Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build
Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build
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-cibuild 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
| Page standards status: Trial-use | Maturity Level: 2 |
@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
# - resource -------------------------------------------------------------------
<http://hl7.org/fhir/ValueSet/molecular-biomarker-code-vs> a fhir:ValueSet ;
fhir:nodeRole fhir:treeRoot ;
fhir:Resource.id [ fhir:value "molecular-biomarker-code-vs"] ;
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ] ;
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet molecular-biomarker-code-vs</b></p><a name=\"molecular-biomarker-code-vs\"> </a><a name=\"hcmolecular-biomarker-code-vs\"> </a><p>This value set includes codes based on the following rules:</p><ul><li>Include these codes as defined in <a href=\"http://loinc.org\"><code>http://loinc.org</code></a><span title=\"Version is not explicitly stated. No matching Code System found\"> version Not Stated (use latest from terminology server)</span><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href=\"https://loinc.org/85337-4/\">85337-4</a></td><td>Estrogen receptor Ag [Presence] in Breast cancer specimen by Immune stain</td></tr><tr><td><a href=\"https://loinc.org/72382-5/\">72382-5</a></td><td>HER2 [Units/volume] in Tissue by Immunoassay</td></tr><tr><td><a href=\"https://loinc.org/77637-7/\">77637-7</a></td><td>HLA-A and B and C (class I) IgG panel [Identifier] - Serum or Plasma by Immunoassay</td></tr><tr><td><a href=\"https://loinc.org/40557-1/\">40557-1</a></td><td>Progesterone receptor Ag [Presence] in Tissue by Immune stain</td></tr><tr><td><a href=\"https://loinc.org/85147-7/\">85147-7</a></td><td>PD-L1 by clone 22C3 in Tissue by Immune stain Report</td></tr><tr><td><a href=\"https://loinc.org/59025-7/\">59025-7</a></td><td>Neutrophil Ab [Units/volume] in Serum by Flow cytometry (FC)</td></tr><tr><td><a href=\"https://loinc.org/59003-4/\">59003-4</a></td><td>Lactoferrin Ab [Units/volume] in Serum by Immunoassay</td></tr><tr><td><a href=\"https://loinc.org/10495-0/\">10495-0</a></td><td>Insulin Ag [Presence] in Tissue by Immune stain</td></tr><tr><td><a href=\"https://loinc.org/16550-6/\">16550-6</a></td><td>Carbohydrates [Identifier] in Urine</td></tr><tr><td><a href=\"https://loinc.org/2569-2/\">2569-2</a></td><td>Lipids [Mass/volume] in Serum</td></tr><tr><td><a href=\"https://loinc.org/4551-8/\">4551-8</a></td><td>Hemoglobin A2/Hemoglobin.total in Blood</td></tr><tr><td><a href=\"https://loinc.org/19195-7/\">19195-7</a></td><td>Prostate specific Ag [Units/volume] in Serum or Plasma</td></tr><tr><td><a href=\"https://loinc.org/64083-9/\">64083-9</a></td><td>MGMT gene methylation score in Tissue by Molecular genetics method</td></tr><tr><td><a href=\"https://loinc.org/62862-8/\">62862-8</a></td><td>Microsatellite instability [Presence] in Tissue by Immune stain</td></tr><tr><td><a href=\"https://loinc.org/81704-9/\">81704-9</a></td><td>Microsatellite instability marker D17S250 in Cancer specimen Qualitative</td></tr><tr><td><a href=\"https://loinc.org/94077-5/\">94077-5</a></td><td>Tumor mutation burden [Interpretation]</td></tr></table></li><li>Include these codes as defined in <a href=\"http://tx.fhir.org/r4\"><code>http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl</code></a><span title=\"Version is not explicitly stated, and the target Code System has no stated version either\"> version ∅</span><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href=\"http://tx.fhir.org/r4/ValueSet/v3-nciThesaurus#v3-nciThesaurus-C120465\">C120465</a></td><td>Homologous Recombination Repair Deficiency</td></tr></table></li></ul></div>"
] ;
fhir:DomainResource.extension [
fhir:index 0 ;
fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg" ] ;
fhir:Extension.valueCode [ fhir:value "cg" ]
], [
fhir:index 1 ;
fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm" ] ;
fhir:Extension.valueInteger [
fhir:value "2"^^xsd:integer ;
fhir:Element.extension [
fhir:index 0 ;
fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom" ] ;
fhir:Extension.valueCanonical [
fhir:value "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting" ;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting>
]
]
]
], [
fhir:index 2 ;
fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status" ] ;
fhir:Extension.valueCode [
fhir:value "trial-use" ;
fhir:Element.extension [
fhir:index 0 ;
fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom" ] ;
fhir:Extension.valueCanonical [
fhir:value "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting" ;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting>
]
]
]
] ;
fhir:ValueSet.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/molecular-biomarker-code-vs"] ;
fhir:ValueSet.version [ fhir:value "4.0.0-cibuild"] ;
fhir:ValueSet.name [ fhir:value "MolecularBiomarkerCodeVS"] ;
fhir:ValueSet.title [ fhir:value "Molecular Biomarker Codes"] ;
fhir:ValueSet.status [ fhir:value "active"] ;
fhir:ValueSet.experimental [ fhir:value "false"^^xsd:boolean] ;
