TSO500 Library Preparation - XML Representation - MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht v2027.0.0-ballot.1

MII Implementierungsleitfaden Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 - Germany
MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht - Downloaded Version 2027.0.0-ballot.1 See the Directory of published versions
: TSO500 Library Preparation

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<Procedure xmlns="http://hl7.org/fhir">
  <id value="mii-exa-molgen-genomic-study-analysis-tso500-libprep"/>
  <meta>
    <profile
             value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-pr-molgen-genomic-study-analysis"/>
    <profile
             value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genomic-study-analysis|2027.0.0-ballot.1"/>
  </meta>
  <language value="de"/>
  <text>
    <status value="extensions"/>
    <div xml:lang="de" lang="de"><hr/><p><b>German</b></p><hr/><p class="res-header-id"><b>Generated Narrative: Procedure mii-exa-molgen-genomic-study-analysis-tso500-libprep</b></p><a name="de-mii-exa-molgen-genomic-study-analysis-tso500-libprep"> </a><a name="de-hcmii-exa-molgen-genomic-study-analysis-tso500-libprep"> </a><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"/><p style="margin-bottom: 0px">Profiles: <a href="StructureDefinition-mii-pr-molgen-genomic-study-analysis.html">MII PR MolGen Genomic Study Analysis</a>, <a href="https://simplifier.net/resolve?scope=de.basisprofil.r4@1.6.0&amp;canonical=https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genomic-study-analysis|2027.0.0-ballot.1">https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genomic-study-analysis|2027.0.0-ballot.1</a></p></div><p><b>Genomic Study Analysis Specimen</b>: <a href="Specimen-mii-exa-molgen-specimen-ffpe-tumor.html">Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#specimen_tso500_ffpe_01; status = available; type = Formalin-fixed paraffin-embedded tissue specimen; receivedTime = 2024-05-16 09:20:00+0200</a></p><blockquote><p><b>Genomic Study Analysis Device</b></p><ul><li>device: <a href="Device-mii-exa-molgen-device-tso500-lot.html">Device: identifier = https://www.medizininformatik-initiative.de/fhir/sid/lab-devices#TSO500v2-LOT-20240518-A; status = active; manufacturer = Illumina Inc.; expirationDate = 2026-12-31; lotNumber = 20240518-A; modelNumber = 20130527; type = </a></li><li>function: <span title="Codes:{http://loinc.org LA26810-4}">DNA hybridization</span></li></ul></blockquote><p><b>Genomic Study Analysis Method Type</b>: <span title="Codes:{http://loinc.org LA26810-4}">DNA hybridization</span></p><blockquote><p><b>Genomic Study Analysis Regions</b></p><ul><li>description: TSO500 v2 Panel: 523 Gene für SNV/Indel, 59 für CNV, 23 für DNA-Rearrangements, 55 Gene für RNA-Fusionen/Splice-Varianten; integrierte Biomarker TMB/MSI/HRD. Unten repräsentatives, NSCLC-relevantes Subset; vollständige Genliste siehe DeviceDefinition mii-exa-molgen-devicedef-tso500</li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:3236}">EGFR</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:6407}">KRAS</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:1097}">BRAF</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:7989}">NRAS</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:427}">ALK</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:10261}">ROS1</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:7029}">MET</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:9967}">RET</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:11998}">TP53</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:8975}">PIK3CA</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:3430}">ERBB2</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:3689}">FGFR2</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:3690}">FGFR3</span></li></ul></blockquote><p><b>status</b>: Completed</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span></p><p><b>subject</b>: <a href="Patient-mii-exa-molgen-patient.html">Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Krankenaktennummer (use: usual, ))</a></p></div>
  </text>
  <extension
             url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-specimen">
    <valueReference>🔗 
      <reference value="Specimen/mii-exa-molgen-specimen-ffpe-tumor"/>
    </valueReference>
  </extension>
  <extension
             url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device">
    <extension url="device">
      <valueReference>🔗 
        <reference value="Device/mii-exa-molgen-device-tso500-lot"/>
      </valueReference>
    </extension>
    <extension url="function">
      <valueCodeableConcept>
        <coding>
          <system value="http://loinc.org"/>
          <code value="LA26810-4"/>
