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719251009: Spinocerebellar ataxia type 19 (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3315686012 Spinocerebellar ataxia type 19 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3315687015 Spinocerebellar ataxia type 19 en Synonym Active Case insensitive SNOMED CT core
3315688013 Disease with characteristics of mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor. Prevalence is unknown. Only 12 cases in a 5-generation Dutch family have been reported to date. SCA19 presents in the third decade of life with symptomatic disease onset ranging from 10 to 46 years. Onset symptoms of SCA22 overlap significantly with those of SCA19 but with a more narrow age range of 35 to 46 years. Linkage to locus 1p21-q21 has been proposed but the gene mutation has 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 19 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 19 Finding site Spinal cord structure true Inferred relationship Some 1
Spinocerebellar ataxia type 19 Associated morphology Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 19 Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 19 Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 19 Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 19 Associated morphology Degeneration false Inferred relationship Some 2
Spinocerebellar ataxia type 19 Associated morphology Degeneration false Inferred relationship Some 3
Spinocerebellar ataxia type 19 Finding site Cerebellar structure true Inferred relationship Some 2
Spinocerebellar ataxia type 19 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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