448045004: Fragile X associated tremor ataxia syndrome (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Fragile X associated tremor ataxia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Fragile X associated tremor ataxia syndrome (disorder)

\Finding of coordination\Ataxia\...

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

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

\Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Fragile X associated tremor ataxia syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Fragile X associated tremor ataxia syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Fragile X associated tremor ataxia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\Fragile X associated tremor ataxia syndrome (disorder)
\Disease\Degenerative disorder\Fragile X associated tremor ataxia syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Fragile X associated tremor ataxia syndrome (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Fragile X associated tremor ataxia syndrome (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\System disorders of the nervous system\Fragile X associated tremor ataxia syndrome (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Fragile X associated tremor ataxia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\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)	Is a	Degenerative disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Fragile X associated tremor ataxia syndrome (disorder)	Is a	System disorders of the nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Fragile X associated tremor ataxia syndrome (disorder)	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fragile X associated tremor ataxia syndrome (disorder)	Finding site	Nervous system structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fragile X associated tremor ataxia syndrome (disorder)	Is a	Cerebellar ataxia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Fragile X associated tremor ataxia syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fragile X associated tremor ataxia syndrome (disorder)	Is a	Hereditary disorder of nervous system (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Fragile X associated tremor ataxia syndrome (disorder)	Is a	Hereditary ataxia (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Fragile X associated tremor ataxia syndrome (disorder)	Finding site	Cerebellar structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Fragile X associated tremor ataxia syndrome (disorder)	Is a	X-linked dominant hereditary disease (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
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
3392231001000116	Fragiles-X assoziiertes Tremor/Ataxie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
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 Switzerland NRC maintained Module
955781000172110	syndrome FXTAS (fragile X-associated tremor/ataxia)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
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 Switzerland NRC maintained Module
955781000172110	syndrome FXTAS (fragile X-associated tremor/ataxia)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3392231001000116	Fragiles-X assoziiertes Tremor/Ataxie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module