FHIR IG analytics| Package | de.medizininformatikinitiative.kerndatensatz.molgen |
| Resource Type | Bundle |
| Id | Bundle-mii-exa-molgen-bundle-comprehensive-wes.json |
| FHIR Version | R4 |
No resources found
No resources found
No narrative content found in resource
FHIR
FHIRsmith{
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"type": "transaction",
"timestamp": "2024-01-20T10:00:00+01:00",
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"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><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></div>"
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{
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{
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"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><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></div>"
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{
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{
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{
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"id": "mii-exa-molgen-device-thermofisher-ionchef",
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"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><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></div>"
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{
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{
"name": "Ion Chef System",
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"text": "Template preparation system (Ion Chef)"
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{
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"id": "mii-exa-molgen-specimen-blood-edta-bundle",
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><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></div>"
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{
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"coding": [
{
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{
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"id": "mii-exa-molgen-specimen-dna-library-bundle",
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><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></div>"
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{
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"type": {
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{
"system": "http://snomed.info/sct",
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"display": "Saliva specimen"
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"text": "DNA Library"
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"subject": {
"reference": "Patient/mii-exa-molgen-patient-wes"
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{
"reference": "Specimen/mii-exa-molgen-specimen-blood-edta"
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},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/PlanDefinition/mii-exa-molgen-protocol-agilent-sureselect",
"resource": {
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"id": "mii-exa-molgen-protocol-agilent-sureselect",
"text": {
"status": "extensions",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><a name=\"PlanDefinition_mii-exa-molgen-protocol-agilent-sureselect\"> </a>\n<div>\n <table class=\"grid dict\">\n \n <tr>\n <th scope=\"row\"><b>Id: </b></th>\n <td style=\"padding-left: 4px;\">mii-exa-molgen-protocol-agilent-sureselect</td>\n </tr>\n \n\n \n\n \n\n \n\n \n <tr>\n <th scope=\"row\"><b>Title: </b></th>\n <td style=\"padding-left: 4px;\">Agilent SureSelect Human All Exon V7 Kit Protocol</td>\n </tr>\n \n\n \n\n \n\n \n\n \n <tr>\n <th scope=\"row\"><b>Type: </b></th>\n <td style=\"padding-left: 4px;\">\n \n \n \n <p style=\"margin-bottom: 5px;\">\n <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>\n </p>\n \n \n <p style=\"margin-bottom: 5px;\">\n <b>code: </b> <span>protocol</span>\n </p>\n \n \n <p style=\"margin-bottom: 5px;\">\n <b>display: </b> <span>Protocol</span>\n </p>\n \n \n \n \n </td>\n </tr>\n \n\n \n\n \n\n \n\n \n <tr>\n <th scope=\"row\"><b>Description: </b></th>\n <td style=\"padding-left: 4px;\"><div><p>Target enrichment protocol for whole exome sequencing covering 35.8 Mb of the human exome</p>\n</div></td>\n </tr>\n \n\n \n\n \n\n \n\n \n\n \n\n \n\n \n\n \n\n \n\n \n\n \n\n \n\n \n <tr>\n <th scope=\"row\"><b>Actions: </b></th>\n <td style=\"padding-left: 4px;\">\n <table class=\"grid-dict\">\n \n <tr>\n <td>\n \n <b> DNA Fragmentation:</b> Fragment genomic DNA to 150-200bp using Covaris\n \n <br/>\n \n \n \n \n \n </td>\n </tr>\n \n <tr>\n <td>\n \n <b> Library Preparation:</b> End repair, A-tailing, adapter ligation\n \n <br/>\n \n \n \n \n \n </td>\n </tr>\n \n <tr>\n <td>\n \n <b> Hybridization:</b> Hybridize with SureSelect baits for 24 hours at 65°C\n \n <br/>\n \n \n \n \n \n </td>\n </tr>\n \n <tr>\n <td>\n \n <b> Capture:</b> Streptavidin bead capture and washing\n \n <br/>\n \n \n \n \n \n </td>\n </tr>\n \n <tr>\n <td>\n \n <b> Amplification:</b> PCR amplification of captured library\n \n <br/>\n \n \n \n \n \n </td>\n </tr>\n \n </table>\n </td>\n </tr>\n \n </table>\n</div>\n</div></div>"
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"title": "Hybridization",
