PROTECT-CHILD Pediatric Transplant Data Implementation Guide, published by Protect Child. This guide is not an authorized publication; it is the continuous build for version 0.1.0-ci-build built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/hl7-eu/protect-child/ and changes regularly. See the Directory of published versions
: Example Variant Annotation - TTL Representation
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@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
# - resource -------------------------------------------------------------------
a fhir:Basic ;
fhir:nodeRole fhir:treeRoot ;
fhir:id [ fhir:v "variant-annotation-example-1"] ; #
fhir:meta [
( fhir:profile [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation> ] )
] ; #
fhir:text [
fhir:status [ fhir:v "extensions" ] ;
fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Basic variant-annotation-example-1</b></p><a name=\"variant-annotation-example-1\"> </a><a name=\"hcvariant-annotation-example-1\"> </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\">Profile: <a href=\"StructureDefinition-variant-annotation.html\">Variant Annotation</a></p></div><p><b>Variant occurrence ID relationship</b>: <a href=\"Basic-variant-occurrence-example-1.html\">Basic Single nucleotide variant</a></p><p><b>Annotation database</b>: ClinVar</p><p><b>Variant origin</b>: germline</p><p><b>Variant pathogenicity</b>: pathogenic</p><p><b>Variant class level</b>: ACMG Class 5</p><p><b>Variant tier level</b>: Tier 1</p><p><b>Allele frequency</b>: 0.0001</p><p><b>Medication</b>: PARP inhibitor</p><p><b>identifier</b>: <code>https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/NamingSystem/variant-annotation-id</code>/VA0001</p><p><b>code</b>: <span title=\"Codes:{https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/CodeSystem/variant-annotation-type clinical}\">Clinical variant annotation</span></p></div>"^^rdf:XMLLiteral ]
] ; #
fhir:extension ( [
fhir:url [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-variant-occurrence-ref"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-variant-occurrence-ref> ] ;
fhir:value [
a fhir:Reference ;
fhir:l fhir:Basic/variant-occurrence-example-1 ;
fhir:reference [ fhir:v "Basic/variant-occurrence-example-1" ] ]
] [
fhir:url [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-annotation-database"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-annotation-database> ] ;
fhir:value [
a fhir:String ;
fhir:v "ClinVar" ]
] [
fhir:url [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-variant-origin"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-variant-origin> ] ;
fhir:value [
a fhir:String ;
fhir:v "germline" ]
] [
fhir:url [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-variant-pathogeny"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-variant-pathogeny> ] ;
fhir:value [
a fhir:String ;
fhir:v "pathogenic" ]
] [
fhir:url [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-variant-class-level"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-variant-class-level> ] ;
fhir:value [
a fhir:String ;
fhir:v "ACMG Class 5" ]
] [
fhir:url [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-variant-tier-level"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-variant-tier-level> ] ;
fhir:value [
a fhir:String ;
fhir:v "Tier 1" ]
] [
fhir:url [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-allele-frequency"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-allele-frequency> ] ;
fhir:value [
a fhir:Decimal ;
fhir:v 0.0001 ]
] [
fhir:url [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-medication"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-medication> ] ;
fhir:value [
a fhir:String ;
fhir:v "PARP inhibitor" ]
] ) ; #
fhir:identifier ( [
fhir:system [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/NamingSystem/variant-annotation-id"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/NamingSystem/variant-annotation-id> ] ;
fhir:value [ fhir:v "VA0001" ]
] ) ; #
fhir:code [
( fhir:coding [
fhir:system [
fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/CodeSystem/variant-annotation-type"^^xsd:anyURI ;
fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/CodeSystem/variant-annotation-type> ] ;
fhir:code [ fhir:v "clinical" ] ;
fhir:display [ fhir:v "Clinical variant annotation" ] ] )
] . #
