Genomics Reporting Implementation Guide
1.1.0 - Ballot
Genomics Reporting Implementation Guide
1.1.0 - Ballot
This page is part of the Genetic Reporting Implementation Guide (v1.1.0: STU 2 Ballot 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions 
@prefix fhir: <http://hl7.org/fhir/> .
@prefix loinc: <http://loinc.org/rdf#> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
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fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p><b>identifier</b>: id: 1007</p><p><b>name</b>: Carrot John Mr </p><p><b>gender</b>: male</p><p><b>birthDate</b>: 1962-12-31</p><p><b>generalPractitioner</b>: <a href=\"#urnuuida48256f8-db37-44e0-a0f6-d7af16c7c9ef\">See above (Practitioner/null)</a></p></div>"
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fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p><b>identifier</b>: id: 4654765876</p><p><b>name</b>: Akerman Philip Prof </p><p><b>address</b>: Castro Valley CA </p></div>"
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fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p><b>identifier</b>: id: 076e1948-2217-11e9-94d8-12e241dc1f66</p><p><b>status</b>: available</p><p><b>subject</b>: <a href=\"#urnuuidd0b4affa-91d6-46d1-af01-b30d9f16ef6d\">See above (Patient/null)</a></p><h3>Collections</h3><table class=\"grid\"><tr><td>-</td><td><b>Collector</b></td></tr><tr><td>*</td><td><a href=\"#urnuuida48256f8-db37-44e0-a0f6-d7af16c7c9ef\">See above (Practitioner/null)</a></td></tr></table></div>"
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fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p></p><p><b>code</b>: <span title=\"Codes: \">Tumor Mutational Burden</span></p><p><b>subject</b>: <a href=\"#urnuuidd0b4affa-91d6-46d1-af01-b30d9f16ef6d\">See above (Patient/null)</a></p><p><b>performer</b>: <a href=\"#urnuuida48256f8-db37-44e0-a0f6-d7af16c7c9ef\">See above (Practitioner/null)</a></p><p><b>value</b>: 25.0 somatic variants per megabase of sequenced DNA</p><p><b>specimen</b>: <a href=\"#urnuuida5d6a6a9-4859-480e-85b2-56974fef3b9d\">See above (Specimen/null)</a></p></div>"
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fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p></p><p><b>code</b>: <span title=\"Codes: \">MSI status</span></p><p><b>subject</b>: <a href=\"#urnuuidd0b4affa-91d6-46d1-af01-b30d9f16ef6d\">See above (Patient/null)</a></p><p><b>performer</b>: <a href=\"#urnuuida48256f8-db37-44e0-a0f6-d7af16c7c9ef\">See above (Practitioner/null)</a></p><p><b>value</b>: High</p><p><b>specimen</b>: <a href=\"#urnuuida5d6a6a9-4859-480e-85b2-56974fef3b9d\">See above (Specimen/null)</a></p></div>"
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fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant> ]
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fhir:DomainResource.text [
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fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p></p><p><b>category</b>: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"#urnuuidd0b4affa-91d6-46d1-af01-b30d9f16ef6d\">See above (Patient/null)</a></p><p><b>performer</b>: <a href=\"#urnuuida48256f8-db37-44e0-a0f6-d7af16c7c9ef\">See above (Practitioner/null)</a></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></p><p><b>specimen</b>: <a href=\"#urnuuida5d6a6a9-4859-480e-85b2-56974fef3b9d\">See above (Specimen/null)</a></p><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 9:g.5073770G>T}\">9:g.5073770G>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 p.Val617Phe}\">p.Val617Phe</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48006-1}\">Amino acid change type</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA6698-0}\">Missense</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48002-0}\">Genomic source class</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 48018-6}\">Gene studied ID</span></p><p><b>value</b>: <span title=\"Codes: \">JAK2</span></p></blockquote></div>"
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fhir:Coding.display [ fhir:value "Genetic variant assessment" ] ]
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fhir:Coding.display [ fhir:value "JAK2" ] ] ]
].
