{
  "description": "Dieses Profil beschreibt die Feststellung eines bestimmten Genotyps auf der Grundlage einer oder mehrerer Varianten oder Haplotypen.",
  "_filename": "fsh-generated/resources/StructureDefinition-mii-pr-molgen-genotyp.json",
  "package_name": "de.medizininformatikinitiative.kerndatensatz.molgen",
  "date": null,
  "derivation": "constraint",
  "publisher": "Medizininformatik Initiative",
  "fhirVersion": "4.0.1",
  "name": "MII_PR_MolGen_Genotyp",
  "mapping": [ {
    "name": "MII KDS Mapping",
    "identity": "MII-KDS"
  } ],
  "abstract": false,
  "type": "Observation",
  "experimental": null,
  "resourceType": "StructureDefinition",
  "title": "MII PR MolGen Genotyp",
  "package_version": "2026.0.1",
  "status": "active",
  "id": "6fb0f860-10c1-4cb3-8278-6677174d00fd",
  "kind": "resource",
  "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genotyp",
  "version": "2026.0.1",
  "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
    }, {
      "path": "Observation.subject",
      "min": 1,
      "definition": "Der Patient auf den sich der Genotyp bezieht",
      "short": "Patient",
      "_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"
          } ]
        } ]
      },
      "type": [ {
        "code": "Reference",
        "targetProfile": [ "http://hl7.org/fhir/StructureDefinition/Patient", "http://hl7.org/fhir/StructureDefinition/Group" ]
      } ],
      "mustSupport": true,
      "_short": {
        "extension": [ {
          "url": "http://hl7.org/fhir/StructureDefinition/translation",
          "extension": [ {
            "url": "lang",
            "valueCode": "de-DE"
          }, {
            "url": "content",
            "valueString": "Patient"
          } ]
        } ]
      },
      "id": "Observation.subject"
    }, {
      "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",
      "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 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
    }, {
      "path": "Observation.component",
      "definition": "Das untersuchte Gen identifiziert durch HGNC-ID",
      "short": "Untersuchtes Gen",
      "_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"
          } ]
        } ]
      },
      "mapping": [ {
        "map": "mide-dataelement-1400",
        "comment": "Getestete Gene ID",
        "identity": "MII-KDS"
      } ],
      "mustSupport": true,
      "_short": {
        "extension": [ {
          "url": "http://hl7.org/fhir/StructureDefinition/translation",
          "extension": [ {
            "url": "lang",
            "valueCode": "de-DE"
          }, {
            "url": "content",
            "valueString": "Untersuchtes Gen"
          } ]
        } ]
      },
      "sliceName": "gene-studied",
      "id": "Observation.component:gene-studied"
    }, {
      "path": "Observation.component",
      "definition": "Chromosomale Position in Bandennomenklatur",
      "short": "Zytogenetische Lokalisation",
      "_definition": {
        "extension": [ {
          "url": "http://hl7.org/fhir/StructureDefinition/translation",
          "extension": [ {
            "url": "lang",
            "valueCode": "de-DE"
          }, {
            "url": "content",
            "valueString": "Chromosomale Position in Bandennomenklatur"
          } ]
        } ]
      },
      "mapping": [ {
        "map": "mide-dataelement-1434",
        "comment": "Zytogenetische Lokalisierung (Lokus)",
        "identity": "MII-KDS"
      } ],
      "mustSupport": true,
      "_short": {
        "extension": [ {
          "url": "http://hl7.org/fhir/StructureDefinition/translation",
          "extension": [ {
            "url": "lang",
            "valueCode": "de-DE"
          }, {
            "url": "content",
            "valueString": "Zytogenetische Lokalisation"
          } ]
        } ]
      },
      "sliceName": "cytogenetic-location",
      "id": "Observation.component:cytogenetic-location"
    }, {
      "path": "Observation.component",
      "definition": "Die verwendete Referenzgenom-Version",
      "short": "Referenzgenom-Assembly",
      "_definition": {
        "extension": [ {
          "url": "http://hl7.org/fhir/StructureDefinition/translation",
          "extension": [ {
            "url": "lang",
            "valueCode": "de-DE"
          }, {
            "url": "content",
            "valueString": "Die verwendete Referenzgenom-Version"
          } ]
        } ]
      },
      "mapping": [ {
        "map": "mide-dataelement-1788",
        "comment": "Referenzgenom",
        "identity": "MII-KDS"
      } ],
      "mustSupport": true,
      "_short": {
        "extension": [ {
          "url": "http://hl7.org/fhir/StructureDefinition/translation",
          "extension": [ {
            "url": "lang",
            "valueCode": "de-DE"
          }, {
            "url": "content",
            "valueString": "Referenzgenom-Assembly"
          } ]
        } ]
      },
      "sliceName": "reference-sequence-assembly",
      "id": "Observation.component:reference-sequence-assembly"
    } ]
  },
  "contact": [ {
    "telecom": [ {
      "value": "https://www.medizininformatik-initiative.de",
      "system": "url"
    } ]
  } ],
  "baseDefinition": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"
}