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

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: mii-exa-molgen-variante-srcc-ctnna1

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<Observation xmlns="http://hl7.org/fhir">
  <id value="mii-exa-molgen-variante-srcc-ctnna1"/>
  <meta>
    <profile
             value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante|2027.0.0-ballot.1"/>
    <profile
             value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant|3.0.0"/>
  </meta>
  <language value="en"/>
  <text>
    <status value="generated"/>
    <div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-molgen-variante-srcc-ctnna1</b></p><a name="mii-exa-molgen-variante-srcc-ctnna1"> </a><a name="hcmii-exa-molgen-variante-srcc-ctnna1"> </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-variante.html">MII PR MolGen Variante</a> version: 2027.0.0-ballot.1, <a href="http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-variant.html">Variant</a> version: 3.0.0</p></div><p><b>basedOn</b>: <a href="ServiceRequest-mii-exa-molgen-anforderung-srcc.html">ServiceRequest Molecular genetic test (procedure)</a></p><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span>, <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span></p><p><b>code</b>: <span title="Codes:{http://loinc.org 69548-6}">Genetic variant assessment</span></p><p><b>subject</b>: <a href="Patient-mii-exa-molgen-patient-srcc.html">Anonymous Patient Male, DoB: 1986-01 ( pseudonymized (use: usual, ))</a></p><p><b>effective</b>: 2022-11-30</p><p><b>value</b>: <span title="Codes:{http://loinc.org LA9633-4}">Present</span></p><p><b>method</b>: <span title="Codes:{http://loinc.org LA26398-0}">Sequencing</span></p><p><b>specimen</b>: <a href="Specimen-mii-exa-molgen-specimen-srcc.html">Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#00070024; status = available; type = Blood specimen with edetic acid (specimen); receivedTime = 2022-11-30</a></p><p><b>device</b>: <a href="Device-mii-exa-molgen-device-sequencer.html">Device: status = active; manufacturer = Illumina</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48018-6}">Gene studied [ID]</span></p><p><b>value</b>: <span title="Codes:{http://www.genenames.org/geneId HGNC:2509}">CTNNA1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 51958-7}">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title="Codes:{http://www.ncbi.nlm.nih.gov/refseq NM_001903.5}">NM_001903.5</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48004-6}">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title="Codes:{http://varnomen.hgvs.org NM_001903.5:c.1030del}">NM_001903.5:c.1030del</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81290-9}">Genomic DNA change (gHGVS)</span></p><p><b>value</b>: <span title="Codes:{http://varnomen.hgvs.org NC_000005.9:g.138163372del}">NC_000005.9:g.138163372del</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48013-7}">Genomic reference sequence [ID]</span></p><p><b>value</b>: <span title="Codes:{http://www.ncbi.nlm.nih.gov/refseq NC_000005.9}">NC_000005.9</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48005-3}">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title="Codes:{http://varnomen.hgvs.org p.(Leu344CysfsTer25)}">p.(Leu344CysfsTer25)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 53034-5}">Allelic state</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA6706-1}">Heterozygous</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48019-4}">DNA change type</span></p><p><b>value</b>: <span title="Codes:{http://sequenceontology.org SO:0000159}">Deletion</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48001-2}">Cytogenetic (chromosome) location</span></p><p><b>value</b>: <span title="Codes:{urn:oid:2.16.840.1.113883.6.335 5q31.2}">5q31.2</span></p></blockquote></div>
  </text>
  <basedOn>🔗 
    <reference value="ServiceRequest/mii-exa-molgen-anforderung-srcc"/>
  </basedOn>
  <status value="final"/>
  <category>
    <coding>
      <system
              value="http://terminology.hl7.org/CodeSystem/observation-category"/>
      <code value="laboratory"/>
      <display value="Laboratory"/>
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  <category>
    <coding>
      <system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
      <code value="GE"/>
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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/mii-exa-molgen-patient-srcc"/>
  </subject>
  <effectiveDateTime value="2022-11-30"/>
  <valueCodeableConcept>
    <coding>
      <system value="http://loinc.org"/>
      <code value="LA9633-4"/>
      <display value="Present"/>
    </coding>
  </valueCodeableConcept>
  <method>
    <coding>
      <system value="http://loinc.org"/>
      <code value="LA26398-0"/>
      <display value="Sequencing"/>
    </coding>
  </method>
  <specimen>🔗 
    <reference value="Specimen/mii-exa-molgen-specimen-srcc"/>
  </specimen>
  <device>🔗 
    <reference value="Device/mii-exa-molgen-device-sequencer"/>
  </device>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48018-6"/>
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    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://www.genenames.org/geneId"/>
        <code value="HGNC:2509"/>
        <display value="CTNNA1"/>
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    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="51958-7"/>
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    <valueCodeableConcept>
      <coding>
        <system value="http://www.ncbi.nlm.nih.gov/refseq"/>
        <code value="NM_001903.5"/>
      </coding>
    </valueCodeableConcept>
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    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48004-6"/>
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    <valueCodeableConcept>
      <coding>
        <system value="http://varnomen.hgvs.org"/>
        <code value="NM_001903.5:c.1030del"/>
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    </valueCodeableConcept>
  </component>
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    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="81290-9"/>
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    <valueCodeableConcept>
      <coding>
        <system value="http://varnomen.hgvs.org"/>
        <code value="NC_000005.9:g.138163372del"/>
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    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48013-7"/>
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    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://www.ncbi.nlm.nih.gov/refseq"/>
        <code value="NC_000005.9"/>
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    </valueCodeableConcept>
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  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48005-3"/>
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    <valueCodeableConcept>
      <coding>
        <system value="http://varnomen.hgvs.org"/>
        <code value="p.(Leu344CysfsTer25)"/>
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    </valueCodeableConcept>
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    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="53034-5"/>
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    <valueCodeableConcept>
      <coding>
        <system value="http://loinc.org"/>
        <code value="LA6706-1"/>
        <display value="Heterozygous"/>
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  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48019-4"/>
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    <valueCodeableConcept>
      <coding>
        <system value="http://sequenceontology.org"/>
        <code value="SO:0000159"/>
        <display value="Deletion"/>
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  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48001-2"/>
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    <valueCodeableConcept>
      <coding>
        <system value="urn:oid:2.16.840.1.113883.6.335"/>
        <code value="5q31.2"/>
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</Observation>