          <display value="DNA hybridization"/>
        </coding>
      </valueCodeableConcept>
    </extension>
  </extension>
  <extension
             url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type">
    <valueCodeableConcept>
      <coding>
        <system value="http://loinc.org"/>
        <code value="LA26810-4"/>
        <display value="DNA hybridization"/>
      </coding>
    </valueCodeableConcept>
  </extension>
  <extension
             url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions">
    <extension url="description">
      <valueString
                   value="TSO500 v2 Panel: 523 Gene für SNV/Indel, 59 für CNV, 23 für DNA-Rearrangements, 55 Gene für RNA-Fusionen/Splice-Varianten; integrierte Biomarker TMB/MSI/HRD. Unten repräsentatives, NSCLC-relevantes Subset; vollständige Genliste siehe DeviceDefinition mii-exa-molgen-devicedef-tso500"/>
    </extension>
    <extension url="studied">
      <valueCodeableConcept>
        <coding>
          <system value="http://www.genenames.org/geneId"/>
          <code value="HGNC:3236"/>
          <display value="EGFR"/>
        </coding>
      </valueCodeableConcept>
    </extension>
    <extension url="studied">
      <valueCodeableConcept>
        <coding>
          <system value="http://www.genenames.org/geneId"/>
          <code value="HGNC:6407"/>
          <display value="KRAS"/>
        </coding>
      </valueCodeableConcept>
    </extension>
    <extension url="studied">
      <valueCodeableConcept>
        <coding>
          <system value="http://www.genenames.org/geneId"/>
          <code value="HGNC:1097"/>
          <display value="BRAF"/>
        </coding>
      </valueCodeableConcept>
    </extension>
    <extension url="studied">
      <valueCodeableConcept>
        <coding>
          <system value="http://www.genenames.org/geneId"/>
          <code value="HGNC:7989"/>
          <display value="NRAS"/>
        </coding>
      </valueCodeableConcept>
    </extension>
    <extension url="studied">
      <valueCodeableConcept>
        <coding>
          <system value="http://www.genenames.org/geneId"/>
          <code value="HGNC:427"/>
          <display value="ALK"/>
        </coding>
      </valueCodeableConcept>
    </extension>
    <extension url="studied">
      <valueCodeableConcept>
        <coding>
          <system value="http://www.genenames.org/geneId"/>
          <code value="HGNC:10261"/>
          <display value="ROS1"/>
        </coding>
      </valueCodeableConcept>
    </extension>
    <extension url="studied">
      <valueCodeableConcept>
        <coding>
          <system value="http://www.genenames.org/geneId"/>
          <code value="HGNC:7029"/>
          <display value="MET"/>
        </coding>
      </valueCodeableConcept>
    </extension>
    <extension url="studied">
      <valueCodeableConcept>
        <coding>
          <system value="http://www.genenames.org/geneId"/>
          <code value="HGNC:9967"/>
          <display value="RET"/>
        </coding>
      </valueCodeableConcept>
    </extension>
    <extension url="studied">
      <valueCodeableConcept>
        <coding>
          <system value="http://www.genenames.org/geneId"/>
          <code value="HGNC:11998"/>
          <display value="TP53"/>
        </coding>
      </valueCodeableConcept>
    </extension>
    <extension url="studied">
      <valueCodeableConcept>
        <coding>
          <system value="http://www.genenames.org/geneId"/>
          <code value="HGNC:8975"/>
          <display value="PIK3CA"/>
        </coding>
      </valueCodeableConcept>
    </extension>
    <extension url="studied">
      <valueCodeableConcept>
        <coding>
          <system value="http://www.genenames.org/geneId"/>
          <code value="HGNC:3430"/>
          <display value="ERBB2"/>
        </coding>
      </valueCodeableConcept>
    </extension>
    <extension url="studied">
      <valueCodeableConcept>
        <coding>
          <system value="http://www.genenames.org/geneId"/>
          <code value="HGNC:3689"/>
          <display value="FGFR2"/>
        </coding>
      </valueCodeableConcept>
    </extension>
    <extension url="studied">
      <valueCodeableConcept>
        <coding>
          <system value="http://www.genenames.org/geneId"/>
          <code value="HGNC:3690"/>
          <display value="FGFR3"/>
        </coding>
      </valueCodeableConcept>
    </extension>
  </extension>
  <status value="completed"/>
  <category>
    <coding>
      <system
              value="http://terminology.hl7.org/CodeSystem/observation-category"/>
      <code value="laboratory"/>
    </coding>
  </category>
  <subject>🔗 
    <reference value="Patient/mii-exa-molgen-patient"/>
  </subject>
</Procedure>
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