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"title": "Capture",
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{
"title": "Amplification",
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{
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"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><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></div>"
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{
"attachment": {
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{
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},
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{
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{
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"contentType": "application/gzip",
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{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/Procedure/mii-exa-molgen-genomic-study-comprehensive-wes-bundle",
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"text": {
"status": "extensions",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><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></div>"
},
"extension": [
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext",
"valueReference": {
"reference": "Procedure/mii-exa-molgen-genomic-study-analysis-wes-library-prep"
}
},
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext",
"valueReference": {
"reference": "Procedure/mii-exa-molgen-genomic-study-analysis-wes-sequencing"
}
},
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext",
"valueReference": {
"reference": "Procedure/mii-exa-molgen-genomic-study-analysis-wes-bioinformatics"
}
}
],
"status": "completed",
"category": {
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/observation-category",
"code": "laboratory"
}
]
},
"subject": {
"reference": "Patient/mii-exa-molgen-patient-wes"
}
},
"request": {
"method": "POST",
"url": "Procedure"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/Procedure/mii-exa-molgen-genomic-study-analysis-wes-library-prep-bundle",
"resource": {
"resourceType": "Procedure",
"id": "mii-exa-molgen-genomic-study-analysis-wes-library-prep-bundle",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-pr-molgen-genomic-study-analysis",
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genomic-study-analysis|2027.0.0-ballot.1"
]
},
"text": {
"status": "extensions",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><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></div>"
},
"extension": [
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-specimen",
"valueReference": {
"reference": "Specimen/mii-exa-molgen-specimen-blood-edta"
}
},
{
"extension": [
{
"url": "device",
"valueReference": {
"reference": "Device/mii-exa-molgen-device-thermofisher-ionchef"
}
}
],
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device"
},
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type",
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA26810-4",
"display": "DNA hybridization"
}
]
}
}
],
"status": "completed",
"category": {
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/observation-category",
"code": "laboratory"
}
]
},
"subject": {
"reference": "Patient/mii-exa-molgen-patient-wes"
}
},
"request": {
"method": "POST",
"url": "Procedure"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/Procedure/mii-exa-molgen-genomic-study-analysis-wes-sequencing-bundle",
"resource": {
"resourceType": "Procedure",
"id": "mii-exa-molgen-genomic-study-analysis-wes-sequencing-bundle",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-pr-molgen-genomic-study-analysis",
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genomic-study-analysis|2027.0.0-ballot.1"
]
},
"text": {
"status": "extensions",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><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></div>"
},
"extension": [
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-specimen",
"valueReference": {
"reference": "Specimen/mii-exa-molgen-specimen-dna-library"
}
},
{
"extension": [
{
"url": "device",
"valueReference": {
"reference": "Device/mii-exa-molgen-device-illumina-novaseq"
}
}
],
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device"
},
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type",
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA26398-0",
"display": "Sequencing"
}
]
}
}
],
"status": "completed",
"category": {
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/observation-category",
"code": "laboratory"
}
]
},
"subject": {
"reference": "Patient/mii-exa-molgen-patient-wes"
}
},
"request": {
"method": "POST",
"url": "Procedure"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/Procedure/mii-exa-molgen-genomic-study-analysis-wes-bioinformatics-bundle",
"resource": {
"resourceType": "Procedure",
"id": "mii-exa-molgen-genomic-study-analysis-wes-bioinformatics-bundle",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-pr-molgen-genomic-study-analysis",
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genomic-study-analysis|2027.0.0-ballot.1"
]
},
"text": {
"status": "extensions",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><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></div>"
},
"extension": [
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type",
