{
  "resourceType" : "Observation",
  "id" : "mii-exa-seltene-molgen-variant-smn1-deletion",
  "language" : "en",
  "text" : {
    "status" : "generated",
    "div" : "<div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><p class=\"res-header-id\"><b>Generated Narrative: Observation mii-exa-seltene-molgen-variant-smn1-deletion</b></p><a name=\"mii-exa-seltene-molgen-variant-smn1-deletion\"> </a><a name=\"hcmii-exa-seltene-molgen-variant-smn1-deletion\"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"Patient-mii-exa-seltene-patient.html\">Max Mustermann (official) Male, DoB: 1990-01-01 ( http://test-krankenhaus.de/fhir/sid/patienten#12345)</a></p><p><b>effective</b>: 2024-07-26</p><p><b>value</b>: <span title=\"Codes:{http://snomed.info/sct 10828004}\">Positive</span></p><p><b>interpretation</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation POS}\">Positive</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:11117}\">SMN1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48002-0}\">Genomic source class</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6683-2}\">Germline</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53034-5}\">Allelic state</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6705-3}\">Homozygous</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:\">Copy Number</span></p><p><b>value</b>: 0</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53037-8}\">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6668-3}\">Pathogenic</span></p></blockquote></div>"
  },
  "status" : "final",
  "category" : [{
    "coding" : [{
      "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
      "code" : "laboratory"
    }]
  }],
  "code" : {
    "coding" : [{
      "system" : "http://loinc.org",
      "code" : "69548-6",
      "display" : "Genetic variant assessment"
    }]
  },
  "subject" : {
    "reference" : "Patient/mii-exa-seltene-patient"
  },
  "effectiveDateTime" : "2024-07-26",
  "valueCodeableConcept" : {
    "coding" : [{
      "system" : "http://snomed.info/sct",
      "code" : "10828004",
      "display" : "Positive"
    }]
  },
  "interpretation" : [{
    "coding" : [{
      "system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation",
      "code" : "POS",
      "display" : "Positive"
    }]
  }],
  "component" : [{
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "48018-6",
        "display" : "Gene studied [ID]"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://www.genenames.org/geneId",
        "code" : "HGNC:11117",
        "display" : "SMN1"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "48002-0",
        "display" : "Genomic source class"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "LA6683-2",
        "display" : "Germline"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "53034-5",
        "display" : "Allelic state"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "LA6705-3",
        "display" : "Homozygous"
      }]
    }
  },
  {
    "code" : {
      "text" : "Copy Number"
    },
    "valueInteger" : 0
  },
  {
    "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"
      }]
    }
  }]
}