This page is part of the FHIR Specification (v1.2.0: STU 3 Draft). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions
BRACAnalysis -2 (id = "ob-genetics-3-2")
<Observation xmlns="http://hl7.org/fhir"> <id value="ob-genetics-3-2"/> <text><status value="generated"/><div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative with Details</b></p><p><b>id</b>: ob-genetics-3-2</p><p><b>status</b>: final</p><p><b>code</b>: BRCA2 gene mutation analysis <span>(Details : {LOINC code '38530-2' = 'BCRA2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal', given as 'BRCA2 gene mutation analysis'})</span></p><p><b>subject</b>: <a>Marry Chalmers(MRN: 12345)</a></p><p><b>effective</b>: 26/05/2015 3:30:10 PM</p><p><b>value</b>: Positive <span>(Details : {SNOMED CT code '10828004' = '10828004', given as 'Positive'})</span></p><p><b>method</b>: BRACAnalysis CDx Offered by Myriad Genetic Laboratories, Inc <span>(Details : {http://www.ncbi.nlm.nih.gov/gtr/ code 'GTR000521311.1' = '??', given as 'BRACAnalysis CDx Offered by Myriad Genetic Laboratories, Inc'})</span></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>Pathogenic <span>(Details : {[not stated] code 'LA6668-3' = '??', given as 'Pathogenic'})</span></td></tr></table></div></text><extension url="http://hl7.org/fhir/StructureDefinition/observation-geneticsSequence"> <valueReference> <reference value="#off2"/> </valueReference> </extension> <extension url="http://hl7.org/fhir/StructureDefinition/observation-geneticsVariationHGVS"> <extension url="genomeBuild"> <valueCodeableConcept> <text value="GRCh 38"/> </valueCodeableConcept> </extension> <extension url="name"> <valueCodeableConcept> <text value="185delAG"/> </valueCodeableConcept> </extension> </extension> <status value="final"/> <code> <coding> <system value="http://loinc.org"/> <code value="38530-2"/> <display value="BRCA2 gene mutation analysis"/> </coding> </code> <subject> <reference value="Patient/example"/> <display value="Marry Chalmers(MRN: 12345)"/> </subject> <effectiveDateTime value="2015-05-26T15:30:10+01:00"/> <valueCodeableConcept> <coding> <system value="http://snomed.info/sct"/> <code value="10828004"/> <display value="Positive"/> </coding> </valueCodeableConcept> <method> <coding> <system value="http://www.ncbi.nlm.nih.gov/gtr/"/> <code value="GTR000521311.1"/> <display value="BRACAnalysis CDx Offered by Myriad Genetic Laboratories, Inc"/> </coding> </method> <component> <code> <coding> <system value="http://loinc.org"/> <code value="53037-8"/> <display value="Genetic disease sequence variation interpretation"/> </coding> </code> <valueCodeableConcept> <coding> <code value="LA6668-3"/> <display value="Pathogenic"/> </coding> </valueCodeableConcept> </component> </Observation>
Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.