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="Patient_mii-exa-molgen-patient-srcc"> </a><p class="res-header-id"><b>Generated Narrative: Patient mii-exa-molgen-patient-srcc</b></p><a name="mii-exa-molgen-patient-srcc"> </a><a name="hcmii-exa-molgen-patient-srcc"> </a><p style="border: 1px #661aff solid; background-color: #e6e6ff; padding: 10px;">Anonymous Patient Male, DoB: 1986-01 ( pseudonymized (use: usual, ))</p><hr/><table class="grid"><tr><td style="background-color: #f3f5da" title="Known status of Patient">Deceased:</td><td colspan="3">false</td></tr><tr><td style="background-color: #f3f5da" title="Ways to contact the Patient">Contact Detail</td><td colspan="3">10 DE </td></tr></table></div>
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<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Practitioner_mii-exa-molgen-practitioner-lab"> </a><p class="res-header-id"><b>Generated Narrative: Practitioner mii-exa-molgen-practitioner-lab</b></p><a name="mii-exa-molgen-practitioner-lab"> </a><a name="hcmii-exa-molgen-practitioner-lab"> </a><p><b>active</b>: true</p><p><b>name</b>: Dr. Daniel Schmidt(Official)</p></div>
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<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Practitioner_mii-exa-molgen-practitioner-physician"> </a><p class="res-header-id"><b>Generated Narrative: Practitioner mii-exa-molgen-practitioner-physician</b></p><a name="mii-exa-molgen-practitioner-physician"> </a><a name="hcmii-exa-molgen-practitioner-physician"> </a><p><b>active</b>: true</p><p><b>name</b>: Dr. Linda Rubens(Official)</p></div>
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<Specimen>
<id value="mii-exa-molgen-specimen-srcc"/>
<meta>
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<language value="en"/>
<text>
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<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Specimen_mii-exa-molgen-specimen-srcc"> </a><p class="res-header-id"><b>Generated Narrative: Specimen mii-exa-molgen-specimen-srcc</b></p><a name="mii-exa-molgen-specimen-srcc"> </a><a name="hcmii-exa-molgen-specimen-srcc"> </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="file:///home/runner/work/kerndatensatzmodul-biobank/kerndatensatzmodul-biobank/output/StructureDefinition-mii-pr-biobank-specimen-core.html">MII PR Biobank Specimen Bioprobe Core</a></p></div><p><b>identifier</b>: <code>https://www.charite.de/fhir/sid/bioproben</code>/00070024</p><p><b>status</b>: Available</p><p><b>type</b>: <span title="Codes:{http://snomed.info/sct 445295009}">Blood specimen with edetic acid (specimen)</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>receivedTime</b>: 2022-11-30</p><h3>Collections</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Collected[x]</b></td></tr><tr><td style="display: none">*</td><td>2022-11-30</td></tr></table></div>
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<code value="445295009"/>
<display value="Blood specimen with edetic acid (specimen)"/>
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<subject>🔗
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<receivedTime value="2022-11-30"/>
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<Specimen>
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<language value="en"/>
<text>
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<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Specimen_mii-exa-molgen-specimen-srcc-2"> </a><p class="res-header-id"><b>Generated Narrative: Specimen mii-exa-molgen-specimen-srcc-2</b></p><a name="mii-exa-molgen-specimen-srcc-2"> </a><a name="hcmii-exa-molgen-specimen-srcc-2"> </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="file:///home/runner/work/kerndatensatzmodul-biobank/kerndatensatzmodul-biobank/output/StructureDefinition-mii-pr-biobank-specimen-core.html">MII PR Biobank Specimen Bioprobe Core</a></p></div><p><b>identifier</b>: <code>https://www.charite.de/fhir/sid/bioproben</code>/00070025</p><p><b>status</b>: Available</p><p><b>type</b>: <span title="Codes:{http://snomed.info/sct 445295009}">Blood specimen with edetic acid (specimen)</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>receivedTime</b>: 2022-11-30</p><h3>Collections</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Collected[x]</b></td></tr><tr><td style="display: none">*</td><td>2022-11-30</td></tr></table></div>
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<subject>🔗
<reference value="Patient/mii-exa-molgen-patient-srcc"/>
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<receivedTime value="2022-11-30"/>
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<url value="Specimen/mii-exa-molgen-specimen-srcc-2"/>
