MII Implementierungsleitfaden 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
{
"resourceType" : "Procedure",
"id" : "mii-exa-molgen-genomic-study-analysis-tso500-libprep",
"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" : "de",
"text" : {
"status" : "extensions",
"div" : "<div xml:lang=\"de\" lang=\"de\"><hr/><p><b>German</b></p><hr/><p class=\"res-header-id\"><b>Generated Narrative: Procedure mii-exa-molgen-genomic-study-analysis-tso500-libprep</b></p><a name=\"de-mii-exa-molgen-genomic-study-analysis-tso500-libprep\"> </a><a name=\"de-hcmii-exa-molgen-genomic-study-analysis-tso500-libprep\"> </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-ffpe-tumor.html\">Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#specimen_tso500_ffpe_01; status = available; type = Formalin-fixed paraffin-embedded tissue specimen; receivedTime = 2024-05-16 09:20:00+0200</a></p><blockquote><p><b>Genomic Study Analysis Device</b></p><ul><li>device: <a href=\"Device-mii-exa-molgen-device-tso500-lot.html\">Device: identifier = https://www.medizininformatik-initiative.de/fhir/sid/lab-devices#TSO500v2-LOT-20240518-A; status = active; manufacturer = Illumina Inc.; expirationDate = 2026-12-31; lotNumber = 20240518-A; modelNumber = 20130527; type = </a></li><li>function: <span title=\"Codes:{http://loinc.org LA26810-4}\">DNA hybridization</span></li></ul></blockquote><p><b>Genomic Study Analysis Method Type</b>: <span title=\"Codes:{http://loinc.org LA26810-4}\">DNA hybridization</span></p><blockquote><p><b>Genomic Study Analysis Regions</b></p><ul><li>description: TSO500 v2 Panel: 523 Gene für SNV/Indel, 59 für CNV, 23 für DNA-Rearrangements, 55 Gene für RNA-Fusionen/Splice-Varianten; integrierte Biomarker TMB/MSI/HRD. Unten repräsentatives, NSCLC-relevantes Subset; vollständige Genliste siehe DeviceDefinition mii-exa-molgen-devicedef-tso500</li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:3236}\">EGFR</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:6407}\">KRAS</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:1097}\">BRAF</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:7989}\">NRAS</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:427}\">ALK</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:10261}\">ROS1</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:7029}\">MET</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:9967}\">RET</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:11998}\">TP53</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:8975}\">PIK3CA</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:3430}\">ERBB2</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:3689}\">FGFR2</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:3690}\">FGFR3</span></li></ul></blockquote><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=\"Patient-mii-exa-molgen-patient.html\">Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Krankenaktennummer\u00a0(use:\u00a0usual,\u00a0))</a></p></div>"
},
"extension" : [
{
"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-specimen",
"valueReference" : {
🔗 "reference" : "Specimen/mii-exa-molgen-specimen-ffpe-tumor"
}
},
{
"extension" : [
{
"url" : "device",
"valueReference" : {
🔗 "reference" : "Device/mii-exa-molgen-device-tso500-lot"
}
},
{
"url" : "function",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "LA26810-4",
"display" : "DNA hybridization"
}
]
}
}
],
"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"
}
]
}
},
{
"extension" : [
{
"url" : "description",
"valueString" : "TSO500 v2 Panel: 523 Gene für SNV/Indel, 59 für CNV, 23 für DNA-Rearrangements, 55 Gene für RNA-Fusionen/Splice-Varianten; integrierte Biomarker TMB/MSI/HRD. Unten repräsentatives, NSCLC-relevantes Subset; vollständige Genliste siehe DeviceDefinition mii-exa-molgen-devicedef-tso500"
},
{
"url" : "studied",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.genenames.org/geneId",
"code" : "HGNC:3236",
"display" : "EGFR"
}
]
}
},
{
"url" : "studied",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.genenames.org/geneId",
"code" : "HGNC:6407",
"display" : "KRAS"
}
]
}
},
{
"url" : "studied",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.genenames.org/geneId",
"code" : "HGNC:1097",
"display" : "BRAF"
}
]
}
},
{
"url" : "studied",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.genenames.org/geneId",
"code" : "HGNC:7989",
"display" : "NRAS"
}
]
}
},
{
"url" : "studied",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.genenames.org/geneId",
"code" : "HGNC:427",
"display" : "ALK"
}
]
}
},
{
"url" : "studied",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.genenames.org/geneId",
"code" : "HGNC:10261",
"display" : "ROS1"
}
]
}
},
{
"url" : "studied",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.genenames.org/geneId",
"code" : "HGNC:7029",
"display" : "MET"
}
]
}
},
{
"url" : "studied",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.genenames.org/geneId",
"code" : "HGNC:9967",
"display" : "RET"
}
]
}
},
{
"url" : "studied",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.genenames.org/geneId",
"code" : "HGNC:11998",
"display" : "TP53"
}
]
}
},
{
"url" : "studied",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.genenames.org/geneId",
"code" : "HGNC:8975",
"display" : "PIK3CA"
}
]
}
},
{
"url" : "studied",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.genenames.org/geneId",
"code" : "HGNC:3430",
"display" : "ERBB2"
}
]
}
},
{
"url" : "studied",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.genenames.org/geneId",
"code" : "HGNC:3689",
"display" : "FGFR2"
}
]
}
},
{
"url" : "studied",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://www.genenames.org/geneId",
"code" : "HGNC:3690",
"display" : "FGFR3"
}
]
}
}
],
"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions"
}
],
"status" : "completed",
"category" : {
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
}
]
},
"subject" : {
🔗 "reference" : "Patient/mii-exa-molgen-patient"
}
}