MII-Initiative

MII IG Molekulares Tumorboard DE v2025

NGS-Bericht: DiagnosticReport


Inhalt

Dieses Profil beschreibt den NGS-Bericht, welcher auf Patient und Probe verweist und mehrere Observations als result-Elemente beinhaltet.


Verknüpfungen zu anderen Ressourcen


Zeitliche Zuordnung im Verlauf

NameStatusVersionCanonicalBasis
MII_PR_MTB_NGS_Berichtdraft2024.0.0-ballothttps://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-ngs-berichthttp://hl7.org/fhir/StructureDefinition/DiagnosticReport

Inhalt

idΣ0..1string
metaS Σ0..1Meta
implicitRulesΣ ?!0..1uri
language0..1codeBinding
text0..1Narrative
contained0..*Resource
MetadatenS I0..1Extension(Reference())
QCS I0..1Extension(Reference())
modifierExtension?! I0..*Extension
identifierΣ0..*Identifier
basedOn0..*Reference(CarePlan | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)
statusΣ ?!1..1codeBinding
categoryΣ0..*CodeableConcept
codeΣ1..1CodeableConceptBinding
subjectS Σ0..1Reference(Patient)
encounterΣ0..1Reference(Encounter)
effectiveDateTimedateTime
effectivePeriodPeriod
issuedS Σ0..1instant
performerΣ0..*Reference(Practitioner | PractitionerRole | Organization | CareTeam)
resultsInterpreterΣ0..*Reference(Practitioner | PractitionerRole | Organization | CareTeam)
specimenS0..*Reference(MII_PR_Onko_Specimen | MII_PR_Patho_Specimen | | Specimen)
TumorMutionalBurdenS0..1Reference(Observation)
MicroSatelliteInstabilitiesS0..1Reference(Observation)
PloidieS0..1Reference(Observation)
HRDScoreS0..1Reference(MII_PR_MTB_HRD_Score)
BRCAnessS0..1Reference(MII_PR_MTB_BRCAness)
EinfacheVarianteS0..1Reference(MII_PR_MTB_Einfache_Variante)
CopyNumberVariantS0..1Reference(MII_PR_MTB_Copy_Number_Variant)
DNAFusionS0..1Reference(MII_PR_MTB_DNA_Fusion)
RNAFusionS0..1Reference(MII_PR_MTB_RNA_Fusion)
RNASeqS0..1Reference(MII_PR_MTB_RNA_Seq)
imagingStudy0..*Reference(ImagingStudy)
id0..1string
extensionI0..*Extension
modifierExtensionΣ ?! I0..*Extension
comment0..1string
conclusion0..1string
conclusionCode0..*CodeableConcept
presentedForm0..*Attachment

