MII IG 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

: Variante SMO CNV

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<Observation xmlns="http://hl7.org/fhir">
  <id value="mii-exa-molgen-variante-cnv-4"/>
  <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-cnv-4</b></p><a name="mii-exa-molgen-variante-cnv-4"> </a><a name="hcmii-exa-molgen-variante-cnv-4"> </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>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-2.html">Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))</a></p><p><b>effective</b>: 2022-03-16</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}">Analysepipeline XXX, Auswertungssoftware XXX, Prozessierungssystem XXX</span></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:11119}">SMO</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:0001742}">copy_number_gain</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 82155-3}">Genomic structural variant copy number</span></p><p><b>value</b>: 6 1<span style="background: LightGoldenRodYellow"> (Details: UCUM  code1 = '1')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 47999-8}">DNA region name [Identifier]</span></p><p><b>value</b>: Ex 1-10</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48000-4}">Chromosome [Identifier] in Blood or Tissue by Molecular genetics method</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA21260-7}">Chromosome 7</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 7q32.1}">7q32.1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81258-6}">Sample variant allelic frequency [NFr]</span></p><p><b>value</b>: 55 %<span style="background: LightGoldenRodYellow"> (Details: UCUM  code% = '%')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 87706-8}">Laboratory device Detection limit</span></p><p><b>value</b>: &gt;95 %<span style="background: LightGoldenRodYellow"> (Details: UCUM  code% = '%')</span></p></blockquote></div>
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  <status value="final"/>
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      <system
              value="http://terminology.hl7.org/CodeSystem/observation-category"/>
      <code value="laboratory"/>
      <display value="Laboratory"/>
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  </category>
  <category>
    <coding>
      <system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
      <code value="GE"/>
    </coding>
  </category>
  <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-2"/>
  </subject>
  <effectiveDateTime value="2022-03-16"/>
  <valueCodeableConcept>
    <coding>
      <system value="http://loinc.org"/>
      <code value="LA9633-4"/>
      <display value="Present"/>
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  </valueCodeableConcept>
  <method>
    <coding>
      <system value="http://loinc.org"/>
      <code value="LA26398-0"/>
      <display value="Sequencing"/>
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    <text
          value="Analysepipeline XXX, Auswertungssoftware XXX, Prozessierungssystem XXX"/>
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    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48018-6"/>
        <display value="Gene studied [ID]"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://www.genenames.org/geneId"/>
        <code value="HGNC:11119"/>
        <display value="SMO"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <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:0001742"/>
        <display value="copy_number_gain"/>
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    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="82155-3"/>
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    </code>
    <valueQuantity>
      <value value="6"/>
      <unit value="1"/>
      <system value="http://unitsofmeasure.org"/>
      <code value="1"/>
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  </component>
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    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="47999-8"/>
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    <valueString value="Ex 1-10"/>
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  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48000-4"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://loinc.org"/>
        <code value="LA21260-7"/>
        <display value="Chromosome 7"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48001-2"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="urn:oid:2.16.840.1.113883.6.335"/>
        <code value="7q32.1"/>
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    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="81258-6"/>
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    <valueQuantity>
      <value value="55"/>
      <unit value="%"/>
      <system value="http://unitsofmeasure.org"/>
      <code value="%"/>
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    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="87706-8"/>
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    <valueQuantity>
      <value value="95"/>
      <comparator value="&gt;"/>
      <unit value="%"/>
      <system value="http://unitsofmeasure.org"/>
      <code value="%"/>
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