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719817002: ataxie spinocérébelleuse liée à l'X type 3 (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
1015451000172113 SCAX3 - X-linked spinocerebellar ataxia type 3 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3318013012 X-linked spinocerebellar ataxia type 3 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318014018 X-linked spinocerebellar ataxia type 3 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318019011 X-linked ataxia deafness syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
754891000241119 ataxie spinocérébelleuse liée à l'X type 3 (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
940511000172115 ataxie spinocérébelleuse liée à l'X type 3 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3318020017 This syndrome is a form of spinocerebellar degeneration with onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia and optic atrophy and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait. 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
X-linked spinocerebellar ataxia type 3 (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
X-linked spinocerebellar ataxia type 3 (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 2
X-linked spinocerebellar ataxia type 3 (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
X-linked spinocerebellar ataxia type 3 (disorder) est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
X-linked spinocerebellar ataxia type 3 (disorder) est un(e) (attribut) Sensorineural hearing loss true Inferred relationship Some
X-linked spinocerebellar ataxia type 3 (disorder) localisation d'une constatation (attribut) structure du système auditif true Inferred relationship Some 3
X-linked spinocerebellar ataxia type 3 (disorder) interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 4
X-linked spinocerebellar ataxia type 3 (disorder) est un(e) (attribut) X-linked recessive hereditary disease true Inferred relationship Some
X-linked spinocerebellar ataxia type 3 (disorder) est un(e) (attribut) Hereditary cerebellar degeneration false Inferred relationship Some
X-linked spinocerebellar ataxia type 3 (disorder) est un(e) (attribut) X-linked hereditary disease false Inferred relationship Some
X-linked spinocerebellar ataxia type 3 (disorder) est un(e) (attribut) ataxie spinocérébelleuse dominante true Inferred relationship Some
X-linked spinocerebellar ataxia type 3 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 2
X-linked spinocerebellar ataxia type 3 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 3
X-linked spinocerebellar ataxia type 3 (disorder) localisation d'une constatation (attribut) structure cérébelleuse true Inferred relationship Some 2
X-linked spinocerebellar ataxia type 3 (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) 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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