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Packagehl7.fhir.us.birthdefectreporting
Resource TypeDiagnosticReport
IdDiagnosticReport-DiagnosticGeneticTestResultExample.json
FHIR VersionR4

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Narrative

Note: links and images are rebased to the (stated) source

Generated Narrative: DiagnosticReport DiagnosticGeneticTestResultExample

Chromosome analysis basic associated observations panel - Blood or Tissue by Cytogenetics (Laboratory)

SubjectGene Austin Wellington (official) Male, DoB: 2020-04-28 ( Medical record number)
When For2024-07-05
Reported2024-07-06 11:45:33+0000
Performer XYZ Clinic

Report Details

CodeValueFlagsWhen For
Chromosome analysis result in ISCN expression46,XY,del(5)(q13q33)Final2024-07-06 11:45:33+0000
Pathology report final diagnosis NarrativeDeletion of the long arm of chromosome 5.Final2024-07-06 11:45:33+0000

Deletion of the long arm of chromosome 5.

Source1

{
  "resourceType": "DiagnosticReport",
  "id": "DiagnosticGeneticTestResultExample",
  "meta": {
    "profile": [
      "http://hl7.org/fhir/us/core/StructureDefinition/us-core-diagnosticreport-lab"
    ]
  },
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "status": "final",
  "category": [
    {
      "coding": [
        {
          "system": "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code": "LAB",
          "display": "Laboratory"
        }
      ]
    }
  ],
  "code": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "77314-3",
        "display": "Chromosome analysis basic associated observations panel - Blood or Tissue by Cytogenetics"
      }
    ]
  },
  "subject": {
    "reference": "Patient/PatientChildExample",
    "display": "Child Patient"
  },
  "effectiveDateTime": "2024-07-05",
  "issued": "2024-07-06T11:45:33Z",
  "performer": [
    {
      "reference": "Organization/ClinicSubmitterExample",
      "display": "XYZ Clinic"
    }
  ],
  "specimen": [
    {
      "reference": "Specimen/Specimen1Example"
    }
  ],
  "result": [
    {
      "reference": "Observation/ObservationChromosomeExample"
    },
    {
      "reference": "Observation/ObservationInterpretationExample"
    }
  ],
  "conclusion": "Deletion of the long arm of chromosome 5."
}