<urn:uuid:772de7d7-e1bd-4183-bdb5-cea8eda317cd> a fhir:Observation;
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\"><p><b>Generated Narrative</b></p><p></p><p><b>category</b>: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"#urnuuidd0b4affa-91d6-46d1-af01-b30d9f16ef6d\">See above (Patient/null)</a></p><p><b>performer</b>: <a href=\"#urnuuida48256f8-db37-44e0-a0f6-d7af16c7c9ef\">See above (Practitioner/null)</a></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></p><p><b>specimen</b>: <a href=\"#urnuuida5d6a6a9-4859-480e-85b2-56974fef3b9d\">See above (Specimen/null)</a></p><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 4:g.55972974T>A}\">4:g.55972974T>A</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 p.Gln472His}\">p.Gln472His</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48006-1}\">Amino acid change type</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA6698-0}\">Missense</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48002-0}\">Genomic source class</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 48018-6}\">Gene studied ID</span></p><p><b>value</b>: <span title=\"Codes: \">KDR</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: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 "urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d" ]
];
fhir:Observation.performer [
fhir:index 0;
fhir:Reference.reference [ fhir:value "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef" ]
];
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.method [
fhir:CodeableConcept.coding [
fhir:index 0;
a loinc:LA26398-0;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "LA26398-0" ];
fhir:Coding.display [ fhir:value "Sequencing" ] ]
];
fhir:Observation.specimen [
fhir:Reference.reference [ fhir:value "urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d" ]
];
fhir:Observation.component [
fhir:index 0;
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:Coding.display [ fhir:value "Genomic DNA change (gHGVS)" ] ] ];
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0;
fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ];
fhir:Coding.code [ fhir:value "4:g.55972974T>A" ];
fhir:Coding.display [ fhir:value "4:g.55972974T>A" ] ] ]
], [
fhir:index 1;
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:Coding.display [ fhir:value "Amino acid change (pHGVS)" ] ] ];
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0;
fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ];
fhir:Coding.code [ fhir:value "p.Gln472His" ];
fhir:Coding.display [ fhir:value "p.Gln472His" ] ] ]
], [
fhir:index 2;
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:Coding.display [ fhir:value "Amino acid change type" ] ] ];
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 3;
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:Coding.display [ fhir:value "Genomic source class" ] ] ];
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 4;
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:Coding.display [ fhir:value "Gene studied ID" ] ] ];
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0;
fhir:Coding.system [ fhir:value "http://www.genenames.org/geneId" ];
fhir:Coding.display [ fhir:value "KDR" ] ] ]
].
<urn:uuid:b33eb7ec-d83e-49d2-b0f3-729d024ebe01> a fhir:Observation;
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\"><p><b>Generated Narrative</b></p><p></p><p><b>category</b>: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"#urnuuidd0b4affa-91d6-46d1-af01-b30d9f16ef6d\">See above (Patient/null)</a></p><p><b>performer</b>: <a href=\"#urnuuida48256f8-db37-44e0-a0f6-d7af16c7c9ef\">See above (Practitioner/null)</a></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></p><p><b>specimen</b>: <a href=\"#urnuuida5d6a6a9-4859-480e-85b2-56974fef3b9d\">See above (Specimen/null)</a></p><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 2:g.212578380del}\">2:g.212578380del</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48006-1}\">Amino acid change type</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA6698-0}\">Missense</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 48002-0}\">Genomic source class</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 48018-6}\">Gene studied ID</span></p><p><b>value</b>: <span title=\"Codes: \">ERBB4</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: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 "urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d" ]
];
fhir:Observation.performer [
fhir:index 0;
fhir:Reference.reference [ fhir:value "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef" ]
];
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.method [
fhir:CodeableConcept.coding [
fhir:index 0;
a loinc:LA26398-0;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "LA26398-0" ];
fhir:Coding.display [ fhir:value "Sequencing" ] ]
];
fhir:Observation.specimen [
fhir:Reference.reference [ fhir:value "urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d" ]
];
fhir:Observation.component [
fhir:index 0;
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:Coding.display [ fhir:value "Genomic DNA change (gHGVS)" ] ] ];
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0;
fhir:Coding.system [ fhir:value "http://varnomen.hgvs.org" ];
fhir:Coding.code [ fhir:value "2:g.212578380del" ];
fhir:Coding.display [ fhir:value "2:g.212578380del" ] ] ]
], [
fhir:index 1;
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:Coding.display [ fhir:value "Amino acid change type" ] ] ];
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 2;
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:Coding.display [ fhir:value "Genomic source class" ] ] ];
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 3;
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:Coding.display [ fhir:value "Gene studied ID" ] ] ];
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0;
fhir:Coding.system [ fhir:value "http://www.genenames.org/geneId" ];
fhir:Coding.display [ fhir:value "ERBB4" ] ] ]
].
