Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions
<Observation xmlns="http://hl7.org/fhir">
<id value="NOTCH1-significance"/>
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<div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: Observation NOTCH1-significance</b></p><a name="NOTCH1-significance"> </a><a name="hcNOTCH1-significance"> </a><a name="NOTCH1-significance-en-US"> </a><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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}">Diagnostic Implication</span></p><p><b>subject</b>: <a href="Patient-somaticPatient.html">Substance Junior Hamsburg (official) Male, DoB: 1987-09-01 ( Medical record number: 1234567 (use: temp, period: 2021-01-01 --> (ongoing)))</a></p><p><b>effective</b>: 2023-02-01</p><p><b>performer</b>: <a href="Practitioner-pathologistPractitioner.html">Practitioner Test Dolin </a></p><p><b>derivedFrom</b>: <a href="Observation-NOTCH1-uncertain-var.html">Observation Genetic variant assessment</a></p><h3>Components</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style="display: none">*</td><td><span title="Codes:{http://loinc.org 53037-8}">Genetic variation clinical significance [Imp]</span></td><td><span title="Codes:{http://loinc.org LA26333-7}">Uncertain Significance</span></td></tr></table></div>
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<status value="final"/>
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<code value="laboratory"/>
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<category>
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<system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
<code value="GE"/>
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<code>
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<code value="diagnostic-implication"/>
<display value="Diagnostic Implication"/>
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<subject>🔗
<reference value="Patient/somaticPatient"/>
</subject>
<effectiveDateTime value="2023-02-01"/>
<performer>🔗
<reference value="Practitioner/pathologistPractitioner"/>
</performer>
<derivedFrom>🔗
<reference value="Observation/NOTCH1-uncertain-var"/>
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<component>
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<coding>
<system value="http://loinc.org"/>
<code value="53037-8"/>
<display value="Genetic variation clinical significance [Imp]"/>
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<valueCodeableConcept>
<coding>
<system value="http://loinc.org"/>
<code value="LA26333-7"/>
<display value="Uncertain Significance"/>
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</Observation>