448045004: syndrome tremblement-ataxie lié à une prémutation de l'X fragile (trouble)

SNOMED CT Concept\constatation clinique\...

\Finding related to coordination / incoordination (finding)\Ataxia\...

\Hereditary ataxia (disorder)\Fragile X associated tremor ataxia syndrome (disorder)

\Cerebellar ataxia\Fragile X associated tremor ataxia syndrome (disorder)

\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Fragile X associated tremor ataxia syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Fragile X associated tremor ataxia syndrome (disorder)

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Fragile X associated tremor ataxia syndrome (disorder)

\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Fragile X associated tremor ataxia syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Fragile X associated tremor ataxia syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\Fragile X associated tremor ataxia syndrome (disorder)
\Disease\affection dégénérative\Fragile X associated tremor ataxia syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Fragile X associated tremor ataxia syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Fragile X associated tremor ataxia syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\System disorder of the nervous system (disorder)\Fragile X associated tremor ataxia syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Fragile X associated tremor ataxia syndrome (disorder)
\Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Fragile X associated tremor ataxia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2011. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fragile X associated tremor ataxia syndrome (disorder)	est un(e) (attribut)	X-linked dominant hereditary disease (disorder)	true	Inferred relationship	Some
Fragile X associated tremor ataxia syndrome (disorder)	est un(e) (attribut)	affection dégénérative	true	Inferred relationship	Some
Fragile X associated tremor ataxia syndrome (disorder)	est un(e) (attribut)	System disorder of the nervous system (disorder)	true	Inferred relationship	Some
Fragile X associated tremor ataxia syndrome (disorder)	morphologie associée (attribut)	Degenerative abnormality	true	Inferred relationship	Some	1
Fragile X associated tremor ataxia syndrome (disorder)	localisation d'une constatation (attribut)	système nerveux	true	Inferred relationship	Some	1
Fragile X associated tremor ataxia syndrome (disorder)	est un(e) (attribut)	Cerebellar ataxia	true	Inferred relationship	Some
Fragile X associated tremor ataxia syndrome (disorder)	est un(e) (attribut)	X-linked hereditary disease	false	Inferred relationship	Some
Fragile X associated tremor ataxia syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of nervous system	false	Inferred relationship	Some
Fragile X associated tremor ataxia syndrome (disorder)	est un(e) (attribut)	Hereditary ataxia (disorder)	true	Inferred relationship	Some
Fragile X associated tremor ataxia syndrome (disorder)	localisation d'une constatation (attribut)	structure cérébelleuse	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
2898386017	Fragile X associated tremor ataxia syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2900005013	Fragile X associated tremor ataxia syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
722721000241115	syndrome tremblement-ataxie lié à une prémutation de l'X fragile (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
893521000172116	syndrome tremblement-ataxie lié à une prémutation de l'X fragile	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
955781000172110	syndrome FXTAS (fragile X-associated tremor/ataxia)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)