This page is part of the HL7 FHIR Implementation Guide: minimal Common Oncology Data Elements (mCODE) Release 1 - US Realm | STU1 (v4.0.0-ballot: STU4 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 3.0.0. For a full list of available versions, see the Directory of published versions
<Observation xmlns="http://hl7.org/fhir">
<id value="gx-genomic-variant-somatic-mycn"/>
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<profile
value="http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant"/>
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<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative: Observation</b><a name="gx-genomic-variant-somatic-mycn"> </a><a name="hcgx-genomic-variant-somatic-mycn"> </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 "gx-genomic-variant-somatic-mycn" </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/5.3.0/CodeSystem-observation-category.html">Observation Category Codes</a>#laboratory)</span></p><p><b>code</b>: Genetic var assess <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-gx-cancer-patient-adam-anyperson.html">Patient/gx-cancer-patient-adam-anyperson</a> " ANYPERSON"</p><p><b>effective</b>: 2019-04-01</p><p><b>performer</b>: <a href="Practitioner-us-core-practitioner-owen-oncologist.html">Practitioner/us-core-practitioner-owen-oncologist</a> " ONCOLOGIST"</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>: MYCN <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="http://terminology.hl7.org/5.3.0/CodeSystem-v3-hgnc.html">HUGO Gene Nomenclature Committee Genes</a>#HGNC:7559; gene#4613)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Genomic source class <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><blockquote><p><b>component</b></p><p><b>code</b>: Molecular Consequence <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="http://hl7.org/fhir/uv/genomics-reporting/STU2/CodeSystem-tbd-codes-cs.html">To Be Determined Codes</a>#molecular-consequence)</span></p><p><b>value</b>: copy_number_gain <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (#SO:0001742)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Human ref seq assembly+build <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://loinc.org/">LOINC</a>#62374-4)</span></p><p><b>value</b>: GRCh37 <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://loinc.org/">LOINC</a>#LA14029-5)</span></p></blockquote></div>
</text>
<status value="final"/>
<category>
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<code value="laboratory"/>
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<coding>
<system value="http://loinc.org"/>
<code value="69548-6"/>
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<subject>🔗
<reference value="Patient/gx-cancer-patient-adam-anyperson"/>
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<effectiveDateTime value="2019-04-01"/>
<performer>🔗
<reference value="Practitioner/us-core-practitioner-owen-oncologist"/>
</performer>
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<coding>
<system value="http://loinc.org"/>
<code value="LA9633-4"/>
<display value="Present"/>
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<method>
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<system value="http://loinc.org"/>
<code value="LA26398-0"/>
<display value="Sequencing"/>
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<system value="http://loinc.org"/>
<code value="48018-6"/>
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<valueCodeableConcept>
<coding>
<system value="http://www.genenames.org"/>
<code value="HGNC:7559"/>
<display value="MYCN"/>
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<coding>
<system value="https://www.ncbi.nlm.nih.gov/gene"/>
<code value="4613"/>
<display value="MYCN"/>
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<component>
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<coding>
<system value="http://loinc.org"/>
<code value="48002-0"/>
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<valueCodeableConcept>
<coding>
<system value="http://loinc.org"/>
<code value="LA6684-0"/>
<display value="Somatic"/>
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<component>
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<coding>
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<code value="molecular-consequence"/>
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<valueCodeableConcept>
<coding>
<system value="http://www.sequenceontology.org/"/>
<code value="SO:0001742"/>
<display value="copy_number_gain"/>
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<coding>
<system value="http://loinc.org"/>
<code value="62374-4"/>
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<coding>
<system value="http://loinc.org"/>
<code value="LA14029-5"/>
<display value="GRCh37"/>
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