FHIR IG analytics

Resources that use this resource

No resources found

Resources that this resource uses

No resources found

Narrative

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

Source1

{
  "resourceType": "DiagnosticReport",
  "id": "PrenatalGenomicReportPatientFemale",
  "meta": {
    "profile": [
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report"
    ]
  },
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-reference",
      "valueReference": {
        "reference": "Procedure/PrenatalGenomicStudyPatientFemale",
        "display": "Genomic study"
      }
    },
    {
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment",
      "valueReference": {
        "reference": "RiskAssessment/PrenatalResidualRiskFactorXiDeficiencyPatientFemale",
        "display": "Genomic study"
      }
    },
    {
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment",
      "valueReference": {
        "reference": "RiskAssessment/PrenatalResidualRiskGlycogenStorageDiseasePatientFemale",
        "display": "Genomic study"
      }
    },
    {
      "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment",
      "valueReference": {
        "reference": "RiskAssessment/PrenatalResidualRiskPrimaryHyperoxaluriaPatientFemale",
        "display": "Genomic study"
      }
    }
  ],
  "basedOn": [
    {
      "reference": "ServiceRequest/PrenatalServiceRequestCouple"
    }
  ],
  "status": "final",
  "category": [
    {
      "coding": [
        {
          "system": "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code": "GE",
          "display": "Genetics"
        }
      ]
    }
  ],
  "code": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "51969-4",
        "display": "Genetic analysis report"
      }
    ]
  },
  "subject": {
    "reference": "Patient/PatientFemale"
  },
  "effectiveDateTime": "2024-06-26",
  "performer": [
    {
      "reference": "Organization/Organization"
    },
    {
      "reference": "Practitioner/PractitionerLabDirector"
    }
  ],
  "specimen": [
    {
      "reference": "Specimen/PrenatalSpecimenPatientFemale"
    }
  ],
  "result": [
    {
      "reference": "Observation/PrenatalVariantFactorXiDeficiencyPatientFemale"
    },
    {
      "reference": "Observation/PrenatalVariantGlycogenStorageDiseaseTypePatientFemale"
    },
    {
      "reference": "Observation/PrenatalVariant1SNPHereditaryHemochromatoPatientFemale"
    },
    {
      "reference": "Observation/PrenatalVariant2SNPHereditaryHemochromatoPatientFemale"
    },
    {
      "reference": "Observation/PrenatalVariantPrimaryHyperoxaluriaPatientFemale"
    },
    {
      "reference": "Observation/PrenatalVariant1FragileXSyndromePatientFemale"
    },
    {
      "reference": "Observation/PrenatalVariant2FragileXSyndromePatientFemale"
    },
    {
      "reference": "Observation/PrenatalDiagImpFactorXiDeficiencyPatientFemale",
      "display": "Normal genetic findings (finding)"
    },
    {
      "reference": "Observation/PrenatalDiagImpGlycogenStorageDiseasePatientFemale",
      "display": "Normal genetic findings (finding)"
    },
    {
      "reference": "Observation/PrenatalDiagImpHereditaryHemochromatoPatientFemale",
      "display": "Genetic disease (disorder)"
    },
    {
      "reference": "Observation/PrenatalDiagImpPrimaryHyperoxaluriaPatientFemale",
      "display": "Normal genetic findings (finding)"
    },
    {
      "reference": "Observation/PrenatalDiagImpFragileXSyndromePatientFemale",
      "display": "Genetic disorder carrier (finding)"
    }
  ],
  "conclusion": "Subject's offspring are at increased risk for inheriting the following genetic diseases: HFE-associated hereditary hemochromatosis, and fragile X syndrome",
  "conclusionCode": [
    {
      "coding": [
        {
          "system": "http://loinc.org",
          "code": "LA6576-8",
          "display": "Positive"
        }
      ]
    }
  ]
}