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1208513005: Spinocerebellar ataxia type 42 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4964981014 Spinocerebellar ataxia type 42 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4964982019 Spinocerebellar ataxia type 42 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4964983012 A rare autosomal dominant cerebellar ataxia with characteristics of pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural tremor. 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 42 est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 42 est un(e) (attribut) ataxie spinocérébelleuse dominante true Inferred relationship Some
Spinocerebellar ataxia type 42 est un(e) (attribut) Chronic brain syndrome true Inferred relationship Some
Spinocerebellar ataxia type 42 évolution clinique (attribut) progressif true Inferred relationship Some 3
Spinocerebellar ataxia type 42 localisation d'une constatation (attribut) structure cérébelleuse true Inferred relationship Some 1
Spinocerebellar ataxia type 42 morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 42 localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 2
Spinocerebellar ataxia type 42 morphologie associée (attribut) Degenerative abnormality 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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