MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 -
Germany
MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 -
Germany
This page is part of the MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht (v2027.0.0-ballot.1: Release) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions
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<timestamp value="2024-01-20T10:00:00+01:00"/>
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<fullUrl
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<Patient>
<id value="mii-exa-molgen-patient-wes"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Patient_mii-exa-molgen-patient-wes"> </a><p class="res-header-id"><b>Generated Narrative: Patient mii-exa-molgen-patient-wes</b></p><a name="mii-exa-molgen-patient-wes"> </a><a name="hcmii-exa-molgen-patient-wes"> </a><p style="border: 1px #661aff solid; background-color: #e6e6ff; padding: 10px;">Max Mustermann Male, DoB: 1970-01-01 ( https://www.medizininformatik-initiative.de/fhir/patient-ids#WES2024001)</p><hr/></div>
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<name>
<family value="Mustermann"/>
<given value="Max"/>
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<gender value="male"/>
<birthDate value="1970-01-01"/>
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<request>
<method value="POST"/>
<url value="Patient"/>
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</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/Device/mii-exa-molgen-device-illumina-novaseq"/>
<resource>
<Device>
<id value="mii-exa-molgen-device-illumina-novaseq"/>
<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-illumina-novaseq"> </a><p class="res-header-id"><b>Generated Narrative: Device mii-exa-molgen-device-illumina-novaseq</b></p><a name="mii-exa-molgen-device-illumina-novaseq"> </a><a name="hcmii-exa-molgen-device-illumina-novaseq"> </a><p><b>identifier</b>: <code>https://www.medizininformatik-initiative.de/fhir/sid/lab-devices</code>/NOVASEQ-6000-SN12345</p><p><b>status</b>: Active</p><p><b>manufacturer</b>: Illumina Inc.</p><p><b>serialNumber</b>: SN12345</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>NovaSeq 6000 Sequencing System</td><td>Model name</td></tr></table><p><b>modelNumber</b>: NovaSeq 6000</p><p><b>type</b>: <span title="Codes:{http://snomed.info/sct 30234008}">Medical laboratory analyzer</span></p></div>
</text>
<identifier>
<system
value="https://www.medizininformatik-initiative.de/fhir/sid/lab-devices"/>
<value value="NOVASEQ-6000-SN12345"/>
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<status value="active"/>
<manufacturer value="Illumina Inc."/>
<serialNumber value="SN12345"/>
<deviceName>
<name value="NovaSeq 6000 Sequencing System"/>
<type value="model-name"/>
</deviceName>
<modelNumber value="NovaSeq 6000"/>
<type>
<coding>
<system value="http://snomed.info/sct"/>
<code value="30234008"/>
<display value="Medical laboratory analyzer"/>
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<request>
<method value="POST"/>
<url value="Device"/>
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</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/Device/mii-exa-molgen-device-thermofisher-ionchef"/>
<resource>
<Device>
<id value="mii-exa-molgen-device-thermofisher-ionchef"/>
<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-thermofisher-ionchef"> </a><p class="res-header-id"><b>Generated Narrative: Device mii-exa-molgen-device-thermofisher-ionchef</b></p><a name="mii-exa-molgen-device-thermofisher-ionchef"> </a><a name="hcmii-exa-molgen-device-thermofisher-ionchef"> </a><p><b>identifier</b>: <code>https://www.medizininformatik-initiative.de/fhir/sid/lab-devices</code>/IONCHEF-IC12345</p><p><b>status</b>: Active</p><p><b>manufacturer</b>: Thermo Fisher Scientific</p><p><b>serialNumber</b>: IC12345</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>Ion Chef System</td><td>Model name</td></tr></table><p><b>modelNumber</b>: Ion Chef</p><p><b>type</b>: <span title="Codes:">Template preparation system (Ion Chef)</span></p></div>
</text>
<identifier>
<system
value="https://www.medizininformatik-initiative.de/fhir/sid/lab-devices"/>
<value value="IONCHEF-IC12345"/>
</identifier>
<status value="active"/>
<manufacturer value="Thermo Fisher Scientific"/>