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<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="DiagnosticReport_mii-exa-molgen-befundbericht-srcc"> </a><p class="res-header-id"><b>Generated Narrative: DiagnosticReport mii-exa-molgen-befundbericht-srcc</b></p><a name="mii-exa-molgen-befundbericht-srcc"> </a><a name="hcmii-exa-molgen-befundbericht-srcc"> </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 Male, DoB: 1986-01 ( 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-srcc-ctnna1.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-srcc-ctnna1.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></table><p>Nachweis der pathogenen Variante im CTNNA1-Gen.</p></div>
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<basedOn>🔗
<reference value="ServiceRequest/mii-exa-molgen-anforderung-srcc"/>
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<subject>🔗
<reference value="Patient/mii-exa-molgen-patient-srcc"/>
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<performer>🔗
<reference value="Practitioner/mii-exa-molgen-practitioner-lab"/>
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<specimen>🔗
<reference value="Specimen/mii-exa-molgen-specimen-srcc"/>
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<specimen>🔗
<reference value="Specimen/mii-exa-molgen-specimen-srcc-2"/>
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<result>🔗
<reference
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<result>🔗
<reference value="Observation/mii-exa-molgen-variante-srcc-ctnna1"/>
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<conclusion value="Nachweis der pathogenen Variante im CTNNA1-Gen."/>
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<url value="DiagnosticReport/mii-exa-molgen-befundbericht-srcc"/>
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<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="ServiceRequest_mii-exa-molgen-anforderung-srcc"> </a><p class="res-header-id"><b>Generated Narrative: ServiceRequest mii-exa-molgen-anforderung-srcc</b></p><a name="mii-exa-molgen-anforderung-srcc"> </a><a name="hcmii-exa-molgen-anforderung-srcc"> </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>/7B369EB0</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}">Molekulargenetische Untersuchung (Stufendiagnostik) der relevanten Gene</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>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 87737001}, {http://fhir.de/CodeSystem/bfarm/icd-10-gm C16.9}">Eigenanamnese: Siegelringkarzinom des Magens, diffus wachsend</span>, <span title="Codes:{http://snomed.info/sct 429740004}">Mutter an Brustkrebs verstorben</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></div>
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<code value="405825005"/>
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<text
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<subject>🔗
<reference value="Patient/mii-exa-molgen-patient-srcc"/>
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<authoredOn value="2022-11-30"/>
<requester>🔗
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<code value="87737001"/>
<display value="Signet ring cell carcinoma"/>
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<code value="429740004"/>
<display
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<text value="Mutter an Brustkrebs verstorben"/>
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<specimen>🔗
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<url value="ServiceRequest/mii-exa-molgen-anforderung-srcc"/>
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<entry>
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<Device>
<id value="mii-exa-molgen-device-sequencer"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Device_mii-exa-molgen-device-sequencer"> </a><p class="res-header-id"><b>Generated Narrative: Device mii-exa-molgen-device-sequencer</b></p><a name="mii-exa-molgen-device-sequencer"> </a><a name="hcmii-exa-molgen-device-sequencer"> </a><p><b>status</b>: Active</p><p><b>manufacturer</b>: Illumina</p><h3>DeviceNames</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Name</b></td><td><b>Type</b></td></tr><tr><td style="display: none">*</td><td>MiSeq</td><td>Manufacturer name</td></tr></table></div>
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<method value="PUT"/>
<url value="Device/mii-exa-molgen-device-sequencer"/>
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<entry>
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<meta>
<profile
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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-srcc-ctnna1"> </a><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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