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1208512000: Spinocerebellar ataxia type 41 (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
4964978016 Spinocerebellar ataxia type 41 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4964979012 Spinocerebellar ataxia type 41 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4964980010 A rare autosomal dominant cerebellar ataxia type III disorder with characteristics of adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging. 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 41 est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 41 est un(e) (attribut) ataxie spinocérébelleuse dominante true Inferred relationship Some
Spinocerebellar ataxia type 41 localisation d'une constatation (attribut) structure cérébelleuse true Inferred relationship Some 1
Spinocerebellar ataxia type 41 morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 41 localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 2
Spinocerebellar ataxia type 41 morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 41 est un(e) (attribut) Chronic brain syndrome true Inferred relationship Some
Spinocerebellar ataxia type 41 évolution clinique (attribut) progressif true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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