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" : "PrenatalGenomicStudyCouple",
"meta" : {
"versionId" : "2",
"lastUpdated" : "2024-10-02T03:41:34.767+00:00",
"source" : "#JVN7S7CW0og8nwN0",
"profile" : [
🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study"
]
},
"text" : {
"status" : "extensions",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Procedure PrenatalGenomicStudyCouple</b></p><a name=\"PrenatalGenomicStudyCouple\"> </a><a name=\"hcPrenatalGenomicStudyCouple\"> </a><a name=\"PrenatalGenomicStudyCouple-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: 2; 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.html\">Genomic Study</a></p></div><p><b>Genomic Study Analysis Extension</b>: <a href=\"Procedure-PrenatalGenomicStudyAnalysisFactorXiDeficiencyCouple.html\">Procedure: extension = Germline,GRCh37,,,Copy number variation analysis in Blood or Tissue by Sequencing,Sequence analysis of select exons; status = completed; performed[x] = 2024-06-26; note = factor XI deficiency - F11. Autosomal recessive inheritance. sequencing with copy number analysis. Detection rate: Northern European >99%,No disease-causing mutations were detected in any other gene tested for factor XI deficiency,Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jun 26, 2024,Report content approved by Krista Moyer, MGC on Jun 26, 2024</a></p><p><b>Genomic Study Analysis Extension</b>: <a href=\"Procedure-PrenatalGenomicStudyAnalysisGlycogenStorageDiseaseCouple.html\">Procedure: extension = Germline,GRCh37,,,Copy number variation analysis in Blood or Tissue by Sequencing,Sequence analysis of select exons; status = completed; performed[x] = 2024-06-26; note = glycogen storage disease type III - AGL. Autosomal recessive inheritance. sequencing with copy number analysis. Detection rate: Northern European >99%,No disease-causing mutations were detected in any other gene tested for glycogen storage disease type III,Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jun 26, 2024,Report content approved by Krista Moyer, MGC on Jun 26, 2024</a></p><p><b>Genomic Study Analysis Extension</b>: <a href=\"Procedure-PrenatalGenomicStudyAnalysisHereditaryHemochromatoCouple.html\">Procedure: extension = Germline,GRCh37,,Sequence analysis of select exons; status = completed; performed[x] = 2024-06-26; note = 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</a></p><p><b>Genomic Study Analysis Extension</b>: <a href=\"Procedure-PrenatalGenomicStudyAnalysisPrimaryHyperoxaluriaCouple.html\">Procedure: extension = Germline,GRCh37,,,Copy number variation analysis in Blood or Tissue by Sequencing,Sequence analysis of select exons; status = completed; performed[x] = 2024-06-26; note = primary hyperoxaluria type 1 - AGXT. Autosomal recessive inheritance. sequencing with copy number analysis. Detection rate: Northern European >99%,No disease-causing mutations were detected in any other gene tested for primary hyperoxaluria type 1,Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jun 26, 2024,Report content approved by Krista Moyer, MGC on Jun 26, 2024</a></p><p><b>status</b>: Completed</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>subject</b>: <a href=\"Group-PrenatalGroupPatientFemaleandPatientMale.html\">Group: type = person; actual = true</a></p><p><b>performed</b>: 2024-06-26</p><p><b>reasonCode</b>: <span title=\"Codes:{http://snomed.info/sct 169565003}\">Pregnant - planned (finding)</span></p><p><b>note</b>: The <b>Organization Prenatal Carrier Screen</b> utilizes sequencing, maximizing coverage across all DNA regions tested, to help you learn about your chance to have a child with a genetic disease.</p></div>"
},
"extension" : [
{
"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext",
"valueReference" : {
🔗 "reference" : "Procedure/PrenatalGenomicStudyAnalysisFactorXiDeficiencyCouple"
}
},
{
"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext",
"valueReference" : {
🔗 "reference" : "Procedure/PrenatalGenomicStudyAnalysisGlycogenStorageDiseaseCouple"
}
},
{
"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext",
"valueReference" : {
🔗 "reference" : "Procedure/PrenatalGenomicStudyAnalysisHereditaryHemochromatoCouple"
}
},
{
"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext",
"valueReference" : {
🔗 "reference" : "Procedure/PrenatalGenomicStudyAnalysisPrimaryHyperoxaluriaCouple"
}
}
],
"status" : "completed",
"category" : {
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
}
]
},
"subject" : {
🔗 "reference" : "Group/PrenatalGroupPatientFemaleandPatientMale"
},
"performedDateTime" : "2024-06-26",
"reasonCode" : [
{
"coding" : [
{
"system" : "http://snomed.info/sct",
"code" : "169565003",
"display" : "Pregnant - planned (finding)"
}
]
}
],
"note" : [
{
"text" : "The <b>Organization Prenatal Carrier Screen</b> utilizes sequencing, maximizing coverage across all DNA regions tested, to help you learn about your chance to have a child with a genetic disease."
}
]
}