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 sct: <http://snomed.info/id/> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
# - resource -------------------------------------------------------------------
a fhir:Bundle;
fhir:nodeRole fhir:treeRoot;
fhir:Resource.id [ fhir:value "diagnosticreport-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/patient" ];
fhir:Bundle.entry.resource <http://example.org/fhir/Patient/patient>
], [
fhir:index 2;
fhir:Bundle.entry.fullUrl [ fhir:value "http://example.org/fhir/Specimen/specimen" ];
fhir:Bundle.entry.resource <http://example.org/fhir/Specimen/specimen>
], [
fhir:index 3;
fhir:Bundle.entry.fullUrl [ fhir:value "http://example.org/fhir/Organization/lab" ];
fhir:Bundle.entry.resource <http://example.org/fhir/Organization/lab>
], [
fhir:index 4;
fhir:Bundle.entry.fullUrl [ fhir:value "http://example.org/fhir/DiagnosticRequest/request" ];
fhir:Bundle.entry.resource <http://example.org/fhir/DiagnosticRequest/request>
], [
fhir:index 5;
fhir:Bundle.entry.fullUrl [ fhir:value "http://example.org/fhir/Observation/overall-interp" ];
fhir:Bundle.entry.resource <http://example.org/fhir/Observation/overall-interp>
], [
fhir:index 6;
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 7;
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 8;
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 9;
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 10;
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 11;
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 12;
fhir:Bundle.entry.fullUrl [ fhir:value "http://example.org/fhir/Observation/pharmPanel" ];
fhir:Bundle.entry.resource <http://example.org/fhir/Observation/pharmPanel>
], [
fhir:index 13;
fhir:Bundle.entry.fullUrl [ fhir:value "http://example.org/fhir/Observation/haplotype" ];
fhir:Bundle.entry.resource <http://example.org/fhir/Observation/haplotype>
], [
fhir:index 14;
fhir:Bundle.entry.fullUrl [ fhir:value "http://example.org/fhir/Observation/genotype" ];
fhir:Bundle.entry.resource <http://example.org/fhir/Observation/genotype>
], [
fhir:index 15;
fhir:Bundle.entry.fullUrl [ fhir:value "http://example.org/fhir/Observation/metab" ];
fhir:Bundle.entry.resource <http://example.org/fhir/Observation/metab>
], [
fhir:index 16;
fhir:Bundle.entry.fullUrl [ fhir:value "http://example.org/fhir/Observation/efficacy" ];
fhir:Bundle.entry.resource <http://example.org/fhir/Observation/efficacy>
], [
fhir:index 17;
fhir:Bundle.entry.fullUrl [ fhir:value "http://example.org/fhir/Observation/highrisk" ];
fhir:Bundle.entry.resource <http://example.org/fhir/Observation/highrisk>
], [
fhir:index 18;
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/genomics-report";
fhir:index 0;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-report> ]
];
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\">TODO</div>"
];
fhir:DiagnosticReport.basedOn [
fhir:index 0;
fhir:Reference.reference [ fhir:value "DiagnosticRequest/request" ]
];
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:81247-9;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "81247-9" ] ]
];
fhir:DiagnosticReport.subject [
fhir:Reference.reference [ fhir:value "Patient/patient" ]
];
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:Reference.reference [ fhir:value "Organization/lab" ]
];
fhir:DiagnosticReport.result [
fhir:index 0;
fhir:Reference.reference [ fhir:value "Observation/overall-interp" ]
], [
fhir:index 1;
fhir:Reference.reference [ fhir:value "Observation/discrete-variant" ]
], [
fhir:index 2;
fhir:Reference.reference [ fhir:value "Observation/dis-path" ]
], [
fhir:index 3;
fhir:Reference.reference [ fhir:value "Observation/complex-variant" ]
], [
fhir:index 4;
fhir:Reference.reference [ fhir:value "Observation/complex-dis-path" ]
], [
fhir:index 5;
fhir:Reference.reference [ fhir:value "Observation/pharmPanel" ]
];
fhir:DiagnosticReport.presentedForm [
fhir:index 0;
fhir:Attachment.contentType [ fhir:value "text/plain" ];
fhir:Attachment.data [ fhir:value "UHV0IHRoZSByZXBvcnQgdGV4dCBoZXJlIC0gbWltZS1lbmNvZGVk"^^xsd:base64Binary ]
].
<http://example.org/fhir/Patient/patient> a fhir:Patient;
fhir:Resource.id [ fhir:value "patient"];
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "additional" ];
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\">This would contain patient identifiers, demographics, etc.</div>"
].
<http://example.org/fhir/Specimen/specimen> a fhir:Specimen;
fhir:Resource.id [ fhir:value "specimen"];
fhir:Resource.meta [
fhir:Meta.profile [
fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/specimen";
fhir:index 0;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/specimen> ]
];
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\">TODO</div>"
];
fhir:Specimen.subject [
fhir:Reference.reference [ fhir:value "Patient/patient" ]
].
<http://example.org/fhir/Organization/lab> a fhir:Organization;
fhir:Resource.id [ fhir:value "lab"];
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\">TODO</div>"
];
fhir:Organization.name [ fhir:value "Some lab"].