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA26811-2",
"display": "Computational analysis"
}
]
}
}
],
"status": "completed",
"category": {
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/observation-category",
"code": "laboratory"
}
]
},
"subject": {
"reference": "Patient/mii-exa-molgen-patient-wes"
}
},
"request": {
"method": "POST",
"url": "Procedure"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/ServiceRequest/mii-exa-molgen-anforderung-wes-bundle",
"resource": {
"resourceType": "ServiceRequest",
"id": "mii-exa-molgen-anforderung-wes-bundle",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/anforderung-genetischer-test|2027.0.0-ballot.1"
]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><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></div>"
},
"status": "completed",
"intent": "order",
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "86205-2",
"display": "Whole exome sequence analysis in Blood or Tissue by Molecular genetics method"
}
]
},
"subject": {
"reference": "Patient/mii-exa-molgen-patient-wes"
},
"authoredOn": "2024-01-10",
"requester": {
"reference": "Practitioner/mii-exa-molgen-practitioner-bundle"
},
"reasonCode": [
{
"coding": [
{
"system": "http://snomed.info/sct",
"code": "110359009",
"display": "Intellectual disability (disorder)"
}
]
}
]
},
"request": {
"method": "POST",
"url": "ServiceRequest"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/Observation/mii-exa-molgen-variante-comprehensive-pathogenic-bundle",
"resource": {
"resourceType": "Observation",
"id": "mii-exa-molgen-variante-comprehensive-pathogenic-bundle",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante|2027.0.0-ballot.1"
]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><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></div>"
},
"status": "final",
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/observation-category",
"code": "laboratory",
"display": "Laboratory"
}
]
},
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0074",
"code": "GE"
}
]
}
],
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "69548-6",
"display": "Genetic variant assessment"
}
]
},
"subject": {
"reference": "Patient/mii-exa-molgen-patient-wes"
},
"effectiveDateTime": "2024-01-10",
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA9633-4",
"display": "Present"
}
]
},
"component": [
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org/geneId",
"code": "HGNC:7132",
"display": "KMT2A"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48004-6",
"display": "DNA change (c.HGVS)"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://varnomen.hgvs.org",
"code": "NM_005933.3:c.3463C>T",
"display": "NM_005933.3:c.3463C>T"
}
]
}
},
{
"code": {
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"display": "Amino acid change (pHGVS)"
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]
},
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{
"system": "http://varnomen.hgvs.org",
"code": "p.(Arg1155Ter)",
"display": "p.(Arg1155Ter)"
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]
},
"request": {
"method": "POST",
"url": "Observation"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/Observation/mii-exa-molgen-diagnostische-implikation-comprehensive-bundle",
"resource": {
"resourceType": "Observation",
"id": "mii-exa-molgen-diagnostische-implikation-comprehensive-bundle",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/diagnostische-implikation|2027.0.0-ballot.1"
]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><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></div>"
},
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{
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{
"system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
"code": "diagnostic-implication",
"display": "Diagnostic Implication"
}
]
},
"subject": {
"reference": "Patient/mii-exa-molgen-patient-wes"
},
"effectiveDateTime": "2024-01-10",
"derivedFrom": [
{
"reference": "Observation/mii-exa-molgen-variante-comprehensive-pathogenic"
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],
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{
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{
"system": "http://loinc.org",
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"coding": [
{
"system": "http://loinc.org",
"code": "LA6668-3",
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}
}
]
},
"request": {
"method": "POST",
"url": "Observation"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/Media/mii-exa-molgen-media-coverage-plot",
"resource": {
"resourceType": "Media",
"id": "mii-exa-molgen-media-coverage-plot",
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><a name=\"Media_mii-exa-molgen-media-coverage-plot\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Media mii-exa-molgen-media-coverage-plot</b></p><a name=\"mii-exa-molgen-media-coverage-plot\"> </a><a name=\"hcmii-exa-molgen-media-coverage-plot\"> </a><p><b>status</b>: Completed</p><p><b>type</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/media-type image}\">Image</span></p><p><b>subject</b>: <a href=\"Patient-mii-exa-molgen-patient.html\">Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))</a></p><p><b>created</b>: 2024-01-20 10:00:00+0100</p><h3>Contents</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>png</td><td><a href=\"https://simplifier.net/resolve?scope=de.basisprofil.r4@1.6.0&canonical=https://www.medizininformatik-initiative.de/fhir/plots/coverage_wes_2024001.png\">https://www.medizininformatik-initiative.de/fhir/plots/coverage_wes_2024001.png</a></td><td>Exome Coverage Distribution Plot</td></tr></table></div></div>"
