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" : "PrenatalGenomicStudyPatientMale",
"meta" : {
"versionId" : "2",
"lastUpdated" : "2024-10-02T03:41:29.698+00:00",
"source" : "#DEqMJP5Koyub2naR",
"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 PrenatalGenomicStudyPatientMale</b></p><a name=\"PrenatalGenomicStudyPatientMale\"> </a><a name=\"hcPrenatalGenomicStudyPatientMale\"> </a><a name=\"PrenatalGenomicStudyPatientMale-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 03:41:29+0000; </p><p style=\"margin-bottom: 0px\">Information Source: #DEqMJP5Koyub2naR</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-PrenatalGenomicStudyAnalysisAutosomalRecessiveSAoCSPatientMale.html\">Procedure: extension = Germline,GRCh37,,,Copy number variation analysis in Blood or Tissue by Sequencing,Sequence analysis of select exons; status = completed; performed[x] = 2024-07-09; note = autosomal recessive spastic ataxia of Charlevoix-Saguenay - SACS. 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 autosomal recessive spastic ataxia of Charlevoix-Saguenay,Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jul 9, 2024,Report content approved by Krista Moyer, MGC on Jul 9, 2024</a></p><p><b>Genomic Study Analysis Extension</b>: <a href=\"Procedure-PrenatalGenomicStudyAnalysisFamilialHyperinsulinismPatientMale.html\">Procedure: extension = Germline,GRCh37,,,Copy number variation analysis in Blood or Tissue by Sequencing,Sequence analysis of select exons; status = completed; performed[x] = 2024-07-09; note = familial hyperinsulinism, ABCC8-related - ABCC8. 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 familial hyperinsulinism, ABCC8-related,Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jul 9, 2024,Report content approved by Krista Moyer, MGC on Jul 9, 2024</a></p><p><b>Genomic Study Analysis Extension</b>: <a href=\"Procedure-PrenatalGenomicStudyAnalysisAlpha1ADPatientMale.html\">Procedure: extension = Germline,GRCh37,,,Copy number variation analysis in Blood or Tissue by Sequencing,Sequence analysis of select exons; status = completed; performed[x] = 2024-07-09; note = alpha-1 antitrypsin deficiency - SERPINA1. 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 alpha-1 antitrypsin deficiency,Report content approved by PractitionerJane Smith, PhD, FACMG, CGMB on Jul 9, 2024,Report content approved by Krista Moyer, MGC on Jul 9, 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=\"Patient-PatientMale.html\">Higado Sobreviviente (official) Male, DoB: 1996-05-13 ( Patient ID: fec6172efdca41b4a13341e75cb62e0f\u00a0(use:\u00a0official,\u00a0))</a></p><p><b>performed</b>: 2024-07-09</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/PrenatalGenomicStudyAnalysisAutosomalRecessiveSAoCSPatientMale"
}
},
{
"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext",
"valueReference" : {
🔗 "reference" : "Procedure/PrenatalGenomicStudyAnalysisFamilialHyperinsulinismPatientMale"
}
},
{
"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext",
"valueReference" : {
🔗 "reference" : "Procedure/PrenatalGenomicStudyAnalysisAlpha1ADPatientMale"
}
}
],
"status" : "completed",
"category" : {
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
}
]
},
"subject" : {
🔗 "reference" : "Patient/PatientMale"
},
"performedDateTime" : "2024-07-09",
"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."
}
]
}