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
@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 sct: <http://snomed.info/id/> . @prefix xsd: <http://www.w3.org/2001/XMLSchema#> . # - resource ------------------------------------------------------------------- <http://hl7.org/fhir/Bundle/bundle-cgexample> a fhir:Bundle ; fhir:nodeRole fhir:treeRoot ; fhir:Resource.id [ fhir:value "bundle-cgexample"] ; fhir:Bundle.type [ fhir:value "collection"] ; fhir:Bundle.entry [ fhir:index 0 ; fhir:Bundle.entry.fullUrl [ fhir:value "http://example.org/fhir/DiagnosticReport/report" ] ; fhir:Bundle.entry.resource <http://example.org/fhir/DiagnosticReport/report> ], [ fhir:index 1 ; fhir:Bundle.entry.fullUrl [ fhir:value "http://example.org/fhir/Patient/ExamplePatient" ] ; fhir:Bundle.entry.resource <http://example.org/fhir/Patient/ExamplePatient> ], [ fhir:index 2 ; fhir:Bundle.entry.fullUrl [ fhir:value "http://example.org/fhir/Specimen/ExampleSpecimen" ] ; fhir:Bundle.entry.resource <http://example.org/fhir/Specimen/ExampleSpecimen> ], [ fhir:index 3 ; fhir:Bundle.entry.fullUrl [ fhir:value "http://example.org/fhir/Organization/ExampleLab" ] ; fhir:Bundle.entry.resource <http://example.org/fhir/Organization/ExampleLab> ], [ fhir:index 4 ; fhir:Bundle.entry.fullUrl [ fhir:value "http://example.org/fhir/ServiceRequest/ExampleServiceRequest" ] ; fhir:Bundle.entry.resource <http://example.org/fhir/ServiceRequest/ExampleServiceRequest> ], [ fhir:index 5 ; fhir:Bundle.entry.fullUrl [ fhir:value "http://example.org/fhir/Observation/discrete-variant" ] ; fhir:Bundle.entry.resource <http://example.org/fhir/Observation/discrete-variant> ], [ fhir:index 6 ; fhir:Bundle.entry.fullUrl [ fhir:value "http://example.org/fhir/Observation/dis-path" ] ; fhir:Bundle.entry.resource <http://example.org/fhir/Observation/dis-path> ], [ fhir:index 7 ; fhir:Bundle.entry.fullUrl [ fhir:value "http://example.org/fhir/Observation/complex-variant" ] ; fhir:Bundle.entry.resource <http://example.org/fhir/Observation/complex-variant> ], [ fhir:index 8 ; fhir:Bundle.entry.fullUrl [ fhir:value "http://example.org/fhir/Observation/complex-dis-path" ] ; fhir:Bundle.entry.resource <http://example.org/fhir/Observation/complex-dis-path> ], [ fhir:index 9 ; fhir:Bundle.entry.fullUrl [ fhir:value "http://example.org/fhir/Observation/complex-component-D" ] ; fhir:Bundle.entry.resource <http://example.org/fhir/Observation/complex-component-D> ], [ fhir:index 10 ; fhir:Bundle.entry.fullUrl [ fhir:value "http://example.org/fhir/Observation/complex-component-E" ] ; fhir:Bundle.entry.resource <http://example.org/fhir/Observation/complex-component-E> ], [ fhir:index 11 ; fhir:Bundle.entry.fullUrl [ fhir:value "http://example.org/fhir/Observation/haplotype" ] ; fhir:Bundle.entry.resource <http://example.org/fhir/Observation/haplotype> ], [ fhir:index 12 ; fhir:Bundle.entry.fullUrl [ fhir:value "http://example.org/fhir/Observation/genotype" ] ; fhir:Bundle.entry.resource <http://example.org/fhir/Observation/genotype> ], [ fhir:index 13 ; fhir:Bundle.entry.fullUrl [ fhir:value "http://example.org/fhir/Observation/metab" ] ; fhir:Bundle.entry.resource <http://example.org/fhir/Observation/metab> ], [ fhir:index 14 ; fhir:Bundle.entry.fullUrl [ fhir:value "http://example.org/fhir/Observation/efficacy" ] ; fhir:Bundle.entry.resource <http://example.org/fhir/Observation/efficacy> ], [ fhir:index 15 ; fhir:Bundle.entry.fullUrl [ fhir:value "http://example.org/fhir/Observation/highrisk" ] ; fhir:Bundle.entry.resource <http://example.org/fhir/Observation/highrisk> ], [ fhir:index 16 ; fhir:Bundle.entry.fullUrl [ fhir:value "http://example.org/fhir/Task/usage" ] ; fhir:Bundle.entry.resource <http://example.org/fhir/Task/usage> ] . <http://example.org/fhir/DiagnosticReport/report> a fhir:DiagnosticReport ; fhir:Resource.id [ fhir:value "report"] ; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report" ; fhir:index 0 ; fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report> ] ] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"DiagnosticReport_report\"> </a><p class=\"res-header-id\"><b>Generated Narrative: DiagnosticReport report</b></p><a name=\"report\"> </a><a name=\"hcreport\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-genomic-report.html\">Genomic Report</a></p></div><h2><span title=\"Codes:{http://loinc.org 51969-4}\">Genetic analysis report</span> (<span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span>) </h2><table class=\"grid\"><tr><td>Subject</td><td>Anonymous Patient (no stated gender), DoB Unknown</td></tr><tr><td>Relevant Time</td><td>2016</td></tr><tr><td>Reported</td><td>2016-09-06 00:00:00-0500</td></tr><tr><td>Performer</td><td> <a href=\"Organization-ExampleLab.html\">Organization Some lab</a></td></tr><tr><td>Presented Form</td><td> text/plain: UHV0IHRoZSByZXBvcnQgdGV4dCBoZXJl...</td></tr></table><p><b>Report Details</b></p><table class=\"grid\"><tr><td><b>Code</b></td><td><b>Value</b></td><td><b>Flags</b></td></tr><tr><td><a href=\"Bundle-bundle-cgexample.html#Observation_discrete-variant\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></td><td>Final</td></tr><tr><td><a href=\"Bundle-bundle-cgexample.html#Observation_dis-path\"><span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</span></a></td><td/><td>Final</td></tr><tr><td><a href=\"Bundle-bundle-cgexample.html#Observation_complex-variant\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></td><td>Final</td></tr><tr><td><a href=\"Bundle-bundle-cgexample.html#Observation_complex-dis-path\"><span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</span></a></td><td/><td>Final</td></tr><tr><td><a href=\"Bundle-bundle-cgexample.html#Observation_haplotype\"><span title=\"Codes:{http://loinc.org 84414-2}\">Haplotype name</span></a></td><td><span title=\"Codes:{http://www.ebi.ac.uk/ipd/imgt/hla *2}\">*2</span></td><td>Final</td></tr><tr><td><a href=\"Bundle-bundle-cgexample.html#Observation_genotype\"><span title=\"Codes:{http://loinc.org 84413-4}\">Genotype display name</span></a></td><td><span title=\"Codes:{http://www.pharmvar.org CYP2C9 *2/*5}\">CYP2C9 *2/*5</span></td><td>Final</td></tr><tr><td><a href=\"Bundle-bundle-cgexample.html#Observation_metab\"><span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}\">Therapeutic Implication</span></a></td><td/><td>Final</td></tr><tr><td><a href=\"Bundle-bundle-cgexample.html#Observation_efficacy\"><span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}\">Therapeutic Implication</span></a></td><td/><td>Final</td></tr></table><p><b>Coded Conclusions:</b></p><ul><li><span title=\"Codes:{http://loinc.org LA6576-8}\">Positive</span></li><li><span title=\"Codes:{http://snomed.info/sct 10828004}\">Positive</span></li></ul></div>" ] ; fhir:DiagnosticReport.basedOn [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/ServiceRequest/ExampleServiceRequest> ; fhir:Reference.reference [ fhir:value "ServiceRequest/ExampleServiceRequest" ] ] ; fhir:DiagnosticReport.status [ fhir:value "final"] ; fhir:DiagnosticReport.category [ fhir:index 0 ; fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0074" ] ; fhir:Coding.code [ fhir:value "GE" ] ] ] ; fhir:DiagnosticReport.