NGS-Bericht zu einer Probe

FeldnameKurzbeschreibung
DiagnosticReport.meta
DiagnosticReport.extension:MetadatenQC
DiagnosticReport.extension:QC
DiagnosticReport.subjectReferenz auf Patient
DiagnosticReport.issuedErstellungsdatum
DiagnosticReport.specimenReferenz auf Probe
DiagnosticReport.result:TumorMutionalBurdenTumor Mutational Burden
DiagnosticReport.result:MicroSatelliteInstabilitiesMicro-Satellite Instabilities
DiagnosticReport.result:PloidiePloidie
DiagnosticReport.result:HRDScoreHRD-Score
DiagnosticReport.result:BRCAnessBRCAness
DiagnosticReport.result:EinfacheVarianteEinfache Variante
DiagnosticReport.result:CopyNumberVariantCopy Number Variant
DiagnosticReport.result:DNAFusionDNA-Fusion
DiagnosticReport.result:RNAFusionRNA-Fusion
DiagnosticReport.result:RNASeqRNASeq
<StructureDefinition xmlns="http://hl7.org/fhir">
    <id value="mii-pr-mtb-ngs-bericht" />
    <url value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-ngs-bericht" />
    <version value="2024.0.0-ballot" />
    <name value="MII_PR_MTB_NGS_Bericht" />
    <title value="MII PR MTB NGS-Bericht" />
    <status value="draft" />
    <publisher value="Medizininformatik Initiative" />
    <contact>
        <telecom>
            <system value="url" />
            <value value="https://www.medizininformatik-initiative.de" />
        </telecom>
    </contact>
    <description value="NGS-Bericht zu einer Probe" />
    <fhirVersion value="4.0.1" />
    <kind value="resource" />
    <abstract value="false" />
    <type value="DiagnosticReport" />
    <baseDefinition value="http://hl7.org/fhir/StructureDefinition/DiagnosticReport" />
    <derivation value="constraint" />
    <differential>
        <element id="DiagnosticReport.meta">
            <path value="DiagnosticReport.meta" />
            <mustSupport value="true" />
        </element>
        <element id="DiagnosticReport.extension:Metadaten">
            <path value="DiagnosticReport.extension" />
            <sliceName value="Metadaten" />
            <short value="QC" />
            <min value="0" />
            <max value="1" />
            <type>
                <code value="Extension" />
                <profile value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-ex-mtb-ngs-bericht-metadaten" />
            </type>
            <mustSupport value="true" />
        </element>
        <element id="DiagnosticReport.extension:QC">
            <path value="DiagnosticReport.extension" />
            <sliceName value="QC" />
            <min value="0" />
            <max value="1" />
            <type>
                <code value="Extension" />
                <profile value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-ex-mtb-ngs-bericht-qc" />
            </type>
            <mustSupport value="true" />
        </element>
        <element id="DiagnosticReport.subject">
            <path value="DiagnosticReport.subject" />
            <short value="Referenz auf Patient" />
            <type>
                <code value="Reference" />
                <targetProfile value="http://hl7.org/fhir/StructureDefinition/Patient" />
            </type>
            <mustSupport value="true" />
        </element>
        <element id="DiagnosticReport.issued">
            <path value="DiagnosticReport.issued" />
            <short value="Erstellungsdatum" />
            <mustSupport value="true" />
        </element>
        <element id="DiagnosticReport.specimen">
            <path value="DiagnosticReport.specimen" />
            <short value="Referenz auf Probe" />
            <type>
                <code value="Reference" />
                <targetProfile value="https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/StructureDefinition/mii-pr-onko-specimen" />
                <targetProfile value="https://www.medizininformatik-initiative.de/fhir/ext/modul-patho/StructureDefinition/mii-pr-patho-specimen" />
                <targetProfile value="https://www.medizininformatik-initiative.de/fhir/ext/modul-biobank/StructureDefinition/Specimen" />
                <targetProfile value="http://hl7.org/fhir/StructureDefinition/Specimen" />
            </type>
            <mustSupport value="true" />
        </element>
        <element id="DiagnosticReport.result">
            <path value="DiagnosticReport.result" />
            <slicing>
                <discriminator>
                    <type value="type" />
                    <path value="reference.reference" />
                </discriminator>
                <description value="Slice f&#252;r Varianten &amp; Biomarker des NGS-Berichts" />
                <ordered value="false" />
                <rules value="open" />
            </slicing>
        </element>
        <element id="DiagnosticReport.result:TumorMutionalBurden">
            <path value="DiagnosticReport.result" />
            <sliceName value="TumorMutionalBurden" />
            <short value="Tumor Mutational Burden" />
            <definition value="Verweis auf Tumor Mutational Burden" />
            <min value="0" />
            <max value="1" />
            <mustSupport value="true" />
