{
  "resourceType": "StructureDefinition",
  "url": "http://dktk.dkfz.de/fhir/StructureDefinition/onco-core-Observation-GenetischeVariante",
  "version": "1.0.0",
  "name": "GenetischeVariante",
  "status": "active",
  "description": "Datenelemente zur Erfassung molekularer Marker im DKTK",
  "fhirVersion": "4.0.0",
  "kind": "resource",
  "abstract": false,
  "type": "Observation",
  "baseDefinition": "http://hl7.org/fhir/StructureDefinition/Observation",
  "derivation": "constraint",
  "differential": {
    "element": [
      {
        "id": "Observation.status",
        "path": "Observation.status",
        "mustSupport": true
      },
      {
        "id": "Observation.category.coding.system",
        "path": "Observation.category.coding.system",
        "min": 1,
        "fixedUri": "http://hl7.org/fhir/observation-category"
      },
      {
        "id": "Observation.category.coding.code",
        "path": "Observation.category.coding.code",
        "min": 1,
        "fixedCode": "laboratory"
      },
      {
        "id": "Observation.code",
        "path": "Observation.code",
        "short": "Bezeichnung des molekularen Markers",
        "definition": "Bezeichnung des molekularen Markers",
        "mustSupport": true
      },
      {
        "id": "Observation.code.coding.system",
        "path": "Observation.code.coding.system",
        "min": 1,
        "fixedUri": "http://loinc.org",
        "mustSupport": true
      },
      {
        "id": "Observation.code.coding.code",
        "path": "Observation.code.coding.code",
        "min": 1,
        "fixedCode": "69548-6",
        "mustSupport": true
      },
      {
        "id": "Observation.subject",
        "path": "Observation.subject",
        "min": 1,
        "type": [
          {
            "code": "Reference",
            "targetProfile": [
              "http://dktk.dkfz.de/fhir/StructureDefinition/onco-core-Patient-Patient",
              "http://dktk.dkfz.de/fhir/StructureDefinition/onco-core-Patient-Pseudonym"
            ]
          }
        ],
        "mustSupport": true
      },
      {
        "id": "Observation.focus",
        "path": "Observation.focus",
        "type": [
          {
            "code": "Reference",
            "targetProfile": [
              "http://hl7.org/fhir/StructureDefinition/Resource",
              "http://dktk.dkfz.de/fhir/StructureDefinition/onco-core-Condition-Primaerdiagnose"
            ]
          }
        ],
        "mustSupport": true
      },
      {
        "id": "Observation.encounter",
        "path": "Observation.encounter",
        "type": [
          {
            "code": "Reference",
            "targetProfile": [
              "http://dktk.dkfz.de/fhir/StructureDefinition/onco-core-Encounter-Fall"
            ]
          }
        ]
      },
      {
        "id": "Observation.effective[x]",
        "path": "Observation.effective[x]",
        "short": "Datum der Datenerhebung",
        "definition": "Datum der Datenerhebung des molekularen Markers",
        "type": [
          {
            "code": "dateTime"
          }
        ],
        "mustSupport": true,
        "mapping": [
          {
            "identity": "ISO-11179",
            "map": "urn:dktk:dataelement:1:3",
            "comment": "urn:dktk:dataelement:1:3"
          }
        ]
      },
      {
        "id": "Observation.value[x]",
        "path": "Observation.value[x]",
        "short": "Status des molekularen Markers",
        "definition": "Zustand oder Status des molekularen Markers",
        "min": 1,
        "type": [
          {
            "code": "CodeableConcept"
          }
        ],
        "mustSupport": true,
        "binding": {
          "strength": "extensible",
          "description": "Genetische Variante Ausprägung",
          "valueSet": "http://dktk.dkfz.de/fhir/onco/core/ValueSet/GenetischeVarianteVS"
        }
      },
      {
        "id": "Observation.value[x].coding.system",
        "path": "Observation.value[x].coding.system",
        "mustSupport": true
      },
      {
        "id": "Observation.value[x].coding.code",
        "path": "Observation.value[x].coding.code",
        "short": "Status des molekularen Markers",
        "definition": "Zustand oder Status des molekularen Markers",
        "min": 1,
        "mustSupport": true,
        "mapping": [
          {
            "identity": "ISO-11179",
            "map": "urn:dktk:dataelement:3:2",
            "comment": "urn:dktk:dataelement:3:2"
          }
        ]
      },
      {
        "id": "Observation.value[x].text",
        "path": "Observation.value[x].text",
        "mustSupport": true,
        "mapping": [
          {
            "identity": "ISO-11179",
            "map": "urn:dktk:dataelement:4:3",
            "comment": "urn:dktk:dataelement:4:3"
          }
        ]
      },
      {
        "id": "Observation.specimen",
        "path": "Observation.specimen",
