FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
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
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
947961000172112 ataxie spinocérébelleuse non progressive congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1012291000172114 ataxie spinocérébelleuse type 29 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3410861001000116 Ataxie, spinozerebelläre, Typ 29 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. Is a Hereditary cerebellar degeneration false Inferred relationship Some
An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. Is a Spinocerebellar ataxia true Inferred relationship Some
An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. Associated morphology dégénérescence false Inferred relationship Some 2
An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. Finding site Spinal cord structure false Inferred relationship Some 2
An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. Associated morphology dégénérescence false Inferred relationship Some 3
An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. Finding site Cerebellar structure false Inferred relationship Some 3
An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. Finding site Spinal cord structure true Inferred relationship Some 1
An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. Finding site Cerebellar structure true Inferred relationship Some 2
An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. Associated morphology Degenerative abnormality true Inferred relationship Some 2
An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. 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)

Back to Start