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

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: mii-exa-molgen-diagnostische-implikation-srcc-ctnna1

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<Observation xmlns="http://hl7.org/fhir">
  <id value="mii-exa-molgen-diagnostische-implikation-srcc-ctnna1"/>
  <meta>
    <profile
             value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/diagnostische-implikation|2027.0.0-ballot.1"/>
    <profile
             value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication|3.0.0"/>
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  <language value="en"/>
  <text>
    <status value="extensions"/>
    <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-diagnostische-implikation-srcc-ctnna1</b></p><a name="mii-exa-molgen-diagnostische-implikation-srcc-ctnna1"> </a><a name="hcmii-exa-molgen-diagnostische-implikation-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-diagnostische-implikation.html">MII PR MolGen Diagnostische Implikation</a> version: 2027.0.0-ballot.1, <a href="http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-diagnostic-implication.html">Diagnostic Implication</a> version: 3.0.0</p></div><p><b>Related artifact</b>: No display for RelatedArtifact  (type: citation; citation: ClinGen; url: https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2509)</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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}">Diagnostic Implication</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>performer</b>: <a href="Practitioner-mii-exa-molgen-practitioner-lab.html">Practitioner Dr. Daniel Schmidt(official)</a></p><p><b>derivedFrom</b>: <a href="Observation-mii-exa-molgen-variante-srcc-ctnna1.html">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs conclusion-string}">Conclusion Text</span></p><p><b>value</b>: Diese Variante wird nach den ACMG/AMP-Kriterien zusammenfasssend als pathogen bewertet entsprechend IARC Class 5.</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 53037-8}">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA6668-3}">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81259-4}">Associated phenotype</span></p><p><b>value</b>: <span title="Codes:{http://snomed.info/sct 716859000}">Hereditary diffuse carcinoma of stomach (disorder)</span></p></blockquote></div>
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      <code value="diagnostic-implication"/>
      <display value="Diagnostic Implication"/>
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  </code>
  <subject>🔗 
    <reference value="Patient/mii-exa-molgen-patient-srcc"/>
  </subject>
  <effectiveDateTime value="2022-11-30"/>
  <performer>🔗 
    <reference value="Practitioner/mii-exa-molgen-practitioner-lab"/>
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  <derivedFrom>🔗 
    <reference value="Observation/mii-exa-molgen-variante-srcc-ctnna1"/>
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