This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions
<Observation xmlns="http://hl7.org/fhir">
<id value="GenotypeExamplePharmVar"/>
<meta>
<profile
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"/>
</meta>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative</b></p><div style="display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><p style="margin-bottom: 0px">Resource "GenotypeExamplePharmVar" </p><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-genotype.html">Genotype</a></p></div><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="http://terminology.hl7.org/3.1.0/CodeSystem-observation-category.html">Observation Category Codes</a>#laboratory)</span></p><p><b>code</b>: Genotype display name <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://loinc.org/">LOINC</a>#84413-4)</span></p><p><b>subject</b>: <a href="Patient-CGPatientExample01.html">Patient/CGPatientExample01</a> " EVERYMAN"</p><p><b>effective</b>: 2021</p><p><b>value</b>: CYP2D6*7.001 / CYP2D6*1.001 <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> ()</span></p><p><b>specimen</b>: <a href="Specimen-GenomicSpecimenExample01.html">Specimen/GenomicSpecimenExample01</a></p><p><b>derivedFrom</b>: </p><ul><li><a href="Observation-HaplotypeExamplePharmVar01.html">Observation/HaplotypeExamplePharmVar01</a></li><li><a href="Observation-HaplotypeExamplePharmVar02.html">Observation/HaplotypeExamplePharmVar02</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>Gene studied [ID] <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://loinc.org/">LOINC</a>#48018-6)</span></td><td>CYP2D6 <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (geneId#HGNC:2625)</span></td></tr></table></div>
</text>
<status value="final"/>
<category>
<coding>
<system value="http://terminology.hl7.org/CodeSystem/observation-category"/>
<code value="laboratory"/>
</coding>
</category>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="84413-4"/>
</coding>
</code>
<subject>
<reference value="Patient/CGPatientExample01"/>
</subject>
<effectiveDateTime value="2021"/>
<valueCodeableConcept>
<text value="CYP2D6*7.001 / CYP2D6*1.001"/>
</valueCodeableConcept>
<specimen>
<reference value="Specimen/GenomicSpecimenExample01"/>
</specimen>
<derivedFrom>
<reference value="Observation/HaplotypeExamplePharmVar01"/>
</derivedFrom>
<derivedFrom>
<reference value="Observation/HaplotypeExamplePharmVar02"/>
</derivedFrom>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48018-6"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://www.genenames.org/geneId"/>
<code value="HGNC:2625"/>
<display value="CYP2D6"/>
</coding>
</valueCodeableConcept>
</component>
</Observation>