MII-Initiative

MII IG Molekulares Tumorboard DE v2025

MII IG Modul Molekulares Tumorboard
TODOs
Beschreibung Modul 'Molekulares Tumorboard'
Kontext im Gesamtprojekt / Bezüge zu anderen Modulen
Referenzen
Technische Implementierung
FHIR Profile
FHIR-Profil (Ressourcentyp)
NGS-Bericht
NGS-Bericht: DiagnosticReport
Genomic Study
Genomic Study: Procedure
Genomics Study Analysis: Procedure
CapabilityStatement
Terminologien
Hinweis Template

Genomics Study Analysis: Procedure

Inhalt

Dieses Profil beschreibt die Genomics Study Analysis.

Verknüpfungen zu anderen Ressourcen

Zeitliche Zuordnung im Verlauf

NameStatusVersionCanonicalBasis
MII_PR_MTB_Genomic_Study_Analysisdraft2024.0.0-ballothttps://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/genomic-study-analysishttp://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis

Inhalt

Die Genomic Data analysis beschreibt die Methodik einer bestimmten molekulargenetischen Untersuchung.

Feldname
Procedure.meta
Procedure.meta.profile
Procedure.extension
Procedure.extension:method-type
Procedure.extension:genome-build
Procedure.extension:focus
Procedure.extension:specimen
Procedure.extension:device
Procedure.identifier
Procedure.category
Procedure.performed[x]
<StructureDefinition xmlns="http://hl7.org/fhir">
    <id value="genomic-study-analysis" />
    <url value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/genomic-study-analysis" />
    <version value="2024.0.0-ballot" />
    <name value="MII_PR_MTB_Genomic_Study_Analysis" />
    <title value="Genomic Study Analysis" />
    <status value="draft" />
    <publisher value="Medizininformatik Initiative" />
    <contact>
        <telecom>
            <system value="url" />
            <value value="https://www.medizininformatik-initiative.de" />
        </telecom>
    </contact>
    <description value="Die Genomic Data analysis beschreibt die Methodik einer bestimmten molekulargenetischen Untersuchung." />
    <fhirVersion value="4.0.1" />
    <kind value="resource" />
    <abstract value="false" />
    <type value="Procedure" />
    <baseDefinition value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis" />
    <derivation value="constraint" />
    <differential>
        <element id="Procedure.meta">
            <path value="Procedure.meta" />
            <mustSupport value="true" />
        </element>
        <element id="Procedure.meta.profile">
            <path value="Procedure.meta.profile" />
            <mustSupport value="true" />
        </element>
        <element id="Procedure.extension">
            <path value="Procedure.extension" />
            <mustSupport value="true" />
        </element>
        <element id="Procedure.extension:method-type">
            <path value="Procedure.extension" />
            <sliceName value="method-type" />
            <mustSupport value="true" />
        </element>
        <element id="Procedure.extension:method-type.value[x]">
            <path value="Procedure.extension.value[x]" />
            <binding>
                <strength value="required" />
                <valueSet value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/ValueSet/mii-vs-mtb-genomic-analysis-method-type" />
            </binding>
        </element>
        <element id="Procedure.extension:genome-build">
            <path value="Procedure.extension" />
            <sliceName value="genome-build" />
            <mustSupport value="true" />
        </element>
        <element id="Procedure.extension:focus">
            <path value="Procedure.extension" />
            <sliceName value="focus" />
            <mustSupport value="true" />
        </element>
        <element id="Procedure.extension:specimen">
            <path value="Procedure.extension" />
            <sliceName value="specimen" />
            <mustSupport value="true" />
        </element>
        <element id="Procedure.extension:device">
            <path value="Procedure.extension" />
            <sliceName value="device" />
            <mustSupport value="true" />
        </element>
        <element id="Procedure.identifier">
            <path value="Procedure.identifier" />
            <mustSupport value="true" />
        </element>
        <element id="Procedure.category">
            <path value="Procedure.category" />
            <mustSupport value="true" />
        </element>
        <element id="Procedure.performed[x]">
            <path value="Procedure.performed[x]" />
            <mustSupport value="true" />
        </element>
    </differential>
</StructureDefinition>

