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719817002: X-linked spinocerebellar ataxia type 3 (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
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
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
940511000172115 ataxie spinocérébelleuse liée à l'X type 3 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
1015451000172113 SCAX3 - X-linked spinocerebellar ataxia type 3 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
906981000172114 SCAX3 - spinocerebellaire ataxie type 3, X-gebonden nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
947481000172112 X-gebonden spinocerebellaire ataxie type 3 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
X-linked spinocerebellar ataxia type 3 (disorder) Is a Hereditary cerebellar degeneration false Inferred relationship Some
X-linked spinocerebellar ataxia type 3 (disorder) Is a X-linked hereditary disease false Inferred relationship Some
X-linked spinocerebellar ataxia type 3 (disorder) Is a Spinocerebellar ataxia true Inferred relationship Some
X-linked spinocerebellar ataxia type 3 (disorder) Associated morphology Degeneration false Inferred relationship Some 2
X-linked spinocerebellar ataxia type 3 (disorder) Associated morphology Degeneration false Inferred relationship Some 3
X-linked spinocerebellar ataxia type 3 (disorder) Finding site Cerebellar structure true Inferred relationship Some 2
X-linked spinocerebellar ataxia type 3 (disorder) Finding site Spinal cord structure false Inferred relationship Some 3
X-linked spinocerebellar ataxia type 3 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
X-linked spinocerebellar ataxia type 3 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 2
X-linked spinocerebellar ataxia type 3 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
X-linked spinocerebellar ataxia type 3 (disorder) Is a Auditory system hereditary disorder true Inferred relationship Some
X-linked spinocerebellar ataxia type 3 (disorder) Is a Sensorineural hearing loss true Inferred relationship Some
X-linked spinocerebellar ataxia type 3 (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Some 3
X-linked spinocerebellar ataxia type 3 (disorder) Interprets Hearing true Inferred relationship Some 4
X-linked spinocerebellar ataxia type 3 (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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