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715754007: Spinocerebellar ataxia type 10 (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
3303613018 Spinocerebellar ataxia type 10 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303614012 Spinocerebellar ataxia type 10 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303615013 Main features described as slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances. Prevalence is unknown. Many kindreds have been found in Mexican and Brazilian populations. Age of onset ranges from 18 to 45 years. Caused by an ATTCT pentanucleotide repeat expansion in intron 9 of the ATXN10 gene (22q13). Exact pathogenesis has not been determined but RNA processing may be involved. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
960931000172114 SCA10 - spinocerebellar ataxia type 10 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
989251000172117 ataxie spinocérébelleuse type 10 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 10 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 10 (disorder) Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 10 (disorder) Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 10 (disorder) Associated morphology dégénérescence false Inferred relationship Some 2
Spinocerebellar ataxia type 10 (disorder) Associated morphology dégénérescence false Inferred relationship Some 3
Spinocerebellar ataxia type 10 (disorder) Finding site Spinal cord structure false Inferred relationship Some 2
Spinocerebellar ataxia type 10 (disorder) Finding site Cerebellar structure false Inferred relationship Some 3
Spinocerebellar ataxia type 10 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Spinocerebellar ataxia type 10 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 10 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 10 (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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