{
  "resourceType": "StructureDefinition",
  "id": "mii-pr-molgen-diagnostische-implikation",
  "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/diagnostische-implikation",
  "version": "2026.0.4",
  "name": "MII_PR_MolGen_DiagnostischeImplikation",
  "title": "MII PR MolGen Diagnostische Implikation",
  "status": "active",
  "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
      }
    ]
  }
}