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:51969-4 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "51969-4" ] ] ] ; fhir:DiagnosticReport.subject [ fhir:link <http://hl7.org/fhir/Patient/ExamplePatient> ; fhir:Reference.reference [ fhir:value "Patient/ExamplePatient" ] ] ; fhir:DiagnosticReport.effectiveDateTime [ fhir:value "2016"^^xsd:gYear] ; fhir:DiagnosticReport.issued [ fhir:value "2016-09-06T00:00:00-05:00"^^xsd:dateTime] ; fhir:DiagnosticReport.performer [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/Organization/ExampleLab> ; fhir:Reference.reference [ fhir:value "Organization/ExampleLab" ] ] ; fhir:DiagnosticReport.result [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/Observation/discrete-variant> ; fhir:Reference.reference [ fhir:value "Observation/discrete-variant" ] ], [ fhir:index 1 ; fhir:link <http://hl7.org/fhir/Observation/dis-path> ; fhir:Reference.reference [ fhir:value "Observation/dis-path" ] ], [ fhir:index 2 ; fhir:link <http://hl7.org/fhir/Observation/complex-variant> ; fhir:Reference.reference [ fhir:value "Observation/complex-variant" ] ], [ fhir:index 3 ; fhir:link <http://hl7.org/fhir/Observation/complex-dis-path> ; fhir:Reference.reference [ fhir:value "Observation/complex-dis-path" ] ], [ fhir:index 4 ; fhir:link <http://hl7.org/fhir/Observation/haplotype> ; fhir:Reference.reference [ fhir:value "Observation/haplotype" ] ], [ fhir:index 5 ; fhir:link <http://hl7.org/fhir/Observation/genotype> ; fhir:Reference.reference [ fhir:value "Observation/genotype" ] ], [ fhir:index 6 ; fhir:link <http://hl7.org/fhir/Observation/metab> ; fhir:Reference.reference [ fhir:value "Observation/metab" ] ], [ fhir:index 7 ; fhir:link <http://hl7.org/fhir/Observation/efficacy> ; fhir:Reference.reference [ fhir:value "Observation/efficacy" ] ] ; fhir:DiagnosticReport.conclusionCode [ fhir:index 0 ; fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:LA6576-8 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "LA6576-8" ] ; fhir:Coding.display [ fhir:value "Positive" ] ] ], [ fhir:index 1 ; fhir:CodeableConcept.coding [ fhir:index 0 ; a sct:10828004 ; fhir:Coding.system [ fhir:value "http://snomed.info/sct" ] ; fhir:Coding.code [ fhir:value "10828004" ] ; fhir:Coding.display [ fhir:value "Positive" ] ] ] ; fhir:DiagnosticReport.presentedForm [ fhir:index 0 ; fhir:Attachment.contentType [ fhir:value "text/plain" ] ; fhir:Attachment.data [ fhir:value "UHV0IHRoZSByZXBvcnQgdGV4dCBoZXJlIC0gbWltZS1lbmNvZGVk"^^xsd:base64Binary ] ] . <http://hl7.org/fhir/ServiceRequest/ExampleServiceRequest> a fhir:ServiceRequest . <http://hl7.org/fhir/Patient/ExamplePatient> a fhir:Patient . <http://hl7.org/fhir/Organization/ExampleLab> a fhir:Organization . <http://hl7.org/fhir/Observation/discrete-variant> a fhir:Observation . <http://hl7.org/fhir/Observation/dis-path> a fhir:Observation . <http://hl7.org/fhir/Observation/complex-variant> a fhir:Observation . <http://hl7.org/fhir/Observation/complex-dis-path> a fhir:Observation . <http://hl7.org/fhir/Observation/haplotype> a fhir:Observation . <http://hl7.org/fhir/Observation/genotype> a fhir:Observation . <http://hl7.org/fhir/Observation/metab> a fhir:Observation . <http://hl7.org/fhir/Observation/efficacy> a fhir:Observation . <http://example.org/fhir/Patient/ExamplePatient> a fhir:Patient ; fhir:Resource.id [ fhir:value "ExamplePatient"] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "additional" ] ; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Patient_ExamplePatient\"> </a>This would contain patient identifiers, demographics, etc.</div>" ] . <http://example.org/fhir/Specimen/ExampleSpecimen> a fhir:Specimen ; fhir:Resource.id [ fhir:value "ExampleSpecimen"] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Specimen_ExampleSpecimen\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Specimen ExampleSpecimen</b></p><a name=\"ExampleSpecimen\"> </a><a name=\"hcExampleSpecimen\"> </a><p><b>subject</b>: <a href=\"Patient-ExamplePatient.html\">Anonymous Patient (no stated gender), DoB Unknown</a></p></div>" ] ; fhir:Specimen.subject [ fhir:link <http://hl7.org/fhir/Patient/ExamplePatient> ; fhir:Reference.reference [ fhir:value "Patient/ExamplePatient" ] ] . <http://example.org/fhir/Organization/ExampleLab> a fhir:Organization ; fhir:Resource.id [ fhir:value "ExampleLab"] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Organization_ExampleLab\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Organization ExampleLab</b></p><a name=\"ExampleLab\"> </a><a name=\"hcExampleLab\"> </a><p><b>name</b>: Some lab</p></div>" ] ; fhir:Organization.name [ fhir:value "Some lab"] . <http://example.org/fhir/ServiceRequest/ExampleServiceRequest> a fhir:ServiceRequest ; fhir:Resource.id [ fhir:value "ExampleServiceRequest"] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"ServiceRequest_ExampleServiceRequest\"> </a><p class=\"res-header-id\"><b>Generated Narrative: ServiceRequest ExampleServiceRequest</b></p><a name=\"ExampleServiceRequest\"> </a><a name=\"hcExampleServiceRequest\"> </a><p><b>status</b>: Active</p><p><b>intent</b>: Original Order</p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51969-4}\">Genetic analysis report</span></p><p><b>subject</b>: <a href=\"Patient-ExamplePatient.html\">Anonymous Patient (no stated gender), DoB Unknown</a></p><p><b>reasonCode</b>: <span title=\"Codes:\">Worried about family planning</span></p></div>" ] ; fhir:ServiceRequest.status [ fhir:value "active"] ; fhir:ServiceRequest.intent [ fhir:value "original-order"] ; fhir:ServiceRequest.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:51969-4 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "51969-4" ] ; fhir:Coding.display [ fhir:value "Genetic analysis report" ] ] ] ; fhir:ServiceRequest.subject [ fhir:link <http://hl7.org/fhir/Patient/ExamplePatient> ; fhir:Reference.reference [ fhir:value "Patient/ExamplePatient" ] ] ; fhir:ServiceRequest.reasonCode [ fhir:index 0 ; fhir:CodeableConcept.text [ fhir:value "Worried about family planning" ] ] . <http://example.org/fhir/Observation/discrete-variant> a fhir:Observation ; fhir:Resource.id [ fhir:value "discrete-variant"] ; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" ; fhir:index 0 ; fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant> ] ] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_discrete-variant\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation discrete-variant</b></p><a name=\"discrete-variant\"> </a><a name=\"hcdiscrete-variant\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-variant.html\">Variant</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"Patient-ExamplePatient.html\">Anonymous Patient (no stated gender), DoB Unknown</a></p><p><b>effective</b>: 2016</p><p><b>issued</b>: 2016-09-06 00:00:00-0500</p><p><b>performer</b>: <a href=\"Organization-ExampleLab.html\">Organization Some lab</a></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><p><b>specimen</b>: <a href=\"Specimen-ExampleSpecimen.html\">Specimen</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81252-9}\">Discrete genetic variant</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/clinvar 30880}\">NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org HGNC:21497}\">ACAD9</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NM_014049.4}\">NM_014049.4</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48013-7}\">Genomic reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NG_017064.1}\">NG_017064.1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81290-9}\">Genomic DNA change (gHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NC_000003.11:g.128625063C>T}\">NC_000003.11:g.128625063C>T</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81252-9}\">Discrete genetic variant</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/projects/SNP rs368949613}\">rs368949613</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NM_014049.4:c.1249C>T}\">NM_014049.4:c.1249C>T</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NP_054768.2:p.Arg417Cys}\">NP_054768.2:p.Arg417Cys</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6690-7}\">Substitution</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69547-8}\">Genomic ref allele [ID]</span></p><p><b>value</b>: C</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81254-5}\">Genomic allele start-end</span></p><p><b>value</b>: 31731-31731</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69551-0}\">Genomic alt allele [ID]</span></p><p><b>value</b>: T</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48001-2}\">Cytogenetic (chromosome) location</span></p><p><b>value</b>: <span title=\"Codes:\">3q21</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48002-0}\">Genomic source class [Type]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6683-2}\">Germline</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53034-5}\">Allelic state</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6706-1}\">Heterozygous</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81258-6}\">Sample variant allelic frequency [NFr]</span></p><p><b>value</b>: 47 %<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM code% = '%')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 82121-5}\">Allelic read depth</span></p><p><b>value</b>: 208 1<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM code1 = '1')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 82155-3}\">Genomic structural variant copy number</span></p><p><b>value</b>: 1 1<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM code1 = '1')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81299-0}\">Structural variant reported arrCGH [Ratio]</span></p><p><b>value</b>: 0.48</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81300-6}\">Structural variant [Length]</span></p><p><b>value</b>: 1396929 1<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM code1 = '1')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81301-4}\">Structural variant outer start and end</span></p><p><b>value</b>: 13200589-15592000</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81302-2}\">Structural variant inner start and end</span></p><p><b>value</b>: 14184616-15581544</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:index 1 ; fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0074" ] ; fhir:Coding.code [ fhir:value "GE" ] ] ] ; fhir:Observation.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:69548-6 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "69548-6" ] ; fhir:Coding.display [ fhir:value "Genetic variant assessment" ] ] ] ; fhir:Observation.subject [ fhir:link <http://hl7.org/fhir/Patient/ExamplePatient> ; fhir:Reference.reference [ fhir:value "Patient/ExamplePatient" ] ] ; fhir:Observation.effectiveDateTime [ fhir:value "2016"^^xsd:gYear] ; fhir:Observation.issued [ fhir:value "2016-09-06T00:00:00-05:00"^^xsd:dateTime] ; fhir:Observation.performer [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/Organization/ExampleLab> ; fhir:Reference.reference [ fhir:value "Organization/ExampleLab" ] ] ; fhir:Observation.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:LA9633-4 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "LA9633-4" ] ; fhir:Coding.display [ fhir:value "Present" ] ] ] ; fhir:Observation.specimen [ fhir:link <http://hl7.org/fhir/Specimen/ExampleSpecimen> ; fhir:Reference.reference [ fhir:value "Specimen/ExampleSpecimen" ] ] ; fhir:Observation.component [ fhir:index 0 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:81252-9 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "81252-9" ] ; fhir:Coding.display [ fhir:value "Discrete genetic variant" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/clinvar" ] ; fhir:Coding.code [ fhir:value "30880" ] ; fhir:Coding.display [ fhir:value "NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys)" ] ] ] ], [ fhir:index 1 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:48018-6 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "48018-6" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://www.genenames.org" ] ; fhir:Coding.code [ fhir:value "HGNC:21497" ] ; fhir:Coding.display [ fhir:value "ACAD9" ] ] ] ], [ fhir:index 2 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:51958-7 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "51958-7" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/refseq" ] ; fhir:Coding.code [ fhir:value "NM_014049.4" ] ] ] ], [ fhir:index 3 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:48013-7 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "48013-7" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/refseq" ] ; fhir:Coding.code [ fhir:value "NG_017064.1" ] ] ] ], [ fhir:index 4 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:81290-9 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "81290-9" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ] ; fhir:Coding.code [ fhir:value "NC_000003.11:g.128625063C>T" ] ] ] ], [ fhir:index 5 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:81252-9 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "81252-9" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/projects/SNP" ] ; fhir:Coding.version [ fhir:value "137" ] ; fhir:Coding.code [ fhir:value "rs368949613" ] ] ] ], [ fhir:index 6 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:48004-6 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "48004-6" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ] ; fhir:Coding.code [ fhir:value "NM_014049.4:c.1249C>T" ] ] ] ], [ fhir:index 7 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:48005-3 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "48005-3" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ] ; fhir:Coding.code [ fhir:value "NP_054768.2:p.Arg417Cys" ] ] ] ], [ fhir:index 8 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:48019-4 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "48019-4" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:LA6690-7 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "LA6690-7" ] ; fhir:Coding.display [ fhir:value "Substitution" ] ] ] ], [ fhir:index 9 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:69547-8 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "69547-8" ] ] ] ; fhir:Observation.component.valueString [ fhir:value "C" ] ], [ fhir:index 10 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:81254-5 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "81254-5" ] ] ] ; fhir:Observation.component.valueRange [ fhir:Range.low [ fhir:Quantity.value [ fhir:value "31731"^^xsd:decimal ] ] ; fhir:Range.high [ fhir:Quantity.value [ fhir:value "31731"^^xsd:decimal ] ] ] ], [ fhir:index 11 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:69551-0 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "69551-0" ] ] ] ; fhir:Observation.component.valueString [ fhir:value "T" ] ], [ fhir:index 12 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:48001-2 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "48001-2" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.text [ fhir:value "3q21" ] ] ], [ fhir:index 13 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:48002-0 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "48002-0" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:LA6683-2 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "LA6683-2" ] ; fhir:Coding.display [ fhir:value "Germline" ] ] ] ], [ fhir:index 14 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:53034-5 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "53034-5" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:LA6706-1 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "LA6706-1" ] ; fhir:Coding.display [ fhir:value "Heterozygous" ] ] ] ], [ fhir:index 15 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:81258-6 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "81258-6" ] ] ] ; fhir:Observation.component.valueQuantity [ fhir:Quantity.value [ fhir:value "47"^^xsd:decimal ] ; fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ] ; fhir:Quantity.code [ fhir:value "%" ] ] ], [ fhir:index 16 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:82121-5 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "82121-5" ] ] ] ; fhir:Observation.component.valueQuantity [ fhir:Quantity.value [ fhir:value "208"^^xsd:decimal ] ; fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ] ; fhir:Quantity.code [ fhir:value "1" ] ] ], [ fhir:index 17 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:82155-3 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "82155-3" ] ] ] ; fhir:Observation.component.valueQuantity [ fhir:Quantity.value [ fhir:value "1"^^xsd:decimal ] ; fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ] ; fhir:Quantity.code [ fhir:value "1" ] ] ], [ fhir:index 18 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:81299-0 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "81299-0" ] ] ] ; fhir:Observation.component.valueQuantity [ fhir:Quantity.value [ fhir:value "0.48"^^xsd:decimal ] ] ], [ fhir:index 19 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:81300-6 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "81300-6" ] ] ] ; fhir:Observation.component.valueQuantity [ fhir:Quantity.value [ fhir:value "1396929"^^xsd:decimal ] ; fhir:Quantity.system [ fhir:value "http://unitsofmeasure.org" ] ; fhir:Quantity.code [ fhir:value "1" ] ] ], [ fhir:index 20 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:81301-4 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "81301-4" ] ] ] ; fhir:Observation.component.valueRange [ fhir:Range.low [ fhir:Quantity.value [ fhir:value "13200589"^^xsd:decimal ] ] ; fhir:Range.high [ fhir:Quantity.value [ fhir:value "15592000"^^xsd:decimal ] ] ] ], [ fhir:index 21 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:81302-2 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "81302-2" ] ] ] ; fhir:Observation.component.valueRange [ fhir:Range.low [ fhir:Quantity.value [ fhir:value "14184616"^^xsd:decimal ] ] ; fhir:Range.high [ fhir:Quantity.value [ fhir:value "15581544"^^xsd:decimal ] ] ] ] . <http://hl7.org/fhir/Specimen/ExampleSpecimen> a fhir:Specimen . <http://example.org/fhir/Observation/dis-path> a fhir:Observation ; fhir:Resource.id [ fhir:value "dis-path"] ; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" ; fhir:index 0 ; fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication> ] ] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_dis-path\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation dis-path</b></p><a name=\"dis-path\"> </a><a name=\"hcdis-path\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-diagnostic-implication.html\">Diagnostic Implication</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</span></p><p><b>subject</b>: <a href=\"Patient-ExamplePatient.html\">Anonymous Patient (no stated gender), DoB Unknown</a></p><p><b>effective</b>: 2016</p><p><b>issued</b>: 2016-09-06 00:00:00-0500</p><p><b>performer</b>: <a href=\"Organization-ExampleLab.html\">Organization Some lab</a></p><p><b>derivedFrom</b>: <a href=\"Bundle-bundle-cgexample.html#Observation_discrete-variant\">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53037-8}\">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6668-3}\">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81259-4}\">Associated phenotype</span></p><p><b>value</b>: <span title=\"Codes:{http://purl.obolibrary.org/obo/mondo.owl MONDO:0012624}\">acyl-CoA dehydrogenase 9 deficiency</span></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:index 1 ; fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0074" ] ; fhir:Coding.code [ fhir:value "GE" ] ] ] ; fhir:Observation.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs" ] ; fhir:Coding.code [ fhir:value "diagnostic-implication" ] ] ] ; fhir:Observation.subject [ fhir:link <http://hl7.org/fhir/Patient/ExamplePatient> ; fhir:Reference.reference [ fhir:value "Patient/ExamplePatient" ] ] ; fhir:Observation.effectiveDateTime [ fhir:value "2016"^^xsd:gYear] ; fhir:Observation.issued [ fhir:value "2016-09-06T00:00:00-05:00"^^xsd:dateTime] ; fhir:Observation.performer [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/Organization/ExampleLab> ; fhir:Reference.reference [ fhir:value "Organization/ExampleLab" ] ] ; fhir:Observation.derivedFrom [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/Observation/discrete-variant> ; fhir:Reference.reference [ fhir:value "Observation/discrete-variant" ] ] ; fhir:Observation.component [ fhir:index 0 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:53037-8 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "53037-8" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:LA6668-3 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "LA6668-3" ] ; fhir:Coding.display [ fhir:value "Pathogenic" ] ] ] ], [ fhir:index 1 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:81259-4 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "81259-4" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://purl.obolibrary.org/obo/mondo.owl" ] ; fhir:Coding.code [ fhir:value "MONDO:0012624" ] ; fhir:Coding.display [ fhir:value "acyl-CoA dehydrogenase 9 deficiency" ] ] ] ] . <http://example.org/fhir/Observation/complex-variant> a fhir:Observation ; fhir:Resource.id [ fhir:value "complex-variant"] ; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" ; fhir:index 0 ; fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant> ] ] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_complex-variant\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation complex-variant</b></p><a name=\"complex-variant\"> </a><a name=\"hccomplex-variant\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-variant.html\">Variant</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"Patient-ExamplePatient.html\">Anonymous Patient (no stated gender), DoB Unknown</a></p><p><b>effective</b>: 2016</p><p><b>issued</b>: 2016-09-06 00:00:00-0500</p><p><b>performer</b>: <a href=\"Organization-ExampleLab.html\">Organization Some lab</a></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><p><b>specimen</b>: <a href=\"Specimen-ExampleSpecimen.html\">Specimen</a></p><p><b>hasMember</b>: </p><ul><li><a href=\"Bundle-bundle-cgexample.html#Observation_complex-component-D\">Observation Genetic variant assessment</a></li><li><a href=\"Bundle-bundle-cgexample.html#Observation_complex-component-E\">Observation Genetic variant assessment</a></li></ul></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:index 1 ; fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0074" ] ; fhir:Coding.code [ fhir:value "GE" ] ] ] ; fhir:Observation.