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719301002: Spinocerebellar ataxia type 37 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3315913013 Spinocerebellar ataxia type 37 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315914019 Spinocerebellar ataxia type 37 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315915018 Spinocerebellar ataxia with altered vertical eye movement en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402064012 An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402065013 An autosomal dominant cerebellar ataxia type 1 that is characterised by a cerebellar syndrome along with altered vertical eye movements. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315913013 Spinocerebellar ataxia type 37 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315913013 Spinocerebellar ataxia type 37 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315914019 Spinocerebellar ataxia type 37 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315914019 Spinocerebellar ataxia type 37 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315915018 Spinocerebellar ataxia with altered vertical eye movement en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315915018 Spinocerebellar ataxia with altered vertical eye movement en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315916017 Disease with characteristics of cerebellar syndrome along with altered vertical eye movements. Reported in nine members of Spanish kindred to date. Disease onset occurs in adulthood (from the ages of 38-64). Clinical manifestations are slowly progressive cerebellar ataxia (starting with falls, dysarthria and clumsiness followed by other cerebellar signs) along with altered vertical eye movements. The causal gene is unknown but it has been mapped to chromosome 1p32 and named the SCA37 locus. Inherited in an autosomal dominant manner. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402064012 An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402065013 An autosomal dominant cerebellar ataxia type 1 that is characterised by a cerebellar syndrome along with altered vertical eye movements. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3436311001000116 Ataxie, spinozerebelläre, Typ 37 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
899261000172113 ataxie spinocérébelleuse avec mouvements oculaires verticaux anormaux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
942181000172117 ataxie spinocérébelleuse type 37 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
899261000172113 ataxie spinocérébelleuse avec mouvements oculaires verticaux anormaux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
942181000172117 ataxie spinocérébelleuse type 37 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3436311001000116 Ataxie, spinozerebelläre, Typ 37 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 37 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 37 (disorder) Is a Hereditary cerebellar degeneration false Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 37 (disorder) Is a Spinocerebellar ataxia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 37 (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 37 (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 3
Spinocerebellar ataxia type 37 (disorder) Finding site Cerebellar structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 37 (disorder) Finding site Spinal cord structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Spinocerebellar ataxia type 37 (disorder) Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 37 (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 37 (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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