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Narrative

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Source1

{
  "resourceType": "Observation",
  "id": "mii-exa-molgen-molekulare-konsequenz-brca1",
  "meta": {
    "profile": [
      "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-pr-molgen-molekulare-konsequenz",
      "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/molekulare-konsequenz|2027.0.0-ballot.1",
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence|3.0.0"
    ]
  },
  "text": {
    "status": "extensions",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact",
      "valueRelatedArtifact": {
        "type": "citation",
        "citation": "Richards et al., Genet Med. 2015; 17:405-24",
        "url": "https://pubmed.ncbi.nlm.nih.gov/25741868/"
      }
    }
  ],
  "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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
        "code": "molecular-consequence",
        "display": "Molecular Consequence"
      }
    ]
  },
  "subject": {
    "reference": "Patient/mii-exa-molgen-patient-brca1"
  },
  "effectiveDateTime": "2022-11-01",
  "performer": [
    {
      "reference": "Practitioner/mii-exa-molgen-practitioner-lab"
    }
  ],
  "derivedFrom": [
    {
      "reference": "Observation/mii-exa-molgen-variante-brca1"
    }
  ],
  "component": [
    {
      "code": {
        "coding": [
          {
            "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
            "code": "conclusion-string"
          }
        ]
      },
      "valueString": "Nachweis heterozygoter Sequenzveränderung, die zum Funktionsverlust führt"
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "53037-8",
            "display": "Genetic variation clinical significance [Imp]"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "LA6668-3",
            "display": "Pathogenic"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
            "code": "functional-effect"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://sequenceontology.org",
            "code": "SO:0002054",
            "display": "loss_of_function_variant"
          }
        ],
        "text": "Funktionsverlust des Genprodukts"
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "93044-6"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/clinvar-evidence-level-custom-cs",
            "code": "2-star",
            "display": "2 star"
          }
        ]
      }
    }
  ]
}