FHIR Osiris Implementation Guide
1.1.0 - trial-implementation
FHIR Osiris Implementation Guide
1.1.0 - trial-implementation
This page is part of the OSIRIS FHIR Implementation Guide (v1.1.0: Release) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions
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<div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: Observation fhir-osiris-annotation-1</b></p><a name="fhir-osiris-annotation-1"> </a><a name="hcfhir-osiris-annotation-1"> </a><a name="fhir-osiris-annotation-1-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"/><p style="margin-bottom: 0px">Profil: <a href="StructureDefinition-variant-annotation.html">Variant Annotation</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></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-L304.html">Patient Anonyme Male, Date de Naissance :1967-11-08</a></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA9633-4}">Present</span></p><p><b>hasMember</b>: </p><ul><li><a href="MolecularSequence-fhir-osiris-genome-entity-1.html">MolecularSequence : extension = C0439673; coordinateSystem = 0</a></li><li><a href="MolecularSequence-fhir-osiris-annotation-reference-1.html">MolecularSequence : coordinateSystem = 0</a></li></ul><p><b>derivedFrom</b>: <a href="Observation-fhir-osiris-example-snp-1.html">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48019-4}">DNA change type</span></p><p><b>value</b>: <span title="Codes:{https://github.com/siric-osiris/OSIRIS O15-4}">O15-4</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:{https://www.genenames.org/ PI3K}">PI3K</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org LP91038-7}">Prediction software</span></p><p><b>value</b>: <span title="Codes:{https://github.com/siric-osiris/OSIRIS SIFT}">SIFT</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org LP70194-3}">Prediction of the variation effect over the protein</span></p><p><b>value</b>: 0.35</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 93044-6}">Confidence score</span></p><p><b>value</b>: Deleterious</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48001-2}">Cytogenetic (chromosome) location</span></p><p><b>value</b>: <span title="Codes:">exon 2</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48005-3}">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title="Codes:{http://varnomen.hgvs.org p.E542K}">p.E542K</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48006-1}">Amino acid change [Type]</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA6698-0}">Missense</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81290-9}">Genomic DNA change (gHGVS)</span></p><p><b>value</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/umls C0439673}">C0439673</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48004-6}">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title="Codes:{http://varnomen.hgvs.org c.1624G>A}">c.1624G>A</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org LP232001-0}">Incidence on the transcript</span></p><p><b>value</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/umls C0439673}">C0439673</span></p></blockquote></div>
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