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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
13744881000172117 spinocerebellaire ataxie type 41 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
14264391000172113 SCA41 - spinocerebellaire ataxie type 41 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spinocerebellar ataxia type 41 Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 41 Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 41 Finding site Cerebellar structure true Inferred relationship Some 1
Spinocerebellar ataxia type 41 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 41 Finding site Spinal cord structure true Inferred relationship Some 2
Spinocerebellar ataxia type 41 Associated morphology Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 41 Is a Chronic brain syndrome true Inferred relationship Some
Spinocerebellar ataxia type 41 Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Spinocerebellar ataxia type 41 Is a Chronic disorder of spinal cord (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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