<http://example.org/fhir/DiagnosticRequest/request> a fhir:ServiceRequest;
fhir:Resource.id [ fhir:value "request"];
fhir:Resource.meta [
fhir:Meta.profile [
fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/servicerequest";
fhir:index 0;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/servicerequest> ]
];
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\">TODO</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:81247-9;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "81247-9" ] ]
];
fhir:ServiceRequest.subject [
fhir:Reference.reference [ fhir:value "Patient/patient" ]
];
fhir:ServiceRequest.reasonCode [
fhir:index 0;
fhir:CodeableConcept.text [ fhir:value "Worried about family planning" ]
].
<http://example.org/fhir/Observation/overall-interp> a fhir:Observation;
fhir:Resource.id [ fhir:value "overall-interp"];
fhir:Resource.meta [
fhir:Meta.profile [
fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/overall-interpretation";
fhir:index 0;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/overall-interpretation> ]
];
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\">TODO</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;
a loinc:51968-6;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "51968-6" ] ]
];
fhir:Observation.subject [
fhir:Reference.reference [ fhir:value "Patient/patient" ]
];
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:Reference.reference [ fhir:value "Organization/lab" ]
];
fhir:Observation.valueCodeableConcept [
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;
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:Observation.specimen [
fhir:Reference.reference [ fhir:value "Specimen/specimen" ]
].
<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\">TODO</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;
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:Reference.reference [ fhir:value "Patient/patient" ]
];
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:Reference.reference [ fhir:value "Organization/lab" ]
];
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:Reference.reference [ fhir:value "Specimen/specimen" ]
];
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://example.org/clinvar" ];
fhir:Coding.version [ fhir:value "???" ];
fhir:Coding.code [ fhir:value "30880" ];
fhir:Coding.display [ fhir:value "NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys)" ] ], [
fhir:index 1;
fhir:Coding.system [ fhir:value "http://example.org/cigar" ];
fhir:Coding.code [ fhir:value "tbd" ] ] ]
], [
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://example.org/hgnc" ];
fhir:Coding.code [ fhir:value "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:81255-2;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "81255-2" ] ] ];
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0;
fhir:Coding.system [ fhir:value "http://example.org/dbsnp" ];
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.version [ fhir:value "15.11" ];
fhir:Coding.code [ fhir:value "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.version [ fhir:value "15.11" ];
fhir:Coding.code [ fhir:value "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:48006-1;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "48006-1" ] ] ];
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0;
a loinc:LA6698-0;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "LA6698-0" ];
fhir:Coding.display [ fhir:value "Missense" ] ] ]
], [
fhir:index 10;
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 11;
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 "exact-start-end" ] ] ];
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 12;
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 13;
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.coding [
fhir:index 0;
fhir:Coding.system [ fhir:value "http://example.org/Chrom-Loc" ];
fhir:Coding.code [ fhir:value "3q21" ] ] ]
], [
fhir:index 14;
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 15;
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 16;
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 17;
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 18;
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 19;
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 20;
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 21;
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 22;
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://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\">TODO</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 "diagnostic-implication" ] ]
];
fhir:Observation.subject [
fhir:Reference.reference [ fhir:value "Patient/patient" ]
];
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:Reference.reference [ fhir:value "Organization/lab" ]
];
fhir:Observation.derivedFrom [
fhir:index 0;
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://example.org/MedGen-Dis" ];
fhir:Coding.code [ fhir:value "C1970173" ];
fhir:Coding.display [ fhir:value "Acyl-CoA dehydrogenase family, member 9, deficiency of" ] ] ]
].
<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\">TODO</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;
a loinc:69548-6;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "69548-6" ] ]
];
fhir:Observation.subject [
fhir:Reference.reference [ fhir:value "Patient/patient" ]
];
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:Reference.reference [ fhir:value "Organization/lab" ]
];
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:Reference.reference [ fhir:value "Specimen/specimen" ]
];
fhir:Observation.hasMember [
fhir:index 0;
fhir:Reference.reference [ fhir:value "Observation/complex-component-D" ]
], [
fhir:index 1;
fhir:Reference.reference [ fhir:value "Observation/complex-component-E" ]
];
fhir:Observation.component [
fhir:index 0;
fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0;
a loinc:81263-6;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "81263-6" ] ] ];
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0;
a loinc:LA26218-0;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "LA26218-0" ];
fhir:Coding.display [ fhir:value "Haplotype" ] ] ]
].
<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\">TODO</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 "diagnostic-implication" ] ]
];
fhir:Observation.subject [
fhir:Reference.reference [ fhir:value "Patient/patient" ]
];
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:Reference.reference [ fhir:value "Organization/lab" ]
];
fhir:Observation.derivedFrom [
fhir:index 0;
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\">TODO</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;
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:Reference.reference [ fhir:value "Patient/patient" ]
];
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:Reference.reference [ fhir:value "Organization/lab" ]
];
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:Reference.reference [ fhir:value "Specimen/specimen" ]
];
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://example.org/clinvar" ];
fhir:Coding.version [ fhir:value "???" ];
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://example.org/RefSeq-T" ];
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.version [ fhir:value "15.11" ];
fhir:Coding.code [ fhir:value "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.version [ fhir:value "15.11" ];
fhir:Coding.code [ fhir:value "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" ] ] ]
], [
fhir:index 5;
fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0;
a loinc:48006-1;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "48006-1" ] ] ];
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0;
a loinc:LA6698-0;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "LA6698-0" ];
fhir:Coding.display [ fhir:value "Missense" ] ] ]
].
