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734020000: Spinocerebellar ataxia type 40 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3481917012 Spinocerebellar ataxia type 40 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3481918019 Spinocerebellar ataxia type 40 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403863012 Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403864018 Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterised by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3481917012 Spinocerebellar ataxia type 40 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3481918019 Spinocerebellar ataxia type 40 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3481919010 A very rare disease with characteristics of adult-onset unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403863012 Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403864018 Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterised by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3443761001000112 Ataxie, spinozerebelläre, Typ 40 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
977491000172111 SCA40 - spinocerebellar ataxia type 40 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
995501000172117 ataxie spinocérébelleuse type 40 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
977491000172111 SCA40 - spinocerebellar ataxia type 40 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
995501000172117 ataxie spinocérébelleuse type 40 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3443761001000112 Ataxie, spinozerebelläre, Typ 40 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
Spinocerebellar ataxia type 40 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 40 (disorder) Is a Hereditary cerebellar degeneration false Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 40 (disorder) Is a Spinocerebellar ataxia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 40 (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 40 (disorder) Finding site Cerebellar structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 40 (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 3
Spinocerebellar ataxia type 40 (disorder) Finding site Spinal cord structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Spinocerebellar ataxia type 40 (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 40 (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia type 40 (disorder) Finding site Cerebellar structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia type 40 (disorder) Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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