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:69548-6 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "69548-6" ] ] ] ; fhir:Observation.subject [ fhir:link <http://hl7.org/fhir/Patient/ExamplePatient> ; fhir:Reference.reference [ fhir:value "Patient/ExamplePatient" ] ] ; fhir:Observation.effectiveDateTime [ fhir:value "2016"^^xsd:gYear] ; fhir:Observation.issued [ fhir:value "2016-09-06T00:00:00-05:00"^^xsd:dateTime] ; fhir:Observation.performer [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/Organization/ExampleLab> ; fhir:Reference.reference [ fhir:value "Organization/ExampleLab" ] ] ; fhir:Observation.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:LA9633-4 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "LA9633-4" ] ; fhir:Coding.display [ fhir:value "Present" ] ] ] ; fhir:Observation.specimen [ fhir:link <http://hl7.org/fhir/Specimen/ExampleSpecimen> ; fhir:Reference.reference [ fhir:value "Specimen/ExampleSpecimen" ] ] ; fhir:Observation.hasMember [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/Observation/complex-component-D> ; fhir:Reference.reference [ fhir:value "Observation/complex-component-D" ] ], [ fhir:index 1 ; fhir:link <http://hl7.org/fhir/Observation/complex-component-E> ; fhir:Reference.reference [ fhir:value "Observation/complex-component-E" ] ] . <http://hl7.org/fhir/Observation/complex-component-D> a fhir:Observation . <http://hl7.org/fhir/Observation/complex-component-E> a fhir:Observation . <http://example.org/fhir/Observation/complex-dis-path> a fhir:Observation ; fhir:Resource.id [ fhir:value "complex-dis-path"] ; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication" ; fhir:index 0 ; fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication> ] ] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_complex-dis-path\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation complex-dis-path</b></p><a name=\"complex-dis-path\"> </a><a name=\"hccomplex-dis-path\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-diagnostic-implication.html\">Diagnostic Implication</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</span></p><p><b>subject</b>: <a href=\"Patient-ExamplePatient.html\">Anonymous Patient (no stated gender), DoB Unknown</a></p><p><b>effective</b>: 2016</p><p><b>issued</b>: 2016-09-06 00:00:00-0500</p><p><b>performer</b>: <a href=\"Organization-ExampleLab.html\">Organization Some lab</a></p><p><b>derivedFrom</b>: <a href=\"Bundle-bundle-cgexample.html#Observation_complex-variant\">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53037-8}\">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6668-3}\">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81259-4}\">Associated phenotype</span></p><p><b>value</b>: <span title=\"Codes:{http://snomed.info/sct 293498008}\">Debrisoquine adverse reaction (disorder)</span></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:index 1 ; fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0074" ] ; fhir:Coding.code [ fhir:value "GE" ] ] ] ; fhir:Observation.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs" ] ; fhir:Coding.code [ fhir:value "diagnostic-implication" ] ] ] ; fhir:Observation.subject [ fhir:link <http://hl7.org/fhir/Patient/ExamplePatient> ; fhir:Reference.reference [ fhir:value "Patient/ExamplePatient" ] ] ; fhir:Observation.effectiveDateTime [ fhir:value "2016"^^xsd:gYear] ; fhir:Observation.issued [ fhir:value "2016-09-06T00:00:00-05:00"^^xsd:dateTime] ; fhir:Observation.performer [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/Organization/ExampleLab> ; fhir:Reference.reference [ fhir:value "Organization/ExampleLab" ] ] ; fhir:Observation.derivedFrom [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/Observation/complex-variant> ; fhir:Reference.reference [ fhir:value "Observation/complex-variant" ] ] ; fhir:Observation.component [ fhir:index 0 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:53037-8 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "53037-8" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:LA6668-3 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "LA6668-3" ] ; fhir:Coding.display [ fhir:value "Pathogenic" ] ] ] ], [ fhir:index 1 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:81259-4 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "81259-4" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; a sct:293498008 ; fhir:Coding.system [ fhir:value "http://snomed.info/sct" ] ; fhir:Coding.code [ fhir:value "293498008" ] ; fhir:Coding.display [ fhir:value "Debrisoquine adverse reaction (disorder)" ] ] ] ] . <http://example.org/fhir/Observation/complex-component-D> a fhir:Observation ; fhir:Resource.id [ fhir:value "complex-component-D"] ; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" ; fhir:index 0 ; fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant> ] ] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_complex-component-D\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation complex-component-D</b></p><a name=\"complex-component-D\"> </a><a name=\"hccomplex-component-D\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-variant.html\">Variant</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"Patient-ExamplePatient.html\">Anonymous Patient (no stated gender), DoB Unknown</a></p><p><b>effective</b>: 2016</p><p><b>issued</b>: 2016-09-06 00:00:00-0500</p><p><b>performer</b>: <a href=\"Organization-ExampleLab.html\">Organization Some lab</a></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><p><b>specimen</b>: <a href=\"Specimen-ExampleSpecimen.html\">Specimen</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81252-9}\">Discrete genetic variant</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/clinvar 31934}\">NM_000106.5(CYP2D6):c.886C>T (p.Arg296Cys)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NM_000106.5}\">NM_000106.5</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NM_000106.5:c.886C>T}\">NM_000106.5:c.886C>T</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NP_000097.3:p.Arg296Cys}\">NP_000097.3:p.Arg296Cys</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6690-7}\">Substitution</span></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:index 1 ; fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0074" ] ; fhir:Coding.code [ fhir:value "GE" ] ] ] ; fhir:Observation.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:69548-6 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "69548-6" ] ; fhir:Coding.display [ fhir:value "Genetic variant assessment" ] ] ] ; fhir:Observation.subject [ fhir:link <http://hl7.org/fhir/Patient/ExamplePatient> ; fhir:Reference.reference [ fhir:value "Patient/ExamplePatient" ] ] ; fhir:Observation.effectiveDateTime [ fhir:value "2016"^^xsd:gYear] ; fhir:Observation.issued [ fhir:value "2016-09-06T00:00:00-05:00"^^xsd:dateTime] ; fhir:Observation.performer [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/Organization/ExampleLab> ; fhir:Reference.reference [ fhir:value "Organization/ExampleLab" ] ] ; fhir:Observation.