421182009: Episodic ataxia type 1 (disorder)

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

\Finding related to coordination / incoordination (finding)\Ataxia\Hereditary ataxia (disorder)\Episodic ataxia (disorder)\Episodic ataxia type 1 (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Episodic ataxia (disorder)\Episodic ataxia type 1 (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Episodic ataxia (disorder)\Episodic ataxia type 1 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Episodic ataxia (disorder)\Episodic ataxia type 1 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Episodic ataxia (disorder)\Episodic ataxia type 1 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2006. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2615505010 Episodic ataxia type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2618174016 Episodic ataxia type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2623022016 Episodic ataxia type 1 (EA1) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

902741000172117 ataxie épisodique type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

1017921000172117 ataxie épisodique avec myokymie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

929041000172118 episodische ataxie type 1 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

1021331000172116 episodische ataxie met myokymie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Episodic ataxia type 1 (disorder)	Is a	Episodic ataxia (disorder)	true	Inferred relationship	Some
Episodic ataxia type 1 (disorder)	Associated morphology	Degeneration	false	Inferred relationship	Some	1
Episodic ataxia type 1 (disorder)	Finding site	Cerebellar structure	false	Inferred relationship	Some	1
Episodic ataxia type 1 (disorder)	Associated morphology	Degeneration	false	Inferred relationship	Some	1
Episodic ataxia type 1 (disorder)	Finding site	Cerebellar structure	false	Inferred relationship	Some
Episodic ataxia type 1 (disorder)	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