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Packagede.medizininformatikinitiative.kerndatensatz.molgen
Resource TypeObservation
IdObservation-mii-exa-molgen-variante-fgfr2-fusion.json
FHIR VersionR4

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Source1

{
  "resourceType": "Observation",
  "id": "mii-exa-molgen-variante-fgfr2-fusion",
  "meta": {
    "profile": [
      "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante|2026.0.4",
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant|3.0.0"
    ]
  },
  "basedOn": [
    {
      "reference": "ServiceRequest/mii-exa-molgen-anforderung-fgfr2-fusion"
    }
  ],
  "status": "final",
  "category": [
    {
      "coding": [
        {
          "system": "http://terminology.hl7.org/CodeSystem/observation-category",
          "code": "laboratory",
          "display": "Laboratory"
        }
      ]
    },
    {
      "coding": [
        {
          "system": "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code": "GE"
        }
      ]
    }
  ],
  "code": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "69548-6",
        "display": "Genetic variant assessment"
      }
    ]
  },
  "subject": {
    "reference": "Patient/mii-exa-molgen-patient-fgfr2-fusion"
  },
  "effectiveDateTime": "2022-11-30",
  "valueCodeableConcept": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "LA9633-4",
        "display": "Present"
      }
    ]
  },
  "method": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "LA26398-0",
        "display": "Sequencing"
      },
      {
        "system": "http://loinc.org",
        "code": "86206-0",
        "display": "Whole genome sequence analysis in Blood or Tissue by Molecular genetics method"
      }
    ]
  },
  "component": [
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48018-6"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://www.genenames.org/geneId",
            "code": "HGNC:3689",
            "display": "FGFR2"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48019-4"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://sequenceontology.org",
            "code": "SO:0001565",
            "display": "gene_fusion"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "95123-6"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://www.genenames.org/geneId",
            "code": "HGNC:3689::HGNC:2697",
            "display": "FGFR2::DBP"
          }
        ]
      }
    }
  ]
}