<serialNumber value="IC12345"/>
<deviceName>
<name value="Ion Chef System"/>
<type value="model-name"/>
</deviceName>
<modelNumber value="Ion Chef"/>
<type>
<text value="Template preparation system (Ion Chef)"/>
</type>
</Device>
</resource>
<request>
<method value="POST"/>
<url value="Device"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/Specimen/mii-exa-molgen-specimen-blood-edta-bundle"/>
<resource>
<Specimen>
<id value="mii-exa-molgen-specimen-blood-edta-bundle"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Specimen_mii-exa-molgen-specimen-blood-edta-bundle"> </a><p class="res-header-id"><b>Generated Narrative: Specimen mii-exa-molgen-specimen-blood-edta-bundle</b></p><a name="mii-exa-molgen-specimen-blood-edta-bundle"> </a><a name="hcmii-exa-molgen-specimen-blood-edta-bundle"> </a><p><b>identifier</b>: <code>https://www.medizininformatik-initiative.de/fhir/sid/specimen-ids</code>/EDTA-2024-001</p><p><b>type</b>: <span title="Codes:{http://snomed.info/sct 119361006}">Plasma specimen</span></p><p><b>subject</b>: <a href="Bundle-mii-exa-molgen-bundle-comprehensive-wes.html#Patient_mii-exa-molgen-patient-wes">Max Mustermann Male, DoB: 1970-01-01 ( https://www.medizininformatik-initiative.de/fhir/patient-ids#WES2024001)</a></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>2024-01-15 09:30:00+0100</td></tr></table><h3>Containers</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Type</b></td><td><b>Capacity</b></td><td><b>SpecimenQuantity</b></td></tr><tr><td style="display: none">*</td><td><span title="Codes:{http://snomed.info/sct 767384004}">Evacuated blood collection tube with clot activator</span></td><td>10 milliliter<span style="background: LightGoldenRodYellow"> (Details: UCUM codemL = 'mL')</span></td><td>10 milliliter<span style="background: LightGoldenRodYellow"> (Details: UCUM codemL = 'mL')</span></td></tr></table></div>
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<value value="EDTA-2024-001"/>
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<system value="http://snomed.info/sct"/>
<code value="119361006"/>
<display value="Plasma specimen"/>
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<reference value="Patient/mii-exa-molgen-patient-wes"/>
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<collection>
<collectedDateTime value="2024-01-15T09:30:00+01:00"/>
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<system value="http://snomed.info/sct"/>
<code value="767384004"/>
<display
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<value value="10"/>
<unit value="milliliter"/>
<system value="http://unitsofmeasure.org"/>
<code value="mL"/>
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</container>
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</resource>
<request>
<method value="POST"/>
<url value="Specimen"/>
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</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/Specimen/mii-exa-molgen-specimen-dna-library-bundle"/>
<resource>
<Specimen>
<id value="mii-exa-molgen-specimen-dna-library-bundle"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Specimen_mii-exa-molgen-specimen-dna-library-bundle"> </a><p class="res-header-id"><b>Generated Narrative: Specimen mii-exa-molgen-specimen-dna-library-bundle</b></p><a name="mii-exa-molgen-specimen-dna-library-bundle"> </a><a name="hcmii-exa-molgen-specimen-dna-library-bundle"> </a><p><b>identifier</b>: <code>https://www.medizininformatik-initiative.de/fhir/sid/specimen-ids</code>/LIB-2024-001</p><p><b>type</b>: <span title="Codes:{http://snomed.info/sct 119342007}">DNA Library</span></p><p><b>subject</b>: <a href="Bundle-mii-exa-molgen-bundle-comprehensive-wes.html#Patient_mii-exa-molgen-patient-wes">Max Mustermann Male, DoB: 1970-01-01 ( https://www.medizininformatik-initiative.de/fhir/patient-ids#WES2024001)</a></p><p><b>parent</b>: <a href="Specimen-mii-exa-molgen-specimen-blood-edta.html">Specimen: identifier = https://www.medizininformatik-initiative.de/fhir/sid/specimen-ids#EDTA-2024-001; type = Plasma specimen</a></p><h3>Processings</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Description</b></td><td><b>Time[x]</b></td></tr><tr><td style="display: none">*</td><td>DNA extraction and library preparation using Agilent SureSelect</td><td>2024-01-16 14:00:00+0100</td></tr></table></div>
