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719207000: Spinocerebellar ataxia type 11 (disorder)


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
3315417015 Spinocerebellar ataxia type 11 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315418013 Spinocerebellar ataxia type 11 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315419017 Disease with characteristics of early-onset cerebellar signs, eye movement abnormalities and pyramidal signs. Fifty-one clinically affected members from four families (of British, Pakistani, German and French descent) have been reported to date. The disease presents with the cerebellar signs such as dysarthria and progressive ataxia, eventually leading to difficulty walking and loss of balance as well as eye movement abnormalities (jerky pursuit, horizontal and vertical nystagmus and ophthalmoplegia). Caused by mutations in the tau tubulin kinase 2 TTBK2 gene (15q15.2). Inherited in autosomal dominant pattern. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
887271000172114 SCA11 - spinocerebellar ataxia type 11 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
951981000172110 ataxie spinocérébelleuse type 11 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
877951000172118 SCA11 - spinocerebellaire ataxie type 11 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
940291000172112 spinocerebellaire ataxie type 11 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spinocerebellar ataxia type 11 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 11 (disorder) Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 11 (disorder) Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 11 (disorder) Associated morphology Degeneration false Inferred relationship Some 2
Spinocerebellar ataxia type 11 (disorder) Associated morphology Degeneration false Inferred relationship Some 3
Spinocerebellar ataxia type 11 (disorder) Finding site Cerebellar structure true Inferred relationship Some 2
Spinocerebellar ataxia type 11 (disorder) Finding site Spinal cord structure false Inferred relationship Some 3
Spinocerebellar ataxia type 11 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 11 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 11 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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