FHIR Osiris Implementation Guide
2.1.0 - ci-build
FHIR Osiris Implementation Guide
2.1.0 - ci-build
FHIR Osiris Implementation Guide - Local Development build (v2.1.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
{
"resourceType" : "Observation",
"id" : "fhir-osiris-annotation-1",
"meta" : {
"profile" : [
🔗 "https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/StructureDefinition/variant-annotation"
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"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Observation</b><a name=\"fhir-osiris-annotation-1\"> </a><a name=\"hcfhir-osiris-annotation-1\"> </a></p><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\">Resource Observation "fhir-osiris-annotation-1" </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-variant-annotation.html\">Variant Annotation</a></p></div><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span></p><p><b>code</b>: Genetic var assess <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#69548-6)</span></p><p><b>subject</b>: <a href=\"Patient-L304.html\">Patient/L304</a></p><p><b>value</b>: Present <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA9633-4)</span></p><p><b>hasMember</b>: </p><ul><li><a href=\"MolecularSequence-fhir-osiris-genome-entity-1.html\">MolecularSequence/fhir-osiris-genome-entity-1</a></li><li><a href=\"MolecularSequence-fhir-osiris-annotation-reference-1.html\">MolecularSequence/fhir-osiris-annotation-reference-1</a></li></ul><p><b>derivedFrom</b>: <a href=\"Observation-fhir-osiris-example-snp-1.html\">Observation/fhir-osiris-example-snp-1</a></p><blockquote><p><b>component</b></p><p><b>code</b>: DNA Change Type <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#48019-4)</span></p><p><b>value</b>: O15-4 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (OSIRIS#O15-4)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Gene studied ID <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#48018-6)</span></p><p><b>value</b>: PI3K <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (#PI3K)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Prediction software <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LP91038-7)</span></p><p><b>value</b>: SIFT <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (OSIRIS#SIFT)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Prediction of the variation effect over the protein <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LP70194-3)</span></p><p><b>value</b>: 0.35</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Confidence score <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#93044-6)</span></p><p><b>value</b>: Deleterious</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Cyto loc ID <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#48001-2)</span></p><p><b>value</b>: exon 2 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> ()</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Amino acid change <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#48005-3)</span></p><p><b>value</b>: p.E542K <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v3-hgvs.html\">Human Genome Variation Society nomenclature</a>#p.E542K)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Amino acid change type <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#48006-1)</span></p><p><b>value</b>: Missense <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA6698-0)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Struct var HGVS name <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#81290-9)</span></p><p><b>value</b>: C0439673 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-umls.html\">Unified Medical Language System</a>#C0439673)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: DNA change <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#48004-6)</span></p><p><b>value</b>: c.1624G>A <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v3-hgvs.html\">Human Genome Variation Society nomenclature</a>#c.1624G>A)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Incidence on the transcript <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LP232001-0)</span></p><p><b>value</b>: C0439673 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-umls.html\">Unified Medical Language System</a>#C0439673)</span></p></blockquote></div>"
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🔗 "reference" : "Patient/L304"
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🔗 "reference" : "MolecularSequence/fhir-osiris-genome-entity-1"
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🔗 "reference" : "MolecularSequence/fhir-osiris-annotation-reference-1"
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🔗 "reference" : "Observation/fhir-osiris-example-snp-1"
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"text" : "Confidence score"
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IG © 2020+ Arkhn. Package arkhn.fhir.uv.osiris#2.1.0 based on FHIR 4.0.1. Generated 2024-03-21
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