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718774001: Spinocerebellar ataxia type 21 (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
3313814016 Spinocerebellar ataxia type 21 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313815015 Spinocerebellar ataxia type 21 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313816019 A very rare subtype of type I autosomal dominant cerebellar ataxia with characteristics of slowly progressive cerebellar ataxia, mild cognitive impairment, postural and or resting tremor, bradykinesia, and rigidity. Prevalence is unknown. Fewer than 20 cases in a 4-generation French family have been reported to date. Maps to chromosome 7p21.3-p15.1 but the gene and gene mutation have not been identified. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3888271000052110 spinocerebellär ataxi, typ 21 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 21 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 21 (disorder) Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 21 (disorder) Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 21 (disorder) Associated morphology degeneration false Inferred relationship Some 2
Spinocerebellar ataxia type 21 (disorder) Associated morphology degeneration false Inferred relationship Some 3
Spinocerebellar ataxia type 21 (disorder) Finding site Cerebellar structure true Inferred relationship Some 2
Spinocerebellar ataxia type 21 (disorder) Finding site Spinal cord structure false Inferred relationship Some 3
Spinocerebellar ataxia type 21 (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Some 1
Spinocerebellar ataxia type 21 (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Some 2
Spinocerebellar ataxia type 21 (disorder) Finding site Spinal cord structure 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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