<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\">TODO</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;
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:Reference.reference [ fhir:value "Patient/patient" ]
];
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:Reference.reference [ fhir:value "Organization/lab" ]
];
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:Reference.reference [ fhir:value "Specimen/specimen" ]
];
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://example.org/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://example.org/RefSeq-T" ];
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.version [ fhir:value "15.11" ];
fhir:Coding.code [ fhir:value "c.1457G>C" ] ] ]
].
<http://example.org/fhir/Observation/pharmPanel> a fhir:Observation;
fhir:Resource.id [ fhir:value "pharmPanel"];
fhir:Resource.meta [
fhir:Meta.profile [
fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/grouper";
fhir:index 0;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/grouper> ]
];
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\">TODO</div>"
];
fhir:DomainResource.extension [
fhir:index 0;
fhir:Extension.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/RecommendedAction" ];
fhir:Extension.valueReference [
fhir:Reference.reference [ fhir:value "Task/usage" ] ]
];
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 "grouper" ] ]
];
fhir:Observation.subject [
fhir:Reference.reference [ fhir:value "Patient/patient" ]
];
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:Reference.reference [ fhir:value "Organization/lab" ]
];
fhir:Observation.hasMember [
fhir:index 0;
fhir:Reference.reference [ fhir:value "Observation/haplotype" ]
], [
fhir:index 1;
fhir:Reference.reference [ fhir:value "Observation/genotype" ]
], [
fhir:index 2;
fhir:Reference.reference [ fhir:value "Observation/metab" ]
], [
fhir:index 3;
fhir:Reference.reference [ fhir:value "Observation/efficacy" ]
].
<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\">TODO</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;
a loinc:84414-2;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "84414-2" ] ]
];
fhir:Observation.subject [
fhir:Reference.reference [ fhir:value "Patient/patient" ]
];
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:Reference.reference [ fhir:value "Organization/lab" ]
];
fhir:Observation.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0;
fhir:Coding.system [ fhir:value "http://example.org/???" ];
fhir:Coding.code [ fhir:value "*2" ] ]
];
fhir:Observation.specimen [
fhir:Reference.reference [ fhir:value "Specimen/specimen" ]
];
fhir:Observation.derivedFrom [
fhir:index 0;
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\">TODO</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;
a loinc:84413-4;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "84413-4" ] ]
];
fhir:Observation.subject [
fhir:Reference.reference [ fhir:value "Patient/patient" ]
];
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:Reference.reference [ fhir:value "Organization/lab" ]
];
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:Reference.reference [ fhir:value "Specimen/specimen" ]
];
fhir:Observation.derivedFrom [
fhir:index 0;
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://example.org/hgnc" ];
fhir:Coding.code [ fhir:value "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://example.org/hgnc" ];
fhir:Coding.code [ fhir:value "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\">TODO</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.subject [
fhir:Reference.reference [ fhir:value "Patient/patient" ]
];
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:Reference.reference [ fhir:value "Organization/lab" ]
];
fhir:Observation.derivedFrom [
fhir:index 0;
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;
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: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\">TODO</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.subject [
fhir:Reference.reference [ fhir:value "Patient/patient" ]
];
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:Reference.reference [ fhir:value "Organization/lab" ]
];
fhir:Observation.derivedFrom [
fhir:index 0;
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:51961-1;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "51961-1" ] ] ];
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\">TODO</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.subject [
fhir:Reference.reference [ fhir:value "Patient/patient" ]
];
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:Reference.reference [ fhir:value "Organization/lab" ]
];
fhir:Observation.derivedFrom [
fhir:index 0;
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:83009-1;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "83009-1" ] ] ];
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/task-med-chg";
fhir:index 0;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/task-med-chg> ]
];
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\">TODO</div>"
];
fhir:DomainResource.contained [
a fhir:MedicationStatement;
fhir:index 0;
fhir:Resource.id [ fhir:value "med" ];
fhir:MedicationStatement.status [ fhir:value "unknown" ];
fhir:MedicationStatement.medicationCodeableConcept [
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:MedicationStatement.subject [
fhir:Reference.reference [ fhir:value "Patient/patient" ] ]
];
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:Reference.reference [ fhir:value "#med" ]
];
fhir:Task.for [
fhir:Reference.reference [ fhir:value "Patient/patient" ]
];
fhir:Task.requester [
fhir:Reference.reference [ fhir:value "Organization/lab" ]
];
fhir:Task.reasonReference [
fhir:Reference.reference [ fhir:value "Observation/metab" ]
].
# - ontology header ------------------------------------------------------------
a owl:Ontology;
owl:imports fhir:fhir.ttl.