<urn:uuid:1bf9642d-fd1c-4819-8c5d-44fae4bad524> a fhir:Observation;
fhir:Resource.meta [
fhir:Meta.profile [
fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication";
fhir:index 0;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication> ]
];
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p></p><p><b>category</b>: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes therapeutic-implication}\">Therapeutic Implication</span></p><p><b>subject</b>: <a href=\"#urnuuidd0b4affa-91d6-46d1-af01-b30d9f16ef6d\">See above (Patient/null)</a></p><p><b>performer</b>: <a href=\"#urnuuida48256f8-db37-44e0-a0f6-d7af16c7c9ef\">See above (Practitioner/null)</a></p><p><b>method</b>: <span title=\"Codes: {http://loinc.org LA26811-2}\">Computational analysis</span></p><p><b>specimen</b>: <a href=\"#urnuuida5d6a6a9-4859-480e-85b2-56974fef3b9d\">See above (Specimen/null)</a></p><p><b>derivedFrom</b>: <a href=\"#urnuuid16fdd5fc-e665-48af-99e4-48d603f3e12d\">See above (Observation/null)</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 51961-1}\">Genetic variation's effect on drug efficacy</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA6677-4}\">Responsive</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 93044-6}\">Level of Evidence</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA30200-2}\">Very strong evidence pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes associated-cancer}\">associated-cancer</span></p><p><b>value</b>: <span title=\"Codes: \">Polycythemia vera (PV)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 51963-7}\">Medication assessed</span></p><p><b>value</b>: <span title=\"Codes: \">Ruxolitinib</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: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:Coding.display [ fhir:value "Therapeutic Implication" ] ]
];
fhir:Observation.subject [
fhir:Reference.reference [ fhir:value "urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d" ]
];
fhir:Observation.performer [
fhir:index 0;
fhir:Reference.reference [ fhir:value "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef" ]
];
fhir:Observation.method [
fhir:CodeableConcept.coding [
fhir:index 0;
a loinc:LA26811-2;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "LA26811-2" ];
fhir:Coding.display [ fhir:value "Computational analysis" ] ]
];
fhir:Observation.specimen [
fhir:Reference.reference [ fhir:value "urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d" ]
];
fhir:Observation.derivedFrom [
fhir:index 0;
fhir:Reference.reference [ fhir:value "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d" ]
];
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:LA6677-4;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "LA6677-4" ];
fhir:Coding.display [ fhir:value "Responsive" ] ] ]
], [
fhir:index 1;
fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0;
a loinc:93044-6;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "93044-6" ];
fhir:Coding.display [ fhir:value "Level of Evidence" ] ] ];
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0;
a loinc:LA30200-2;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "LA30200-2" ];
fhir:Coding.display [ fhir:value "Very strong evidence pathogenic" ] ] ]
], [
fhir:index 2;
fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0;
fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes" ];
fhir:Coding.code [ fhir:value "associated-cancer" ] ] ];
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.text [ fhir:value "Polycythemia vera (PV)" ] ]
], [
fhir:index 3;
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:Coding.display [ fhir:value "Medication assessed" ] ] ];
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.text [ fhir:value "Ruxolitinib" ] ]
].
