46808003: hereditaire cerebellaire ataxie van Pierre Marie (aandoening)

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

\Finding related to coordination / incoordination (finding)\Ataxia\Hereditary ataxia (disorder)\Episodic ataxia (disorder)\Marie's cerebellar ataxia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Episodic ataxia (disorder)\Marie's cerebellar ataxia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Episodic ataxia (disorder)\Marie's cerebellar ataxia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Episodic ataxia (disorder)\Marie's cerebellar ataxia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Episodic ataxia (disorder)\Marie's cerebellar ataxia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

78021014 Marie's cerebellar ataxia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

78022019 Hereditary cerebellar ataxia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

784198019 Marie's cerebellar ataxia (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

2837795011 Marie cerebellar ataxia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2290091000146119 erfelijke cerebellaire ataxie van Pierre Marie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8617691000146117 hereditaire cerebellaire ataxie van Pierre Marie (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8647681000146112 hereditaire cerebellaire ataxie van Pierre Marie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Marie's cerebellar ataxia	Is a	Cerebellar ataxia	false	Inferred relationship	Some
Marie's cerebellar ataxia	Associated morphology	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	1
Marie's cerebellar ataxia	Finding site	Cerebellar structure	false	Inferred relationship	Some	1
Marie's cerebellar ataxia	Is a	Episodic ataxia (disorder)	true	Inferred relationship	Some
Marie's cerebellar ataxia	Associated morphology	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	1
Marie's cerebellar ataxia	Finding site	Cerebellar structure	false	Inferred relationship	Some
Marie's cerebellar ataxia	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets