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715826005: Spinocerebellar ataxia type 31 (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
3303836013 Spinocerebellar ataxia type 31 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303837016 Spinocerebellar ataxia type 31 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401128012 An autosomal dominant cerebellar ataxia type III that is characterized by the late onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401129016 An autosomal dominant cerebellar ataxia type III that is characterised by the late onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spinocerebellar ataxia type 31 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 31 (disorder) Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 31 (disorder) Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 31 (disorder) Associated morphology Degeneration false Inferred relationship Some 2
Spinocerebellar ataxia type 31 (disorder) Finding site Spinal cord structure false Inferred relationship Some 2
Spinocerebellar ataxia type 31 (disorder) Associated morphology Degeneration false Inferred relationship Some 3
Spinocerebellar ataxia type 31 (disorder) Finding site Cerebellar structure false Inferred relationship Some 3
Spinocerebellar ataxia type 31 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 31 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 31 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Spinocerebellar ataxia type 31 (disorder) Finding site Cerebellar structure true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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