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715726000: Spinocerebellar ataxia type 7 (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
5401057013 An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401058015 An autosomal dominant cerebellar ataxia type II that is characterised by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303530011 Spinocerebellar ataxia type 7 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303531010 Spinocerebellar ataxia type 7 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303532015 Ataxia with pigmentary retinopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303533013 Cerebellar syndrome pigmentary maculopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
925721000172110 ataxie spinocérébelleuse type 7 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
973111000172119 ataxie avec rétinopathie pigmentaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3392811001000111 Ataxie, spinozerebelläre, Typ 7 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
An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Is a Hereditary cerebellar degeneration false Inferred relationship Some
An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Is a Spinocerebellar ataxia true Inferred relationship Some
An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Associated morphology dégénérescence false Inferred relationship Some 2
An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Associated morphology dégénérescence false Inferred relationship Some 3
An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Finding site Spinal cord structure false Inferred relationship Some 2
An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Finding site Cerebellar structure false Inferred relationship Some 3
An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Associated morphology Degenerative abnormality true Inferred relationship Some 1
An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Finding site Cerebellar structure true Inferred relationship Some 2
An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Associated morphology Degenerative abnormality true Inferred relationship Some 2
An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Finding site Spinal cord structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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