<urn:uuid:1301943b-55db-4adf-8355-3635f7268a1b> a fhir:Observation;
fhir:Resource.meta [
fhir:Meta.profile [
fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication";
fhir:index 0;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication> ]
];
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p></p><p><b>category</b>: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes therapeutic-implication}\">Therapeutic Implication</span></p><p><b>subject</b>: <a href=\"#urnuuidd0b4affa-91d6-46d1-af01-b30d9f16ef6d\">See above (Patient/null)</a></p><p><b>performer</b>: <a href=\"#urnuuida48256f8-db37-44e0-a0f6-d7af16c7c9ef\">See above (Practitioner/null)</a></p><p><b>method</b>: <span title=\"Codes: {http://loinc.org LA26811-2}\">Computational analysis</span></p><p><b>specimen</b>: <a href=\"#urnuuida5d6a6a9-4859-480e-85b2-56974fef3b9d\">See above (Specimen/null)</a></p><p><b>derivedFrom</b>: <a href=\"#urnuuid16fdd5fc-e665-48af-99e4-48d603f3e12d\">See above (Observation/null)</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 51961-1}\">Genetic variation's effect on drug efficacy</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA6677-4}\">Responsive</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 93044-6}\">Level of Evidence</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA30200-2}\">Very strong evidence pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes associated-cancer}\">associated-cancer</span></p><p><b>value</b>: <span title=\"Codes: \">Polycythemia vera (PV)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 51963-7}\">Medication assessed</span></p><p><b>value</b>: <span title=\"Codes: \">AT9283</span></p></blockquote></div>"
];
fhir:Observation.status [ fhir:value "final"];
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fhir:index 0;
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fhir:Coding.display [ fhir:value "Therapeutic Implication" ] ]
];
fhir:Observation.subject [
fhir:Reference.reference [ fhir:value "urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d" ]
];
fhir:Observation.performer [
fhir:index 0;
fhir:Reference.reference [ fhir:value "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef" ]
];
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fhir:CodeableConcept.coding [
fhir:index 0;
a loinc:LA26811-2;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "LA26811-2" ];
fhir:Coding.display [ fhir:value "Computational analysis" ] ]
];
fhir:Observation.specimen [
fhir:Reference.reference [ fhir:value "urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d" ]
];
fhir:Observation.derivedFrom [
fhir:index 0;
fhir:Reference.reference [ fhir:value "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d" ]
];
fhir:Observation.component [
fhir:index 0;
fhir:Observation.component.code [
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fhir:index 0;
a loinc:51961-1;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "51961-1" ] ] ];
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fhir:CodeableConcept.coding [
fhir:index 0;
a loinc:LA6677-4;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "LA6677-4" ];
fhir:Coding.display [ fhir:value "Responsive" ] ] ]
], [
fhir:index 1;
fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0;
a loinc:93044-6;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "93044-6" ];
fhir:Coding.display [ fhir:value "Level of Evidence" ] ] ];
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0;
a loinc:LA30200-2;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "LA30200-2" ];
fhir:Coding.display [ fhir:value "Very strong evidence pathogenic" ] ] ]
], [
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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 "associated-cancer" ] ] ];
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.text [ fhir:value "Polycythemia vera (PV)" ] ]
], [
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fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0;
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fhir:Coding.system [ fhir:value "http://loinc.org" ];
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fhir:Coding.display [ fhir:value "Medication assessed" ] ] ];
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.text [ fhir:value "AT9283" ] ]
].
<urn:uuid:05713d1c-0df5-46d5-a5a9-2085eef56c20> a fhir:Observation;
fhir:Resource.meta [
fhir:Meta.profile [
fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication";
fhir:index 0;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication> ]
];
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p></p><p><b>category</b>: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes therapeutic-implication}\">Therapeutic Implication</span></p><p><b>subject</b>: <a href=\"#urnuuidd0b4affa-91d6-46d1-af01-b30d9f16ef6d\">See above (Patient/null)</a></p><p><b>performer</b>: <a href=\"#urnuuida48256f8-db37-44e0-a0f6-d7af16c7c9ef\">See above (Practitioner/null)</a></p><p><b>method</b>: <span title=\"Codes: {http://loinc.org LA26811-2}\">Computational analysis</span></p><p><b>specimen</b>: <a href=\"#urnuuida5d6a6a9-4859-480e-85b2-56974fef3b9d\">See above (Specimen/null)</a></p><p><b>derivedFrom</b>: <a href=\"#urnuuid16fdd5fc-e665-48af-99e4-48d603f3e12d\">See above (Observation/null)</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 51961-1}\">Genetic variation's effect on drug efficacy</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA6677-4}\">Responsive</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 93044-6}\">Level of Evidence</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA30200-2}\">Very strong evidence pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes associated-cancer}\">associated-cancer</span></p><p><b>value</b>: <span title=\"Codes: \">Polycythemia vera (PV)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 51963-7}\">Medication assessed</span></p><p><b>value</b>: <span title=\"Codes: \">SNX-5422</span></p></blockquote></div>"
];
fhir:Observation.status [ fhir:value "final"];
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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:Coding.display [ fhir:value "Therapeutic Implication" ] ]
];
fhir:Observation.subject [
fhir:Reference.reference [ fhir:value "urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d" ]
];
fhir:Observation.performer [
fhir:index 0;
fhir:Reference.reference [ fhir:value "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef" ]
];
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fhir:CodeableConcept.coding [
