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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
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


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

This concept is not in any reference sets

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