{ "resourceType": "StructureDefinition", "id": "mii-pr-molgen-genotyp", "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/genotyp", "version": "2027.0.0-ballot.1", "name": "MII_PR_MolGen_Genotyp", "title": "MII PR MolGen Genotyp", "status": "active", "experimental": false, "publisher": "Medizininformatik-Initiative", "contact": [ { "telecom": [ { "system": "url", "value": "https://www.medizininformatik-initiative.de" } ] } ], "description": "Dieses Profil beschreibt die Feststellung eines bestimmten Genotyps auf der Grundlage einer oder mehrerer Varianten oder Haplotypen.", "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/genotype", "derivation": "constraint", "differential": { "element": [ { "id": "Observation.status", "path": "Observation.status", "short": "Status", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Status" } ] } ] }, "definition": "Status der Beobachtung", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Status der Beobachtung" } ] } ] }, "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 des Genotyps", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Code zur Identifizierung des Genotyps" } ] } ] }, "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 der Genotyp bezieht", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Der Patient auf den sich der Genotyp bezieht" } ] } ] }, "min": 1, "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.value[x]", "path": "Observation.value[x]", "short": "Ergebniswert", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Ergebniswert" } ] } ] }, "definition": "Der Genotyp als kodierter Wert oder Text", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Der Genotyp als kodierter Wert oder Text" } ] } ] }, "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": "Die Varianten oder Haplotypen von denen der Genotyp abgeleitet wurde", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Die Varianten oder Haplotypen von denen der Genotyp abgeleitet wurde" } ] } ] }, "mustSupport": true }, { "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 des Genotyps", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Einzelne Komponenten des Genotyps" } ] } ] }, "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 des Genotyps", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Textuelle Zusammenfassung des Genotyps" } ] } ] }, "mustSupport": true }, { "id": "Observation.component:gene-studied", "path": "Observation.component", "sliceName": "gene-studied", "short": "Untersuchtes Gen", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Untersuchtes Gen" } ] } ] }, "definition": "Das untersuchte Gen identifiziert durch HGNC-ID", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Das untersuchte Gen identifiziert durch HGNC-ID" } ] } ] }, "mustSupport": true, "mapping": [ { "identity": "MII-KDS", "map": "mide-dataelement-1400", "comment": "Getestete Gene ID" } ] }, { "id": "Observation.component:cytogenetic-location", "path": "Observation.component", "sliceName": "cytogenetic-location", "short": "Zytogenetische Lokalisation", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Zytogenetische Lokalisation" } ] } ] }, "definition": "Chromosomale Position in Bandennomenklatur", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Chromosomale Position in Bandennomenklatur" } ] } ] }, "mustSupport": true, "mapping": [ { "identity": "MII-KDS", "map": "mide-dataelement-1434", "comment": "Zytogenetische Lokalisierung (Lokus)" } ] }, { "id": "Observation.component:reference-sequence-assembly", "path": "Observation.component", "sliceName": "reference-sequence-assembly", "short": "Referenzgenom-Assembly", "_short": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Referenzgenom-Assembly" } ] } ] }, "definition": "Die verwendete Referenzgenom-Version", "_definition": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/translation", "extension": [ { "url": "lang", "valueCode": "de-DE" }, { "url": "content", "valueString": "Die verwendete Referenzgenom-Version" } ] } ] }, "mustSupport": true, "mapping": [ { "identity": "MII-KDS", "map": "mide-dataelement-1788", "comment": "Referenzgenom" } ] } ] } }