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719210007: Spinocerebellar ataxia type 14 (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3315426017 Spinocerebellar ataxia type 14 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3315427014 Spinocerebellar ataxia type 14 en Synonym Active Case insensitive SNOMED CT core
3315428016 A rare disease with manifestations of slowly progressive ataxia, dysarthria and nystagmus. The disease has been reported in more than twenty families from Europe, the United States, and Australia. Onset is usually in early adulthood while symptomatic disease onset may be from 10 to 70 years. In addition to cerebellar signs, hyperreflexia and decreased vibration sense are frequently observed. Caused by missense mutations in the PRKCG gene (19q13.4) encoding protein kinase C gamma (PKC-gamma). 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 14 Finding site Spinal cord structure true Inferred relationship Some 1
Spinocerebellar ataxia type 14 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 14 Associated morphology Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 14 Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 14 Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 14 Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 14 Associated morphology Degeneration false Inferred relationship Some 2
Spinocerebellar ataxia type 14 Associated morphology Degeneration false Inferred relationship Some 3
Spinocerebellar ataxia type 14 Finding site Cerebellar structure true Inferred relationship Some 2
Spinocerebellar ataxia type 14 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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