Genomics Reporting Implementation Guide (STU1)

This page is part of the Genetic Reporting Implementation Guide (v1.0.0: STU 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

Value Set /ValueSet/hgvs

Summary

Defining URL:http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs
Version:1.0.0
Name:HGVS
Definition:

This value set includes all HGVS Codes

Publisher:HL7 (Clinical Genomics)
Source Resource:XML / JSON / Turtle

Content Logical Definition

HGVS

This value set includes all HGVS Codes

This value set includes codes from the following code systems:

  • Include all codes defined in http://varnomen.hgvs.org

 

Expansion

No Expansion for this valueset (not supported by Publication Tooling)

Explanation of the columns that may appear on this page:

Level A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies
Source The source of the definition of the code (when the value set draws in codes defined elsewhere)
Code The code (used as the code in the resource instance)
Display The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application
Definition An explanation of the meaning of the concept
Comments Additional notes about how to use the code