fhir:index 0;
a loinc:LA26811-2;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "LA26811-2" ];
fhir:Coding.display [ fhir:value "Computational analysis" ] ]
];
fhir:Observation.specimen [
fhir:Reference.reference [ fhir:value "urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d" ]
];
fhir:Observation.derivedFrom [
fhir:index 0;
fhir:Reference.reference [ fhir:value "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d" ]
];
fhir:Observation.component [
fhir:index 0;
fhir:Observation.component.code [
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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:LA6677-4;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "LA6677-4" ];
fhir:Coding.display [ fhir:value "Responsive" ] ] ]
], [
fhir:index 1;
fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0;
a loinc:93044-6;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "93044-6" ];
fhir:Coding.display [ fhir:value "Level of Evidence" ] ] ];
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.coding [
fhir:index 0;
a loinc:LA30200-2;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "LA30200-2" ];
fhir:Coding.display [ fhir:value "Very strong evidence pathogenic" ] ] ]
], [
fhir:index 2;
fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0;
fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes" ];
fhir:Coding.code [ fhir:value "associated-cancer" ] ] ];
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.text [ fhir:value "Polycythemia vera (PV)" ] ]
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fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0;
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fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "51963-7" ];
fhir:Coding.display [ fhir:value "Medication assessed" ] ] ];
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.text [ fhir:value "SNX-5422" ] ]
].
<urn:uuid:294f1401-e2eb-4df1-b6d2-09e1b7a6eca4> a fhir:Observation;
fhir:Resource.meta [
fhir:Meta.profile [
fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication";
fhir:index 0;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication> ]
];
fhir:DomainResource.text [
fhir:Narrative.status [ fhir:value "generated" ];
fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p></p><p><b>category</b>: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes therapeutic-implication}\">Therapeutic Implication</span></p><p><b>subject</b>: <a href=\"#urnuuidd0b4affa-91d6-46d1-af01-b30d9f16ef6d\">See above (Patient/null)</a></p><p><b>performer</b>: <a href=\"#urnuuida48256f8-db37-44e0-a0f6-d7af16c7c9ef\">See above (Practitioner/null)</a></p><p><b>method</b>: <span title=\"Codes: {http://loinc.org LA26811-2}\">Computational analysis</span></p><p><b>specimen</b>: <a href=\"#urnuuida5d6a6a9-4859-480e-85b2-56974fef3b9d\">See above (Specimen/null)</a></p><p><b>derivedFrom</b>: <a href=\"#urnuuid16fdd5fc-e665-48af-99e4-48d603f3e12d\">See above (Observation/null)</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 51961-1}\">Genetic variation's effect on drug efficacy</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA6677-4}\">Responsive</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 93044-6}\">Level of Evidence</span></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA30200-2}\">Very strong evidence pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes associated-cancer}\">associated-cancer</span></p><p><b>value</b>: <span title=\"Codes: \">Polycythemia vera (PV)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 51963-7}\">Medication assessed</span></p><p><b>value</b>: <span title=\"Codes: \">TG02</span></p></blockquote></div>"
];
fhir:Observation.status [ fhir:value "final"];
fhir:Observation.category [
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fhir:CodeableConcept.coding [
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fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/observation-category" ];
fhir:Coding.code [ fhir:value "laboratory" ] ]
];
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fhir:index 0;
fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes" ];
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fhir:Coding.display [ fhir:value "Therapeutic Implication" ] ]
];
fhir:Observation.subject [
fhir:Reference.reference [ fhir:value "urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d" ]
];
fhir:Observation.performer [
fhir:index 0;
fhir:Reference.reference [ fhir:value "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef" ]
];
fhir:Observation.method [
fhir:CodeableConcept.coding [
fhir:index 0;
a loinc:LA26811-2;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "LA26811-2" ];
fhir:Coding.display [ fhir:value "Computational analysis" ] ]
];
fhir:Observation.specimen [
fhir:Reference.reference [ fhir:value "urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d" ]
];
fhir:Observation.derivedFrom [
fhir:index 0;
fhir:Reference.reference [ fhir:value "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d" ]
];
fhir:Observation.component [
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a loinc:51961-1;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
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fhir:CodeableConcept.coding [
fhir:index 0;
a loinc:LA6677-4;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "LA6677-4" ];
fhir:Coding.display [ fhir:value "Responsive" ] ] ]
], [
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fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0;
a loinc:93044-6;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
fhir:Coding.code [ fhir:value "93044-6" ];
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fhir:CodeableConcept.coding [
fhir:index 0;
a loinc:LA30200-2;
fhir:Coding.system [ fhir:value "http://loinc.org" ];
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fhir:Coding.display [ fhir:value "Very strong evidence pathogenic" ] ] ]
], [
fhir:index 2;
fhir:Observation.component.code [
fhir:CodeableConcept.coding [
fhir:index 0;
fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes" ];
fhir:Coding.code [ fhir:value "associated-cancer" ] ] ];
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.text [ fhir:value "Polycythemia vera (PV)" ] ]
], [
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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:Coding.display [ fhir:value "Medication assessed" ] ] ];
fhir:Observation.component.valueCodeableConcept [
fhir:CodeableConcept.text [ fhir:value "TG02" ] ]
].
<urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12f> a fhir:Observation;
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\"><p><b>Generated Narrative</b></p><p></p><p><b>category</b>: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes grouper}\">grouper</span></p><p><b>hasMember</b>: </p><ul><li><a href=\"#urnuuid16fdd5fc-e665-48af-99e4-48d603f3e12d\">SNV analysis for JAK2 variant. Generated Summary: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>; <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span>; <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span>; <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></a></li><li><a href=\"#urnuuid772de7d7-e1bd-4183-bdb5-cea8eda317cd\">SNV analysis for KDR variant. Generated Summary: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>; <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span>; <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span>; <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></a></li><li><a href=\"#urnuuidb33eb7ec-d83e-49d2-b0f3-729d024ebe01\">SNV analysis for ERBB4 variant. Generated Summary: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>; <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span>; <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span>; <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></a></li><li><a href=\"#urnuuid40e85eda-4d31-4bd2-a5a0-c39d63f9824f\">TMB value analysis. Generated Summary: <span title=\"Codes: \">Tumor Mutational Burden</span>; 25.0 somatic variants per megabase of sequenced DNA</a></li><li><a href=\"#urnuuid64b91716-6431-41bd-8fd4-7ac99bebdee9\">MSI status analysis. Generated Summary: <span title=\"Codes: \">MSI status</span>; value: High</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" ];
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fhir:Coding.display [ fhir:value "grouper" ] ]
];
fhir:Observation.hasMember [
fhir:index 0;
fhir:Reference.reference [ fhir:value "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d" ];
fhir:Reference.display [ fhir:value "SNV analysis for JAK2 variant" ]
], [
fhir:index 1;
fhir:Reference.reference [ fhir:value "urn:uuid:772de7d7-e1bd-4183-bdb5-cea8eda317cd" ];
fhir:Reference.display [ fhir:value "SNV analysis for KDR variant" ]
], [
fhir:index 2;
fhir:Reference.reference [ fhir:value "urn:uuid:b33eb7ec-d83e-49d2-b0f3-729d024ebe01" ];
fhir:Reference.display [ fhir:value "SNV analysis for ERBB4 variant" ]
], [
fhir:index 3;
fhir:Reference.reference [ fhir:value "urn:uuid:40e85eda-4d31-4bd2-a5a0-c39d63f9824f" ];
fhir:Reference.display [ fhir:value "TMB value analysis" ]
], [
fhir:index 4;
fhir:Reference.reference [ fhir:value "urn:uuid:64b91716-6431-41bd-8fd4-7ac99bebdee9" ];
fhir:Reference.display [ fhir:value "MSI status analysis" ]
].
<urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12e> a fhir:Observation;
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\"><p><b>Generated Narrative</b></p><p></p><p><b>category</b>: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes grouper}\">grouper</span></p><p><b>hasMember</b>: </p><ul><li><a href=\"#urnuuid1bf9642d-fd1c-4819-8c5d-44fae4bad524\">Therapy match result 1. Generated Summary: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>; <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes therapeutic-implication}\">Therapeutic Implication</span>; <span title=\"Codes: {http://loinc.org LA26811-2}\">Computational analysis</span></a></li><li><a href=\"#urnuuid1301943b-55db-4adf-8355-3635f7268a1b\">Therapy match result 2. Generated Summary: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>; <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes therapeutic-implication}\">Therapeutic Implication</span>; <span title=\"Codes: {http://loinc.org LA26811-2}\">Computational analysis</span></a></li><li><a href=\"#urnuuid05713d1c-0df5-46d5-a5a9-2085eef56c20\">Therapy match result 3. Generated Summary: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>; <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes therapeutic-implication}\">Therapeutic Implication</span>; <span title=\"Codes: {http://loinc.org LA26811-2}\">Computational analysis</span></a></li><li><a href=\"#urnuuid294f1401-e2eb-4df1-b6d2-09e1b7a6eca4\">Therapy match result 4. Generated Summary: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>; <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes therapeutic-implication}\">Therapeutic Implication</span>; <span title=\"Codes: {http://loinc.org LA26811-2}\">Computational analysis</span></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: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:Coding.display [ fhir:value "grouper" ] ]
];
fhir:Observation.hasMember [
fhir:index 0;
fhir:Reference.reference [ fhir:value "urn:uuid:1bf9642d-fd1c-4819-8c5d-44fae4bad524" ];
fhir:Reference.display [ fhir:value "Therapy match result 1" ]
], [
fhir:index 1;
fhir:Reference.reference [ fhir:value "urn:uuid:1301943b-55db-4adf-8355-3635f7268a1b" ];
fhir:Reference.display [ fhir:value "Therapy match result 2" ]
], [
fhir:index 2;
fhir:Reference.reference [ fhir:value "urn:uuid:05713d1c-0df5-46d5-a5a9-2085eef56c20" ];
fhir:Reference.display [ fhir:value "Therapy match result 3" ]
], [
fhir:index 3;
fhir:Reference.reference [ fhir:value "urn:uuid:294f1401-e2eb-4df1-b6d2-09e1b7a6eca4" ];
fhir:Reference.display [ fhir:value "Therapy match result 4" ]
].
<urn:uuid:ad7a499b-a43b-4cc8-bf46-cac62d9ecae5> a fhir:DiagnosticReport;
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\"><p><b>Generated Narrative</b></p><p><b>status</b>: final</p><p><b>category</b>: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 81247-9}\">Genetic analysis report</span></p><p><b>subject</b>: <a href=\"#urnuuidd0b4affa-91d6-46d1-af01-b30d9f16ef6d\">See above (Patient/null)</a></p><p><b>performer</b>: <a href=\"#urnuuida48256f8-db37-44e0-a0f6-d7af16c7c9ef\">See above (Practitioner/null)</a></p><p><b>specimen</b>: <a href=\"#urnuuida5d6a6a9-4859-480e-85b2-56974fef3b9d\">See above (Specimen/null)</a></p><p><b>result</b>: </p><ul><li><a href=\"#urnuuid16fdd5fc-e665-48af-99e4-48d603f3e12f\">Variants and other biomarker tests. Generated Summary: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>; <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes grouper}\">grouper</span></a></li><li><a href=\"#urnuuid16fdd5fc-e665-48af-99e4-48d603f3e12e\">Therapy Match Results. Generated Summary: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>; <span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes grouper}\">grouper</span></a></li></ul></div>"
];
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:Coding.display [ fhir:value "Master HL7 genetic variant reporting panel" ] ];
fhir:CodeableConcept.text [ fhir:value "Genetic analysis report" ]
];
fhir:DiagnosticReport.subject [
fhir:Reference.reference [ fhir:value "urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d" ]
];
fhir:DiagnosticReport.performer [
fhir:index 0;
fhir:Reference.reference [ fhir:value "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef" ]
];
fhir:DiagnosticReport.specimen [
fhir:index 0;
fhir:Reference.reference [ fhir:value "urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d" ]
];
fhir:DiagnosticReport.result [
fhir:index 0;
fhir:Reference.reference [ fhir:value "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12f" ];
fhir:Reference.display [ fhir:value "Variants and other biomarker tests" ]
], [
fhir:index 1;
fhir:Reference.reference [ fhir:value "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12e" ];
fhir:Reference.display [ fhir:value "Therapy Match Results" ]
].
# - ontology header ------------------------------------------------------------
a owl:Ontology;
owl:imports fhir:fhir.ttl.
IG © 2019+ HL7 International Clinical Genomics Work Group. Package hl7.fhir.uv.genomics-reporting#1.1.0 based on FHIR 4.0.1. Generated 2021-04-13
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