Obs-genetics-example3-mutationlist-2.xml

ABCB4 gene mutation analysis - variant 2 (id = "genetics-example3-mutationlist-2")

<Observation xmlns="http://hl7.org/fhir">
    <id value="genetics-example3-mutationlist-2"/>
    
    <text><status value="generated"/><div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative with Details</b></p><p><b>id</b>: genetics-example3-mutationlist-2</p><p><b>status</b>: final</p><p><b>code</b>: ABCB4 gene mutation analysis <span>(Details : {LOINC code '49874-1' = 'ABCB4 gene mutation analysis in Blood or Tissue by
           Molecular genetics method Narrative', given as 'ABCB4 gene mutation analysis'})</span></p><p><b>subject</b>: <a>Molecular Lab Patient ID: HOSP-23456</a></p><p><b>performer</b>: <a>Molecular Diagnostic Laboratory</a></p><p><b>specimen</b>: <a>Molecular Specimen ID: MLD45-Z4-1234</a></p><h3>Components</h3><table><tr><td>-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td>*</td><td>Genetic disease sequence variation interpretation <span>(Details : {LOINC code '53037-8' = 'Genetic disease sequence variation interpretation
               [interpretation] in Blood or Tissue by Molecular genetics method', given as 'Genetic disease
               sequence variation interpretation'})</span></td><td>Benign <span>(Details : {http://www.genenames.org code 'LA6675-8' = '??', given as 'Benign'})</span></td></tr></table></div></text><extension url="http://hl7.org/fhir/StructureDefinition/geneticsDNARegionName">
        <valueString value="Exon 6"/>
    </extension>
    <extension url="http://hl7.org/fhir/StructureDefinition/geneticsAminoAcidChange">
        <valueString value="p.N168N"/>
    </extension>
    <extension url="http://hl7.org/fhir/StructureDefinition/geneticsVariationId">
        <valueCodeableConcept>
            <coding>
                <system value="http://www.ncbi.nlm.nih.gov/projects/SNP"/>
                <code value="1202283"/>
                <display value="c.181T&gt;G"/>
            </coding>
        </valueCodeableConcept>
    </extension>
    
    <status value="final"/>
    <code>
        <coding>
            <system value="http://loinc.org"/>
            <code value="49874-1"/>
            <display value="ABCB4 gene mutation analysis"/>
        </coding>
    </code>
    <subject>
        <reference value="Patient/genetics-example2"/>
        <display value="Molecular Lab Patient ID: HOSP-23456"/>
    </subject>
    <performer>
        <reference value="Practitioner/genetics-example2"/>
        <display value="Molecular Diagnostic Laboratory"/>
    </performer>
    <specimen>
        <reference value="Specimen/genetics-example2"/>
        <display value="Molecular Specimen ID: MLD45-Z4-1234"/>
    </specimen>
    
    <component>
        <code>
            <coding>
                <system value="http://loinc.org"/>
                <code value="53037-8"/>
                <display value="Genetic disease sequence variation interpretation"/>
            </coding>
        </code>
        <valueCodeableConcept>
            <coding>
                <system value="http://www.genenames.org"/>
                <code value="LA6675-8"/>
                <display value="Benign"/>
            </coding>
        </valueCodeableConcept>
    </component>
    
    
</Observation>