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718771009: Spinocerebellar ataxia type 20 (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3313801017 Spinocerebellar ataxia type 20 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3313802012 Spinocerebellar ataxia type 20 en Synonym Active Case insensitive SNOMED CT core
3313807018 A very rare subtype of type I autosomal dominant cerebellar ataxia with cerebellar dysarthria as the initial typical manifestation. Prevalence is unknown. Fewer than 20 cases in a 4-generation Australian family of Anglo-Celtic descent have been reported to date. Age of symptomatic disease onset ranges from 19 to 64 years. Linked to chromosome 11q12.2-11q12.3. 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 20 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 20 Finding site Spinal cord structure true Inferred relationship Some 1
Spinocerebellar ataxia type 20 Associated morphology Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 20 Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 20 Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 20 Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 20 Associated morphology Degeneration false Inferred relationship Some 2
Spinocerebellar ataxia type 20 Associated morphology Degeneration false Inferred relationship Some 3
Spinocerebellar ataxia type 20 Finding site Cerebellar structure true Inferred relationship Some 2
Spinocerebellar ataxia type 20 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

Description inactivation indicator reference set

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