        "type": [
          {
            "code": "Reference",
            "targetProfile": [
              "https://fhir.bbmri.de/StructureDefinition/Specimen"
            ]
          }
        ]
      },
      {
        "id": "Observation.specimen.reference",
        "path": "Observation.specimen.reference",
        "min": 1
      },
      {
        "id": "Observation.component",
        "path": "Observation.component",
        "slicing": {
          "discriminator": [
            {
              "type": "pattern",
              "path": "code"
            }
          ],
          "description": "Slice based on the component.code pattern",
          "rules": "open"
        }
      },
      {
        "id": "Observation.component:GeneNomenclature",
        "path": "Observation.component",
        "sliceName": "GeneNomenclature",
        "short": "Gene Name",
        "definition": "Bezeichnung des molekularen Markers gemaess HGNC oder bei Bedarf eigene Bezeichnung",
        "max": "1",
        "mustSupport": true
      },
      {
        "id": "Observation.component:GeneNomenclature.code",
        "path": "Observation.component.code",
        "patternCodeableConcept": {
          "coding": [
            {
              "system": "http://loinc.org",
              "code": "48018-6"
            }
          ]
        },
        "mustSupport": true
      },
      {
        "id": "Observation.component:GeneNomenclature.value[x]",
        "path": "Observation.component.value[x]",
        "min": 1,
        "type": [
          {
            "code": "CodeableConcept"
          }
        ],
        "mustSupport": true,
        "binding": {
          "strength": "extensible",
          "description": "HGNC",
          "valueSet": "http://dktk.dkfz.de/fhir/onco/core/ValueSet/GeneNomenclatureVS"
        },
        "mapping": [
          {
            "identity": "ISO-11179",
            "map": "urn:dktk:dataelement:2:2",
            "comment": "urn:dktk:dataelement:2:2"
          }
        ]
      },
      {
        "id": "Observation.component:Amino-acid-change",
        "path": "Observation.component",
        "sliceName": "Amino-acid-change",
        "mustSupport": true
      },
      {
        "id": "Observation.component:Amino-acid-change.code",
        "path": "Observation.component.code",
        "patternCodeableConcept": {
          "coding": [
            {
              "system": "http://loinc.org",
              "code": "48005-3"
            }
          ]
        }
      },
      {
        "id": "Observation.component:Amino-acid-change.value[x]",
        "path": "Observation.component.value[x]",
        "min": 1,
        "type": [
          {
            "code": "string"
          }
        ]
      },
      {
        "id": "Observation.component:DNA-change",
        "path": "Observation.component",
        "sliceName": "DNA-change",
        "max": "1",
        "mustSupport": true
      },
      {
        "id": "Observation.component:DNA-change.code",
        "path": "Observation.component.code",
        "patternCodeableConcept": {
          "coding": [
            {
              "system": "http://loinc.org",
              "code": "81290-9"
            }
          ]
        }
      },
      {
        "id": "Observation.component:DNA-change.value[x]",
        "path": "Observation.component.value[x]",
        "min": 1,
        "type": [
          {
            "code": "string"
          }
        ]
      },
      {
        "id": "Observation.component:RefSeq-NCBI-ID",
        "path": "Observation.component",
        "sliceName": "RefSeq-NCBI",
        "max": "1",
        "mustSupport": true
      },
      {
        "id": "Observation.component:RefSeq-NCBI-ID.code",
        "path": "Observation.component.code",
        "patternCodeableConcept": {
          "coding": [
            {
              "system": "http://loinc.org",
              "code": "81248-7"
            }
          ]
        }
      },
      {
        "id": "Observation.component:RefSeq-NCBI-ID.value[x]",
        "path": "Observation.component.value[x]",
        "min": 1,
        "type": [
          {
            "code": "string"
          }
        ]
      },
      {
        "id": "Observation.component:Ensembl-ID",
        "path": "Observation.component",
        "sliceName": "Ensembl-ID",
        "max": "1",
        "mustSupport": true
      },
      {
        "id": "Observation.component:Ensembl-ID.code",
        "path": "Observation.component.code",
        "patternCodeableConcept": {
          "coding": [
            {
              "system": "http://loinc.org",
              "code": "81249-5"
            }
          ]
        }
      },
      {
        "id": "Observation.component:Ensembl-ID.value[x]",
        "path": "Observation.component.value[x]",
        "min": 1,
        "type": [
          {
            "code": "string"
          }
        ]
      }
    ]
  }
}