Genomics Reporting Implementation Guide
2.0.0 - trial-use
Genomics Reporting Implementation Guide
2.0.0 - trial-use
This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions 
@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 -------------------------------------------------------------------
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>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><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href=\"http://details.loinc.org/LOINC/LA10315-2.html\">LA10315-2</a></td><td>Ultrarapid metabolizer</td></tr><tr><td><a href=\"http://details.loinc.org/LOINC/LA25391-6.html\">LA25391-6</a></td><td>Normal metabolizer</td></tr><tr><td><a href=\"http://details.loinc.org/LOINC/LA25390-8.html\">LA25390-8</a></td><td>Rapid metabolizer</td></tr><tr><td><a href=\"http://details.loinc.org/LOINC/LA10317-8.html\">LA10317-8</a></td><td>Intermediate metabolizer</td></tr><tr><td><a href=\"http://details.loinc.org/LOINC/LA9657-3.html\">LA9657-3</a></td><td>Poor metabolizer</td></tr><tr><td><a href=\"http://details.loinc.org/LOINC/LA19542-2.html\">LA19542-2</a></td><td>Low Risk</td></tr><tr><td><a href=\"http://details.loinc.org/LOINC/LA19541-4.html\">LA19541-4</a></td><td>High Risk</td></tr><tr><td><a href=\"http://details.loinc.org/LOINC/LA6676-6.html\">LA6676-6</a></td><td>Resistant</td></tr><tr><td><a href=\"http://details.loinc.org/LOINC/LA6677-4.html\">LA6677-4</a></td><td>Responsive</td></tr><tr><td><a href=\"http://details.loinc.org/LOINC/LA9660-7.html\">LA9660-7</a></td><td>Presumed resistant</td></tr><tr><td><a href=\"http://details.loinc.org/LOINC/LA9661-5.html\">LA9661-5</a></td><td>Presumed responsive</td></tr><tr><td><a href=\"http://details.loinc.org/LOINC/LA6682-4.html\">LA6682-4</a></td><td>Unknown Significance</td></tr><tr><td><a href=\"http://details.loinc.org/LOINC/LA6675-8.html\">LA6675-8</a></td><td>Benign</td></tr><tr><td><a href=\"http://details.loinc.org/LOINC/LA6674-1.html\">LA6674-1</a></td><td>Presumed Benign</td></tr><tr><td><a href=\"http://details.loinc.org/LOINC/LA9662-3.html\">LA9662-3</a></td><td>Presumed non-responsive</td></tr><tr><td><a href=\"http://details.loinc.org/LOINC/LA25392-4.html\">LA25392-4</a></td><td>Increased function</td></tr><tr><td><a href=\"http://details.loinc.org/LOINC/LA25393-2.html\">LA25393-2</a></td><td>Normal function</td></tr><tr><td><a href=\"http://details.loinc.org/LOINC/LA25395-7.html\">LA25395-7</a></td><td>Decreased function</td></tr><tr><td><a href=\"http://details.loinc.org/LOINC/LA25394-0.html\">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><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:ValueSet.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/genetic-therapeutic-implications-vs"];
fhir:ValueSet.version [ fhir:value "2.0.0"];
fhir:ValueSet.name [ fhir:value "GeneticTherapeuticImplicationsVS"];
fhir:ValueSet.title [ fhir:value "Genetic Therapeutic Implications"];
fhir:ValueSet.status [ fhir:value "active"];
fhir:ValueSet.date [ fhir:value "2022-05-09T16:59:16+00:00"^^xsd:dateTime];
fhir:ValueSet.publisher [ fhir:value "HL7 Clinical Genomics Working Group"];
fhir:ValueSet.contact [
fhir:index 0;
fhir:ContactDetail.name [ fhir:value "HL7 Clinical Genomics Working Group" ];
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 ------------------------------------------------------------
a owl:Ontology;
owl:imports fhir:fhir.ttl.
IG © 2022+ HL7 Clinical Genomics Working Group. Package hl7.fhir.uv.genomics-reporting#2.0.0 based on FHIR 4.0.1. Generated 2022-05-09
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