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:LA9633-4 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "LA9633-4" ] ; fhir:Coding.display [ fhir:value "Present" ] ] ] ; fhir:Observation.specimen [ fhir:link <http://hl7.org/fhir/Specimen/ExampleSpecimen> ; fhir:Reference.reference [ fhir:value "Specimen/ExampleSpecimen" ] ] ; fhir:Observation.component [ fhir:index 0 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:81252-9 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "81252-9" ] ; fhir:Coding.display [ fhir:value "Discrete genetic variant" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/clinvar" ] ; fhir:Coding.code [ fhir:value "31934" ] ; fhir:Coding.display [ fhir:value "NM_000106.5(CYP2D6):c.886C>T (p.Arg296Cys)" ] ] ] ], [ fhir:index 1 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:51958-7 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "51958-7" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/refseq" ] ; fhir:Coding.code [ fhir:value "NM_000106.5" ] ] ] ], [ fhir:index 2 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:48004-6 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "48004-6" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ] ; fhir:Coding.code [ fhir:value "NM_000106.5:c.886C>T" ] ] ] ], [ fhir:index 3 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:48005-3 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "48005-3" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ] ; fhir:Coding.code [ fhir:value "NP_000097.3:p.Arg296Cys" ] ] ] ], [ fhir:index 4 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:48019-4 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "48019-4" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:LA6690-7 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "LA6690-7" ] ; fhir:Coding.display [ fhir:value "Substitution" ] ] ] ] . <http://example.org/fhir/Observation/complex-component-E> a fhir:Observation ; fhir:Resource.id [ fhir:value "complex-component-E"] ; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" ; fhir:index 0 ; fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant> ] ] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_complex-component-E\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation complex-component-E</b></p><a name=\"complex-component-E\"> </a><a name=\"hccomplex-component-E\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-variant.html\">Variant</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"Patient-ExamplePatient.html\">Anonymous Patient (no stated gender), DoB Unknown</a></p><p><b>effective</b>: 2016</p><p><b>issued</b>: 2016-09-06 00:00:00-0500</p><p><b>performer</b>: <a href=\"Organization-ExampleLab.html\">Organization Some lab</a></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><p><b>specimen</b>: <a href=\"Specimen-ExampleSpecimen.html\">Specimen</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81252-9}\">Discrete genetic variant</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/clinvar 38486}\">NM_000106.5(CYP2D6):c.1457G>C (p.Ser486Thr)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NM_000106.5}\">NM_000106.5</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NM_000106.5:c.1457G>C}\">NM_000106.5:c.1457G>C</span></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:index 1 ; fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0074" ] ; fhir:Coding.code [ fhir:value "GE" ] ] ] ; fhir:Observation.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:69548-6 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "69548-6" ] ; fhir:Coding.display [ fhir:value "Genetic variant assessment" ] ] ] ; fhir:Observation.subject [ fhir:link <http://hl7.org/fhir/Patient/ExamplePatient> ; fhir:Reference.reference [ fhir:value "Patient/ExamplePatient" ] ] ; fhir:Observation.effectiveDateTime [ fhir:value "2016"^^xsd:gYear] ; fhir:Observation.issued [ fhir:value "2016-09-06T00:00:00-05:00"^^xsd:dateTime] ; fhir:Observation.performer [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/Organization/ExampleLab> ; fhir:Reference.reference [ fhir:value "Organization/ExampleLab" ] ] ; fhir:Observation.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:LA9633-4 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "LA9633-4" ] ; fhir:Coding.display [ fhir:value "Present" ] ] ] ; fhir:Observation.specimen [ fhir:link <http://hl7.org/fhir/Specimen/ExampleSpecimen> ; fhir:Reference.reference [ fhir:value "Specimen/ExampleSpecimen" ] ] ; fhir:Observation.component [ fhir:index 0 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:81252-9 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "81252-9" ] ; fhir:Coding.display [ fhir:value "Discrete genetic variant" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/clinvar" ] ; fhir:Coding.version [ fhir:value "???" ] ; fhir:Coding.code [ fhir:value "38486" ] ; fhir:Coding.display [ fhir:value "NM_000106.5(CYP2D6):c.1457G>C (p.Ser486Thr)" ] ] ] ], [ fhir:index 1 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:51958-7 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "51958-7" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://www.ncbi.nlm.nih.gov/refseq" ] ; fhir:Coding.code [ fhir:value "NM_000106.5" ] ] ] ], [ fhir:index 2 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:48004-6 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "48004-6" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ] ; fhir:Coding.code [ fhir:value "NM_000106.5:c.1457G>C" ] ] ] ] . <http://example.org/fhir/Observation/haplotype> a fhir:Observation ; fhir:Resource.id [ fhir:value "haplotype"] ; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype" ; fhir:index 0 ; fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype> ] ] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_haplotype\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation haplotype</b></p><a name=\"haplotype\"> </a><a name=\"hchaplotype\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-haplotype.html\">Haplotype</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 84414-2}\">Haplotype name</span></p><p><b>subject</b>: <a href=\"Patient-ExamplePatient.html\">Anonymous Patient (no stated gender), DoB Unknown</a></p><p><b>effective</b>: 2016</p><p><b>issued</b>: 2016-09-06 00:00:00-0500</p><p><b>performer</b>: <a href=\"Organization-ExampleLab.html\">Organization Some lab</a></p><p><b>value</b>: <span title=\"Codes:{http://www.ebi.ac.uk/ipd/imgt/hla *2}\">*2</span></p><p><b>specimen</b>: <a href=\"Specimen-ExampleSpecimen.html\">Specimen</a></p><p><b>derivedFrom</b>: <a href=\"Bundle-bundle-cgexample.html#Observation_discrete-variant\">Observation Genetic variant assessment</a></p></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:index 1 ; fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0074" ] ; fhir:Coding.code [ fhir:value "GE" ] ] ] ; fhir:Observation.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:84414-2 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "84414-2" ] ] ] ; fhir:Observation.subject [ fhir:link <http://hl7.org/fhir/Patient/ExamplePatient> ; fhir:Reference.reference [ fhir:value "Patient/ExamplePatient" ] ] ; fhir:Observation.effectiveDateTime [ fhir:value "2016"^^xsd:gYear] ; fhir:Observation.issued [ fhir:value "2016-09-06T00:00:00-05:00"^^xsd:dateTime] ; fhir:Observation.performer [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/Organization/ExampleLab> ; fhir:Reference.reference [ fhir:value "Organization/ExampleLab" ] ] ; fhir:Observation.