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
<Observation xmlns="http://hl7.org/fhir">
<id value="PrenatalVariant1CNVFactorXiDeficiencyPatientMale"/>
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<lastUpdated value="2024-09-25T00:02:13.030+00:00"/>
<source value="#mzuK1EHcvMPipAda"/>
<profile
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"/>
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<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: Observation PrenatalVariant1CNVFactorXiDeficiencyPatientMale</b></p><a name="PrenatalVariant1CNVFactorXiDeficiencyPatientMale"> </a><a name="hcPrenatalVariant1CNVFactorXiDeficiencyPatientMale"> </a><a name="PrenatalVariant1CNVFactorXiDeficiencyPatientMale-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: 2024-09-25 00:02:13+0000; </p><p style="margin-bottom: 0px">Information Source: #mzuK1EHcvMPipAda</p><p style="margin-bottom: 0px">Profile: <a href="http://hl7.org/fhir/uv/genomics-reporting/2024Jan/StructureDefinition-variant.html">Variant</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span>, <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span></p><p><b>code</b>: <span title="Codes:{http://loinc.org 69548-6}">Genetic variant assessment</span></p><p><b>subject</b>: <a href="Patient-PatientMale.html">Higado Sobreviviente (official) Male, DoB: 1996-05-13 ( Patient ID: fec6172efdca41b4a13341e75cb62e0f (use: official, ))</a></p><p><b>effective</b>: 2024-06-26</p><p><b>performer</b>: <a href="Practitioner-PractitionerLabDirector.html">Practitioner PractitionerJane Smith </a></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA9633-4}">Present</span></p><p><b>method</b>: <span title="Codes:{http://loinc.org LA26398-0}">Sequencing</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 53037-8}">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA26332-9}">Likely pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48002-0}">Genomic source class [Type]</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA6683-2}">Germline</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 82155-3}">Genomic structural variant copy number</span></p><p><b>value</b>: 0 1<span style="background: LightGoldenRodYellow"> (Details: UCUM code1 = '1')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48013-7}">Genomic reference sequence identifier</span></p><p><b>value</b>: <span title="Codes:{http://www.ncbi.nlm.nih.gov/refseq NM_000128.3}">NM_000128.3</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48018-6}">Gene studied [ID]</span></p><p><b>value</b>: <span title="Codes:{http://www.genenames.org HGNC:3529}">F11</span></p></blockquote></div>
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<status value="final"/>
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<system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
<code value="GE"/>
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<system value="http://loinc.org"/>
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<display value="Genetic variant assessment"/>
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<subject>🔗
<reference value="Patient/PatientMale"/>
</subject>
<effectiveDateTime value="2024-06-26"/>
<performer>🔗
<reference value="Practitioner/PractitionerLabDirector"/>
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<code value="LA9633-4"/>
<display value="Present"/>
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<code value="LA26398-0"/>
<display value="Sequencing"/>
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<display value="Genetic variation clinical significance [Imp]"/>
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<code value="LA26332-9"/>
<display value="Likely pathogenic"/>
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<code>
<coding>
<system value="http://loinc.org"/>
<code value="48002-0"/>
<display value="Genomic source class [Type]"/>
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<valueCodeableConcept>
<coding>
<system value="http://loinc.org"/>
<code value="LA6683-2"/>
<display value="Germline"/>
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<component>
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<coding>
<system value="http://loinc.org"/>
<code value="82155-3"/>
<display value="Genomic structural variant copy number"/>
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<valueQuantity>
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<system value="http://unitsofmeasure.org"/>
<code value="1"/>
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<system value="http://loinc.org"/>
<code value="48013-7"/>
<display value="Genomic reference sequence identifier"/>
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<code value="NM_000128.3"/>
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