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719278006: 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
5402051011 A rare primary torsion dystonia characterized by focal or segmental dystonia with onset either in the cranial-cervical region or in the upper limbs. Age of onset varies between 5 years and adulthood, with a mean age of onset of 16 years. Clinical manifestations are generally mild and slowly progressive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402052016 A rare primary torsion dystonia characterised by focal or segmental dystonia with onset either in the cranial-cervical region or in the upper limbs. Age of onset varies between 5 years and adulthood, with a mean age of onset of 16 years. Clinical manifestations are generally mild and slowly progressive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Primary dystonia type 13 (disorder) Is a Autosomal dominant idiopathic familial dystonia (disorder) true Inferred relationship Some
Primary dystonia type 13 (disorder) Finding site Extrapyramidal system structure true Inferred relationship Some 1
Primary dystonia type 13 (disorder) Interprets Movement true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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