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="Task_mii-exa-molgen-folgemassnahme-brca1"> </a><p class="res-header-id"><b>Generated Narrative: Task mii-exa-molgen-folgemassnahme-brca1</b></p><a name="mii-exa-molgen-folgemassnahme-brca1"> </a><a name="hcmii-exa-molgen-folgemassnahme-brca1"> </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-empfohlene-folgemassnahme.html">MII PR MolGen Empfohlene Folgemaßnahme</a> version: 2027.0.0-ballot.1, <a href="http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-followup-recommendation.html">Followup Recommendation</a> version: 3.0.0</p></div><p><b>basedOn</b>: <a href="ServiceRequest-mii-exa-molgen-anforderung-trurisk-panel.html">ServiceRequest Molecular genetic test (procedure)</a></p><p><b>status</b>: Requested</p><p><b>intent</b>: proposal</p><p><b>code</b>: <span title="Codes:{http://loinc.org LA14020-4}">Genetic counseling recommended</span></p><p><b>description</b>: Eine genetische Beratung hinsichtlich einer gezielten Testung leiblicher Familienmitglieder wird empfohlen.</p><p><b>for</b>: <a href="Patient-mii-exa-molgen-patient-brca1.html">Elisa Schmidt-Huber (official) Female, DoB: 1973-03-12 ( Medical record number (use: usual, ))</a></p></div>
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<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="RiskAssessment_mii-exa-molgen-prs-brca1"> </a><p class="res-header-id"><b>Generated Narrative: RiskAssessment mii-exa-molgen-prs-brca1</b></p><a name="mii-exa-molgen-prs-brca1"> </a><a name="hcmii-exa-molgen-prs-brca1"> </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-polygener-risiko-score.html">MII PR MolGen Polygener Risiko Score</a> version: 2027.0.0-ballot.1</p></div><p><b>status</b>: Final</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>occurrence</b>: 2022-11-01</p><p><b>basis</b>: <a href="Observation-mii-exa-molgen-variante-brca1.html">Observation Genetic variant assessment</a></p><h3>Predictions</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Extension</b></td><td><b>Outcome</b></td><td><b>QualitativeRisk</b></td></tr><tr><td style="display: none">*</td><td/><td><span title="Codes:{http://snomed.info/sct 718220008}">Hereditary breast and ovarian cancer syndrome (disorder)</span></td><td><span title="Codes:{http://terminology.hl7.org/CodeSystem/risk-probability high}">High likelihood</span></td></tr></table></div>
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<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Specimen_mii-exa-molgen-specimen-brca1"> </a><p class="res-header-id"><b>Generated Narrative: Specimen mii-exa-molgen-specimen-brca1</b></p><a name="mii-exa-molgen-specimen-brca1"> </a><a name="hcmii-exa-molgen-specimen-brca1"> </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>/specimen_03</p><p><b>status</b>: Available</p><p><b>type</b>: <span title="Codes:{http://snomed.info/sct 127457009}">Tissue specimen from breast (specimen)</span></p><p><b>subject</b>: <a href="Patient-mii-exa-molgen-patient-brca1.html">Elisa Schmidt-Huber (official) Female, DoB: 1973-03-12 ( Medical record number (use: usual, ))</a></p><p><b>receivedTime</b>: 2022-11-01</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>2022-11-01</td></tr></table></div>
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<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Device_mii-exa-molgen-device-sequencer-nextseq"> </a><p class="res-header-id"><b>Generated Narrative: Device mii-exa-molgen-device-sequencer-nextseq</b></p><a name="mii-exa-molgen-device-sequencer-nextseq"> </a><a name="hcmii-exa-molgen-device-sequencer-nextseq"> </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>NextSeq</td><td>Manufacturer name</td></tr></table></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-brca1"> </a><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-molgen-variante-brca1</b></p><a name="mii-exa-molgen-variante-brca1"> </a><a name="hcmii-exa-molgen-variante-brca1"> </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-trurisk-panel.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-brca1.html">Elisa Schmidt-Huber (official) Female, DoB: 1973-03-12 ( Medical record number (use: usual, ))</a></p><p><b>effective</b>: 2022-11-01</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-brca1.html">Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#specimen_03; status = available; type = Tissue specimen from breast (specimen); receivedTime = 2022-11-01</a></p><p><b>device</b>: <a href="Device-mii-exa-molgen-device-sequencer-nextseq.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:1100}">BRCA1</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 17q21.31}">17q21.31</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_007294.3:c.5266dupC}">NM_007294.3:c.5266dupC</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_007294.3}">NM_007294.3</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:1000035}">Duplication</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 82121-5}">Allelic read depth</span></p><p><b>value</b>: 50 Abdeckung der Fragmente<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 81252-9}">Discrete genetic variant</span></p><p><b>value</b>: <span title="Codes:{http://www.ncbi.nlm.nih.gov/projects/SNP rs80357906}">rs80357906</span></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 LA21270-6}">Chromosome 17</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.Gln1756Profs}">p.Gln1756Profs</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>: >95 %<span style="background: LightGoldenRodYellow"> (Details: UCUM code% = '%')</span></p></blockquote></div>
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