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718772002: Spinocerebellar ataxia type 23 (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
3313804013 Spinocerebellar ataxia type 23 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313805014 Spinocerebellar ataxia type 23 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3902771000052113 spinocerebellär ataxi, typ 23 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spinocerebellar ataxia type 23 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 23 (disorder) Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 23 (disorder) Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 23 (disorder) Associated morphology degeneration false Inferred relationship Some 2
Spinocerebellar ataxia type 23 (disorder) Associated morphology degeneration false Inferred relationship Some 3
Spinocerebellar ataxia type 23 (disorder) Finding site Cerebellar structure true Inferred relationship Some 2
Spinocerebellar ataxia type 23 (disorder) Finding site Spinal cord structure false Inferred relationship Some 3
Spinocerebellar ataxia type 23 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Spinocerebellar ataxia type 23 (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Some 2
Spinocerebellar ataxia type 23 (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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