        </element>
        <element id="DiagnosticReport.result:MicroSatelliteInstabilities">
            <path value="DiagnosticReport.result" />
            <sliceName value="MicroSatelliteInstabilities" />
            <short value="Micro-Satellite Instabilities" />
            <definition value="Verweis auf Micro-Satellite Instabilities" />
            <min value="0" />
            <max value="1" />
            <mustSupport value="true" />
        </element>
        <element id="DiagnosticReport.result:Ploidie">
            <path value="DiagnosticReport.result" />
            <sliceName value="Ploidie" />
            <short value="Ploidie" />
            <definition value="Ploidie" />
            <min value="0" />
            <max value="1" />
            <mustSupport value="true" />
        </element>
        <element id="DiagnosticReport.result:HRDScore">
            <path value="DiagnosticReport.result" />
            <sliceName value="HRDScore" />
            <short value="HRD-Score" />
            <definition value="Verweis auf HRD-Score" />
            <min value="0" />
            <max value="1" />
            <type>
                <code value="Reference" />
                <targetProfile value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-hrd-score" />
            </type>
            <mustSupport value="true" />
        </element>
        <element id="DiagnosticReport.result:BRCAness">
            <path value="DiagnosticReport.result" />
            <sliceName value="BRCAness" />
            <short value="BRCAness" />
            <definition value="Verweis auf BRCAness" />
            <min value="0" />
            <max value="1" />
            <type>
                <code value="Reference" />
                <targetProfile value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-brcaness" />
            </type>
            <mustSupport value="true" />
        </element>
        <element id="DiagnosticReport.result:EinfacheVariante">
            <path value="DiagnosticReport.result" />
            <sliceName value="EinfacheVariante" />
            <short value="Einfache Variante" />
            <definition value="Verweis auf Einfache Variante" />
            <min value="0" />
            <max value="1" />
            <type>
                <code value="Reference" />
                <targetProfile value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-einfache-variante" />
            </type>
            <mustSupport value="true" />
        </element>
        <element id="DiagnosticReport.result:CopyNumberVariant">
            <path value="DiagnosticReport.result" />
            <sliceName value="CopyNumberVariant" />
            <short value="Copy Number Variant" />
            <definition value="Verweis auf Copy Number Variant" />
            <min value="0" />
            <max value="1" />
            <type>
                <code value="Reference" />
                <targetProfile value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-copy-number-variant" />
            </type>
            <mustSupport value="true" />
        </element>
        <element id="DiagnosticReport.result:DNAFusion">
            <path value="DiagnosticReport.result" />
            <sliceName value="DNAFusion" />
            <short value="DNA-Fusion" />
            <definition value="Verweis auf DNA-Fusion" />
            <min value="0" />
            <max value="1" />
            <type>
                <code value="Reference" />
                <targetProfile value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-dna-fusion" />
            </type>
            <mustSupport value="true" />
        </element>
        <element id="DiagnosticReport.result:RNAFusion">
            <path value="DiagnosticReport.result" />
            <sliceName value="RNAFusion" />
            <short value="RNA-Fusion" />
            <definition value="Verweis auf RNA-Fusion" />
            <min value="0" />
            <max value="1" />
            <type>
                <code value="Reference" />
                <targetProfile value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-rna-fusion" />
            </type>
            <mustSupport value="true" />
        </element>
        <element id="DiagnosticReport.result:RNASeq">
            <path value="DiagnosticReport.result" />
            <sliceName value="RNASeq" />
            <short value="RNASeq" />
            <definition value="Verweis auf RNASeq" />
            <min value="0" />
            <max value="1" />
            <type>
                <code value="Reference" />
                <targetProfile value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-rna-seq" />
            </type>
            <mustSupport value="true" />
        </element>
    </differential>
</StructureDefinition>
{
    "resourceType": "StructureDefinition",
    "id": "mii-pr-mtb-ngs-bericht",
    "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-ngs-bericht",
    "version": "2024.0.0-ballot",
    "name": "MII_PR_MTB_NGS_Bericht",
    "title": "MII PR MTB NGS-Bericht",
    "status": "draft",
