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Narrative

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Source1

{
  "resourceType": "Observation",
  "id": "mii-exa-seltene-observation-sma-screening",
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "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"
            }
          ]
        }
      ]
    }
  ]
}