MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 -
Germany
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
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<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="DiagnosticReport_mii-exa-molgen-befundbericht-fgfr2-fusion"> </a><p class="res-header-id"><b>Generated Narrative: DiagnosticReport mii-exa-molgen-befundbericht-fgfr2-fusion</b></p><a name="mii-exa-molgen-befundbericht-fgfr2-fusion"> </a><a name="hcmii-exa-molgen-befundbericht-fgfr2-fusion"> </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-molekulargenetischer-befundbericht.html">MII PR MolGen Molekulargenetischer Befundbericht</a> version: 2027.0.0-ballot.1, <a href="http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-genomic-report.html">Genomic Report</a> version: 3.0.0</p></div><h2><span title="Codes:{http://loinc.org 51969-4}">Genetic analysis report</span> (<span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span>) </h2><table class="grid"><tr><td>Subject</td><td>Anonymous Patient Female, DoB: 1964-05 ( pseudonymized (use: usual, ))</td></tr><tr><td>Performer</td><td> <a href="Practitioner-mii-exa-molgen-practitioner-lab.html">Practitioner Dr. Daniel Schmidt(official)</a></td></tr></table><p><b>Report Details</b></p><table class="grid"><tr><td><b>Code</b></td><td><b>Value</b></td><td><b>Flags</b></td><td><b>Relevant Time</b></td></tr><tr><td><a href="Observation-mii-exa-molgen-diagnostische-implikation-fgfr2-fusion.html"><span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}">Diagnostic Implication</span></a></td><td/><td>Final</td><td>2022-11-30</td></tr><tr><td><a href="Observation-mii-exa-molgen-variante-fgfr2-fusion.html"><span title="Codes:{http://loinc.org 69548-6}">Genetic variant assessment</span></a></td><td><span title="Codes:{http://loinc.org LA9633-4}">Present</span></td><td>Final</td><td>2022-11-30</td></tr><tr><td><a href="Observation-mii-exa-molgen-therapeutische-implikation-fgfr2-fusion.html"><span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}">Therapeutic Implication</span></a></td><td/><td>Final</td><td>2022-11-30</td></tr></table><p>Nachweis FGFR2-Fusion. Empfehlung: Hochselektive FGFR-Inhibitor-Therapie.</p></div>
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<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="ServiceRequest_mii-exa-molgen-anforderung-fgfr2-fusion"> </a><p class="res-header-id"><b>Generated Narrative: ServiceRequest mii-exa-molgen-anforderung-fgfr2-fusion</b></p><a name="mii-exa-molgen-anforderung-fgfr2-fusion"> </a><a name="hcmii-exa-molgen-anforderung-fgfr2-fusion"> </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">Profile: <a href="StructureDefinition-mii-pr-molgen-anforderung-genetischer-test.html">MII PR MolGen Anforderung genetischer Test</a> version: 2027.0.0-ballot.1</p></div><p><b>identifier</b>: <code>https://www.charite.de/fhir/auftragsnummern</code>/PRK4QE59A</p><p><b>status</b>: Active</p><p><b>intent</b>: Order</p><p><b>category</b>: <span title="Codes:{http://snomed.info/sct 108252007}">Laboratory procedure (procedure)</span></p><p><b>code</b>: <span title="Codes:{http://snomed.info/sct 405825005}">Therapierelevante genetische Veränderungen bei Intrahepatischem Gallengangskarzinom</span></p><p><b>subject</b>: <a href="Patient-mii-exa-molgen-patient-fgfr2-fusion.html">Anonymous Patient Female, DoB: 1964-05 ( pseudonymized (use: usual, ))</a></p><p><b>authoredOn</b>: 2022-11-30</p><p><b>requester</b>: <a href="Practitioner-mii-exa-molgen-practitioner-physician.html">Practitioner Dr. Linda Rubens(official)</a></p><p><b>reasonCode</b>: <span title="Codes:{http://snomed.info/sct 109842005}, {http://fhir.de/CodeSystem/bfarm/icd-10-gm C22.1}">Intrahepatic bile duct carcinoma (disorder)</span></p></div>
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<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Observation_mii-exa-molgen-variante-fgfr2-fusion"> </a><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-molgen-variante-fgfr2-fusion</b></p><a name="mii-exa-molgen-variante-fgfr2-fusion"> </a><a name="hcmii-exa-molgen-variante-fgfr2-fusion"> </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-fgfr2-fusion.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-fgfr2-fusion.html">Anonymous Patient Female, DoB: 1964-05 ( 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}, {http://loinc.org 86206-0}">Sequencing</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:3689}">FGFR2</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:0001565}">gene_fusion</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 95123-6}">Gene fusion transcript details in Blood or Tissue by Molecular genetics method Narrative</span></p><p><b>value</b>: <span title="Codes:{http://www.genenames.org/geneId HGNC:3689::HGNC:2697}">FGFR2::DBP</span></p></blockquote></div>
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<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Observation_mii-exa-molgen-diagnostische-implikation-fgfr2-fusion"> </a><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-molgen-diagnostische-implikation-fgfr2-fusion</b></p><a name="mii-exa-molgen-diagnostische-implikation-fgfr2-fusion"> </a><a name="hcmii-exa-molgen-diagnostische-implikation-fgfr2-fusion"> </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>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-fgfr2-fusion.html">Anonymous Patient Female, DoB: 1964-05 ( 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-fgfr2-fusion.html">Observation Genetic variant assessment</a></p><h3>Components</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style="display: none">*</td><td><span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs conclusion-string}">Conclusion Text</span></td><td>starke Überexpression (25-fach)</td></tr></table></div>
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