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Narrative

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Source1

{
  "resourceType": "Observation",
  "id": "mii-exa-molgen-genotyp-2",
  "meta": {
    "profile": [
      "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genotyp|2027.0.0-ballot.1",
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype|3.0.0"
    ]
  },
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "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": "84413-4",
        "display": "Genotype display name"
      }
    ]
  },
  "subject": {
    "reference": "Patient/mii-exa-molgen-patient-2"
  },
  "effectiveDateTime": "2022-03-16",
  "valueCodeableConcept": {
    "text": "NIPBL Variante c.2207del p.(Pro736Glnfs*58) (heterozygot)"
  },
  "method": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "LA26398-0",
        "display": "Sequencing"
      }
    ]
  },
  "specimen": {
    "reference": "Specimen/mii-exa-molgen-specimen-2"
  },
  "device": {
    "reference": "Device/mii-exa-molgen-device-sequencer-2"
  },
  "derivedFrom": [
    {
      "reference": "Observation/mii-exa-molgen-variante-2"
    }
  ],
  "component": [
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48018-6",
            "display": "Gene studied [ID]"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://www.genenames.org/geneId",
            "code": "HGNC:28862",
            "display": "NIPBL"
          }
        ]
      }
    },
    {
      "code": {
        "coding": [
          {
            "system": "http://loinc.org",
            "code": "48001-2",
            "display": "Cytogenetic (chromosome) location"
          }
        ]
      },
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "urn:oid:2.16.840.1.113883.6.335",
            "code": "7q34"
          }
        ]
      }
    }
  ]
}