Genomics Reporting Implementation Guide
3.0.0 - release 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 3.0.0 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: Molecular Biomarker Codes

Official URL: http://hl7.org/fhir/uv/genomics-reporting/ValueSet/molecular-biomarker-code-vs Version: 3.0.0
Active as of 2024-11-24 Computable Name: MolecularBiomarkerCodeVS

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 can be used as Biomarkers.

References

Logical Definition (CLD)

Generated Narrative: ValueSet molecular-biomarker-code-vs

This value set includes codes based on the following rules:

  • Include these codes as defined in http://loinc.org
    CodeDisplay
    85337-4Estrogen receptor Ag Immune stain Ql (Breast cancer specimen)
    72382-5HER2 IA Qn (Tiss)
    77637-7HLA-A and B and C (class I) IgG panel IA [Identifier]
    40557-1Progesterone receptor Ag Immune stain Ql (Tiss)
    85147-7PD-L1 by clone 22C3 Immune stain Doc (Tiss)
    59025-7Neutrophil Ab FC Qn (S)
    59003-4Lactoferrin Ab IA Qn (S)
    10495-0Insulin Ag Immune stain Ql (Tiss)
    16550-6Carbohydrates Nom (U)
    2569-2Lipids (S) [Mass/Vol]
    4551-8Hemoglobin A2 (Bld) [Mass fraction]
    19195-7Prostate specific Ag Qn
    64083-9MGMT gene methylation score Molgen (Tiss) [Ratio]
    62862-8Microsatellite instability Immune stain Ql (Tiss)
    81704-9Microsatellite instability marker D17S250 Ql (Cancer specimen)
    94077-5Tumor mutation burden Ql (Tumor) [Interp]
  • Include these codes as defined in http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl
    CodeDisplay
    C120465 Homologous Recombination Repair Deficiency

 

Expansion

Generated Narrative: ValueSet

Expansion based on Loinc v2.78

This value set contains 16 concepts

CodeSystemDisplay
  85337-4http://loinc.orgEstrogen receptor Ag [Presence] in Breast cancer specimen by Immune stain
  72382-5http://loinc.orgHER2 [Units/volume] in Tissue by Immunoassay
  77637-7http://loinc.orgHLA-A and B and C (class I) IgG panel [Identifier] - Serum or Plasma by Immunoassay
  40557-1http://loinc.orgProgesterone receptor Ag [Presence] in Tissue by Immune stain
  85147-7http://loinc.orgPD-L1 by clone 22C3 in Tissue by Immune stain Report
  59025-7http://loinc.orgNeutrophil Ab [Units/volume] in Serum by Flow cytometry (FC)
  59003-4http://loinc.orgLactoferrin Ab [Units/volume] in Serum by Immunoassay
  10495-0http://loinc.orgInsulin Ag [Presence] in Tissue by Immune stain
  16550-6http://loinc.orgCarbohydrates [Identifier] in Urine
  2569-2http://loinc.orgLipids [Mass/volume] in Serum
  4551-8http://loinc.orgHemoglobin A2/Hemoglobin.total in Blood
  19195-7http://loinc.orgProstate specific Ag [Units/volume] in Serum or Plasma
  64083-9http://loinc.orgMGMT gene methylation score in Tissue by Molecular genetics method
  62862-8http://loinc.orgMicrosatellite instability [Presence] in Tissue by Immune stain
  81704-9http://loinc.orgMicrosatellite instability marker D17S250 in Cancer specimen Qualitative
  94077-5http://loinc.orgTumor mutation burden [Interpretation]

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