</text>
<identifier>
<system
value="https://www.medizininformatik-initiative.de/fhir/sid/specimen-ids"/>
<value value="LIB-2024-001"/>
</identifier>
<type>
<coding>
<system value="http://snomed.info/sct"/>
<code value="119342007"/>
<display value="Saliva specimen"/>
</coding>
<text value="DNA Library"/>
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<subject>
<reference value="Patient/mii-exa-molgen-patient-wes"/>
</subject>
<parent>🔗
<reference value="Specimen/mii-exa-molgen-specimen-blood-edta"/>
</parent>
<processing>
<description
value="DNA extraction and library preparation using Agilent SureSelect"/>
<timeDateTime value="2024-01-16T14:00:00+01:00"/>
</processing>
</Specimen>
</resource>
<request>
<method value="POST"/>
<url value="Specimen"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/PlanDefinition/mii-exa-molgen-protocol-agilent-sureselect"/>
<resource>
<PlanDefinition>
<id value="mii-exa-molgen-protocol-agilent-sureselect"/>
<language value="en"/>
<text>
<status value="extensions"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="PlanDefinition_mii-exa-molgen-protocol-agilent-sureselect"> </a>
<div>
<table class="grid dict">
<tr>
<th scope="row"><b>Id: </b></th>
<td style="padding-left: 4px;">mii-exa-molgen-protocol-agilent-sureselect</td>
</tr>
<tr>
<th scope="row"><b>Title: </b></th>
<td style="padding-left: 4px;">Agilent SureSelect Human All Exon V7 Kit Protocol</td>
</tr>
<tr>
<th scope="row"><b>Type: </b></th>
<td style="padding-left: 4px;">
<p style="margin-bottom: 5px;">
<b>system: </b> <span><a href="http://terminology.hl7.org/7.3.0/CodeSystem-plan-definition-type.html">http://terminology.hl7.org/CodeSystem/plan-definition-type</a></span>
</p>
<p style="margin-bottom: 5px;">
<b>code: </b> <span>protocol</span>
</p>
<p style="margin-bottom: 5px;">
<b>display: </b> <span>Protocol</span>
</p>
</td>
</tr>
<tr>
<th scope="row"><b>Description: </b></th>
<td style="padding-left: 4px;"><div><p>Target enrichment protocol for whole exome sequencing covering 35.8 Mb of the human exome</p>
</div></td>
</tr>
<tr>
<th scope="row"><b>Actions: </b></th>
<td style="padding-left: 4px;">
<table class="grid-dict">
<tr>
<td>
<b> DNA Fragmentation:</b> Fragment genomic DNA to 150-200bp using Covaris
<br/>
</td>
</tr>
<tr>
<td>
<b> Library Preparation:</b> End repair, A-tailing, adapter ligation
<br/>
</td>
</tr>
<tr>
<td>
<b> Hybridization:</b> Hybridize with SureSelect baits for 24 hours at 65°C
<br/>
</td>
</tr>
<tr>
<td>
<b> Capture:</b> Streptavidin bead capture and washing
<br/>
</td>
</tr>
<tr>
<td>
<b> Amplification:</b> PCR amplification of captured library
<br/>
</td>
</tr>
</table>
</td>
</tr>
</table>
</div>
</div>
</text>
<name value="AgilentSureSelectV7"/>
<title value="Agilent SureSelect Human All Exon V7 Kit Protocol"/>
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<system
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<code value="protocol"/>
<display value="Protocol"/>
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<status value="active"/>
<description
value="Target enrichment protocol for whole exome sequencing covering 35.8 Mb of the human exome"/>
<action>
<title value="DNA Fragmentation"/>
<description
value="Fragment genomic DNA to 150-200bp using Covaris"/>
</action>
<action>
<title value="Library Preparation"/>
<description value="End repair, A-tailing, adapter ligation"/>
</action>
<action>
<title value="Hybridization"/>
<description
value="Hybridize with SureSelect baits for 24 hours at 65°C"/>
</action>
<action>
<title value="Capture"/>
<description value="Streptavidin bead capture and washing"/>
</action>
<action>
<title value="Amplification"/>
<description value="PCR amplification of captured library"/>
</action>
</PlanDefinition>
</resource>
<request>
<method value="POST"/>
<url value="PlanDefinition"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/DocumentReference/mii-exa-molgen-documentreference-bed-file-bundle"/>
<resource>
<DocumentReference>
