Genomics Reporting Implementation Guide
1.1.0 - Ballot

This page is part of the Genetic Reporting Implementation Guide (v1.1.0: STU 2 Ballot 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

ValueSet: HGVS Value Set

Summary

Defining URL:http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs
Version:1.1.0
Name:HGVSVS
Title:Human Genome Variation Society (HGVS) Nomenclature
Status:Active as of 2021-04-13T19:13:37+00:00
Definition:

HGVS-nomenclature is used to report and exchange information regarding variants found in DNA, RNA and protein sequences and serves as an international standard. (source: varnomen.hgvs.org)

Publisher:HL7 International Clinical Genomics Work Group
Source Resource:XML / JSON / Turtle

References

Logical Definition (CLD)

 

Expansion

This value set contains 0 concepts

CodeSystemDisplay

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