Genomics Reporting Implementation Guide
1.1.0 - Ballot
Genomics Reporting Implementation Guide
1.1.0 - Ballot
This page is part of the Genetic Reporting Implementation Guide (v1.1.0: STU 2 Ballot 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions 
@prefix fhir: <http://hl7.org/fhir/> .
@prefix loinc: <http://loinc.org/rdf#> .
@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:Observation;
fhir:nodeRole fhir:treeRoot;
fhir:Resource.id [ fhir:value "TxImp06"];
fhir:Resource.meta [
fhir:Meta.profile [
fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication";
fhir:index 0;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication> ]
];
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p></p><p><b>category</b>: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes therapeutic-implication}\">Therapeutic Implication</span></p><p><b>derivedFrom</b>: </p><ul><li><a href=\"Observation-Pgx-geno-1002.html\">CYP2C9*1/*1. Generated Summary: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>; <span title=\"Codes: {http://loinc.org 84413-4}\">Genotype display name</span>; effective: 2020-01-01; <span title=\"Codes: \">CYP2C9*1/*1</span></a></li><li><a href=\"Observation-Pgx-geno-1003.html\">VKORC1 rs9923231 C/T. Generated Summary: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>; <span title=\"Codes: {http://loinc.org 84413-4}\">Genotype display name</span>; effective: 2020-01-01; <span title=\"Codes: \">VKORC1 rs9923231 C/T</span></a></li></ul><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 51963-7}\">Medication assessed [ID]</span></p><p><b>value</b>: <span title=\"Codes: {http://ncimeta.nci.nih.gov C0043031}\">warfarin</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 53040-2}\">Genetic variation's effect on drug metabolism</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA25391-6}\">Normal metabolizer</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes conclusion-string}\">Conclusion text</span></p><p><b>value</b>: This individual is homozygous for the normal allele for the CYP2C9 gene. Based on the genotype result, this patient is predicted to have normal CYP2C9 function. This individual is also heterozygous for the variant allele for the VKORC1 gene. Expression level of the VKORC1 gene is associated with warfarin sensitivity. Based on the genotype result, this patient is predicted to have medium sensitivity to warfarin. See https://cpicpgx.org/guidelines/guideline-for-warfarin-and-cyp2c9-and-vkorc1/ guidelines for detail.</p></blockquote></div>"
];
fhir:Observation.status [ fhir:value "final"];
fhir:Observation.category [
fhir:index 0;
fhir:CodeableConcept.coding [
fhir:index 0;
fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/observation-category" ];
fhir:Coding.code [ fhir:value "laboratory" ] ]
];
fhir:Observation.code [
fhir:CodeableConcept.coding [
fhir:index 0;
fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes" ];
fhir:Coding.code [ fhir:value "therapeutic-implication" ] ]
];
fhir:Observation.derivedFrom [
fhir:index 0;
fhir:Reference.reference [ fhir:value "Observation/Pgx-geno-1002" ];
fhir:Reference.display [ fhir:value "CYP2C9*1/*1" ]
], [
fhir:index 1;
fhir:Reference.reference [ fhir:value "Observation/Pgx-geno-1003" ];
fhir:Reference.display [ fhir:value "VKORC1 rs9923231 C/T" ]
];
fhir:Observation.component [
fhir:index 0;
fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0;
a loinc:51963-7;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "51963-7" ] ] ];
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0;
fhir:Coding.system [ fhir:value "http://ncimeta.nci.nih.gov" ];
fhir:Coding.code [ fhir:value "C0043031" ];
fhir:Coding.display [ fhir:value "warfarin" ] ] ]
], [
fhir:index 1;
fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0;
a loinc:53040-2;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "53040-2" ] ] ];
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0;
a loinc:LA25391-6;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "LA25391-6" ];
fhir:Coding.display [ fhir:value "Normal metabolizer" ] ] ]
], [
fhir:index 2;
fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0;
fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes" ];
fhir:Coding.code [ fhir:value "conclusion-string" ] ] ];
fhir:Observation.component.valueString [ fhir:value "This individual is homozygous for the normal allele for the CYP2C9 gene. Based on the genotype result, this patient is predicted to have normal CYP2C9 function. This individual is also heterozygous for the variant allele for the VKORC1 gene. Expression level of the VKORC1 gene is associated with warfarin sensitivity. Based on the genotype result, this patient is predicted to have medium sensitivity to warfarin. See https://cpicpgx.org/guidelines/guideline-for-warfarin-and-cyp2c9-and-vkorc1/ guidelines for detail." ]
].
# - ontology header ------------------------------------------------------------
a owl:Ontology;
owl:imports fhir:fhir.ttl.
IG © 2019+ HL7 International Clinical Genomics Work Group. Package hl7.fhir.uv.genomics-reporting#1.1.0 based on FHIR 4.0.1. Generated 2021-04-13
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