian family of Anglo-Celtic descent have been reported to date. Age of symptomatic disease onset ranges from 19 to 64 years. Linked to chromosome 11q12.2-11q12.3. 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 20 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 20 (disorder) Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 20 (disorder) Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 20 (disorder) Associated morphology degeneratie (afwijkende morfologie) false Inferred relationship Some 2
Spinocerebellar ataxia type 20 (disorder) Associated morphology degeneratie (afwijkende morfologie) false Inferred relationship Some 3
Spinocerebellar ataxia type 20 (disorder) Finding site Cerebellar structure true Inferred relationship Some 2
Spinocerebellar ataxia type 20 (disorder) Finding site Spinal cord structure false Inferred relationship Some 3
Spinocerebellar ataxia type 20 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 20 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Spinocerebellar ataxia type 20 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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