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 in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

ValueSet: Genetic Therapeutic Implications


Defining URL:
Title:Genetic Therapeutic Implications
Status:Active as of 2022-05-09 04:53:07+0000

Value Set for terms that describe a predicted ramification based on the presence of associated molecular finding(s).

Publisher:HL7 Clinical Genomics Working Group

This material contains content from LOINC ( LOINC is copyright © 1995-2020, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at LOINC® is a registered United States trademark of Regenstrief Institute, Inc. This value set includes content from SNOMED CT, which is copyright © 2002+ International Health Terminology Standards Development Organisation (IHTSDO), and distributed by agreement between IHTSDO and HL7. Implementer use of SNOMED CT is not covered by this agreement.

Source Resource:XML / JSON / Turtle


Logical Definition (CLD)

This value set includes codes based on the following rules:



This value set contains 21 concepts

Expansion based on:

  • Loinc v2.72
  • SNOMED CT International edition 31-Mar 2022
  LA10315-2http://loinc.orgUltrarapid metabolizer
  LA25391-6http://loinc.orgNormal metabolizer
  LA25390-8http://loinc.orgRapid metabolizer
  LA10317-8http://loinc.orgIntermediate metabolizer
  LA9657-3http://loinc.orgPoor metabolizer
  LA19542-2http://loinc.orgLow Risk
  LA19541-4http://loinc.orgHigh Risk
  LA9660-7http://loinc.orgPresumed resistant
  LA9661-5http://loinc.orgPresumed responsive
  LA6682-4http://loinc.orgUnknown Significance
  LA6674-1http://loinc.orgPresumed Benign
  LA9662-3http://loinc.orgPresumed non-responsive
  LA25392-4http://loinc.orgIncreased function
  LA25393-2http://loinc.orgNormal function
  LA25395-7http://loinc.orgDecreased function
  LA25394-0http://loinc.orgPoor function
  444734003 not meet eligibility criteria for clinical trial (finding)
  399223003 eligible for clinical trial (finding)

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