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

• Narrative Content
• XML
• JSON

: PrenatalGenomicStudyAnalysisFragileXSyndromePatientFemale - JSON Representation

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{
  "resourceType" : "Procedure",
  "id" : "PrenatalGenomicStudyAnalysisFragileXSyndromePatientFemale",
  "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 PrenatalGenomicStudyAnalysisFragileXSyndromePatientFemale</b></p><a name=\"PrenatalGenomicStudyAnalysisFragileXSyndromePatientFemale\"> </a><a name=\"hcPrenatalGenomicStudyAnalysisFragileXSyndromePatientFemale\"> </a><a name=\"PrenatalGenomicStudyAnalysisFragileXSyndromePatientFemale-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:3775}\">FMR1</span></li></ul></blockquote><p><b>Genomic Study Analysis Method Type</b>: <span title=\"Codes:{http://loinc.org 36913-2}\">FMR1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method</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>: fragile X syndrome - FMR1. X-linked inheritance (recessive). triplet repeat detection. Detection rate: Northern European &gt;99%, No disease-causing mutations were detected in any other gene tested for fragile X syndrome, 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:3775",
                "display" : "FMR1"
              }
            ]
          }
        }
      ],
      "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://loinc.org",
            "code" : "36913-2",
            "display" : "FMR1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method"
          }
        ]
      }
    }
  ],
  "status" : "completed",
  "subject" : {
    🔗 "reference" : "Patient/PatientFemale"
  },
  "performedDateTime" : "2024-06-26",
  "note" : [
    {
      "text" : "fragile X syndrome - FMR1. X-linked inheritance (recessive). triplet repeat detection. Detection rate: Northern European >99%"
    },
    {
      "text" : "No disease-causing mutations were detected in any other gene tested for fragile X syndrome"
    },
    {
      "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"
    }
  ]
}