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

: PrenatalGenomicStudyAnalysisHereditaryHemochromatoPatientMale - JSON Representation

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{
  "resourceType" : "Procedure",
  "id" : "PrenatalGenomicStudyAnalysisHereditaryHemochromatoPatientMale",
  "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 PrenatalGenomicStudyAnalysisHereditaryHemochromatoPatientMale</b></p><a name=\"PrenatalGenomicStudyAnalysisHereditaryHemochromatoPatientMale\"> </a><a name=\"hcPrenatalGenomicStudyAnalysisHereditaryHemochromatoPatientMale\"> </a><a name=\"PrenatalGenomicStudyAnalysisHereditaryHemochromatoPatientMale-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-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>: 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"
          }
        ]
      }
    },
    {
      "url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genome-build",
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "LA14029-5",
            "display" : "GRCh37"
          }
        ]
      }
    },
    {
      "extension" : [
        {
          "url" : "description",
          "valueString" : "Genes studied"
        },
        {
          "url" : "studied",
          "valueCodeableConcept" : {
            "coding" : [
              {
                "system" : "http://www.genenames.org",
                "code" : "HGNC:4886",
                "display" : "HFE"
              }
            ]
          }
        }
      ],
      "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"
          }
        ]
      }
    }
  ],
  "status" : "completed",
  "subject" : {
    🔗 "reference" : "Patient/PatientMale"
  },
  "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"
    }
  ]
}