fhir:ValueSet.date [ fhir:value "2026-09-21T13:24:35+00:00"^^xsd:dateTime] ;
fhir:ValueSet.publisher [ fhir:value "HL7 International / Clinical Genomics"] ;
fhir:ValueSet.contact [
fhir:index 0 ;
fhir:ContactDetail.name [ fhir:value "HL7 International / Clinical Genomics" ] ;
fhir:ContactDetail.telecom [
fhir:index 0 ;
fhir:ContactPoint.system [ fhir:value "url" ] ;
fhir:ContactPoint.value [ fhir:value "http://www.hl7.org/Special/committees/clingenomics" ]
], [
fhir:index 1 ;
fhir:ContactPoint.system [ fhir:value "email" ] ;
fhir:ContactPoint.value [ fhir:value "cg@lists.HL7.org" ]
]
] ;
fhir:ValueSet.description [ fhir:value "Value Set for terms that can be used as Biomarkers."] ;
fhir:ValueSet.jurisdiction [
fhir:index 0 ;
fhir:CodeableConcept.coding [
fhir:index 0 ;
fhir:Coding.system [ fhir:value "http://unstats.un.org/unsd/methods/m49/m49.htm" ] ;
fhir:Coding.code [ fhir:value "001" ] ;
fhir:Coding.display [ fhir:value "World" ]
]
] ;
fhir:ValueSet.copyright [ fhir:value "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.\nThis 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."] ;
fhir:ValueSet.compose [
fhir:ValueSet.compose.include [
fhir:index 0 ;
fhir:ValueSet.compose.include.system [ fhir:value "http://loinc.org" ] ;
fhir:ValueSet.compose.include.concept [
fhir:index 0 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "85337-4" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Estrogen receptor Ag [Presence] in Breast cancer specimen by Immune stain" ]
], [
fhir:index 1 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "72382-5" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "HER2 [Units/volume] in Tissue by Immunoassay" ]
], [
fhir:index 2 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "77637-7" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "HLA-A and B and C (class I) IgG panel [Identifier] - Serum or Plasma by Immunoassay" ]
], [
fhir:index 3 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "40557-1" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Progesterone receptor Ag [Presence] in Tissue by Immune stain" ]
], [
fhir:index 4 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "85147-7" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "PD-L1 by clone 22C3 in Tissue by Immune stain Report" ]
], [
fhir:index 5 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "59025-7" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Neutrophil Ab [Units/volume] in Serum by Flow cytometry (FC)" ]
], [
fhir:index 6 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "59003-4" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Lactoferrin Ab [Units/volume] in Serum by Immunoassay" ]
], [
fhir:index 7 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "10495-0" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Insulin Ag [Presence] in Tissue by Immune stain" ]
], [
fhir:index 8 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "16550-6" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Carbohydrates [Identifier] in Urine" ]
], [
fhir:index 9 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "2569-2" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Lipids [Mass/volume] in Serum" ]
], [
fhir:index 10 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "4551-8" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Hemoglobin A2/Hemoglobin.total in Blood" ]
], [
fhir:index 11 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "19195-7" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Prostate specific Ag [Units/volume] in Serum or Plasma" ]
], [
fhir:index 12 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "64083-9" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "MGMT gene methylation score in Tissue by Molecular genetics method" ]
], [
fhir:index 13 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "62862-8" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Microsatellite instability [Presence] in Tissue by Immune stain" ]
], [
fhir:index 14 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "81704-9" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Microsatellite instability marker D17S250 in Cancer specimen Qualitative" ]
], [
fhir:index 15 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "94077-5" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Tumor mutation burden [Interpretation]" ]
]
], [
fhir:index 1 ;
fhir:ValueSet.compose.include.system [ fhir:value "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl" ] ;
fhir:ValueSet.compose.include.concept [
fhir:index 0 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "C120465" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Homologous Recombination Repair Deficiency" ]
]
]
] .
# - ontology header ------------------------------------------------------------
<http://hl7.org/fhir/ValueSet/molecular-biomarker-code-vs.ttl> a owl:Ontology ;
owl:imports fhir:fhir.ttl ;
owl:versionIRI <http://build.fhir.org/ValueSet/molecular-biomarker-code-vs.ttl> .
IG © 2025+ HL7 International / Clinical Genomics. Package hl7.fhir.uv.genomics-reporting#4.0.0-cibuild based on FHIR 4.0.1. Generated 2026-09-21
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