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715755008: ataxie spinocérébelleuse type 4 (trouble)


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
3303616014 Spinocerebellar ataxia type 4 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303617017 Spinocerebellar ataxia type 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
748501000241116 ataxie spinocérébelleuse type 4 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
888131000172119 ataxie spinocérébelleuse type 4 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
970851000172118 SCA4 - spinocerebellar ataxia type 4 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3303618010 A very rare progressive and untreatable disease with manifestations of ataxia with sensory neuropathy. Prevalence is unknown, typically starts in middle-aged adults and presents with cerebellar ataxia, pyramidal signs, and peripheral sensory loss. The disease has been linked to chromosome 16q22.1 in kindreds from Utah (USA) and Germany but the mutation is yet unknown and does not appear to involve trinucleotide repeats. 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 4 (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 4 (disorder) localisation d'une constatation (attribut) structure cérébelleuse true Inferred relationship Some 2
Spinocerebellar ataxia type 4 (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
Spinocerebellar ataxia type 4 (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 4 (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 4 (disorder) est un(e) (attribut) Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 4 (disorder) est un(e) (attribut) ataxie spinocérébelleuse dominante true Inferred relationship Some
Spinocerebellar ataxia type 4 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 2
Spinocerebellar ataxia type 4 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 3
Spinocerebellar ataxia type 4 (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) false Inferred relationship Some 2
Spinocerebellar ataxia type 4 (disorder) localisation d'une constatation (attribut) structure cérébelleuse false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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