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1279839002: Spinocerebellar ataxia type 46 (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
5234062014 SCA46 - spinocerebellar ataxia type 46 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5234063016 Spinocerebellar ataxia type 46 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5234064010 Spinocerebellar ataxia type 46 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5234065011 A rare autosomal dominant cerebellar ataxia with characteristics of slowly progressive late-onset cerebellar ataxia variably combined with sensory axonal neuropathy. Patients may present gait and limb ataxia, dysarthria, abnormal oculomotor function and distal sensory impairment. Cerebellar atrophy is typically mild or absent. 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 46 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia type 46 (disorder) Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia type 46 (disorder) Is a Chronic brain syndrome true Inferred relationship Some
Spinocerebellar ataxia type 46 (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Spinocerebellar ataxia type 46 (disorder) Finding site Cerebellar structure true Inferred relationship Some 1
Spinocerebellar ataxia type 46 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spinocerebellar ataxia type 46 (disorder) Finding site Spinal cord structure true Inferred relationship Some 2
Spinocerebellar ataxia type 46 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 2
Spinocerebellar ataxia type 46 (disorder) Is a Chronic disorder of spinal cord (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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