},
"status": "completed",
"type": {
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/media-type",
"code": "image",
"display": "Image"
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]
},
"subject": {
"reference": "Patient/mii-exa-molgen-patient"
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"createdDateTime": "2024-01-20T10:00:00+01:00",
"content": {
"contentType": "image/png",
"url": "https://www.medizininformatik-initiative.de/fhir/plots/coverage_wes_2024001.png",
"title": "Exome Coverage Distribution Plot"
}
},
"request": {
"method": "POST",
"url": "Media"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/DiagnosticReport/mii-exa-molgen-befundbericht-comprehensive-wes-bundle",
"resource": {
"resourceType": "DiagnosticReport",
"id": "mii-exa-molgen-befundbericht-comprehensive-wes-bundle",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/molekulargenetischer-befundbericht|2027.0.0-ballot.1",
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report|3.0.0"
]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><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></div>"
},
"extension": [
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-reference",
"valueReference": {
"reference": "Procedure/mii-exa-molgen-genomic-study-comprehensive-wes"
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}
],
"basedOn": [
{
"reference": "ServiceRequest/mii-exa-molgen-anforderung-wes"
}
],
"status": "final",
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0074",
"code": "GE",
"display": "Genetics"
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}
],
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"coding": [
{
"system": "http://loinc.org",
"code": "51969-4",
"display": "Genetic analysis report"
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},
"subject": {
"reference": "Patient/mii-exa-molgen-patient-wes"
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"performer": [
{
"reference": "Practitioner/mii-exa-molgen-practitioner-lab"
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],
"specimen": [
{
"reference": "Specimen/mii-exa-molgen-specimen-blood-edta"
}
],
"result": [
{
"reference": "Observation/mii-exa-molgen-variante-comprehensive-pathogenic"
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{
"reference": "Observation/mii-exa-molgen-diagnostische-implikation-comprehensive"
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],
"media": [
{
"comment": "Coverage plot showing uniform coverage across all exons",
"link": {
"reference": "Media/mii-exa-molgen-media-coverage-plot"
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}
],
"conclusion": "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.",
"conclusionCode": [
{
"coding": [
{
"system": "http://loinc.org",
"code": "LA6576-8",
"display": "Positive"
}
]
}
]
},
"request": {
"method": "POST",
"url": "DiagnosticReport"
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},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/Practitioner/mii-exa-molgen-practitioner-bundle",
"resource": {
"resourceType": "Practitioner",
"id": "mii-exa-molgen-practitioner-bundle",
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><a name=\"Practitioner_mii-exa-molgen-practitioner-bundle\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Practitioner mii-exa-molgen-practitioner-bundle</b></p><a name=\"mii-exa-molgen-practitioner-bundle\"> </a><a name=\"hcmii-exa-molgen-practitioner-bundle\"> </a><p><b>identifier</b>: <code>https://www.medizininformatik-initiative.de/fhir/sid/practitioner-ids</code>/12345</p><p><b>name</b>: Anna Schmidt </p></div></div>"
},
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{
"system": "https://www.medizininformatik-initiative.de/fhir/sid/practitioner-ids",
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],
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"family": "Schmidt",
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"Anna"
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"Dr."
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},
"request": {
"method": "POST",
"url": "Practitioner"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/Practitioner/mii-exa-molgen-practitioner-lab-bundle",
"resource": {
"resourceType": "Practitioner",
"id": "mii-exa-molgen-practitioner-lab-bundle",
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><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></div>"
},
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{
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"value": "67890"
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],
"name": [
{
"family": "Weber",
"given": [
"Thomas"
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"prefix": [
"Dr."
]
}
]
},
"request": {
"method": "POST",
"url": "Practitioner"
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