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718772002: Spinocerebellar ataxia type 23 (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3313804013 Spinocerebellar ataxia type 23 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3313805014 Spinocerebellar ataxia type 23 en Synonym Active Case insensitive SNOMED CT core
3313806010 A very rare subtype of type I autosomal dominant cerebellar ataxia with characteristics of gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia. This subtype has only been described in 4 Dutch families. Age of onset is from 43 to 56 years. Maps to chromosome region 20p12.3-p13 and missense mutations in the prodynorphin PDYN gene appear to cause the disease. 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 23 Finding site Spinal cord structure true Inferred relationship Some 1
Spinocerebellar ataxia type 23 Associated morphology Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 23 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 23 Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 23 Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 23 Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 23 Associated morphology Degeneration false Inferred relationship Some 2
Spinocerebellar ataxia type 23 Associated morphology Degeneration false Inferred relationship Some 3
Spinocerebellar ataxia type 23 Finding site Cerebellar structure true Inferred relationship Some 2
Spinocerebellar ataxia type 23 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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