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://www.ebi.ac.uk/ipd/imgt/hla" ] ; fhir:Coding.code [ fhir:value "*2" ] ] ] ; fhir:Observation.specimen [ fhir:link <http://hl7.org/fhir/Specimen/ExampleSpecimen> ; fhir:Reference.reference [ fhir:value "Specimen/ExampleSpecimen" ] ] ; fhir:Observation.derivedFrom [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/Observation/discrete-variant> ; fhir:Reference.reference [ fhir:value "Observation/discrete-variant" ] ] . <http://example.org/fhir/Observation/genotype> a fhir:Observation ; fhir:Resource.id [ fhir:value "genotype"] ; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype" ; fhir:index 0 ; fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype> ] ] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_genotype\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation genotype</b></p><a name=\"genotype\"> </a><a name=\"hcgenotype\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-genotype.html\">Genotype</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 84413-4}\">Genotype display name</span></p><p><b>subject</b>: <a href=\"Patient-ExamplePatient.html\">Anonymous Patient (no stated gender), DoB Unknown</a></p><p><b>effective</b>: 2016</p><p><b>issued</b>: 2016-09-06 00:00:00-0500</p><p><b>performer</b>: <a href=\"Organization-ExampleLab.html\">Organization Some lab</a></p><p><b>value</b>: <span title=\"Codes:{http://www.pharmvar.org CYP2C9 *2/*5}\">CYP2C9 *2/*5</span></p><p><b>specimen</b>: <a href=\"Specimen-ExampleSpecimen.html\">Specimen</a></p><p><b>derivedFrom</b>: <a href=\"Bundle-bundle-cgexample.html#Observation_haplotype\">Observation Haplotype name</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org HGNC:2623}\">CYP2C9</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org HGNC:23663}\">VKORC1</span></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:index 1 ; fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0074" ] ; fhir:Coding.code [ fhir:value "GE" ] ] ] ; fhir:Observation.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:84413-4 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "84413-4" ] ] ] ; fhir:Observation.subject [ fhir:link <http://hl7.org/fhir/Patient/ExamplePatient> ; fhir:Reference.reference [ fhir:value "Patient/ExamplePatient" ] ] ; fhir:Observation.effectiveDateTime [ fhir:value "2016"^^xsd:gYear] ; fhir:Observation.issued [ fhir:value "2016-09-06T00:00:00-05:00"^^xsd:dateTime] ; fhir:Observation.performer [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/Organization/ExampleLab> ; fhir:Reference.reference [ fhir:value "Organization/ExampleLab" ] ] ; fhir:Observation.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://www.pharmvar.org" ] ; fhir:Coding.code [ fhir:value "CYP2C9 *2/*5" ] ; fhir:Coding.display [ fhir:value "CYP2C9 *2/*5" ] ] ] ; fhir:Observation.specimen [ fhir:link <http://hl7.org/fhir/Specimen/ExampleSpecimen> ; fhir:Reference.reference [ fhir:value "Specimen/ExampleSpecimen" ] ] ; fhir:Observation.derivedFrom [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/Observation/haplotype> ; fhir:Reference.reference [ fhir:value "Observation/haplotype" ] ] ; fhir:Observation.component [ fhir:index 0 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:48018-6 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "48018-6" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://www.genenames.org" ] ; fhir:Coding.code [ fhir:value "HGNC:2623" ] ; fhir:Coding.display [ fhir:value "CYP2C9" ] ] ] ], [ fhir:index 1 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:48018-6 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "48018-6" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://www.genenames.org" ] ; fhir:Coding.code [ fhir:value "HGNC:23663" ] ; fhir:Coding.display [ fhir:value "VKORC1" ] ] ] ] . <http://example.org/fhir/Observation/metab> a fhir:Observation ; fhir:Resource.id [ fhir:value "metab"] ; 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\"><a name=\"Observation_metab\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation metab</b></p><a name=\"metab\"> </a><a name=\"hcmetab\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-therapeutic-implication.html\">Therapeutic Implication</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}\">Therapeutic Implication</span></p><p><b>subject</b>: <a href=\"Patient-ExamplePatient.html\">Anonymous Patient (no stated gender), DoB Unknown</a></p><p><b>effective</b>: 2016</p><p><b>issued</b>: 2016-09-06 00:00:00-0500</p><p><b>performer</b>: <a href=\"Organization-ExampleLab.html\">Organization Some lab</a></p><p><b>derivedFrom</b>: <a href=\"Bundle-bundle-cgexample.html#Observation_genotype\">Observation Genotype display name</a></p><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://www.nlm.nih.gov/research/umls/rxnorm 11289}\">Warfarin</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}\">Therapeutic Implication</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA25390-8}\">Rapid metabolizer</span></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:index 1 ; fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0074" ] ; fhir:Coding.code [ fhir:value "GE" ] ] ] ; fhir:Observation.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs" ] ; fhir:Coding.code [ fhir:value "therapeutic-implication" ] ] ] ; fhir:Observation.subject [ fhir:link <http://hl7.org/fhir/Patient/ExamplePatient> ; fhir:Reference.reference [ fhir:value "Patient/ExamplePatient" ] ] ; fhir:Observation.effectiveDateTime [ fhir:value "2016"^^xsd:gYear] ; fhir:Observation.issued [ fhir:value "2016-09-06T00:00:00-05:00"^^xsd:dateTime] ; fhir:Observation.performer [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/Organization/ExampleLab> ; fhir:Reference.reference [ fhir:value "Organization/ExampleLab" ] ] ; fhir:Observation.derivedFrom [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/Observation/genotype> ; fhir:Reference.reference [ fhir:value "Observation/genotype" ] ] ; 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://www.nlm.nih.gov/research/umls/rxnorm" ] ; fhir:Coding.code [ fhir:value "11289" ] ; fhir:Coding.display [ fhir:value "Warfarin" ] ] ] ], [ fhir:index 1 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs" ] ; fhir:Coding.code [ fhir:value "therapeutic-implication" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:LA25390-8 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "LA25390-8" ] ; fhir:Coding.display [ fhir:value "Rapid metabolizer" ] ] ] ] . <http://example.org/fhir/Observation/efficacy> a fhir:Observation ; fhir:Resource.id [ fhir:value "efficacy"] ; 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\"><a name=\"Observation_efficacy\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation efficacy</b></p><a name=\"efficacy\"> </a><a name=\"hcefficacy\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-therapeutic-implication.html\">Therapeutic Implication</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}\">Therapeutic Implication</span></p><p><b>subject</b>: <a href=\"Patient-ExamplePatient.html\">Anonymous Patient (no stated gender), DoB Unknown</a></p><p><b>effective</b>: 2016</p><p><b>issued</b>: 2016-09-06 00:00:00-0500</p><p><b>performer</b>: <a href=\"Organization-ExampleLab.html\">Organization Some lab</a></p><p><b>derivedFrom</b>: <a href=\"Bundle-bundle-cgexample.html#Observation_genotype\">Observation Genotype display name</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}\">Therapeutic Implication</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6676-6}\">Resistant</span></p></blockquote><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://www.nlm.nih.gov/research/umls/rxnorm 11289}\">Warfarin</span></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:index 1 ; fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0074" ] ; fhir:Coding.code [ fhir:value "GE" ] ] ] ; fhir:Observation.