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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
5399840011 Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by 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
5399841010 Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterised by 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
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
5399840011 Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by 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
5399841010 Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterised by 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
3427721001000113 Ataxie, spinozerebelläre, Typ 41 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3427721001000113 Ataxie, spinozerebelläre, Typ 41 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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