{
    "resourceType": "StructureDefinition",
    "id": "genomic-study-analysis",
    "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/genomic-study-analysis",
    "version": "2024.0.0-ballot",
    "name": "MII_PR_MTB_Genomic_Study_Analysis",
    "title": "Genomic Study Analysis",
    "status": "draft",
    "publisher": "Medizininformatik Initiative",
    "contact":  [
        {
            "telecom":  [
                {
                    "system": "url",
                    "value": "https://www.medizininformatik-initiative.de"
                }
            ]
        }
    ],
    "description": "Die Genomic Data analysis beschreibt die Methodik einer bestimmten molekulargenetischen Untersuchung.",
    "fhirVersion": "4.0.1",
    "kind": "resource",
    "abstract": false,
    "type": "Procedure",
    "baseDefinition": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis",
    "derivation": "constraint",
    "differential": {
        "element":  [
            {
                "id": "Procedure.meta",
                "path": "Procedure.meta",
                "mustSupport": true
            },
            {
                "id": "Procedure.meta.profile",
                "path": "Procedure.meta.profile",
                "mustSupport": true
            },
            {
                "id": "Procedure.extension",
                "path": "Procedure.extension",
                "mustSupport": true
            },
            {
                "id": "Procedure.extension:method-type",
                "path": "Procedure.extension",
                "sliceName": "method-type",
                "mustSupport": true
            },
            {
                "id": "Procedure.extension:method-type.value[x]",
                "path": "Procedure.extension.value[x]",
                "binding": {
                    "strength": "required",
                    "valueSet": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/ValueSet/mii-vs-mtb-genomic-analysis-method-type"
                }
            },
            {
                "id": "Procedure.extension:genome-build",
                "path": "Procedure.extension",
                "sliceName": "genome-build",
                "mustSupport": true
            },
            {
                "id": "Procedure.extension:focus",
                "path": "Procedure.extension",
                "sliceName": "focus",
                "mustSupport": true
            },
            {
                "id": "Procedure.extension:specimen",
                "path": "Procedure.extension",
                "sliceName": "specimen",
                "mustSupport": true
            },
            {
                "id": "Procedure.extension:device",
                "path": "Procedure.extension",
                "sliceName": "device",
                "mustSupport": true
            },
            {
                "id": "Procedure.identifier",
                "path": "Procedure.identifier",
                "mustSupport": true
            },
            {
                "id": "Procedure.category",
                "path": "Procedure.category",
                "mustSupport": true
            },
            {
                "id": "Procedure.performed[x]",
                "path": "Procedure.performed[x]",
                "mustSupport": true
            }
        ]
    }
}
Genomic Study Analysis

