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" : "PrenatalGenomicStudyAnalysisGlycogenStorageDiseasePatientMale",
"meta" : {
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"lastUpdated" : "2024-10-02T03:41:34.767+00:00",
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🔗 "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis"
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"status" : "extensions",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Procedure PrenatalGenomicStudyAnalysisGlycogenStorageDiseasePatientMale</b></p><a name=\"PrenatalGenomicStudyAnalysisGlycogenStorageDiseasePatientMale\"> </a><a name=\"hcPrenatalGenomicStudyAnalysisGlycogenStorageDiseasePatientMale\"> </a><a name=\"PrenatalGenomicStudyAnalysisGlycogenStorageDiseasePatientMale-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: Exons sequenced</li><li>studied: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NM_000642}\">Exons: NM_000642:2-34</span></li></ul></blockquote><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:321}\">AGL</span></li></ul></blockquote><p><b>Genomic Study Analysis Method Type</b>: <span title=\"Codes:{http://loinc.org 101397-8}\">Copy number variation analysis in Blood or Tissue by Sequencing</span></p><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-PatientMale.html\">Higado Sobreviviente (official) Male, DoB: 1996-05-13 ( Patient ID: fec6172efdca41b4a13341e75cb62e0f\u00a0(use:\u00a0official,\u00a0))</a></p><p><b>performed</b>: 2024-06-26</p><p><b>note</b>: 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</p></div>"
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"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions"
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"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions"
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"status" : "completed",
"subject" : {
🔗 "reference" : "Patient/PatientMale"
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"performedDateTime" : "2024-06-26",
"note" : [
{
"text" : "glycogen storage disease type III - AGL. Autosomal recessive inheritance. sequencing with copy number analysis. Detection rate: Northern European >99%"
},
{
"text" : "No disease-causing mutations were detected in any other gene tested for glycogen storage disease type III"
},
{
"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"
}
]
}