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719207000: Spinocerebellar ataxia type 11 (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3315418013 Spinocerebellar ataxia type 11 en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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