230318005: Idiopathic familial dystonia (disorder)

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

\Finding of movement (finding)\Movement disorder\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\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
\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

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

\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia

\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\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
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia
\Disease\Familial disease\Idiopathic familial dystonia
\Disease\Movement disorder\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia
\Disease\Idiopathic disease\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

345146017 Idiopathic familial dystonia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

618108013 Idiopathic familial dystonia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2966681016 Genetic torsion dystonia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

357601000172113 dystonie idiopathique familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

8548621000172110 dystonie idiopathique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

477071000172118 idiopathische familiale dystonie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

8548611000172117 idiopathische dystonie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Idiopathic familial dystonia	Is a	Idiopathic torsion dystonia (disorder)	true	Inferred relationship	Some
Idiopathic familial dystonia	Finding site	Extrapyramidal system structure	true	Inferred relationship	Some	1
Idiopathic familial dystonia	Is a	Familial disease	true	Inferred relationship	Some
Idiopathic familial dystonia	Interprets	Movement	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal dominant idiopathic familial dystonia (disorder)	Is a	True	Idiopathic familial dystonia	Inferred relationship	Some
Autosomal recessive idiopathic familial dystonia	Is a	True	Idiopathic familial dystonia	Inferred relationship	Some
Adult-onset familial idiopathic dystonia (disorder)	Is a	True	Idiopathic familial dystonia	Inferred relationship	Some

Reference Sets

Belgian GP subset (foundation metadata concept)