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718774001: Spinocerebellar ataxia type 21 (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3313815015 Spinocerebellar ataxia type 21 en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spinocerebellar ataxia type 21 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 21 Associated morphology Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 21 Finding site Spinal cord structure true Inferred relationship Some 1
Spinocerebellar ataxia type 21 Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 21 Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 21 Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 21 Associated morphology Degeneration false Inferred relationship Some 2
Spinocerebellar ataxia type 21 Associated morphology Degeneration false Inferred relationship Some 3
Spinocerebellar ataxia type 21 Finding site Cerebellar structure true Inferred relationship Some 2
Spinocerebellar ataxia type 21 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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