Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions

ValueSet: Molecular Consequence

Summary

Defining URL:http://hl7.org/fhir/uv/genomics-reporting/ValueSet/molecular-consequence-vs
Version:2.0.0
Name:MolecularConsequenceVS
Title:Molecular Consequence
Status:Active as of 2022-05-09 04:59:16+0000
Definition:

The calculated or observed effect of a variant on its downstream transcript and, if applicable, ensuing protein sequence.

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

References

Logical Definition (CLD)

 

Expansion

No Expansion for this valueset (Unknown Code System)

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