MII Implementierungsleitfaden Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 - Germany

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: Genomic Study Analysis Cornelia de Lange Panel

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<Procedure xmlns="http://hl7.org/fhir">
  <id value="mii-exa-molgen-genomic-study-analysis-cornelia-de-lange"/>
  <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-cornelia-de-lange</b></p><a name="de-mii-exa-molgen-genomic-study-analysis-cornelia-de-lange"> </a><a name="de-hcmii-exa-molgen-genomic-study-analysis-cornelia-de-lange"> </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-2.html">Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#specimen_02; status = available; type = Blood specimen with edetic acid (specimen); receivedTime = 2021-11-24</a></p><blockquote><p><b>Genomic Study Analysis Device</b></p><ul><li>device: <a href="Device-mii-exa-molgen-device-sequencer-2.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: Cornelia de Lange Panel: Alle kodierenden Exons der Gene NIPBL, HDAC8, RAD21, SMC1A, SMC3, TP63</li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:28862}">NIPBL</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:13315}">HDAC8</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:9811}">RAD21</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:11111}">SMC1A</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:2468}">SMC3</span></li><li>studied: <span title="Codes:{http://www.genenames.org/geneId HGNC:15979}">TP63</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-2.html">Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( 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-2"/>
    </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-2"/>
      </valueReference>
    </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="LA26398-0"/>
        <display value="Sequencing"/>
      </coding>
    </valueCodeableConcept>
  </extension>
  <extension
             url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions">
    <extension url="description">
      <valueString
                   value="Cornelia de Lange Panel: Alle kodierenden Exons der Gene NIPBL, HDAC8, RAD21, SMC1A, SMC3, TP63"/>
    </extension>
    <extension url="studied">
      <valueCodeableConcept>
        <coding>
          <system value="http://www.genenames.org/geneId"/>
          <code value="HGNC:28862"/>
          <display value="NIPBL"/>
        </coding>
      </valueCodeableConcept>
    </extension>
    <extension url="studied">
      <valueCodeableConcept>
        <coding>
          <system value="http://www.genenames.org/geneId"/>
          <code value="HGNC:13315"/>
          <display value="HDAC8"/>
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      </valueCodeableConcept>
    </extension>
    <extension url="studied">
      <valueCodeableConcept>
        <coding>
          <system value="http://www.genenames.org/geneId"/>
          <code value="HGNC:9811"/>
          <display value="RAD21"/>
        </coding>
      </valueCodeableConcept>
    </extension>
    <extension url="studied">
      <valueCodeableConcept>
        <coding>
          <system value="http://www.genenames.org/geneId"/>
          <code value="HGNC:11111"/>
          <display value="SMC1A"/>
        </coding>
      </valueCodeableConcept>
    </extension>
    <extension url="studied">
      <valueCodeableConcept>
        <coding>
          <system value="http://www.genenames.org/geneId"/>
          <code value="HGNC:2468"/>
          <display value="SMC3"/>
        </coding>
      </valueCodeableConcept>
    </extension>
    <extension url="studied">
      <valueCodeableConcept>
        <coding>
          <system value="http://www.genenames.org/geneId"/>
          <code value="HGNC:15979"/>
          <display value="TP63"/>
        </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-2"/>
  </subject>
</Procedure>