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718769009: spinocerebellaire ataxie type 26 (aandoening)


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
3313795014 Spinocerebellar ataxia type 26 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313796010 Spinocerebellar ataxia type 26 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6162791000146116 spinocerebellaire ataxie type 26 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6162801000146117 spinocerebellaire ataxie type 26 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6162811000146115 SCA26 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3313797018 A very rare subtype of autosomal dominant cerebellar ataxia type 3 with characteristics of late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. To date, only 23 affected patients have been described from one American family of Norwegian descent. Disease onset occurs between the ages of 26-60. A candidate gene has recently been identified as the eukaryotic translation elongation factor 2 (EEF2) gene, located on chromosome 19p13.3. Inherited autosomal dominantly. 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 26 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 26 (disorder) Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 26 (disorder) Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 26 (disorder) Associated morphology degeneratie (afwijkende morfologie) false Inferred relationship Some 2
Spinocerebellar ataxia type 26 (disorder) Associated morphology degeneratie (afwijkende morfologie) false Inferred relationship Some 3
Spinocerebellar ataxia type 26 (disorder) Finding site Cerebellar structure true Inferred relationship Some 2
Spinocerebellar ataxia type 26 (disorder) Finding site Spinal cord structure false Inferred relationship Some 3
Spinocerebellar ataxia type 26 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Spinocerebellar ataxia type 26 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 26 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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