    "publisher": "Medizininformatik Initiative",
    "contact":  [
        {
            "telecom":  [
                {
                    "system": "url",
                    "value": "https://www.medizininformatik-initiative.de"
                }
            ]
        }
    ],
    "description": "NGS-Bericht zu einer Probe",
    "fhirVersion": "4.0.1",
    "kind": "resource",
    "abstract": false,
    "type": "DiagnosticReport",
    "baseDefinition": "http://hl7.org/fhir/StructureDefinition/DiagnosticReport",
    "derivation": "constraint",
    "differential": {
        "element":  [
            {
                "id": "DiagnosticReport.meta",
                "path": "DiagnosticReport.meta",
                "mustSupport": true
            },
            {
                "id": "DiagnosticReport.extension:Metadaten",
                "path": "DiagnosticReport.extension",
                "sliceName": "Metadaten",
                "short": "QC",
                "min": 0,
                "max": "1",
                "type":  [
                    {
                        "code": "Extension",
                        "profile":  [
                            "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-ex-mtb-ngs-bericht-metadaten"
                        ]
                    }
                ],
                "mustSupport": true
            },
            {
                "id": "DiagnosticReport.extension:QC",
                "path": "DiagnosticReport.extension",
                "sliceName": "QC",
                "min": 0,
                "max": "1",
                "type":  [
                    {
                        "code": "Extension",
                        "profile":  [
                            "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-ex-mtb-ngs-bericht-qc"
                        ]
                    }
                ],
                "mustSupport": true
            },
            {
                "id": "DiagnosticReport.subject",
                "path": "DiagnosticReport.subject",
                "short": "Referenz auf Patient",
                "type":  [
                    {
                        "code": "Reference",
                        "targetProfile":  [
                            "http://hl7.org/fhir/StructureDefinition/Patient"
                        ]
                    }
                ],
                "mustSupport": true
            },
            {
                "id": "DiagnosticReport.issued",
                "path": "DiagnosticReport.issued",
                "short": "Erstellungsdatum",
                "mustSupport": true
            },
            {
                "id": "DiagnosticReport.specimen",
                "path": "DiagnosticReport.specimen",
                "short": "Referenz auf Probe",
                "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"
                        ]
                    }
                ],
                "mustSupport": true
            },
            {
                "id": "DiagnosticReport.result",
                "path": "DiagnosticReport.result",
                "slicing": {
                    "discriminator":  [
                        {
                            "type": "type",
                            "path": "reference.reference"
                        }
                    ],
                    "rules": "open",
                    "description": "Slice für Varianten & Biomarker des NGS-Berichts",
                    "ordered": false
                }
            },
            {
                "id": "DiagnosticReport.result:TumorMutionalBurden",
                "path": "DiagnosticReport.result",
                "sliceName": "TumorMutionalBurden",
                "short": "Tumor Mutational Burden",
                "definition": "Verweis auf Tumor Mutational Burden",
                "min": 0,
                "max": "1",
                "mustSupport": true
            },
            {
                "id": "DiagnosticReport.result:MicroSatelliteInstabilities",
                "path": "DiagnosticReport.result",
                "sliceName": "MicroSatelliteInstabilities",
                "short": "Micro-Satellite Instabilities",
                "definition": "Verweis auf Micro-Satellite Instabilities",
                "min": 0,
                "max": "1",
                "mustSupport": true
            },
            {
                "id": "DiagnosticReport.result:Ploidie",
                "path": "DiagnosticReport.result",
                "sliceName": "Ploidie",
                "short": "Ploidie",
                "definition": "Ploidie",
                "min": 0,
                "max": "1",
                "mustSupport": true
            },
            {
                "id": "DiagnosticReport.result:HRDScore",
                "path": "DiagnosticReport.result",
                "sliceName": "HRDScore",
                "short": "HRD-Score",
                "definition": "Verweis auf HRD-Score",
                "min": 0,
                "max": "1",
                "type":  [
                    {
