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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
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
899261000172113 ataxie spinocérébelleuse avec mouvements oculaires verticaux anormaux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
942181000172117 ataxie spinocérébelleuse type 37 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
918271000172118 spinocerebellaire ataxie type 37 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
1009771000172110 SCA37 - spinocerebellaire ataxie type 37 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 37 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 37 (disorder) Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 37 (disorder) Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 37 (disorder) Associated morphology Degeneration false Inferred relationship Some 2
Spinocerebellar ataxia type 37 (disorder) Associated morphology Degeneration false Inferred relationship Some 3
Spinocerebellar ataxia type 37 (disorder) Finding site Cerebellar structure true Inferred relationship Some 2
Spinocerebellar ataxia type 37 (disorder) Finding site Spinal cord structure false Inferred relationship Some 3
Spinocerebellar ataxia type 37 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Spinocerebellar ataxia type 37 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 37 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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