230320008: Autosomal recessive idiopathic familial dystonia (disorder)

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

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

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

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

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

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	Existential restriction modifier (core metadata concept)
Autosomal recessive idiopathic familial dystonia	Finding site	Extrapyramidal system structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive idiopathic familial dystonia	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive idiopathic familial dystonia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive idiopathic familial dystonia	Interprets	Movement	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Primary dystonia type 2	Is a	True	Autosomal recessive idiopathic familial dystonia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive dopa responsive dystonia (disorder)	Is a	True	Autosomal recessive idiopathic familial dystonia	Inferred relationship	Existential restriction modifier (core metadata concept)
Primary dystonia DYT17 type (disorder)	Is a	True	Autosomal recessive idiopathic familial dystonia	Inferred relationship	Existential restriction modifier (core metadata concept)

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
345148016	Autosomal recessive idiopathic familial dystonia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
4958161000241111	dystonie idiopathique familiale autosomique récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4958161000241111	dystonie idiopathique familiale autosomique récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module