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718769009: Spinocerebellar ataxia type 26 (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3313796010 Spinocerebellar ataxia type 26 en Synonym Active Case insensitive SNOMED CT core
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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spinocerebellar ataxia type 26 Finding site Spinal cord structure true Inferred relationship Some 1
Spinocerebellar ataxia type 26 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 26 Associated morphology Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 26 Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 26 Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 26 Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 26 Associated morphology Degeneration false Inferred relationship Some 2
Spinocerebellar ataxia type 26 Associated morphology Degeneration false Inferred relationship Some 3
Spinocerebellar ataxia type 26 Finding site Cerebellar structure true Inferred relationship Some 2
Spinocerebellar ataxia type 26 Finding site Spinal cord structure false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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