448045004: Fragile X associated tremor ataxia syndrome (disorder)

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

\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)

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

\Finding of head and neck region\Head finding (finding)\...

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Fragile X associated tremor ataxia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary 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\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Fragile X associated tremor ataxia syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Fragile X associated tremor ataxia syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\System disorder of the nervous system (disorder)\Fragile X associated tremor ataxia syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Fragile X associated tremor ataxia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\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:

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

893521000172116 syndrome tremblement-ataxie lié à une prémutation de l'X fragile fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

955781000172110 syndrome FXTAS (fragile X-associated tremor/ataxia) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

967941000172115 fragiele X-geassocieerde tremor/ataxiesyndroom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

1011561000172114 FXTAS (fragiele X-geassocieerde tremor/ataxie)-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

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	Some
Fragile X associated tremor ataxia syndrome (disorder)	Is a	System disorder of the nervous system (disorder)	true	Inferred relationship	Some
Fragile X associated tremor ataxia syndrome (disorder)	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Fragile X associated tremor ataxia syndrome (disorder)	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Fragile X associated tremor ataxia syndrome (disorder)	Is a	Cerebellar ataxia	true	Inferred relationship	Some
Fragile X associated tremor ataxia syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Fragile X associated tremor ataxia syndrome (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Fragile X associated tremor ataxia syndrome (disorder)	Is a	Hereditary ataxia (disorder)	true	Inferred relationship	Some
Fragile X associated tremor ataxia syndrome (disorder)	Finding site	Cerebellar structure	true	Inferred relationship	Some	2
Fragile X associated tremor ataxia syndrome (disorder)	Is a	X-linked dominant hereditary disease (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Belgian subset for medical problems in patient health records