Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

CodeSystem: Molecular Biomarker Ontology Codes (Experimental)

Official URL: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/molecular-biomarker-ontology-cs Version: 3.0.0-ballot
Active as of 2023-12-18 Computable Name: MolecularBiomarkerOntologyCS

This (experimental) code system provides for a draft categorization of biomarkers along several axes. Based on ballot feedback, the committee anticipates significant revisions.

This Code system is referenced in the content logical definition of the following value sets:

This case-sensitive code system http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/molecular-biomarker-ontology-cs defines the following codes in a Is-A heirarchy:

LvlCodeDisplayDefinition
1_physiologyBiomarkerCategory Molecular biomarker physiologic role categoryA category based on the normal bodily function of the biomarker.
2  antibody antibody categoryMolecular biomarker physiologic role is an antibody.
2  antgen antigen categoryMolecular biomarker physiologic role is an antigen.
2  cellReceptor cell receptor categoryMolecular biomarker physiologic role is a cell receptor.
2  cellReceptorLigand cell receptor ligand categoryMolecular biomarker physiologic role is a cell receptor ligand.
1_moleculeTypeBiomarkerCategory Molecular biomarker molecular type categoryA category based on the type of biomarker molecule.
2  carbohydrate carbohydrate categoryMolecular biomarker molecule type is a carbohydrate.
2  lipid lipid categoryMolecular biomarker molecule type is a lipid.
2  nucleicAcid nucleic acid categoryMolecular biomarker molecule type is a nucleic acid.
2  protein protein categoryMolecular biomarker molecule type is a protein. Includes single or multi-subunit proteins with or without post-translational modifications.
1_methodBiomarkerCategory Molecular biomarker method type categoryA category based on the measurement ascertainment method of the biomarker. (Methods are drawn from LOINC (https://loinc.org/kb/users-guide/major-parts-of-a-loinc-term/#type-of-method-6th-part) and NCBI Genetic Testing Registry (https://www.ncbi.nlm.nih.gov/gtr/)).
2  enzymeAssay enzyme assay categoryMolecular biomarker method is enzyme assay.
2  flowCytometry flow cytometry categoryMolecular biomarker method is flow cytometry.
2  immuneStain immune stain categoryMolecular biomarker method is immune stain.
2  immunoassay immunoassay categoryMolecular biomarker method is immunoassay.
2  methylationAnalysis methylation analysis categoryMolecular biomarker method is methylation analysis.
2  molgen molecular sequence adjacent categoryMolecular biomarker method is molecular sequence adjacent observation.