<id value="mii-exa-molgen-documentreference-bed-file-bundle"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="DocumentReference_mii-exa-molgen-documentreference-bed-file-bundle"> </a><p class="res-header-id"><b>Generated Narrative: DocumentReference mii-exa-molgen-documentreference-bed-file-bundle</b></p><a name="mii-exa-molgen-documentreference-bed-file-bundle"> </a><a name="hcmii-exa-molgen-documentreference-bed-file-bundle"> </a><p><b>status</b>: Current</p><p><b>type</b>: <span title="Codes:">BED file - Agilent SureSelect V7 target regions</span></p><p><b>subject</b>: <a href="Bundle-mii-exa-molgen-bundle-comprehensive-wes.html#Patient_mii-exa-molgen-patient-wes">Max Mustermann Male, DoB: 1970-01-01 ( https://www.medizininformatik-initiative.de/fhir/patient-ids#WES2024001)</a></p><blockquote><p><b>content</b></p><h3>Attachments</h3><table class="grid"><tr><td style="display: none">-</td><td><b>ContentType</b></td><td><b>Url</b></td><td><b>Title</b></td></tr><tr><td style="display: none">*</td><td>plain</td><td><a href="https://simplifier.net/resolve?scope=de.basisprofil.r4@1.6.0&canonical=https://www.medizininformatik-initiative.de/fhir/files/agilent_v7_targets.bed">https://www.medizininformatik-initiative.de/fhir/files/agilent_v7_targets.bed</a></td><td>Agilent SureSelect Human All Exon V7 Target Regions</td></tr></table></blockquote></div>
</text>
<status value="current"/>
<type>
<text value="BED file - Agilent SureSelect V7 target regions"/>
</type>
<subject>
<reference value="Patient/mii-exa-molgen-patient-wes"/>
</subject>
<content>
<attachment>
<contentType value="text/plain"/>
<url
value="https://www.medizininformatik-initiative.de/fhir/files/agilent_v7_targets.bed"/>
<title
value="Agilent SureSelect Human All Exon V7 Target Regions"/>
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</content>
</DocumentReference>
</resource>
<request>
<method value="POST"/>
<url value="DocumentReference"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/DocumentReference/mii-exa-molgen-documentreference-fastq-bundle"/>
<resource>
<DocumentReference>
<id value="mii-exa-molgen-documentreference-fastq-bundle"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="DocumentReference_mii-exa-molgen-documentreference-fastq-bundle"> </a><p class="res-header-id"><b>Generated Narrative: DocumentReference mii-exa-molgen-documentreference-fastq-bundle</b></p><a name="mii-exa-molgen-documentreference-fastq-bundle"> </a><a name="hcmii-exa-molgen-documentreference-fastq-bundle"> </a><p><b>status</b>: Current</p><p><b>type</b>: <span title="Codes:">FASTQ files - paired-end sequencing data</span></p><p><b>subject</b>: <a href="Bundle-mii-exa-molgen-bundle-comprehensive-wes.html#Patient_mii-exa-molgen-patient-wes">Max Mustermann Male, DoB: 1970-01-01 ( https://www.medizininformatik-initiative.de/fhir/patient-ids#WES2024001)</a></p><blockquote><p><b>content</b></p><h3>Attachments</h3><table class="grid"><tr><td style="display: none">-</td><td><b>ContentType</b></td><td><b>Url</b></td><td><b>Title</b></td></tr><tr><td style="display: none">*</td><td>gzip</td><td><a href="https://simplifier.net/resolve?scope=de.basisprofil.r4@1.6.0&canonical=https://www.medizininformatik-initiative.de/fhir/files/sample_R1.fastq.gz">https://www.medizininformatik-initiative.de/fhir/files/sample_R1.fastq.gz</a></td><td>Forward reads</td></tr></table></blockquote><blockquote><p><b>content</b></p><h3>Attachments</h3><table class="grid"><tr><td style="display: none">-</td><td><b>ContentType</b></td><td><b>Url</b></td><td><b>Title</b></td></tr><tr><td style="display: none">*</td><td>gzip</td><td><a href="https://simplifier.net/resolve?scope=de.basisprofil.r4@1.6.0&canonical=https://www.medizininformatik-initiative.de/fhir/files/sample_R2.fastq.gz">https://www.medizininformatik-initiative.de/fhir/files/sample_R2.fastq.gz</a></td><td>Reverse reads</td></tr></table></blockquote></div>
</text>
<status value="current"/>
<type>
<text value="FASTQ files - paired-end sequencing data"/>
</type>
<subject>
<reference value="Patient/mii-exa-molgen-patient-wes"/>
</subject>
<content>
<attachment>
<contentType value="application/gzip"/>
<url
value="https://www.medizininformatik-initiative.de/fhir/files/sample_R1.fastq.gz"/>
<title value="Forward reads"/>
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<content>
<attachment>
<contentType value="application/gzip"/>
<url
value="https://www.medizininformatik-initiative.de/fhir/files/sample_R2.fastq.gz"/>
