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715825009: Spinocerebellar ataxia type 29 (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
3303832010 Spinocerebellar ataxia type 29 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303833017 Spinocerebellar ataxia type 29 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303834011 Congenital nonprogressive spinocerebellar ataxia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401126011 An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401127019 An autosomal dominant cerebellar ataxia type I that is characterised by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. 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 29 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 29 (disorder) Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 29 (disorder) Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 29 (disorder) Associated morphology Degeneration false Inferred relationship Some 2
Spinocerebellar ataxia type 29 (disorder) Finding site Spinal cord structure false Inferred relationship Some 2
Spinocerebellar ataxia type 29 (disorder) Associated morphology Degeneration false Inferred relationship Some 3
Spinocerebellar ataxia type 29 (disorder) Finding site Cerebellar structure false Inferred relationship Some 3
Spinocerebellar ataxia type 29 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Spinocerebellar ataxia type 29 (disorder) Finding site Cerebellar structure true Inferred relationship Some 2
Spinocerebellar ataxia type 29 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 29 (disorder) Associated morphology Degenerative abnormality 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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