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719276005: Primary dystonia type 4 (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
3315803016 Primary dystonia type 4 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315804010 Primary dystonia type 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315805011 Primary dystonia DYT4 type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315806012 Hereditary whispering dysphonia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402049012 DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402050012 DYT4 type primary dystonia is characterised by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315803016 Primary dystonia type 4 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315803016 Primary dystonia type 4 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315804010 Primary dystonia type 4 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315804010 Primary dystonia type 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315805011 Primary dystonia DYT4 type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315806012 Hereditary whispering dysphonia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315806012 Hereditary whispering dysphonia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315807015 DYT4 type primary dystonia has characteristics of predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis). So far, the disease has been reported in one large Australian family. The age of onset varies from 13 to 37 years. The locus for DYT4 remains unknown. The disease is transmitted in an autosomal dominant manner. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402049012 DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402050012 DYT4 type primary dystonia is characterised by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3423861001000115 Dystonie, primäre, Typ DYT4 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6495431000241117 dystonie primaire de type DYT4 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6495441000241110 dystonie primaire de type 4 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6495431000241117 dystonie primaire de type DYT4 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6495441000241110 dystonie primaire de type 4 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3423861001000115 Dystonie, primäre, Typ DYT4 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Primary dystonia type 4 (disorder) Is a Autosomal dominant idiopathic familial dystonia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Primary dystonia type 4 (disorder) Finding site Extrapyramidal system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary dystonia type 4 (disorder) Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 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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