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716724006: Spinocerebellar ataxia type 15/16 (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
3307330014 Spinocerebellar ataxia type 15/16 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3307331013 Spinocerebellar ataxia type 15/16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3307333011 A rare subtype of type 1 autosomal dominant cerebellar ataxia with characteristics of cerebellar ataxia, tremor and cognitive impairment. Prevalence is unknown. Fewer than 80 patients affected by the disease have been identified to date. Age of onset is from 20 to 66 years. Genetic testing has shown that patients originally classified under SCA15 and SCA16 have the same subtype caused by a deletion in the inositol 1,4,5-triphosphate receptor 1 ITPR1 gene (3p26.1). Prognosis is generally good and life-shortening events do not usually occur. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
911001000172113 SCA15/16 - spinocerebellar ataxia type 15/16 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1002291000172112 ataxie spinocérébelleuse type 15/16 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spinocerebellar ataxia type 15/16 (disorder) Is a Spinocerebellar ataxia type 1 (disorder) false Inferred relationship Some
Spinocerebellar ataxia type 15/16 (disorder) Associated morphology dégénérescence false Inferred relationship Some 2
Spinocerebellar ataxia type 15/16 (disorder) Associated morphology dégénérescence false Inferred relationship Some 3
Spinocerebellar ataxia type 15/16 (disorder) Finding site Spinal cord structure false Inferred relationship Some 2
Spinocerebellar ataxia type 15/16 (disorder) Finding site Cerebellar structure false Inferred relationship Some 3
Spinocerebellar ataxia type 15/16 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 15/16 (disorder) Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 15/16 (disorder) Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 15/16 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 15/16 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 15/16 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Spinocerebellar ataxia type 15/16 (disorder) Finding site Cerebellar structure 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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