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1279840000: Spinocerebellar ataxia type 45 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5400716019 A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset gait and limb ataxia, dysarthria, and variable nystagmus. Brain imaging reveals cerebellar atrophy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400717011 A rare autosomal dominant cerebellar ataxia characterised by slowly progressive late-onset gait and limb ataxia, dysarthria, and variable nystagmus. Brain imaging reveals cerebellar atrophy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5234066012 Spinocerebellar ataxia type 45 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5234067015 Spinocerebellar ataxia type 45 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5234068013 SCA45 - spinocerebellar ataxia type 45 en Synonym (core metadata concept) 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
A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset gait and limb ataxia, dysarthria, and variable nystagmus. Brain imaging reveals cerebellar atrophy. Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset gait and limb ataxia, dysarthria, and variable nystagmus. Brain imaging reveals cerebellar atrophy. Is a Spinocerebellar ataxia true Inferred relationship Some
A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset gait and limb ataxia, dysarthria, and variable nystagmus. Brain imaging reveals cerebellar atrophy. Is a Chronic brain syndrome true Inferred relationship Some
A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset gait and limb ataxia, dysarthria, and variable nystagmus. Brain imaging reveals cerebellar atrophy. Clinical course Progressive true Inferred relationship Some 3
A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset gait and limb ataxia, dysarthria, and variable nystagmus. Brain imaging reveals cerebellar atrophy. Finding site Spinal cord structure true Inferred relationship Some 1
A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset gait and limb ataxia, dysarthria, and variable nystagmus. Brain imaging reveals cerebellar atrophy. Associated morphology Degenerative abnormality true Inferred relationship Some 1
A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset gait and limb ataxia, dysarthria, and variable nystagmus. Brain imaging reveals cerebellar atrophy. Finding site Cerebellar structure true Inferred relationship Some 2
A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset gait and limb ataxia, dysarthria, and variable nystagmus. Brain imaging reveals cerebellar atrophy. Associated morphology Atrophy true Inferred relationship Some 2
A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset gait and limb ataxia, dysarthria, and variable nystagmus. Brain imaging reveals cerebellar atrophy. Is a Chronic disorder of spinal cord (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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