{ "resourceType": "StructureDefinition", "id": "mii-pr-molgen-diagnostische-implikation", "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/diagnostische-implikation", "version": "2027.0.0-ballot.1", "name": "MII_PR_MolGen_DiagnostischeImplikation", "title": "MII PR MolGen Diagnostische Implikation", "status": "active", "experimental": false, "publisher": "Medizininformatik-Initiative", "contact": [ { "telecom": [ { "system": "url", "value": "https://www.medizininformatik-initiative.de" } ] } ], "description": "Dieses Profil beschreibt den Zusammenhang zwischen einem oder mehreren Genotyp/Haplotyp/Varianten und Beweisen für oder gegen eine bestimmte Krankheit.", "fhirVersion": "4.0.1", "mapping": [ { "identity": "MII-KDS", "name": "MII KDS Mapping" } ], "kind": "resource", "abstract": false, "type": "Observation", "baseDefinition": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication", "derivation": "constraint", "differential": { "element": [ { "id": "Observation.extension:workflow-relatedArtifact", "path": "Observation.extension", "sliceName": "workflow-relatedArtifact", "short": "Verknüpfte Artefakte", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Verknüpfte Artefakte" } ] } ] }, "definition": "Verknüpfte Literatur oder andere Artefakte wie Zitationen", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Verknüpfte Literatur oder andere Artefakte wie Zitationen" } ] } ] }, "mustSupport": true }, { "id": "Observation.category", "path": "Observation.category", "short": "Kategorie", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Kategorie" } ] } ] }, "definition": "Klassifizierung der Beobachtungsart", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Klassifizierung der Beobachtungsart" } ] } ] }, "mustSupport": true }, { "id": "Observation.code", "path": "Observation.code", "short": "Code", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Code" } ] } ] }, "definition": "Code zur Identifizierung der diagnostischen Implikation", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Code zur Identifizierung der diagnostischen Implikation" } ] } ] }, "mustSupport": true }, { "id": "Observation.subject", "path": "Observation.subject", "short": "Patient", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Patient" } ] } ] }, "definition": "Der Patient auf den sich die diagnostische Implikation bezieht", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Der Patient auf den sich die diagnostische Implikation bezieht" } ] } ] }, "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/StructureDefinition/Patient", "http://hl7.org/fhir/StructureDefinition/Group" ] } ], "mustSupport": true }, { "id": "Observation.encounter", "path": "Observation.encounter", "short": "Kontakt", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Kontakt" } ] } ] }, "definition": "Der Kontakt in dessen Rahmen die Beobachtung gemacht wurde", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Der Kontakt in dessen Rahmen die Beobachtung gemacht wurde" } ] } ] }, "mustSupport": true }, { "id": "Observation.effective[x]", "path": "Observation.effective[x]", "short": "Zeitpunkt der Beobachtung", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Zeitpunkt der Beobachtung" } ] } ] }, "definition": "Klinisch relevanter Zeitpunkt der Beobachtung", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Klinisch relevanter Zeitpunkt der Beobachtung" } ] } ] }, "mustSupport": true }, { "id": "Observation.issued", "path": "Observation.issued", "short": "Freigabedatum", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Freigabedatum" } ] } ] }, "definition": "Datum und Uhrzeit der Freigabe", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Datum und Uhrzeit der Freigabe" } ] } ] }, "mustSupport": true }, { "id": "Observation.derivedFrom", "path": "Observation.derivedFrom", "short": "Abgeleitet von", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Abgeleitet von" } ] } ] }, "definition": "Referenzen zu anderen Beobachtungen von denen diese abgeleitet ist", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Referenzen zu anderen Beobachtungen von denen diese abgeleitet ist" } ] } ] }, "mustSupport": true }, { "id": "Observation.derivedFrom:variant", "path": "Observation.derivedFrom", "sliceName": "variant", "type": [ { "code": "Reference", "targetProfile": [ "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante" ] } ] }, { "id": "Observation.component", "path": "Observation.component", "short": "Komponenten", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Komponenten" } ] } ] }, "definition": "Einzelne Komponenten der diagnostischen Implikation", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Einzelne Komponenten der diagnostischen Implikation" } ] } ] }, "mustSupport": true }, { "id": "Observation.component:conclusion-string", "path": "Observation.component", "sliceName": "conclusion-string", "short": "Schlussfolgerung - Text", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Schlussfolgerung - Text" } ] } ] }, "definition": "Textuelle Zusammenfassung der diagnostischen Implikation", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Textuelle Zusammenfassung der diagnostischen Implikation" } ] } ] }, "mustSupport": true }, { "id": "Observation.component:evidence-level", "path": "Observation.component", "sliceName": "evidence-level", "short": "Evidenzlevel", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Evidenzlevel" } ] } ] }, "definition": "Das Evidenzlevel für die klinische Signifikanz", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Das Evidenzlevel für die klinische Signifikanz" } ] } ] }, "mustSupport": true, "mapping": [ { "identity": "MII-KDS", "map": "mide-dataelement-1720", "comment": "Clinical Annotation Level Of Evidence" } ] }, { "id": "Observation.component:clinical-significance", "path": "Observation.component", "sliceName": "clinical-significance", "short": "Klinische Signifikanz", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Klinische Signifikanz" } ] } ] }, "definition": "Die klinische Signifikanz der Variante wie z.B. pathogen oder benigne", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Die klinische Signifikanz der Variante wie z.B. pathogen oder benigne" } ] } ] }, "mustSupport": true, "mapping": [ { "identity": "MII-KDS", "map": "mide-dataelement-2015", "comment": "Klinische Signifikanz" } ] }, { "id": "Observation.component:predicted-phenotype", "path": "Observation.component", "sliceName": "predicted-phenotype", "short": "Vorhergesagter Phänotyp", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Vorhergesagter Phänotyp" } ] } ] }, "definition": "Der mit der Variante assoziierte vorhergesagte Phänotyp oder Erkrankung", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Der mit der Variante assoziierte vorhergesagte Phänotyp oder Erkrankung" } ] } ] }, "mustSupport": true }, { "id": "Observation.component:mode-of-inheritance", "path": "Observation.component", "sliceName": "mode-of-inheritance", "short": "Vererbungsmodus", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Vererbungsmodus" } ] } ] }, "definition": "Der Vererbungsmodus der assoziierten Erkrankung", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Der Vererbungsmodus der assoziierten Erkrankung" } ] } ] }, "mustSupport": true } ] } }