{
  "resourceType" : "Observation",
  "id" : "mii-exa-seltene-observation-sma-screening",
  "language" : "de",
  "text" : {
    "status" : "generated",
    "div" : "<div xml:lang=\"de\" lang=\"de\"><hr/><p><b>German</b></p><hr/><p class=\"res-header-id\"><b>Generated Narrative: Observation mii-exa-seltene-observation-sma-screening</b></p><a name=\"de-mii-exa-seltene-observation-sma-screening\"> </a><a name=\"de-hcmii-exa-seltene-observation-sma-screening\"> </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 92005-8}\">Spinal muscular atrophy newborn screening panel</span></p><p><b>subject</b>: <a href=\"Patient-mii-exa-seltene-patient-sma-001.html\">Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)</a></p><p><b>effective</b>: 2024-07-18</p><p><b>value</b>: <span title=\"Codes:{http://snomed.info/sct 260373001}\">Detected</span></p><p><b>interpretation</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation A}\">Abnormal</span></p><p><b>note</b>: </p><blockquote><div><p>Positives SMA-Screening. Konfirmatorische Diagnostik empfohlen.</p>\n</div></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 92004-1}\">Spinal muscular atrophy newborn screen interpretation</span></p><p><b>value</b>: <span title=\"Codes:\">Hinweis auf SMA - SMN1 Exon 7 Deletion nachgewiesen</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 92002-5}\">SMN1 gene [Cycle Threshold #] in DBS by NAA with probe detection</span></p><p><b>value</b>: 0 Ct<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM  code1 = '1')</span></p><p><b>interpretation</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation A}\">Abnormal</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" : "92005-8",
      "display" : "Spinal muscular atrophy newborn screening panel"
    }]
  },
  "subject" : {
    "reference" : "Patient/mii-exa-seltene-patient-sma-001"
  },
  "effectiveDateTime" : "2024-07-18",
  "valueCodeableConcept" : {
    "coding" : [{
      "system" : "http://snomed.info/sct",
      "code" : "260373001",
      "display" : "Detected"
    }]
  },
  "interpretation" : [{
    "coding" : [{
      "system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation",
      "code" : "A",
      "display" : "Abnormal"
    }]
  }],
  "note" : [{
    "text" : "Positives SMA-Screening. Konfirmatorische Diagnostik empfohlen."
  }],
  "component" : [{
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "92004-1",
        "display" : "Spinal muscular atrophy newborn screen interpretation"
      }]
    },
    "valueCodeableConcept" : {
      "text" : "Hinweis auf SMA - SMN1 Exon 7 Deletion nachgewiesen"
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "92002-5",
        "display" : "SMN1 gene [Cycle Threshold #] in DBS by NAA with probe detection"
      }]
    },
    "valueQuantity" : {
      "value" : 0,
      "unit" : "Ct",
      "system" : "http://unitsofmeasure.org",
      "code" : "1"
    },
    "interpretation" : [{
      "coding" : [{
        "system" : "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation",
        "code" : "A",
        "display" : "Abnormal"
      }]
    }]
  }]
}