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715726000: Spinocerebellar ataxia type 7 (disorder)


Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3303530011 Spinocerebellar ataxia type 7 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3303531010 Spinocerebellar ataxia type 7 en Synonym Active Case insensitive SNOMED CT core
3303532015 Ataxia with pigmentary retinopathy en Synonym Active Case insensitive SNOMED CT core
3303533013 Cerebellar syndrome pigmentary maculopathy en Synonym Active Case insensitive SNOMED CT core
3303534019 A neurodegenerative disorder with progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Manifestations that present in infancy and early childhood include muscle weakness, wasting, hypotonia, poor feeding, failure to thrive and loss of motor milestones. Inherited autosomal dominantly. The prognosis depends on the age of symptom onset. An earlier onset is associated with a more severe and rapidly progressive disease. 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 7 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 7 Finding site Cerebellar structure true Inferred relationship Some 2
Spinocerebellar ataxia type 7 Associated morphology Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 7 Finding site Spinal cord structure true Inferred relationship Some 1
Spinocerebellar ataxia type 7 Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 7 Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 7 Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 7 Associated morphology Degeneration false Inferred relationship Some 2
Spinocerebellar ataxia type 7 Associated morphology Degeneration false Inferred relationship Some 3
Spinocerebellar ataxia type 7 Finding site Spinal cord structure false Inferred relationship Some 2
Spinocerebellar ataxia type 7 Finding site Cerebellar 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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