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
<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 class="res-header-id"><b>Generated Narrative: Observation GenotypeExamplePharmVar</b></p><a name="GenotypeExamplePharmVar"> </a><a name="hcGenotypeExamplePharmVar"> </a><a name="GenotypeExamplePharmVar-en-US"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span>, <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</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">Adam B. Everyman Male, DoB: 1951-01-20 ( Medical Record Number: m123 (use: usual, ))</a></p><p><b>effective</b>: 2019-04-01</p><p><b>performer</b>: <a href="Organization-ExampleOrg.html">Organization some lab</a></p><p><b>value</b>: <span title="Codes:">CYP2D6*7.001 / CYP2D6*1.001</span></p><p><b>specimen</b>: <a href="Specimen-GenomicSpecimenExample01.html">Specimen: status = available; type = Tissue</a></p><p><b>derivedFrom</b>: </p><ul><li><a href="Observation-HaplotypeExamplePharmVar01.html">Observation Haplotype name</a></li><li><a href="Observation-HaplotypeExamplePharmVar02.html">Observation Haplotype name</a></li></ul><h3>Components</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style="display: none">*</td><td><span title="Codes:{http://loinc.org 48018-6}">Gene studied [ID]</span></td><td><span title="Codes:{http://www.genenames.org HGNC:2625}">CYP2D6</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>
<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="84413-4"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/CGPatientExample01"/>
</subject>
<effectiveDateTime value="2019-04-01"/>
<performer>🔗
<reference value="Organization/ExampleOrg"/>
</performer>
<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"/>
<code value="HGNC:2625"/>
<display value="CYP2D6"/>
</coding>
</valueCodeableConcept>
</component>
</Observation>