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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
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
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 Only initial character case insensitive (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 Only initial character 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 Only initial character 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 Only initial character 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
3303534019 A neurodegenerative disorder with progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Manifestations that present in infancy and early childhood include muscle weakness, wasting, hypotonia, poor feeding, failure to thrive and loss of motor milestones. Inherited autosomal dominantly. The prognosis depends on the age of symptom onset. An earlier onset is associated with a more severe and rapidly progressive disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
3392811001000111 Ataxie, spinozerebelläre, Typ 7 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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
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
Spinocerebellar ataxia type 7 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 7 (disorder) Is a Hereditary cerebellar degeneration false Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 7 (disorder) Is a Spinocerebellar ataxia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 7 (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 7 (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 3
Spinocerebellar ataxia type 7 (disorder) Finding site Spinal cord structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 7 (disorder) Finding site Cerebellar structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Spinocerebellar ataxia type 7 (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 7 (disorder) Finding site Cerebellar structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 7 (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 7 (disorder) Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 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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