                        "code": "Reference",
                        "targetProfile":  [
                            "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-hrd-score"
                        ]
                    }
                ],
                "mustSupport": true
            },
            {
                "id": "DiagnosticReport.result:BRCAness",
                "path": "DiagnosticReport.result",
                "sliceName": "BRCAness",
                "short": "BRCAness",
                "definition": "Verweis auf BRCAness",
                "min": 0,
                "max": "1",
                "type":  [
                    {
                        "code": "Reference",
                        "targetProfile":  [
                            "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-brcaness"
                        ]
                    }
                ],
                "mustSupport": true
            },
            {
                "id": "DiagnosticReport.result:EinfacheVariante",
                "path": "DiagnosticReport.result",
                "sliceName": "EinfacheVariante",
                "short": "Einfache Variante",
                "definition": "Verweis auf Einfache Variante",
                "min": 0,
                "max": "1",
                "type":  [
                    {
                        "code": "Reference",
                        "targetProfile":  [
                            "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-einfache-variante"
                        ]
                    }
                ],
                "mustSupport": true
            },
            {
                "id": "DiagnosticReport.result:CopyNumberVariant",
                "path": "DiagnosticReport.result",
                "sliceName": "CopyNumberVariant",
                "short": "Copy Number Variant",
                "definition": "Verweis auf Copy Number Variant",
                "min": 0,
                "max": "1",
                "type":  [
                    {
                        "code": "Reference",
                        "targetProfile":  [
                            "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-copy-number-variant"
                        ]
                    }
                ],
                "mustSupport": true
            },
            {
                "id": "DiagnosticReport.result:DNAFusion",
                "path": "DiagnosticReport.result",
                "sliceName": "DNAFusion",
                "short": "DNA-Fusion",
                "definition": "Verweis auf DNA-Fusion",
                "min": 0,
                "max": "1",
                "type":  [
                    {
                        "code": "Reference",
                        "targetProfile":  [
                            "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-dna-fusion"
                        ]
                    }
                ],
                "mustSupport": true
            },
            {
                "id": "DiagnosticReport.result:RNAFusion",
                "path": "DiagnosticReport.result",
                "sliceName": "RNAFusion",
                "short": "RNA-Fusion",
                "definition": "Verweis auf RNA-Fusion",
                "min": 0,
                "max": "1",
                "type":  [
                    {
                        "code": "Reference",
                        "targetProfile":  [
                            "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-rna-fusion"
                        ]
                    }
                ],
                "mustSupport": true
            },
            {
                "id": "DiagnosticReport.result:RNASeq",
                "path": "DiagnosticReport.result",
                "sliceName": "RNASeq",
                "short": "RNASeq",
                "definition": "Verweis auf RNASeq",
                "min": 0,
                "max": "1",
                "type":  [
                    {
                        "code": "Reference",
                        "targetProfile":  [
                            "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-rna-seq"
                        ]
                    }
                ],
                "mustSupport": true
            }
        ]
    }
}

Mapping Datensatz zu FHIR

DatensatzErklaerungFHIR
Verweis auf NGS Bericht

Verweis auf Next Generation Sequencing Bericht

ClinicalImpression.investigation.item:Reference(DiagnosticReport)
NGS-Bericht

NGS-Bericht

DiagnosticReport
Erstellungsdatum

Erstellungsdatum für den NGS-Bericht

DiagnosticReport.issued
Probe

Referenz zur zugehörigen Probe

DiagnosticReport.specimen

Suchparameter

Folgende Suchparameter sind für das Modul Onkologie relevant, auch in Kombination:

  1. Der Suchparameter "_id" MUSS unterstützt werden:

    Beispiele:

    GET [base]/CarePlan?_id=12345

    Anwendungshinweise: Weitere Informationen zur Suche nach "_id" finden sich in der FHIR-Basisspezifikation - Abschnitt "Parameters for all resources".


Beispiele