<title value="Reverse reads"/>
</attachment>
</content>
</DocumentReference>
</resource>
<request>
<method value="POST"/>
<url value="DocumentReference"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/Procedure/mii-exa-molgen-genomic-study-comprehensive-wes-bundle"/>
<resource>
<Procedure>
<id value="mii-exa-molgen-genomic-study-comprehensive-wes-bundle"/>
<meta>
<profile
value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-pr-molgen-genomic-study"/>
<profile
value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genomic-study|2027.0.0-ballot.1"/>
</meta>
<language value="en"/>
<text>
<status value="extensions"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Procedure_mii-exa-molgen-genomic-study-comprehensive-wes-bundle"> </a><p class="res-header-id"><b>Generated Narrative: Procedure mii-exa-molgen-genomic-study-comprehensive-wes-bundle</b></p><a name="mii-exa-molgen-genomic-study-comprehensive-wes-bundle"> </a><a name="hcmii-exa-molgen-genomic-study-comprehensive-wes-bundle"> </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-genomic-study.html">MII PR MolGen Genomic Study</a>, <a href="https://simplifier.net/resolve?scope=de.basisprofil.r4@1.6.0&canonical=https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genomic-study|2027.0.0-ballot.1">https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genomic-study|2027.0.0-ballot.1</a></p></div><p><b>Genomic Study Analysis Extension</b>: <a href="Procedure-mii-exa-molgen-genomic-study-analysis-wes-library-prep.html">Procedure: extension = ->Specimen: identifier = https://www.medizininformatik-initiative.de/fhir/sid/specimen-ids#EDTA-2024-001; type = Plasma specimen,,DNA hybridization; status = completed; category = Laboratory</a></p><p><b>Genomic Study Analysis Extension</b>: <a href="Procedure-mii-exa-molgen-genomic-study-analysis-wes-sequencing.html">Procedure: extension = ->Specimen: identifier = https://www.medizininformatik-initiative.de/fhir/sid/specimen-ids#LIB-2024-001; type = Saliva specimen,,Sequencing,,; status = completed; category = Laboratory</a></p><p><b>Genomic Study Analysis Extension</b>: <a href="Procedure-mii-exa-molgen-genomic-study-analysis-wes-bioinformatics.html">Procedure: extension = ,Computational analysis,; status = completed; category = Laboratory</a></p><p><b>status</b>: Completed</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span></p><p><b>subject</b>: <a href="Bundle-mii-exa-molgen-bundle-comprehensive-wes.html#Patient_mii-exa-molgen-patient-wes">Max Mustermann Male, DoB: 1970-01-01 ( https://www.medizininformatik-initiative.de/fhir/patient-ids#WES2024001)</a></p></div>
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<valueReference>🔗
<reference
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</valueReference>
</extension>
<extension
url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext">
<valueReference>🔗
<reference
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</extension>
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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="Procedure_mii-exa-molgen-genomic-study-analysis-wes-library-prep-bundle"> </a><p class="res-header-id"><b>Generated Narrative: Procedure mii-exa-molgen-genomic-study-analysis-wes-library-prep-bundle</b></p><a name="mii-exa-molgen-genomic-study-analysis-wes-library-prep-bundle"> </a><a name="hcmii-exa-molgen-genomic-study-analysis-wes-library-prep-bundle"> </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-genomic-study-analysis.html">MII PR MolGen Genomic Study Analysis</a>, <a href="https://simplifier.net/resolve?scope=de.basisprofil.r4@1.6.0&canonical=https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genomic-study-analysis|2027.0.0-ballot.1">https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genomic-study-analysis|2027.0.0-ballot.1</a></p></div><p><b>Genomic Study Analysis Specimen</b>: <a href="Specimen-mii-exa-molgen-specimen-blood-edta.html">Specimen: identifier = https://www.medizininformatik-initiative.de/fhir/sid/specimen-ids#EDTA-2024-001; type = Plasma specimen</a></p><blockquote><p><b>Genomic Study Analysis Device</b></p><ul><li>device: <a href="Device-mii-exa-molgen-device-thermofisher-ionchef.html">Device: identifier = https://www.medizininformatik-initiative.de/fhir/sid/lab-devices#IONCHEF-IC12345; status = active; manufacturer = Thermo Fisher Scientific; serialNumber = IC12345; modelNumber = Ion Chef; type = </a></li></ul></blockquote><p><b>Genomic Study Analysis Method Type</b>: <span title="Codes:{http://loinc.org LA26810-4}">DNA hybridization</span></p><p><b>status</b>: Completed</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span></p><p><b>subject</b>: <a href="Bundle-mii-exa-molgen-bundle-comprehensive-wes.html#Patient_mii-exa-molgen-patient-wes">Max Mustermann Male, DoB: 1970-01-01 ( https://www.medizininformatik-initiative.de/fhir/patient-ids#WES2024001)</a></p></div>
