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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


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 Some
Spinocerebellar ataxia type 40 (disorder) Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia type 40 (disorder) Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 40 (disorder) Associated morphology Degeneration false Inferred relationship Some 2
Spinocerebellar ataxia type 40 (disorder) Finding site Cerebellar structure false Inferred relationship Some 2
Spinocerebellar ataxia type 40 (disorder) Associated morphology Degeneration false Inferred relationship Some 3
Spinocerebellar ataxia type 40 (disorder) Finding site Spinal cord structure false Inferred relationship Some 3
Spinocerebellar ataxia type 40 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 40 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 40 (disorder) Finding site Cerebellar structure true Inferred relationship Some 1
Spinocerebellar ataxia type 40 (disorder) Finding site Spinal cord structure true Inferred relationship Some 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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