{ "description": "NGS-Bericht zu einer Probe", "_filename": "StructureDefinition-mii-pr-mtb-ngs-bericht.json", "package_name": "de.medizininformatikinitiative.kerndatensatz.mtb", "date": null, "derivation": "constraint", "publisher": "Medizininformatik Initiative", "fhirVersion": "4.0.1", "name": "MII_PR_MTB_NGS_Bericht", "abstract": false, "type": "DiagnosticReport", "experimental": null, "resourceType": "StructureDefinition", "title": "MII PR MTB NGS-Bericht", "package_version": "2025.0.0-ballot-alpha.1", "status": "draft", "id": "c4bfe2f3-7b94-44dc-8733-334137bae505", "kind": "resource", "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-ngs-bericht", "version": "2024.0.0-ballot", "differential": { "element": [ { "id": "DiagnosticReport.meta", "path": "DiagnosticReport.meta", "mustSupport": true }, { "id": "DiagnosticReport.extension", "path": "DiagnosticReport.extension", "slicing": { "rules": "open", "ordered": false, "discriminator": [ { "path": "url", "type": "value" } ] } }, { "id": "DiagnosticReport.extension:Metadaten", "max": "1", "min": 0, "path": "DiagnosticReport.extension", "type": [ { "code": "Extension", "profile": [ "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-ex-mtb-ngs-bericht-metadaten" ] } ], "short": "QC", "sliceName": "Metadaten", "mustSupport": true }, { "id": "DiagnosticReport.extension:QC", "max": "1", "min": 0, "path": "DiagnosticReport.extension", "type": [ { "code": "Extension", "profile": [ "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-ex-mtb-ngs-bericht-qc" ] } ], "sliceName": "QC", "mustSupport": true }, { "id": "DiagnosticReport.subject", "path": "DiagnosticReport.subject", "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/StructureDefinition/Patient" ] } ], "short": "Referenz auf Patient", "mustSupport": true }, { "id": "DiagnosticReport.issued", "path": "DiagnosticReport.issued", "short": "Erstellungsdatum", "mustSupport": true }, { "id": "DiagnosticReport.specimen", "path": "DiagnosticReport.specimen", "type": [ { "code": "Reference", "targetProfile": [ "https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/StructureDefinition/mii-pr-onko-specimen", "https://www.medizininformatik-initiative.de/fhir/ext/modul-patho/StructureDefinition/mii-pr-patho-specimen", "https://www.medizininformatik-initiative.de/fhir/ext/modul-biobank/StructureDefinition/Specimen", "http://hl7.org/fhir/StructureDefinition/Specimen" ] } ], "short": "Referenz auf Probe", "mustSupport": true }, { "id": "DiagnosticReport.result", "path": "DiagnosticReport.result", "slicing": { "rules": "open", "ordered": false, "description": "Slice für Varianten & Biomarker des NGS-Berichts", "discriminator": [ { "path": "reference.reference", "type": "type" } ] } }, { "id": "DiagnosticReport.result:TumorMutionalBurden", "max": "1", "min": 0, "path": "DiagnosticReport.result", "short": "Tumor Mutational Burden", "sliceName": "TumorMutionalBurden", "definition": "Verweis auf Tumor Mutational Burden", "mustSupport": true }, { "id": "DiagnosticReport.result:MicroSatelliteInstabilities", "max": "1", "min": 0, "path": "DiagnosticReport.result", "short": "Micro-Satellite Instabilities", "sliceName": "MicroSatelliteInstabilities", "definition": "Verweis auf Micro-Satellite Instabilities", "mustSupport": true }, { "id": "DiagnosticReport.result:Ploidie", "max": "1", "min": 0, "path": "DiagnosticReport.result", "short": "Ploidie", "sliceName": "Ploidie", "definition": "Ploidie", "mustSupport": true }, { "path": "DiagnosticReport.result", "min": 0, "definition": "Verweis auf HRD-Score", "short": "HRD-Score", "type": [ { "code": "Reference", "targetProfile": [ "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-hrd-score" ] } ], "mustSupport": true, "sliceName": "HRDScore", "max": "1", "id": "DiagnosticReport.result:HRDScore" }, { "path": "DiagnosticReport.result", "min": 0, "definition": "Verweis auf BRCAness", "short": "BRCAness", "type": [ { "code": "Reference", "targetProfile": [ "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-brcaness" ] } ], "mustSupport": true, "sliceName": "BRCAness", "max": "1", "id": "DiagnosticReport.result:BRCAness" }, { "path": "DiagnosticReport.result", "min": 0, "definition": "Verweis auf Einfache Variante", "short": "Einfache Variante", "type": [ { "code": "Reference", "targetProfile": [ "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-einfache-variante" ] } ], "mustSupport": true, "sliceName": "EinfacheVariante", "max": "1", "id": "DiagnosticReport.result:EinfacheVariante" }, { "path": "DiagnosticReport.result", "min": 0, "definition": "Verweis auf Copy Number Variant", "short": "Copy Number Variant", "type": [ { "code": "Reference", "targetProfile": [ "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-copy-number-variant" ] } ], "mustSupport": true, "sliceName": "CopyNumberVariant", "max": "1", "id": "DiagnosticReport.result:CopyNumberVariant" }, { "path": "DiagnosticReport.result", "min": 0, "definition": "Verweis auf DNA-Fusion", "short": "DNA-Fusion", "type": [ { "code": "Reference", "targetProfile": [ "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-dna-fusion" ] } ], "mustSupport": true, "sliceName": "DNAFusion", "max": "1", "id": "DiagnosticReport.result:DNAFusion" }, { "path": "DiagnosticReport.result", "min": 0, "definition": "Verweis auf RNA-Fusion", "short": "RNA-Fusion", "type": [ { "code": "Reference", "targetProfile": [ "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-rna-fusion" ] } ], "mustSupport": true, "sliceName": "RNAFusion", "max": "1", "id": "DiagnosticReport.result:RNAFusion" }, { "path": "DiagnosticReport.result", "min": 0, "definition": "Verweis auf RNASeq", "short": "RNASeq", "type": [ { "code": "Reference", "targetProfile": [ "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-rna-seq" ] } ], "mustSupport": true, "sliceName": "RNASeq", "max": "1", "id": "DiagnosticReport.result:RNASeq" } ] }, "contact": [ { "telecom": [ { "value": "https://www.medizininformatik-initiative.de", "system": "url" } ] } ], "baseDefinition": "http://hl7.org/fhir/StructureDefinition/DiagnosticReport" }