Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions
<DiagnosticReport xmlns="http://hl7.org/fhir">
<id value="GenomicReportExample01"/>
<meta>
<profile
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report"/>
</meta>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: DiagnosticReport GenomicReportExample01</b></p><a name="GenomicReportExample01"> </a><a name="hcGenomicReportExample01"> </a><a name="GenomicReportExample01-en-US"> </a><h2><span title="Codes:{http://loinc.org 51969-4}, {http://loinc.org 57979-7}">HLA-B*15:02 [Presence]</span> (<span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span>) </h2><table class="grid"><tr><td>Subject</td><td>Adam B. Everyman Male, DoB: 1951-01-20 ( Medical Record Number: m123 (use: usual, ))</td></tr><tr><td>When For</td><td>2016</td></tr><tr><td>Reported</td><td>2018-03-06 00:00:00-0500</td></tr><tr><td>Performer</td><td> <a href="Organization-ExampleOrg.html">Organization some lab</a></td></tr></table><p><b>Report Details</b></p><table class="grid"><tr><td><b>Code</b></td><td><b>Value</b></td><td><b>Flags</b></td><td><b>When For</b></td></tr><tr><td><a href="Observation-TherapeuticImplicationExample1.html"><span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}">Therapeutic Implication</span></a></td><td/><td>Final</td><td>2019-04-01</td></tr><tr><td><a href="Observation-GenotypeExample1.html"><span title="Codes:{http://loinc.org 84413-4}">Genotype display name</span></a></td><td><span title="Codes:{http://www.ncbi.nlm.nih.gov/clinvar 14909}">HLA-B*15:02</span></td><td>Final</td><td>2019-04-01</td></tr></table><p>Patient is positive for high risk allele HLA-B*15:02 and should not be treated with CBZ.</p><p><b>Coded Conclusions:</b></p><ul><li><span title="Codes:{http://loinc.org LA6576-8}">Positive</span></li></ul></div>
</text>
<extension
url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action">
<valueReference>🔗
<reference value="Task/MedicationRecommendationExample1"/>
</valueReference>
</extension>
<extension
url="http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact">
<valueRelatedArtifact>
<type value="citation"/>
<url
value="https://cpicpgx.org/guidelines/guideline-for-clopidogrel-and-cyp2c19)"/>
</valueRelatedArtifact>
</extension>
<basedOn>🔗
<reference value="ServiceRequest/GenomicServiceRequestExample01"/>
</basedOn>
<status value="final"/>
<category>
<coding>
<system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
<code value="GE"/>
</coding>
</category>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="51969-4"/>
</coding>
<coding>
<system value="http://loinc.org"/>
<code value="57979-7"/>
<display value="HLA-B*15:02 [Presence]"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/CGPatientExample01"/>
</subject>
<effectiveDateTime value="2016"/>
<issued value="2018-03-06T00:00:00-05:00"/>
<performer>🔗
<reference value="Organization/ExampleOrg"/>
</performer>
<result>🔗
<reference value="Observation/TherapeuticImplicationExample1"/>
<display value="impact for high risk allele"/>
</result>
<result>🔗
<reference value="Observation/GenotypeExample1"/>
</result>
<conclusion
value="Patient is positive for high risk allele HLA-B*15:02 and should not be treated with CBZ."/>
<conclusionCode>
<coding>
<system value="http://loinc.org"/>
<code value="LA6576-8"/>
<display value="Positive"/>
</coding>
</conclusionCode>
</DiagnosticReport>