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

: Genomic Study Analysis TruRisk Panel v3

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<Procedure xmlns="http://hl7.org/fhir">
  <id value="mii-exa-molgen-genomic-study-analysis-trurisk-panel"/>
  <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-trurisk-panel</b></p><a name="de-mii-exa-molgen-genomic-study-analysis-trurisk-panel"> </a><a name="de-hcmii-exa-molgen-genomic-study-analysis-trurisk-panel"> </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-brca1.html">Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#specimen_03; status = available; type = Tissue specimen from breast (specimen); receivedTime = 2022-11-01</a></p><blockquote><p><b>Genomic Study Analysis Device</b></p><ul><li>device: <a href="Device-mii-exa-molgen-device-sequencer-nextseq.html">Device: status = active; manufacturer = Illumina</a></li></ul></blockquote><p><b>Genomic Study Analysis Method Type</b>: <span title="Codes:{http://loinc.org LA26398-0}">Sequencing</span></p><blockquote><p><b>Genomic Study Analysis Regions</b></p><ul><li>description: TruRisk Panel v3: Alle kodierenden Exons der Core-Gene für erblichen Brust- und Eierstockkrebs</li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:795}">ATM</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:1100}">BRCA1</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:952}">BARD1</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:1101}">BRCA2</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:20473}">BRIP1</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:1748}">CDH1</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:16627}">CHEK2</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:7127}">MLH1</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:7325}">MSH2</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:7329}">MSH6</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:26144}">PALB2</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:9122}">PMS2</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:9588}">PTEN</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:9820}">RAD51C</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:9823}">RAD51D</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:11998}">TP53</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-brca1.html">Elisa Schmidt-Huber (official) Female, DoB: 1973-03-12 ( 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-brca1"/>
    </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-sequencer-nextseq"/>
      </valueReference>
    </extension>
  </extension>
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             url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type">
    <valueCodeableConcept>
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        <code value="LA26398-0"/>
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  </extension>
  <extension
             url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions">
    <extension url="description">
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                   value="TruRisk Panel v3: Alle kodierenden Exons der Core-Gene für erblichen Brust- und Eierstockkrebs"/>
    </extension>
    <extension url="studied">
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    <extension url="studied">
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        <coding>
          <system value="http://www.genenames.org/geneId"/>
          <code value="HGNC:1100"/>
          <display value="BRCA1"/>
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      </valueCodeableConcept>
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    <extension url="studied">
      <valueCodeableConcept>
        <coding>
          <system value="http://www.genenames.org/geneId"/>
          <code value="HGNC:952"/>
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      </valueCodeableConcept>
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    <extension url="studied">
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        <coding>
          <system value="http://www.genenames.org/geneId"/>
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          <display value="BRCA2"/>
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    <extension url="studied">
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          <display value="BRIP1"/>
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    <extension url="studied">
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        <coding>
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          <code value="HGNC:1748"/>
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    <extension url="studied">
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        <coding>
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          <code value="HGNC:16627"/>
          <display value="CHEK2"/>
        </coding>
      </valueCodeableConcept>
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    <extension url="studied">
      <valueCodeableConcept>
        <coding>
          <system value="http://www.genenames.org/geneId"/>
          <code value="HGNC:7127"/>
          <display value="MLH1"/>
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    <extension url="studied">
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        <coding>
          <system value="http://www.genenames.org/geneId"/>
          <code value="HGNC:7325"/>
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    <extension url="studied">
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        <coding>
          <system value="http://www.genenames.org/geneId"/>
          <code value="HGNC:7329"/>
          <display value="MSH6"/>
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    <extension url="studied">
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          <display value="PALB2"/>
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    <extension url="studied">
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        <coding>
          <system value="http://www.genenames.org/geneId"/>
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          <display value="PMS2"/>
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    <extension url="studied">
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        <coding>
          <system value="http://www.genenames.org/geneId"/>
          <code value="HGNC:9588"/>
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    <extension url="studied">
      <valueCodeableConcept>
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          <system value="http://www.genenames.org/geneId"/>
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    <extension url="studied">
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          <system value="http://www.genenames.org/geneId"/>
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    <extension url="studied">
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        <coding>
          <system value="http://www.genenames.org/geneId"/>
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          <display value="TP53"/>
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  <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-brca1"/>
  </subject>
</Procedure>