Genomics Reporting Implementation Guide
4.0.0-ballot - STU 4 ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-ballot built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

ValueSet: Genetic Therapeutic Implications

Official URL: http://hl7.org/fhir/uv/genomics-reporting/ValueSet/genetic-therapeutic-implications-vs Version: 4.0.0-ballot
Standards status: Trial-use Maturity Level: 2 Computable Name: GeneticTherapeuticImplicationsVS

Copyright/Legal: This material contains content from LOINC (http://loinc.org). 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 http://loinc.org/license. 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.

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

References

Logical Definition (CLD)

This value set includes codes based on the following rules:

 

Expansion

Expansion from tx.fhir.org based on:

  • Loinc v2.81
  • SNOMED CT International edition 01-Feb 2025

This value set contains 21 concepts

CodeSystemDisplay
  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
  LA6676-6http://loinc.orgResistant
  LA6677-4http://loinc.orgResponsive
  LA9660-7http://loinc.orgPresumed resistant
  LA9661-5http://loinc.orgPresumed responsive
  LA6682-4http://loinc.orgUnknown Significance
  LA6675-8http://loinc.orgBenign
  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
  444734003http://snomed.info/sctDoes not meet eligibility criteria for clinical trial (finding)
  399223003http://snomed.info/sctPatient 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
System 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