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718770005: Spinocerebellar ataxia type 25 (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3313798011 Spinocerebellar ataxia type 25 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3313799015 Spinocerebellar ataxia type 25 en Synonym Active Case insensitive SNOMED CT core
3313800016 A very rare subtype of type I autosomal dominant cerebellar ataxia with characteristics of cerebellar ataxia and prominent sensory neuropathy. Fewer than 10 cases in a 4-generation French family have been reported to date. Age of onset ranges from 1 to 39 years. The clinical features vary widely from sensory neuropathy with little cerebellar ataxia to cerebellar ataxia with little sensory neuropathy. Some patients exhibit gastrointestinal disorders such as vomiting and abdominal pain as initial symptoms. Scoliosis and urinary problems are also observed. Maps to chromosome 2p15-p21. 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 25 Finding site Spinal cord structure true Inferred relationship Some 1
Spinocerebellar ataxia type 25 Associated morphology Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 25 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 25 Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 25 Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 25 Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 25 Associated morphology Degeneration false Inferred relationship Some 2
Spinocerebellar ataxia type 25 Associated morphology Degeneration false Inferred relationship Some 3
Spinocerebellar ataxia type 25 Finding site Cerebellar structure true Inferred relationship Some 2
Spinocerebellar ataxia type 25 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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