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