Mapping Datensatz zu FHIR

Suchparameter

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

  1. Der Suchparameter "_id" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?_id=12345

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

Beispiele

Procedure.id[0]MII-EXA-MTB-GenomicStudyAnalysis-1
Procedure.meta[0].profile[0]https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/genomic-study-analysis
Procedure.extension[0].url[0]http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type
Procedure.extension[0].value[0].coding[0].system[0]http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs
Procedure.extension[0].value[0].coding[0].code[0]ngs-mps
Procedure.extension[0].value[0].coding[0].display[0]Next-Generation (NGS)/Massively parallel sequencing (MPS)
Procedure.extension[1].url[0]http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-focus
Procedure.extension[1].value[0].reference[0]Patient/example
Procedure.extension[2].extension[0].url[0]device
Procedure.extension[2].extension[0].value[0].reference[0]Device/MII-EXA-MTB-Device-Sequencer-1
Procedure.extension[2].extension[1].url[0]function
Procedure.extension[2].extension[1].value[0].coding[0].system[0]https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-genomicanalysis-devicefunction
Procedure.extension[2].extension[1].value[0].coding[0].code[0]sequencing-device
Procedure.extension[2].url[0]http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device
Procedure.extension[3].extension[0].url[0]device
Procedure.extension[3].extension[0].value[0].reference[0]Device/MII-EXA-MTB-Device-SequencingKit-1
Procedure.extension[3].extension[1].url[0]function
Procedure.extension[3].extension[1].value[0].coding[0].system[0]https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-genomicanalysis-devicefunction
Procedure.extension[3].extension[1].value[0].coding[0].code[0]sequencing-kit
Procedure.extension[3].url[0]http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device
Procedure.extension[4].extension[0].url[0]device
Procedure.extension[4].extension[0].value[0].reference[0]Device/MII-EXA-MTB-Device-LibraryPreparation-Kit-1
Procedure.extension[4].extension[1].url[0]function
Procedure.extension[4].extension[1].value[0].coding[0].system[0]https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-genomicanalysis-devicefunction
Procedure.extension[4].extension[1].value[0].coding[0].code[0]library-preparation-kit
Procedure.extension[4].url[0]http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device
Procedure.extension[5].url[0]http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genome-build
Procedure.extension[5].value[0].coding[0].system[0]http://loinc.org
Procedure.extension[5].value[0].coding[0].code[0]LA26806-2
Procedure.extension[5].value[0].coding[0].display[0]GRCh38
Procedure.status[0]completed
Procedure.category[0].coding[0].system[0]http://terminology.hl7.org/CodeSystem/observation-category
Procedure.category[0].coding[0].code[0]laboratory
Procedure.subject[0].reference[0]Patient/example
{
    "resourceType": "Procedure",
    "id": "MII-EXA-MTB-GenomicStudyAnalysis-1",
    "meta": {
        "profile":  [
            "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/genomic-study-analysis"
        ]
    },
    "extension":  [
        {
            "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type",
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "ngs-mps",
                        "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs",
                        "display": "Next-Generation (NGS)/Massively parallel sequencing (MPS)"
                    }
                ]
            }
        },
        {
            "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-focus",
            "valueReference": {
                "reference": "Patient/example"
            }
        },
        {
            "extension":  [
                {
                    "url": "device",
                    "valueReference": {
                        "reference": "Device/MII-EXA-MTB-Device-Sequencer-1"
                    }
                },
                {
                    "url": "function",
                    "valueCodeableConcept": {
                        "coding":  [
                            {
                                "code": "sequencing-device",
                                "system": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-genomicanalysis-devicefunction"
                            }
                        ]
                    }
                }
            ],
            "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device"
        },
        {
            "extension":  [
                {
                    "url": "device",
                    "valueReference": {
                        "reference": "Device/MII-EXA-MTB-Device-SequencingKit-1"
                    }
                },
                {
                    "url": "function",
                    "valueCodeableConcept": {
                        "coding":  [
                            {
                                "code": "sequencing-kit",
                                "system": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-genomicanalysis-devicefunction"
                            }
                        ]
                    }
                }
            ],
            "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device"
        },
        {
            "extension":  [
                {
                    "url": "device",
                    "valueReference": {
                        "reference": "Device/MII-EXA-MTB-Device-LibraryPreparation-Kit-1"
                    }
                },
                {
                    "url": "function",
                    "valueCodeableConcept": {
                        "coding":  [
                            {
                                "code": "library-preparation-kit",
                                "system": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-genomicanalysis-devicefunction"
                            }
                        ]
                    }
                }
            ],
            "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-genome-build",
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "LA26806-2",
                        "system": "http://loinc.org",
                        "display": "GRCh38"
                    }
                ]
            }
        }
    ],
    "status": "completed",
    "category": {
        "coding":  [
            {
                "system": "http://terminology.hl7.org/CodeSystem/observation-category",
                "code": "laboratory"
            }
        ]
    },
    "subject": {
        "reference": "Patient/example"
    }
}

Powered by SIMPLIFIER.NET

HL7® and FHIR® are the registered trademarks of Health Level Seven International