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<valueReference>🔗
<reference
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</valueReference>
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<code value="LA26810-4"/>
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<subject>
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</resource>
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<method value="POST"/>
<url value="Procedure"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/Procedure/mii-exa-molgen-genomic-study-analysis-wes-sequencing-bundle"/>
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<Procedure>
<id
value="mii-exa-molgen-genomic-study-analysis-wes-sequencing-bundle"/>
<meta>
<profile
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<text>
<status value="extensions"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Procedure_mii-exa-molgen-genomic-study-analysis-wes-sequencing-bundle"> </a><p class="res-header-id"><b>Generated Narrative: Procedure mii-exa-molgen-genomic-study-analysis-wes-sequencing-bundle</b></p><a name="mii-exa-molgen-genomic-study-analysis-wes-sequencing-bundle"> </a><a name="hcmii-exa-molgen-genomic-study-analysis-wes-sequencing-bundle"> </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-genomic-study-analysis.html">MII PR MolGen Genomic Study Analysis</a>, <a href="https://simplifier.net/resolve?scope=de.basisprofil.r4@1.6.0&canonical=https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genomic-study-analysis|2027.0.0-ballot.1">https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genomic-study-analysis|2027.0.0-ballot.1</a></p></div><p><b>Genomic Study Analysis Specimen</b>: <a href="Specimen-mii-exa-molgen-specimen-dna-library.html">Specimen: identifier = https://www.medizininformatik-initiative.de/fhir/sid/specimen-ids#LIB-2024-001; type = Saliva specimen</a></p><blockquote><p><b>Genomic Study Analysis Device</b></p><ul><li>device: <a href="Device-mii-exa-molgen-device-illumina-novaseq.html">Device: identifier = https://www.medizininformatik-initiative.de/fhir/sid/lab-devices#NOVASEQ-6000-SN12345; status = active; manufacturer = Illumina Inc.; serialNumber = SN12345; modelNumber = NovaSeq 6000; type = Medical laboratory analyzer</a></li></ul></blockquote><p><b>Genomic Study Analysis Method Type</b>: <span title="Codes:{http://loinc.org LA26398-0}">Sequencing</span></p><p><b>status</b>: Completed</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span></p><p><b>subject</b>: <a href="Bundle-mii-exa-molgen-bundle-comprehensive-wes.html#Patient_mii-exa-molgen-patient-wes">Max Mustermann Male, DoB: 1970-01-01 ( https://www.medizininformatik-initiative.de/fhir/patient-ids#WES2024001)</a></p></div>
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<valueReference>🔗
<reference value="Specimen/mii-exa-molgen-specimen-dna-library"/>
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</extension>
<extension
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<extension url="device">
<valueReference>🔗
<reference
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</extension>
</extension>
<extension
url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type">
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<coding>
<system value="http://loinc.org"/>
<code value="LA26398-0"/>
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<status value="completed"/>
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<system
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</coding>
</category>
<subject>
<reference value="Patient/mii-exa-molgen-patient-wes"/>
</subject>
