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715726000: Spinocerebellar ataxia type 7 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3303531010 Spinocerebellar ataxia type 7 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303532015 Ataxia with pigmentary retinopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303533013 Cerebellar syndrome pigmentary maculopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401057013 An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401058015 An autosomal dominant cerebellar ataxia type II that is characterised by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spinocerebellar ataxia type 7 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 7 (disorder) Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 7 (disorder) Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 7 (disorder) Associated morphology Degeneration false Inferred relationship Some 2
Spinocerebellar ataxia type 7 (disorder) Associated morphology Degeneration false Inferred relationship Some 3
Spinocerebellar ataxia type 7 (disorder) Finding site Spinal cord structure false Inferred relationship Some 2
Spinocerebellar ataxia type 7 (disorder) Finding site Cerebellar structure false Inferred relationship Some 3
Spinocerebellar ataxia type 7 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 7 (disorder) Finding site Cerebellar structure true Inferred relationship Some 2
Spinocerebellar ataxia type 7 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 7 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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