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719301002: ataxie spinocérébelleuse type 37 (trouble)


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
754011000241115 ataxie spinocérébelleuse type 37 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
899261000172113 ataxie spinocérébelleuse avec mouvements oculaires verticaux anormaux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
942181000172117 ataxie spinocérébelleuse type 37 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spinocerebellar ataxia type 37 (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
Spinocerebellar ataxia type 37 (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 37 (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 37 (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 37 (disorder) est un(e) (attribut) Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 37 (disorder) est un(e) (attribut) ataxie spinocérébelleuse dominante true Inferred relationship Some
Spinocerebellar ataxia type 37 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 2
Spinocerebellar ataxia type 37 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 3
Spinocerebellar ataxia type 37 (disorder) localisation d'une constatation (attribut) structure cérébelleuse true Inferred relationship Some 2
Spinocerebellar ataxia type 37 (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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