{ "resourceType": "StructureDefinition", "id": "mii-pr-molgen-genomic-study", "meta": { "profile": [ "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-shareablestructuredefinition", "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-publishablestructuredefinition" ], "extension": [ { "url": "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-license", "valueCode": "CC-BY-4.0" }, { "url": "http://hl7.org/fhir/StructureDefinition/package-source", "extension": [ { "url": "packageId", "valueId": "de.medizininformatikinitiative.kerndatensatz.molgen" }, { "url": "version", "valueString": "2027.0.0-ballot.1" }, { "url": "uri", "valueUri": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen" } ] } ] }, "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability", "valueCode": "shareable" }, { "url": "http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability", "valueCode": "publishable" }, { "url": "http://hl7.org/fhir/StructureDefinition/artifact-usage", "valueMarkdown": "Use this profile as the technical FHIR representation of the corresponding Medical Informatics Initiative logical model. The profile constrains a base FHIR resource for the MII module context by specifying how elements are used, which elements are required or not used, which extensions and terminology bindings apply, and how the resource maps to the module-specific content model. Implementers should produce and consume resource instances that conform to this profile when exchanging data for the corresponding MII module." }, { "url": "http://hl7.org/fhir/StructureDefinition/artifact-versionPolicy", "valueCodeableConcept": { "coding": [ { "code": "package", "system": "http://terminology.hl7.org/CodeSystem/artifact-version-policy-codes", "version": "3.0.0", "display": "Package" } ] } }, { "url": "http://hl7.org/fhir/StructureDefinition/resource-approvalDate", "valueDate": "2026-09-15" }, { "url": "http://hl7.org/fhir/StructureDefinition/artifact-topic", "valueCodeableConcept": { "coding": [ { "code": "C17457", "system": "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl" } ] } }, { "url": "http://hl7.org/fhir/StructureDefinition/artifact-author", "valueContactDetail": { "telecom": [ { "system": "email", "value": "thomas.debertshaeuser@charite.de" } ] } }, { "url": "http://hl7.org/fhir/StructureDefinition/artifact-editor", "valueContactDetail": { "name": "Taskforce Core Data Set" } }, { "url": "http://hl7.org/fhir/StructureDefinition/artifact-reviewer", "valueContactDetail": { "name": "Interoperability Working Group", "telecom": [ { "system": "url", "value": "https://www.medizininformatik-initiative.de/en/collaboration/interoperability-working-group" } ] } }, { "url": "http://hl7.org/fhir/StructureDefinition/artifact-reviewer", "valueContactDetail": { "name": "National Steering Committee", "telecom": [ { "system": "url", "value": "https://www.medizininformatik-initiative.de/en/collaboration/national-steering-committee" } ] } }, { "url": "http://hl7.org/fhir/StructureDefinition/artifact-endorser", "valueContactDetail": { "name": "Interoperability Working Group", "telecom": [ { "system": "url", "value": "https://www.medizininformatik-initiative.de/en/collaboration/interoperability-working-group" } ] } }, { "url": "http://hl7.org/fhir/StructureDefinition/artifact-endorser", "valueContactDetail": { "name": "National Steering Committee", "telecom": [ { "system": "url", "value": "https://www.medizininformatik-initiative.de/en/collaboration/national-steering-committee" } ] } }, { "url": "http://hl7.org/fhir/StructureDefinition/artifact-versionAlgorithm", "valueCoding": { "code": "semver", "system": "http://hl7.org/fhir/version-algorithm", "display": "SemVer" } }, { "url": "http://hl7.org/fhir/StructureDefinition/resource-effectivePeriod", "valuePeriod": { "start": "2027" } } ], "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-pr-molgen-genomic-study", "version": "2027.0.0-ballot.1", "name": "MII_PR_MolGen_GenomicStudy", "title": "MII PR MolGen Genomic Study", "status": "active", "experimental": false, "publisher": "Medizininformatik-Initiative", "contact": [ { "telecom": [ { "system": "url", "value": "https://www.medizininformatik-initiative.de" } ] } ], "description": "Genomic Study ist ein Profil, dass die Durchführung von übergeorndenten molekulargenetischen Untersuchungen (Studies) beschreibt. Einzelne Assays werden dann als GenomicStudyAnalysis abgebildet. Es ist vom GenomicStudy-Profils aus dem Genomics Reporting IG abgeleitet .", "fhirVersion": "4.0.1", "mapping": [ { "identity": "MII-KDS", "name": "MII KDS Mapping" } ], "kind": "resource", "abstract": false, "type": "Procedure", "baseDefinition": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study", "derivation": "constraint", "differential": { "element": [ { "id": "Procedure.extension:genomic-study-analysis", "path": "Procedure.extension", "sliceName": "genomic-study-analysis", "short": "Durchgeführte Analysen", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Durchgeführte Analysen" } ] } ] }, "definition": "Referenzen zu den einzelnen GenomicStudyAnalysis-Ressourcen die die spezifischen Analysen und Assays dieser Studie beschreiben", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Referenzen zu den einzelnen GenomicStudyAnalysis-Ressourcen die die spezifischen Analysen und Assays dieser Studie beschreiben" } ] } ] }, "mustSupport": true }, { "id": "Procedure.status", "path": "Procedure.status", "short": "Status der genetischen Studie", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Status der genetischen Studie" } ] } ] }, "definition": "Aktueller Status der genetischen Studie wie z.B. registered oder completed oder cancelled", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Aktueller Status der genetischen Studie wie z.B. registered oder completed oder cancelled" } ] } ] }, "mustSupport": true }, { "id": "Procedure.code", "path": "Procedure.code", "short": "Art der genomischen Untersuchung", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Art der genomischen Untersuchung" } ] } ] }, "definition": "Art der genomischen oder molekulargenetischen Untersuchung die durchgeführt wurde", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Art der genomischen oder molekulargenetischen Untersuchung die durchgeführt wurde" } ] } ] }, "mustSupport": true }, { "id": "Procedure.subject", "path": "Procedure.subject", "short": "Patient/Proband der Untersuchung", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Patient/Proband der Untersuchung" } ] } ] }, "definition": "Referenz zum Patienten oder Probanden für den die genetische Studie durchgeführt wurde", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Referenz zum Patienten oder Probanden für den die genetische Studie durchgeführt wurde" } ] } ] }, "mustSupport": true }, { "id": "Procedure.encounter", "path": "Procedure.encounter", "short": "Fallbezug der Untersuchung", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Fallbezug der Untersuchung" } ] } ] }, "definition": "Referenz zum Behandlungsfall in dessen Kontext die genetische Studie durchgeführt wurde", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Referenz zum Behandlungsfall in dessen Kontext die genetische Studie durchgeführt wurde" } ] } ] }, "mustSupport": true }, { "id": "Procedure.performed[x]", "path": "Procedure.performed[x]", "short": "Zeitpunkt oder Zeitraum der Durchführung", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Zeitpunkt oder Zeitraum der Durchführung" } ] } ] }, "definition": "Zeitpunkt oder Zeitraum in dem die genetische Studie durchgeführt wurde", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Zeitpunkt oder Zeitraum in dem die genetische Studie durchgeführt wurde" } ] } ] }, "mustSupport": true }, { "id": "Procedure.reasonReference", "path": "Procedure.reasonReference", "short": "Anforderung/Indikation für die genetische Untersuchung", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Anforderung/Indikation für die genetische Untersuchung" } ] } ] }, "definition": "Referenz zur ServiceRequest-Ressource die die Anforderung für diese genetische Studie darstellt", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Referenz zur ServiceRequest-Ressource die die Anforderung für diese genetische Studie darstellt" } ] } ] }, "mustSupport": true } ] } }