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/genetic-therapeutic-implications-vs> a fhir:ValueSet ;
fhir:nodeRole fhir:treeRoot ;
fhir:Resource.id [ fhir:value "genetic-therapeutic-implications-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 genetic-therapeutic-implications-vs</b></p><a name=\"genetic-therapeutic-implications-vs\"> </a><a name=\"hcgenetic-therapeutic-implications-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/LA10315-2/\">LA10315-2</a></td><td>Ultrarapid metabolizer</td></tr><tr><td><a href=\"https://loinc.org/LA25391-6/\">LA25391-6</a></td><td>Normal metabolizer</td></tr><tr><td><a href=\"https://loinc.org/LA25390-8/\">LA25390-8</a></td><td>Rapid metabolizer</td></tr><tr><td><a href=\"https://loinc.org/LA10317-8/\">LA10317-8</a></td><td>Intermediate metabolizer</td></tr><tr><td><a href=\"https://loinc.org/LA9657-3/\">LA9657-3</a></td><td>Poor metabolizer</td></tr><tr><td><a href=\"https://loinc.org/LA19542-2/\">LA19542-2</a></td><td>Low Risk</td></tr><tr><td><a href=\"https://loinc.org/LA19541-4/\">LA19541-4</a></td><td>High Risk</td></tr><tr><td><a href=\"https://loinc.org/LA6676-6/\">LA6676-6</a></td><td>Resistant</td></tr><tr><td><a href=\"https://loinc.org/LA6677-4/\">LA6677-4</a></td><td>Responsive</td></tr><tr><td><a href=\"https://loinc.org/LA9660-7/\">LA9660-7</a></td><td>Presumed resistant</td></tr><tr><td><a href=\"https://loinc.org/LA9661-5/\">LA9661-5</a></td><td>Presumed responsive</td></tr><tr><td><a href=\"https://loinc.org/LA6682-4/\">LA6682-4</a></td><td>Unknown Significance</td></tr><tr><td><a href=\"https://loinc.org/LA6675-8/\">LA6675-8</a></td><td>Benign</td></tr><tr><td><a href=\"https://loinc.org/LA6674-1/\">LA6674-1</a></td><td>Presumed Benign</td></tr><tr><td><a href=\"https://loinc.org/LA9662-3/\">LA9662-3</a></td><td>Presumed non-responsive</td></tr><tr><td><a href=\"https://loinc.org/LA25392-4/\">LA25392-4</a></td><td>Increased function</td></tr><tr><td><a href=\"https://loinc.org/LA25393-2/\">LA25393-2</a></td><td>Normal function</td></tr><tr><td><a href=\"https://loinc.org/LA25395-7/\">LA25395-7</a></td><td>Decreased function</td></tr><tr><td><a href=\"https://loinc.org/LA25394-0/\">LA25394-0</a></td><td>Poor function</td></tr></table></li><li>Include these codes as defined in <a href=\"http://www.snomed.org/\"><code>http://snomed.info/sct</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=\"http://snomed.info/id/444734003\">444734003</a></td><td>Does not meet eligibility criteria for clinical trial (finding)</td></tr><tr><td><a href=\"http://snomed.info/id/399223003\">399223003</a></td><td>Patient eligible for clinical trial (finding)</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/genetic-therapeutic-implications-vs"] ;
fhir:ValueSet.version [ fhir:value "4.0.0-cibuild"] ;
fhir:ValueSet.name [ fhir:value "GeneticTherapeuticImplicationsVS"] ;
fhir:ValueSet.title [ fhir:value "Genetic Therapeutic Implications"] ;
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 describe a predicted ramification based on the presence of associated molecular finding(s)."] ;
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 "LA10315-2" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Ultrarapid metabolizer" ]
], [
fhir:index 1 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "LA25391-6" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Normal metabolizer" ]
], [
fhir:index 2 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "LA25390-8" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Rapid metabolizer" ]
], [
fhir:index 3 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "LA10317-8" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Intermediate metabolizer" ]
], [
fhir:index 4 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "LA9657-3" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Poor metabolizer" ]
], [
fhir:index 5 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "LA19542-2" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Low Risk" ]
], [
fhir:index 6 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "LA19541-4" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "High Risk" ]
], [
fhir:index 7 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "LA6676-6" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Resistant" ]
], [
fhir:index 8 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "LA6677-4" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Responsive" ]
], [
fhir:index 9 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "LA9660-7" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Presumed resistant" ]
], [
fhir:index 10 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "LA9661-5" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Presumed responsive" ]
], [
fhir:index 11 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "LA6682-4" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Unknown Significance" ]
], [
fhir:index 12 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "LA6675-8" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Benign" ]
], [
fhir:index 13 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "LA6674-1" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Presumed Benign" ]
], [
fhir:index 14 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "LA9662-3" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Presumed non-responsive" ]
], [
fhir:index 15 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "LA25392-4" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Increased function" ]
], [
fhir:index 16 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "LA25393-2" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Normal function" ]
], [
fhir:index 17 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "LA25395-7" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Decreased function" ]
], [
fhir:index 18 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "LA25394-0" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Poor function" ]
]
], [
fhir:index 1 ;
fhir:ValueSet.compose.include.system [ fhir:value "http://snomed.info/sct" ] ;
fhir:ValueSet.compose.include.concept [
fhir:index 0 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "444734003" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Does not meet eligibility criteria for clinical trial (finding)" ]
], [
fhir:index 1 ;
fhir:ValueSet.compose.include.concept.code [ fhir:value "399223003" ] ;
fhir:ValueSet.compose.include.concept.display [ fhir:value "Patient eligible for clinical trial (finding)" ]
]
]
] .
# - ontology header ------------------------------------------------------------
<http://hl7.org/fhir/ValueSet/genetic-therapeutic-implications-vs.ttl> a owl:Ontology ;
owl:imports fhir:fhir.ttl ;
owl:versionIRI <http://build.fhir.org/ValueSet/genetic-therapeutic-implications-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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