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719818007: ataxie spinocérébelleuse liée à l'X type 4 (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
3318021018 X-linked spinocerebellar ataxia type 4 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318022013 X-linked spinocerebellar ataxia type 4 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318023015 X-linked ataxia dementia syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
754901000241118 ataxie spinocérébelleuse liée à l'X type 4 (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
941261000172111 SCAX4 - X-linked 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)
957671000172110 ataxie spinocérébelleuse liée à l'X type 4 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3318024014 Spinocerebellar ataxia, X-linked, type 4 has characteristics of ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life. 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 4 (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
X-linked spinocerebellar ataxia type 4 (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
X-linked spinocerebellar ataxia type 4 (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 2
X-linked spinocerebellar ataxia type 4 (disorder) est un(e) (attribut) X-linked recessive hereditary disease true Inferred relationship Some
X-linked spinocerebellar ataxia type 4 (disorder) est un(e) (attribut) Hereditary cerebellar degeneration false Inferred relationship Some
X-linked spinocerebellar ataxia type 4 (disorder) est un(e) (attribut) X-linked hereditary disease false Inferred relationship Some
X-linked spinocerebellar ataxia type 4 (disorder) est un(e) (attribut) ataxie spinocérébelleuse dominante true Inferred relationship Some
X-linked spinocerebellar ataxia type 4 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 2
X-linked spinocerebellar ataxia type 4 (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 3
X-linked spinocerebellar ataxia type 4 (disorder) localisation d'une constatation (attribut) structure cérébelleuse true Inferred relationship Some 2
X-linked spinocerebellar ataxia type 4 (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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