230320008: Autosomal recessive idiopathic familial dystonia (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia

\Finding of movement\Movement disorder\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive idiopathic familial dystonia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive idiopathic familial dystonia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive idiopathic familial dystonia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Autosomal recessive idiopathic familial dystonia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia
\Disease\Familial disease (disorder)\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia
\Disease\Movement disorder\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia
\Disease\Idiopathic disease\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

345148016 Autosomal recessive idiopathic familial dystonia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

618110010 Autosomal recessive idiopathic familial dystonia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1774081000005116 autosomal recessiv idiopatisk familiær dystoni da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive idiopathic familial dystonia	Is a	Idiopathic familial dystonia	true	Inferred relationship	Some
Autosomal recessive idiopathic familial dystonia	Finding site	Extrapyramidal system structure	true	Inferred relationship	Some	1
Autosomal recessive idiopathic familial dystonia	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Autosomal recessive idiopathic familial dystonia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive idiopathic familial dystonia	Interprets	Movement	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare isolated dystonia characterized by segmental dystonia that predominantly affects the distal limbs and leads to abnormal posture. This disease has a progressive clinical course and may develop into generalized dystonia but remains mild overall.	Is a	True	Autosomal recessive idiopathic familial dystonia	Inferred relationship	Some
A very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.	Is a	True	Autosomal recessive idiopathic familial dystonia	Inferred relationship	Some
A rare genetic isolated dystonia initially presenting as torticollis and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.	Is a	True	Autosomal recessive idiopathic familial dystonia	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
345148016	Autosomal recessive idiopathic familial dystonia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
618110010	Autosomal recessive idiopathic familial dystonia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1774081000005116	autosomal recessiv idiopatisk familiær dystoni	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)