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715826005: Spinocerebellar ataxia type 31 (disorder)


Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3303836013 Spinocerebellar ataxia type 31 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3303837016 Spinocerebellar ataxia type 31 en Synonym Active Case insensitive SNOMED CT core
3303838014 Spinocerebellar ataxia type 31 (SCA31) is a very rare disease with manifestation of late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties. The mean age of disease onset is 58 years but it can present between the ages of 8 to 83 years. SCA31 is due to non-coding pentanucleotide repeat expansions in the brain expressed, associated with NEDD4, 1 (BEAN1) gene (16q21). Inherited autosomal dominantly with incomplete penetrance. 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 31 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 31 Associated morphology Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 31 Finding site Spinal cord structure true Inferred relationship Some 1
Spinocerebellar ataxia type 31 Finding site Cerebellar structure true Inferred relationship Some 2
Spinocerebellar ataxia type 31 Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 31 Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 31 Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 31 Associated morphology Degeneration false Inferred relationship Some 2
Spinocerebellar ataxia type 31 Finding site Spinal cord structure false Inferred relationship Some 2
Spinocerebellar ataxia type 31 Associated morphology Degeneration false Inferred relationship Some 3
Spinocerebellar ataxia type 31 Finding site Cerebellar 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

Australian dialect reference set

Problem/Diagnosis reference set

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