719278006: Primary dystonia type 13 (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du mouvement\Movement disorder\Extrapyramidal disease\dystonie\Torsion dystonia (disorder)\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\Primary dystonia type 13 (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Torsion dystonia (disorder)\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\Primary dystonia type 13 (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Torsion dystonia (disorder)\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\Primary dystonia type 13 (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Torsion dystonia (disorder)\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\Primary dystonia type 13 (disorder)
• \affection de la tête\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Torsion dystonia (disorder)\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\Primary dystonia type 13 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal dominant idiopathic familial dystonia\Primary dystonia type 13 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant idiopathic familial dystonia\Primary dystonia type 13 (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal dominant idiopathic familial dystonia\Primary dystonia type 13 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Autosomal dominant idiopathic familial dystonia\Primary dystonia type 13 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Torsion dystonia (disorder)\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\Primary dystonia type 13 (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Torsion dystonia (disorder)\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\Primary dystonia type 13 (disorder)
• \Disease\Familial disease\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\Primary dystonia type 13 (disorder)
• \Disease\Movement disorder\Extrapyramidal disease\dystonie\Torsion dystonia (disorder)\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\Primary dystonia type 13 (disorder)
• \Disease\maladie idiopathique\Primary torsion dystonia\Idiopathic familial dystonia\Autosomal dominant idiopathic familial dystonia\Primary dystonia type 13 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3315811014	Primary dystonia type 13 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315812019	Primary dystonia type 13	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315813012	Primary dystonia DYT13 type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3315814018	Primary dystonia with mixed phenotype	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315815017	DYT13 type primary dystonia has characteristics of focal or segmental dystonia with cranial, cervical, or upper limb involvement. It has been reported in individuals from three generations of one large Italian family. Age of onset varied between 5 years and adulthood. The clinical manifestations were generally mild and slowly progressive. The causative gene locus has been identified on chromosome 1p36.13-1p36.32. Transmitted in an autosomal dominant manner.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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