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<request>
<method value="POST"/>
<url value="Procedure"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/Procedure/mii-exa-molgen-genomic-study-analysis-wes-bioinformatics-bundle"/>
<resource>
<Procedure>
<id
value="mii-exa-molgen-genomic-study-analysis-wes-bioinformatics-bundle"/>
<meta>
<profile
value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-pr-molgen-genomic-study-analysis"/>
<profile
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</meta>
<language value="en"/>
<text>
<status value="extensions"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Procedure_mii-exa-molgen-genomic-study-analysis-wes-bioinformatics-bundle"> </a><p class="res-header-id"><b>Generated Narrative: Procedure mii-exa-molgen-genomic-study-analysis-wes-bioinformatics-bundle</b></p><a name="mii-exa-molgen-genomic-study-analysis-wes-bioinformatics-bundle"> </a><a name="hcmii-exa-molgen-genomic-study-analysis-wes-bioinformatics-bundle"> </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-genomic-study-analysis.html">MII PR MolGen Genomic Study Analysis</a>, <a href="https://simplifier.net/resolve?scope=de.basisprofil.r4@1.6.0&canonical=https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genomic-study-analysis|2027.0.0-ballot.1">https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genomic-study-analysis|2027.0.0-ballot.1</a></p></div><p><b>Genomic Study Analysis Method Type</b>: <span title="Codes:{http://loinc.org LA26811-2}">Computational analysis</span></p><p><b>status</b>: Completed</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span></p><p><b>subject</b>: <a href="Bundle-mii-exa-molgen-bundle-comprehensive-wes.html#Patient_mii-exa-molgen-patient-wes">Max Mustermann Male, DoB: 1970-01-01 ( https://www.medizininformatik-initiative.de/fhir/patient-ids#WES2024001)</a></p></div>
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<code value="LA26811-2"/>
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<subject>
<reference value="Patient/mii-exa-molgen-patient-wes"/>
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</resource>
<request>
<method value="POST"/>
<url value="Procedure"/>
</request>
</entry>
<entry>
<fullUrl
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<resource>
<ServiceRequest>
<id value="mii-exa-molgen-anforderung-wes-bundle"/>
<meta>
<profile
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</meta>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="ServiceRequest_mii-exa-molgen-anforderung-wes-bundle"> </a><p class="res-header-id"><b>Generated Narrative: ServiceRequest mii-exa-molgen-anforderung-wes-bundle</b></p><a name="mii-exa-molgen-anforderung-wes-bundle"> </a><a name="hcmii-exa-molgen-anforderung-wes-bundle"> </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>status</b>: Completed</p><p><b>intent</b>: Order</p><p><b>code</b>: <span title="Codes:{http://loinc.org 86205-2}">Whole exome sequence analysis in Blood or Tissue by Molecular genetics method</span></p><p><b>subject</b>: <a href="Bundle-mii-exa-molgen-bundle-comprehensive-wes.html#Patient_mii-exa-molgen-patient-wes">Max Mustermann Male, DoB: 1970-01-01 ( https://www.medizininformatik-initiative.de/fhir/patient-ids#WES2024001)</a></p><p><b>authoredOn</b>: 2024-01-10</p><p><b>requester</b>: <a href="Bundle-mii-exa-molgen-bundle-comprehensive-wes.html#Practitioner_mii-exa-molgen-practitioner-bundle">Practitioner Anna Schmidt </a></p><p><b>reasonCode</b>: <span title="Codes:{http://snomed.info/sct 110359009}">Intellectual disability (disorder)</span></p></div>
</text>
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<subject>
<reference value="Patient/mii-exa-molgen-patient-wes"/>
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<authoredOn value="2024-01-10"/>
<requester>
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<system value="http://snomed.info/sct"/>
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<request>
<method value="POST"/>
<url value="ServiceRequest"/>
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<entry>
<fullUrl
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<resource>
<Observation>
<id value="mii-exa-molgen-variante-comprehensive-pathogenic-bundle"/>
<meta>
<profile
