702445005: autosomaal recessieve spastische ataxie van Charlevoix-Saguenay (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding related to coordination / incoordination (finding)\Ataxia\Hereditary ataxia (disorder)\Autosomal recessive spastic ataxia of Charlevoix-Saguenay (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Autosomal recessive spastic ataxia of Charlevoix-Saguenay (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive spastic ataxia of Charlevoix-Saguenay (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Autosomal recessive spastic ataxia of Charlevoix-Saguenay (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Autosomal recessive spastic ataxia of Charlevoix-Saguenay (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2995543019 ARSACS - autosomal recessive spastic ataxia of Charlevoix-Saguenay en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2995634017 Autosomal recessive spastic ataxia of Charlevoix-Saguenay (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2995827016 Autosomal recessive spastic ataxia of Charlevoix-Saguenay en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3008990015 Spastic ataxia of Charlevoix-Saguenay en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

394471000146112 autosomaal recessieve spastische ataxie van Charlevoix-Saguenay nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

394481000146114 autosomaal recessieve spastische ataxie van Charlevoix-Saguenay (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

5335721000146112 ARSACS nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (disorder)	Is a	Ataxia	false	Inferred relationship	Some
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (disorder)	Is a	Hereditary ataxia (disorder)	true	Inferred relationship	Some
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (disorder)	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets