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: genomic-variant-jenny-m - XML Representation
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<Observation xmlns="http://hl7.org/fhir">
<id value="genomic-variant-jenny-m"/>
<meta>
<profile
value="http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant"/>
</meta>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative: Observation</b><a name="genomic-variant-jenny-m"> </a></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 Observation "genomic-variant-jenny-m" </p><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-mcode-genomic-variant.html">Genomic Variant Profile</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/5.0.0/CodeSystem-observation-category.html">Observation Category Codes</a>#laboratory)</span></p><p><b>code</b>: Genetic variant assessment <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://loinc.org/">LOINC</a>#69548-6)</span></p><p><b>subject</b>: <a href="Patient-cancer-patient-jenny-m.html">Patient/cancer-patient-jenny-m</a> " M"</p><p><b>effective</b>: 2018-03-15</p><p><b>value</b>: Present <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://loinc.org/">LOINC</a>#LA9633-4)</span></p><p><b>method</b>: Sequencing <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://loinc.org/">LOINC</a>#LA26398-0)</span></p><blockquote><p><b>component</b></p><p><b>code</b>: Gene studied [ID] <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://loinc.org/">LOINC</a>#48018-6)</span></p><p><b>value</b>: PALB2 <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="http://terminology.hl7.org/5.0.0/CodeSystem-v3-hgnc.html">HUGO Gene Nomenclature Committee Genes</a>#HGNC:26144)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Discrete genetic variant <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://loinc.org/">LOINC</a>#81252-9)</span></p><p><b>value</b>: NM_024675.3(PALB2):c.3549C>A (p.Tyr1183Ter) <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="http://terminology.hl7.org/5.0.0/CodeSystem-ClinVarV.html">ClinVar Variant ID</a>#128144)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Genomic DNA change (gHGVS) <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://loinc.org/">LOINC</a>#81290-9)</span></p><p><b>value</b>: NC_000016.10:g.23603471G>T <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="http://terminology.hl7.org/5.0.0/CodeSystem-v3-hgvs.html">Human Genome Variation Society nomenclature</a>#NC_000016.10:g.23603471G>T)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Genomic source class [Type] <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://loinc.org/">LOINC</a>#48002-0)</span></p><p><b>value</b>: Somatic <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://loinc.org/">LOINC</a>#LA6684-0)</span></p></blockquote></div>
</text>
<status value="final"/>
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value="http://terminology.hl7.org/CodeSystem/observation-category"/>
<code value="laboratory"/>
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<code>
<coding>
<system value="http://loinc.org"/>
<code value="69548-6"/>
<display value="Genetic variant assessment"/>
</coding>
</code>
<subject>
<reference value="Patient/cancer-patient-jenny-m"/>
</subject>
<effectiveDateTime value="2018-03-15"/>
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<system value="http://loinc.org"/>
<code value="LA9633-4"/>
<display value="Present"/>
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<system value="http://loinc.org"/>
<code value="LA26398-0"/>
<display value="Sequencing"/>
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<code value="48018-6"/>
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<system value="http://www.genenames.org"/>
<code value="HGNC:26144"/>
<display value="PALB2"/>
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<system value="http://loinc.org"/>
<code value="81252-9"/>
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<system value="http://www.ncbi.nlm.nih.gov/clinvar"/>
<code value="128144"/>
<display value="NM_024675.3(PALB2):c.3549C>A (p.Tyr1183Ter)"/>
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<coding>
<system value="http://loinc.org"/>
<code value="81290-9"/>
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<valueCodeableConcept>
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<system value="http://varnomen.hgvs.org"/>
<code value="NC_000016.10:g.23603471G>T"/>
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<component>
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<coding>
<system value="http://loinc.org"/>
<code value="48002-0"/>
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<coding>
<system value="http://loinc.org"/>
<code value="LA6684-0"/>
<display value="Somatic"/>
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</Observation>
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