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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{
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{
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"text" : {
"status" : "generated",
"div" : "<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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{
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{
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"display" : "Saliva specimen"
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"text" : "DNA Library"
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"reference" : "Patient/mii-exa-molgen-patient-wes"
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🔗 "reference" : "Specimen/mii-exa-molgen-specimen-blood-edta"
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"timeDateTime" : "2024-01-16T14:00:00+01:00"
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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",
"language" : "en",
"text" : {
"status" : "extensions",
"div" : "<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>"
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"title" : "Capture",
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},
{
"title" : "Amplification",
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},
"request" : {
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},
{
"fullUrl" : "https://www.medizininformatik-initiative.de/fhir/DocumentReference/mii-exa-molgen-documentreference-bed-file-bundle",
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{
"attachment" : {
"contentType" : "text/plain",
"url" : "https://www.medizininformatik-initiative.de/fhir/files/agilent_v7_targets.bed",
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}
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{
"fullUrl" : "https://www.medizininformatik-initiative.de/fhir/DocumentReference/mii-exa-molgen-documentreference-fastq-bundle",
"resource" : {
"resourceType" : "DocumentReference",
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},
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"reference" : "Patient/mii-exa-molgen-patient-wes"
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{
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🔗 "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-pr-molgen-genomic-study",
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genomic-study|2027.0.0-ballot.1"
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"text" : {
"status" : "extensions",
"div" : "<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>"
},
"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"
]
},
"language" : "en",
"text" : {
"status" : "extensions",
"div" : "<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>"
},
"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"
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]
}
}
],
"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"
]
},
"language" : "en",
"text" : {
"status" : "extensions",
"div" : "<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>"
},
"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"
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]
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}
],
"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"
]
},
"language" : "en",
"text" : {
"status" : "extensions",
"div" : "<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>"
},
"extension" : [
{
"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "LA26811-2",
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}
]
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}
],
"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"
]
},
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<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>"
},
"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"
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},
{
"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"
]
},
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<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>"
},
"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"
}
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],
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "69548-6",
"display" : "Genetic variant assessment"
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]
},
"subject" : {
"reference" : "Patient/mii-exa-molgen-patient-wes"
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"effectiveDateTime" : "2024-01-10",
"valueCodeableConcept" : {
"coding" : [
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"code" : "LA9633-4",
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},
"component" : [
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "48018-6",
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"valueCodeableConcept" : {
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