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" : "Procedure",
"id" : "PrenatalGenomicStudyAnalysisHereditaryHemochromatoPatientFemale",
"meta" : {
"versionId" : "1",
"lastUpdated" : "2024-10-02T03:41:34.767+00:00",
"source" : "#JVN7S7CW0og8nwN0",
"profile" : [
🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis"
]
},
"text" : {
"status" : "extensions",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Procedure PrenatalGenomicStudyAnalysisHereditaryHemochromatoPatientFemale</b></p><a name=\"PrenatalGenomicStudyAnalysisHereditaryHemochromatoPatientFemale\"> </a><a name=\"hcPrenatalGenomicStudyAnalysisHereditaryHemochromatoPatientFemale\"> </a><a name=\"PrenatalGenomicStudyAnalysisHereditaryHemochromatoPatientFemale-en-US\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">version: 1; Last updated: 2024-10-02 03:41:34+0000; </p><p style=\"margin-bottom: 0px\">Information Source: #JVN7S7CW0og8nwN0</p><p style=\"margin-bottom: 0px\">Profile: <a href=\"http://hl7.org/fhir/uv/genomics-reporting/2024Jan/StructureDefinition-genomic-study-analysis.html\">Genomic Study Analysis</a></p></div><p><b>org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class</b>: <span title=\"Codes:{http://loinc.org LA6683-2}\">Germline</span></p><p><b>Genomic Study Analysis Genome Build</b>: <span title=\"Codes:{http://loinc.org LA14029-5}\">GRCh37</span></p><blockquote><p><b>Genomic Study Analysis Regions</b></p><ul><li>description: Genes studied</li><li>studied: <span title=\"Codes:{http://www.genenames.org HGNC:4886}\">HFE</span></li></ul></blockquote><p><b>Genomic Study Analysis Method Type</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs sequence-analysis-of-select-exons}\">Sequence analysis of select exons</span></p><p><b>status</b>: Completed</p><p><b>subject</b>: <a href=\"Patient-PatientFemale.html\">Jenny M (official) Female, DoB: 1988-02-12 ( Patient ID: 7fb905f171204b94b8ee33d33cb624e6\u00a0(use:\u00a0official,\u00a0))</a></p><p><b>performed</b>: 2024-06-26</p><p><b>note</b>: HFE-associated hereditary hemochromatosis - HFE. Autosomal recessive inheritance. targeted genotyping. Detection rate: Not calculated due to rarity of disease in this individual's reported ethnicity, No disease-causing mutations were detected in any other gene tested for HFE-associated hereditary hemochromatosis, Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jun 26, 2024, Report content approved by Krista Moyer, MGC on Jun 26, 2024</p></div>"
},
"extension" : [
{
"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "LA6683-2",
"display" : "Germline"
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},
{
"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genome-build",
"valueCodeableConcept" : {
"coding" : [
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"system" : "http://loinc.org",
"code" : "LA14029-5",
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{
"extension" : [
{
"url" : "description",
"valueString" : "Genes studied"
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{
"url" : "studied",
"valueCodeableConcept" : {
"coding" : [
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"system" : "http://www.genenames.org",
"code" : "HGNC:4886",
"display" : "HFE"
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}
],
"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions"
},
{
"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type",
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs",
"code" : "sequence-analysis-of-select-exons",
"display" : "Sequence analysis of select exons"
}
]
}
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],
"status" : "completed",
"subject" : {
🔗 "reference" : "Patient/PatientFemale"
},
"performedDateTime" : "2024-06-26",
"note" : [
{
"text" : "HFE-associated hereditary hemochromatosis - HFE. Autosomal recessive inheritance. targeted genotyping. Detection rate: Not calculated due to rarity of disease in this individual's reported ethnicity"
},
{
"text" : "No disease-causing mutations were detected in any other gene tested for HFE-associated hereditary hemochromatosis"
},
{
"text" : "Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jun 26, 2024"
},
{
"text" : "Report content approved by Krista Moyer, MGC on Jun 26, 2024"
}
]
}