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<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Observation_mii-exa-molgen-variante-comprehensive-pathogenic-bundle"> </a><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-molgen-variante-comprehensive-pathogenic-bundle</b></p><a name="mii-exa-molgen-variante-comprehensive-pathogenic-bundle"> </a><a name="hcmii-exa-molgen-variante-comprehensive-pathogenic-bundle"> </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-variante.html">MII PR MolGen Variante</a> version: 2027.0.0-ballot.1</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="Bundle-mii-exa-molgen-bundle-comprehensive-wes.html#Patient_mii-exa-molgen-patient-wes">Max Mustermann Male, DoB: 1970-01-01 ( https://www.medizininformatik-initiative.de/fhir/patient-ids#WES2024001)</a></p><p><b>effective</b>: 2024-01-10</p><p><b>value</b>: <span title="Codes:{http://loinc.org LA9633-4}">Present</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:7132}">KMT2A</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_005933.3:c.3463C>T}">NM_005933.3:c.3463C>T</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.(Arg1155Ter)}">p.(Arg1155Ter)</span></p></blockquote></div>
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<system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
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<system value="http://loinc.org"/>
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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-comprehensive-bundle"> </a><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-molgen-diagnostische-implikation-comprehensive-bundle</b></p><a name="mii-exa-molgen-diagnostische-implikation-comprehensive-bundle"> </a><a name="hcmii-exa-molgen-diagnostische-implikation-comprehensive-bundle"> </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-diagnostische-implikation.html">MII PR MolGen Diagnostische Implikation</a> version: 2027.0.0-ballot.1</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="Bundle-mii-exa-molgen-bundle-comprehensive-wes.html#Patient_mii-exa-molgen-patient-wes">Max Mustermann Male, DoB: 1970-01-01 ( https://www.medizininformatik-initiative.de/fhir/patient-ids#WES2024001)</a></p><p><b>effective</b>: 2024-01-10</p><p><b>derivedFrom</b>: <a href="Observation-mii-exa-molgen-variante-comprehensive-pathogenic.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://loinc.org 53037-8}">Genetic variation clinical significance [Imp]</span></td><td><span title="Codes:{http://loinc.org LA6668-3}">Pathogenic</span></td></tr></table></div>
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<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="DiagnosticReport_mii-exa-molgen-befundbericht-comprehensive-wes-bundle"> </a><p class="res-header-id"><b>Generated Narrative: DiagnosticReport mii-exa-molgen-befundbericht-comprehensive-wes-bundle</b></p><a name="mii-exa-molgen-befundbericht-comprehensive-wes-bundle"> </a><a name="hcmii-exa-molgen-befundbericht-comprehensive-wes-bundle"> </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>Max Mustermann Male, DoB: 1970-01-01 ( https://www.medizininformatik-initiative.de/fhir/patient-ids#WES2024001)</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-variante-comprehensive-pathogenic.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>2024-01-10</td></tr><tr><td><a href="Observation-mii-exa-molgen-diagnostische-implikation-comprehensive.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>2024-01-10</td></tr></table><p>Whole exome sequencing identified a pathogenic de novo variant in the KMT2A gene, consistent with Wiedemann-Steiner syndrome. Technical quality metrics met all acceptance criteria.</p><p><b>Coded Conclusions:</b></p><ul><li><span title="Codes:{http://loinc.org LA6576-8}">Positive</span></li></ul></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-bundle"> </a><p class="res-header-id"><b>Generated Narrative: Practitioner mii-exa-molgen-practitioner-lab-bundle</b></p><a name="mii-exa-molgen-practitioner-lab-bundle"> </a><a name="hcmii-exa-molgen-practitioner-lab-bundle"> </a><p><b>identifier</b>: <code>https://www.medizininformatik-initiative.de/fhir/sid/practitioner-ids</code>/67890</p><p><b>name</b>: Thomas Weber </p></div>
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