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
<Observation xmlns="http://hl7.org/fhir">
<id value="Pgx-geno-1001"/>
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<profile
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"/>
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<status value="generated"/>
<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 84413-4}">Genotype display name</span></p><p><b>subject</b>: <a href="Patient-CGPatientExample01.html">Generated Summary: Medical Record Number: m123 (USUAL); Adam B. Everyman ; gender: male; birthDate: 1951-01-20</a></p><p><b>effective</b>: 2020-01-01</p><p><b>value</b>: <span title="Codes: {http://www.ncbi.nlm.nih.gov/clinvar 638797}">CYP2C19*2/*2</span></p><p><b>specimen</b>: <a href="Specimen-GenomicSpecimenExample01.html">Generated Summary: status: available; <span title="Codes: {http://terminology.hl7.org/CodeSystem/v2-0487 TISS}">Tissue</span></a></p><p><b>derivedFrom</b>: </p><ul><li><a href="Observation-Pgx-var-1011.html">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>; effective: 2020-01-01; <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="Observation-Pgx-var-1012.html">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>; effective: 2020-01-01; <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="Observation-Pgx-var-1013.html">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>; effective: 2020-01-01; <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="Observation-Pgx-var-1014.html">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>; effective: 2020-01-01; <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="Observation-Pgx-var-1015.html">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>; effective: 2020-01-01; <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="Observation-Pgx-var-1016.html">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>; effective: 2020-01-01; <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="Observation-Pgx-var-1017.html">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>; effective: 2020-01-01; <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="Observation-Pgx-var-1018.html">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>; effective: 2020-01-01; <span title="Codes: {http://loinc.org LA9633-4}">Present</span>; <span title="Codes: {http://loinc.org LA26398-0}">Sequencing</span></a></li></ul><h3>Components</h3><table class="grid"><tr><td>-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td>*</td><td><span title="Codes: {http://loinc.org 48018-6}">Gene studied [ID]</span></td><td><span title="Codes: {http://www.genenames.org/geneId HGNC:2621}">CYP2C19</span></td></tr></table></div>
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<reference value="Patient/CGPatientExample01"/>
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<system value="http://www.ncbi.nlm.nih.gov/clinvar"/>
<code value="638797"/>
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<specimen>
<reference value="Specimen/GenomicSpecimenExample01"/>
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<derivedFrom>
<reference value="Observation/Pgx-var-1011"/>
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<derivedFrom>
<reference value="Observation/Pgx-var-1012"/>
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<derivedFrom>
<reference value="Observation/Pgx-var-1013"/>
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<derivedFrom>
<reference value="Observation/Pgx-var-1014"/>
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<derivedFrom>
<reference value="Observation/Pgx-var-1015"/>
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<derivedFrom>
<reference value="Observation/Pgx-var-1016"/>
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<derivedFrom>
<reference value="Observation/Pgx-var-1017"/>
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<derivedFrom>
<reference value="Observation/Pgx-var-1018"/>
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<system value="http://loinc.org"/>
<code value="48018-6"/>
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<coding>
<system value="http://www.genenames.org/geneId"/>
<code value="HGNC:2621"/>
<display value="CYP2C19"/>
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