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs" ] ; fhir:Coding.code [ fhir:value "therapeutic-implication" ] ] ] ; fhir:Observation.subject [ fhir:link <http://hl7.org/fhir/Patient/ExamplePatient> ; fhir:Reference.reference [ fhir:value "Patient/ExamplePatient" ] ] ; fhir:Observation.effectiveDateTime [ fhir:value "2016"^^xsd:gYear] ; fhir:Observation.issued [ fhir:value "2016-09-06T00:00:00-05:00"^^xsd:dateTime] ; fhir:Observation.performer [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/Organization/ExampleLab> ; fhir:Reference.reference [ fhir:value "Organization/ExampleLab" ] ] ; fhir:Observation.derivedFrom [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/Observation/genotype> ; fhir:Reference.reference [ fhir:value "Observation/genotype" ] ] ; fhir:Observation.component [ fhir:index 0 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs" ] ; fhir:Coding.code [ fhir:value "therapeutic-implication" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:LA6676-6 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "LA6676-6" ] ; fhir:Coding.display [ fhir:value "Resistant" ] ] ] ], [ fhir:index 1 ; 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://www.nlm.nih.gov/research/umls/rxnorm" ] ; fhir:Coding.code [ fhir:value "11289" ] ; fhir:Coding.display [ fhir:value "Warfarin" ] ] ] ] . <http://example.org/fhir/Observation/highrisk> a fhir:Observation ; fhir:Resource.id [ fhir:value "highrisk"] ; 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\"><a name=\"Observation_highrisk\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation highrisk</b></p><a name=\"highrisk\"> </a><a name=\"hchighrisk\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-therapeutic-implication.html\">Therapeutic Implication</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}\">Therapeutic Implication</span></p><p><b>subject</b>: <a href=\"Patient-ExamplePatient.html\">Anonymous Patient (no stated gender), DoB Unknown</a></p><p><b>effective</b>: 2016</p><p><b>issued</b>: 2016-09-06 00:00:00-0500</p><p><b>performer</b>: <a href=\"Organization-ExampleLab.html\">Organization Some lab</a></p><p><b>derivedFrom</b>: <a href=\"Bundle-bundle-cgexample.html#Observation_genotype\">Observation Genotype display name</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}\">Therapeutic Implication</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA19542-2}\">Low risk</span></p></blockquote><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://www.nlm.nih.gov/research/umls/rxnorm 11289}\">Warfarin</span></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:index 1 ; fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0074" ] ; fhir:Coding.code [ fhir:value "GE" ] ] ] ; fhir:Observation.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs" ] ; fhir:Coding.code [ fhir:value "therapeutic-implication" ] ] ] ; fhir:Observation.subject [ fhir:link <http://hl7.org/fhir/Patient/ExamplePatient> ; fhir:Reference.reference [ fhir:value "Patient/ExamplePatient" ] ] ; fhir:Observation.effectiveDateTime [ fhir:value "2016"^^xsd:gYear] ; fhir:Observation.issued [ fhir:value "2016-09-06T00:00:00-05:00"^^xsd:dateTime] ; fhir:Observation.performer [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/Organization/ExampleLab> ; fhir:Reference.reference [ fhir:value "Organization/ExampleLab" ] ] ; fhir:Observation.derivedFrom [ fhir:index 0 ; fhir:link <http://hl7.org/fhir/Observation/genotype> ; fhir:Reference.reference [ fhir:value "Observation/genotype" ] ] ; fhir:Observation.component [ fhir:index 0 ; fhir:Observation.component.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs" ] ; fhir:Coding.code [ fhir:value "therapeutic-implication" ] ] ] ; fhir:Observation.component.valueCodeableConcept [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:LA19542-2 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "LA19542-2" ] ; fhir:Coding.display [ fhir:value "Low risk" ] ] ] ], [ fhir:index 1 ; 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://www.nlm.nih.gov/research/umls/rxnorm" ] ; fhir:Coding.code [ fhir:value "11289" ] ; fhir:Coding.display [ fhir:value "Warfarin" ] ] ] ] . <http://example.org/fhir/Task/usage> a fhir:Task ; fhir:Resource.id [ fhir:value "usage"] ; fhir:Resource.meta [ fhir:Meta.profile [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/medication-recommendation" ; fhir:index 0 ; fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/medication-recommendation> ] ] ; fhir:DomainResource.text [ fhir:Narrative.status [ fhir:value "generated" ] ; fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Task_usage\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Task usage</b></p><a name=\"usage\"> </a><a name=\"hcusage\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-medication-recommendation.html\">Medication Recommendation</a></p></div><p><b>status</b>: Requested</p><p><b>intent</b>: proposal</p><p><b>code</b>: <span title=\"Codes:{http://loinc.org LA26423-6}\">May need higher dosage than usual.</span></p><p><b>focus</b>: <a href=\"MedicationStatement-MedicationStatementWarfarin.html\">MedicationStatement: status = unknown; medication[x] = Warfarin</a></p><p><b>for</b>: <a href=\"Patient-ExamplePatient.html\">Anonymous Patient (no stated gender), DoB Unknown</a></p><p><b>requester</b>: <a href=\"Organization-ExampleLab.html\">Organization Some lab</a></p><p><b>reasonReference</b>: <a href=\"Bundle-bundle-cgexample.html#Observation_metab\">Observation Therapeutic Implication</a></p></div>" ] ; fhir:Task.status [ fhir:value "requested"] ; fhir:Task.intent [ fhir:value "proposal"] ; fhir:Task.code [ fhir:CodeableConcept.coding [ fhir:index 0 ; a loinc:LA26423-6 ; fhir:Coding.system [ fhir:value "http://loinc.org" ] ; fhir:Coding.code [ fhir:value "LA26423-6" ] ; fhir:Coding.display [ fhir:value "Increase dose" ] ] ; fhir:CodeableConcept.text [ fhir:value "May need higher dosage than usual." ] ] ; fhir:Task.focus [ fhir:link <http://hl7.org/fhir/MedicationStatement/MedicationStatementWarfarin> ; fhir:Reference.reference [ fhir:value "MedicationStatement/MedicationStatementWarfarin" ] ] ; fhir:Task.for [ fhir:link <http://hl7.org/fhir/Patient/ExamplePatient> ; fhir:Reference.reference [ fhir:value "Patient/ExamplePatient" ] ] ; fhir:Task.requester [ fhir:link <http://hl7.org/fhir/Organization/ExampleLab> ; fhir:Reference.reference [ fhir:value "Organization/ExampleLab" ] ] ; fhir:Task.reasonReference [ fhir:link <http://hl7.org/fhir/Observation/metab> ; fhir:Reference.reference [ fhir:value "Observation/metab" ] ] . <http://hl7.org/fhir/MedicationStatement/MedicationStatementWarfarin> a fhir:MedicationStatement . # - ontology header ------------------------------------------------------------ <http://hl7.org/fhir/Bundle/bundle-cgexample.ttl> a owl:Ontology ; owl:imports fhir:fhir.ttl ; owl:versionIRI <http://build.fhir.org/Bundle/bundle-cgexample.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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