GenomeX Data Exchange FHIR IG
0.2.0 - draft
GenomeX Data Exchange FHIR IG, published by MITRE. This guide is not an authorized publication; it is the continuous build for version 0.2.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/CodeX-HL7-FHIR-Accelerator/GenomeX-DataExchange/ and changes regularly. See the Directory of published versions
{
"resourceType" : "DiagnosticReport",
"id" : "PrenatalGenomicReportPatientFemale",
"meta" : {
"profile" : [
🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report"
]
},
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: DiagnosticReport PrenatalGenomicReportPatientFemale</b></p><a name=\"PrenatalGenomicReportPatientFemale\"> </a><a name=\"hcPrenatalGenomicReportPatientFemale\"> </a><a name=\"PrenatalGenomicReportPatientFemale-en-US\"> </a><h2><span title=\"Codes:{http://loinc.org 51969-4}\">Genetic analysis report</span> (<span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span>) </h2><table class=\"grid\"><tr><td>Subject</td><td>Jenny M (official) Female, DoB: 1988-02-12 ( Patient ID: 7fb905f171204b94b8ee33d33cb624e6\u00a0(use:\u00a0official,\u00a0))</td></tr><tr><td>When For</td><td>2024-06-26</td></tr><tr><td>Performers</td><td> <a href=\"Organization-Organization.html\">Organization Generic Laboratories, Inc.</a> <a href=\"Practitioner-PractitionerLabDirector.html\">Practitioner PractitionerJane Smith </a></td></tr></table><p><b>Report Details</b></p><table class=\"grid\"><tr><td><b>Code</b></td><td><b>Value</b></td><td><b>Flags</b></td><td><b>Note</b></td></tr><tr><td><a href=\"Observation-PrenatalVariantFactorXiDeficiencyPatientFemale.html\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9634-2}\">Absent</span></td><td>Final</td><td/></tr><tr><td><a href=\"Observation-PrenatalVariantGlycogenStorageDiseaseTypePatientFemale.html\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9634-2}\">Absent</span></td><td>Final</td><td/></tr><tr><td><a href=\"Observation-PrenatalVariant1SNPHereditaryHemochromatoPatientFemale.html\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></td><td>Final</td><td/></tr><tr><td><a href=\"Observation-PrenatalVariant2SNPHereditaryHemochromatoPatientFemale.html\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></td><td>Final</td><td/></tr><tr><td><a href=\"Observation-PrenatalVariantPrimaryHyperoxaluriaPatientFemale.html\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9634-2}\">Absent</span></td><td>Final</td><td/></tr><tr><td><a href=\"Observation-PrenatalVariant1FragileXSyndromePatientFemale.html\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></td><td>Final</td><td/></tr><tr><td><a href=\"Observation-PrenatalVariant2FragileXSyndromePatientFemale.html\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></td><td>Final</td><td/></tr><tr><td><a href=\"Observation-PrenatalDiagImpFactorXiDeficiencyPatientFemale.html\"><span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</span></a></td><td/><td>Final</td><td/></tr><tr><td><a href=\"Observation-PrenatalDiagImpGlycogenStorageDiseasePatientFemale.html\"><span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</span></a></td><td/><td>Final</td><td/></tr><tr><td><a href=\"Observation-PrenatalDiagImpHereditaryHemochromatoPatientFemale.html\"><span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</span></a></td><td/><td>Final</td><td>Risk not calculated for HFE-associated hereditary hemochromatosis</td></tr><tr><td><a href=\"Observation-PrenatalDiagImpPrimaryHyperoxaluriaPatientFemale.html\"><span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</span></a></td><td/><td>Final</td><td/></tr><tr><td><a href=\"Observation-PrenatalDiagImpFragileXSyndromePatientFemale.html\"><span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</span></a></td><td/><td>Final</td><td>Risk not calculated for fragile X syndrome</td></tr></table><p>Subject's offspring are at increased risk for inheriting the following genetic diseases: HFE-associated hereditary hemochromatosis, and fragile X syndrome</p><p><b>Coded Conclusions:</b></p><ul><li><span title=\"Codes:{http://loinc.org LA6576-8}\">Positive</span></li></ul></div>"
},
"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"
}
]
}
]
}