715777007: primaire dystonie type 2 (aandoening)

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\Primary dystonia type 2 (disorder)
\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\Primary dystonia type 2 (disorder)

\Finding of movement (finding)\Movement disorder\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia\Primary dystonia type 2 (disorder)

\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\Primary dystonia type 2 (disorder)
\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\Primary dystonia type 2 (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive idiopathic familial dystonia\Primary dystonia type 2 (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive idiopathic familial dystonia\Primary dystonia type 2 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive idiopathic familial dystonia\Primary dystonia type 2 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Autosomal recessive idiopathic familial dystonia\Primary dystonia type 2 (disorder)
\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\Primary dystonia type 2 (disorder)
\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\Primary dystonia type 2 (disorder)
\Disease\Familial disease\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia\Primary dystonia type 2 (disorder)
\Disease\Movement disorder\Extrapyramidal disease\Dystonia\Torsion dystonia (disorder)\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia\Primary dystonia type 2 (disorder)
\Disease\Idiopathic disease\Idiopathic torsion dystonia (disorder)\Idiopathic familial dystonia\Autosomal recessive idiopathic familial dystonia\Primary dystonia type 2 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Primary dystonia type 2 (disorder)	Is a	Autosomal recessive idiopathic familial dystonia	true	Inferred relationship	Some
Primary dystonia type 2 (disorder)	Finding site	Extrapyramidal system structure	true	Inferred relationship	Some	1
Primary dystonia type 2 (disorder)	Interprets	Movement	true	Inferred relationship	Some	2

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
3303681014	Primary dystonia type 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303682019	Primary dystonia type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303683012	Primary dystonia DYT2 type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6418141000146110	primaire dystonie type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6418151000146113	primaire dystonie type 2 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6418161000146111	primaire dystonie type DYT2	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3303684018	Segmental dystonia that manifests with involuntary posturing affecting predominantly the feet. The exact prevalence is unknown. The disease is reported in a limited number of Jewish and Gypsy families. The onset of the symptoms is early in childhood or adolescence.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core