{
  "description": "Dieses Profil beschreibt den Zusammenhang zwischen einem oder mehreren Genotyp/Haplotyp/Varianten und Beweisen für oder gegen eine bestimmte Krankheit.",
  "_filename": "fsh-generated/resources/StructureDefinition-mii-pr-molgen-diagnostische-implikation.json",
  "package_name": "de.medizininformatikinitiative.kerndatensatz.molgen",
  "date": null,
  "derivation": "constraint",
  "publisher": "Medizininformatik Initiative",
  "fhirVersion": "4.0.1",
  "name": "MII_PR_MolGen_DiagnostischeImplikation",
  "mapping": [ {
    "name": "MII KDS Mapping",
    "identity": "MII-KDS"
  } ],
  "abstract": false,
  "type": "Observation",
  "experimental": null,
  "resourceType": "StructureDefinition",
  "title": "MII PR MolGen Diagnostische Implikation",
  "package_version": "2026.0.1",
  "status": "active",
  "id": "0793a2df-1ab3-4733-bd0d-da981874559d",
  "kind": "resource",
  "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/diagnostische-implikation",
  "version": "2026.0.1",
  "differential": {
    "element": [ {
      "id": "Observation.extension:workflow-relatedArtifact",
      "path": "Observation.extension",
      "short": "Verknüpfte Artefakte",
      "_short": {
        "extension": [ {
          "url": "http://hl7.org/fhir/StructureDefinition/translation",
          "extension": [ {
            "url": "lang",
            "valueCode": "de-DE"
          }, {
            "url": "content",
            "valueString": "Verknüpfte Artefakte"
          } ]
        } ]
      },
      "sliceName": "workflow-relatedArtifact",
      "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",
      "type": [ {
        "code": "Reference",
        "targetProfile": [ "http://hl7.org/fhir/StructureDefinition/Patient", "http://hl7.org/fhir/StructureDefinition/Group" ]
      } ],
      "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"
          } ]
        } ]
      },
      "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",
      "type": [ {
        "code": "Reference",
        "targetProfile": [ "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante" ]
      } ],
      "sliceName": "variant"
    }, {
      "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",
      "short": "Schlussfolgerung - Text",
      "_short": {
        "extension": [ {
          "url": "http://hl7.org/fhir/StructureDefinition/translation",
          "extension": [ {
            "url": "lang",
            "valueCode": "de-DE"
          }, {
            "url": "content",
            "valueString": "Schlussfolgerung - Text"
          } ]
        } ]
      },
      "sliceName": "conclusion-string",
      "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
    }, {
      "path": "Observation.component",
      "definition": "Das Evidenzlevel für die klinische Signifikanz",
      "short": "Evidenzlevel",
      "_definition": {
        "extension": [ {
          "url": "http://hl7.org/fhir/StructureDefinition/translation",
          "extension": [ {
            "url": "lang",
            "valueCode": "de-DE"
          }, {
            "url": "content",
            "valueString": "Das Evidenzlevel für die klinische Signifikanz"
          } ]
        } ]
      },
      "mapping": [ {
        "map": "mide-dataelement-1720",
        "comment": "Clinical Annotation Level Of Evidence",
        "identity": "MII-KDS"
      } ],
      "mustSupport": true,
      "_short": {
        "extension": [ {
          "url": "http://hl7.org/fhir/StructureDefinition/translation",
          "extension": [ {
            "url": "lang",
            "valueCode": "de-DE"
          }, {
            "url": "content",
            "valueString": "Evidenzlevel"
          } ]
        } ]
      },
      "sliceName": "evidence-level",
      "id": "Observation.component:evidence-level"
    }, {
      "path": "Observation.component",
      "definition": "Die klinische Signifikanz der Variante wie z.B. pathogen oder benigne",
      "short": "Klinische Signifikanz",
      "_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"
          } ]
        } ]
      },
      "mapping": [ {
        "map": "mide-dataelement-2015",
        "comment": "Klinische Signifikanz",
        "identity": "MII-KDS"
      } ],
      "mustSupport": true,
      "_short": {
        "extension": [ {
          "url": "http://hl7.org/fhir/StructureDefinition/translation",
          "extension": [ {
            "url": "lang",
            "valueCode": "de-DE"
          }, {
            "url": "content",
            "valueString": "Klinische Signifikanz"
          } ]
        } ]
      },
      "sliceName": "clinical-significance",
      "id": "Observation.component:clinical-significance"
    }, {
      "id": "Observation.component:predicted-phenotype",
      "path": "Observation.component",
      "short": "Vorhergesagter Phänotyp",
      "_short": {
        "extension": [ {
          "url": "http://hl7.org/fhir/StructureDefinition/translation",
          "extension": [ {
            "url": "lang",
            "valueCode": "de-DE"
          }, {
            "url": "content",
            "valueString": "Vorhergesagter Phänotyp"
          } ]
        } ]
      },
      "sliceName": "predicted-phenotype",
      "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",
      "short": "Vererbungsmodus",
      "_short": {
        "extension": [ {
          "url": "http://hl7.org/fhir/StructureDefinition/translation",
          "extension": [ {
            "url": "lang",
            "valueCode": "de-DE"
          }, {
            "url": "content",
            "valueString": "Vererbungsmodus"
          } ]
        } ]
      },
      "sliceName": "mode-of-inheritance",
      "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
    } ]
  },
  "contact": [ {
    "telecom": [ {
      "value": "https://www.medizininformatik-initiative.de",
      "system": "url"
    } ]
  } ],
  "baseDefinition": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"
}