@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:ImplementationGuide ;
fhir:nodeRole fhir:treeRoot ;
fhir:id [ fhir:v "rarelink-ig"] ; #
fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ImplementationGuide rarelink-ig</b></p><a name=\"rarelink-ig\"> </a><a name=\"hcrarelink-ig\"> </a><a name=\"rarelink-ig-en-US\"> </a><h2>RareLinkImplementationGuide</h2><p>The official URL for this implementation guide is: </p><pre>https://github.com/BIH-CEI/RareLink/ImplementationGuide/rarelink-ig</pre><div><p>An Implementation Guide for RareLink Common Data Model, based on the ontology-based rare disease common data model (RD-CDM) harmonising the European Rare Disease Infrastructure Common Data Set, HL7 FHIR R4, and Phenopackets; and integrating the IPS 2.0.2 profiles and Genomics Reporting 3.0.0 profiles.</p>\n</div></div>"^^rdf:XMLLiteral
] ; #
fhir:url [ fhir:v "https://github.com/BIH-CEI/RareLink/ImplementationGuide/rarelink-ig"^^xsd:anyURI] ; #
fhir:version [ fhir:v "2.0.2"] ; #
fhir:name [ fhir:v "RareLinkImplementationGuide"] ; #
fhir:title [ fhir:v "RareLink Implementation Guide"] ; #
fhir:status [ fhir:v "draft"] ; #
fhir:date [ fhir:v "2025-05-08T01:03:44+09:00"^^xsd:dateTime] ; #
fhir:publisher [ fhir:v "Berlin Institute of Health - Charité Universitätsmedizin Berlin"] ; #
fhir:contact ( [
fhir:name [ fhir:v "Berlin Institute of Health - Charité Universitätsmedizin Berlin" ] ;
( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "https://github.com/BIH-CEI/RareLink" ] ] [
fhir:system [ fhir:v "email" ] ;
fhir:value [ fhir:v "adam.graefe@charite.de" ] ] )
] ) ; #
fhir:description [ fhir:v "An Implementation Guide for RareLink Common Data Model, based on the ontology-based rare disease common data model (RD-CDM) harmonising the European Rare Disease Infrastructure Common Data Set, HL7 FHIR R4, and Phenopackets; and integrating the IPS 2.0.2 profiles and Genomics Reporting 3.0.0 profiles.\n"] ; #
fhir:packageId [ fhir:v "rarelink-ig"] ; #
fhir:license [ fhir:v "BSD-3-Clause"] ; #
fhir:fhirVersion ( [ fhir:v "4.0.1"] ) ; #
fhir:dependsOn ( [
fhir:id [ fhir:v "hl7tx" ] ;
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/implementationguide-dependency-comment"^^xsd:anyURI ] ;
fhir:value [
a fhir:markdown ;
fhir:v "Automatically added as a dependency - all IGs depend on HL7 Terminology" ] ] ) ;
fhir:uri [
fhir:v "http://terminology.hl7.org/ImplementationGuide/hl7.terminology"^^xsd:anyURI ;
fhir:link <http://terminology.hl7.org/ImplementationGuide/hl7.terminology> ] ;
fhir:packageId [ fhir:v "hl7.terminology.r4" ] ;
fhir:version [ fhir:v "6.3.0" ]
] [
fhir:id [ fhir:v "hl7ext" ] ;
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/implementationguide-dependency-comment"^^xsd:anyURI ] ;
fhir:value [
a fhir:markdown ;
fhir:v "Automatically added as a dependency - all IGs depend on the HL7 Extension Pack" ] ] ) ;
fhir:uri [
fhir:v "http://hl7.org/fhir/extensions/ImplementationGuide/hl7.fhir.uv.extensions"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/extensions/ImplementationGuide/hl7.fhir.uv.extensions> ] ;
fhir:packageId [ fhir:v "hl7.fhir.uv.extensions.r4" ] ;
fhir:version [ fhir:v "5.2.0" ]
] [
fhir:id [ fhir:v "hl7_fhir_uv_ips" ] ;
fhir:uri [
fhir:v "http://hl7.org/fhir/uv/ips/ImplementationGuide/hl7.fhir.uv.ips"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/ips/ImplementationGuide/hl7.fhir.uv.ips> ] ;
fhir:packageId [ fhir:v "hl7.fhir.uv.ips" ] ;
fhir:version [ fhir:v "2.0.2-ballot" ]
] [
fhir:id [ fhir:v "hl7_fhir_uv_genomics_reporting" ] ;
fhir:uri [
fhir:v "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/hl7.fhir.uv.genomics-reporting"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/hl7.fhir.uv.genomics-reporting> ] ;
fhir:packageId [ fhir:v "hl7.fhir.uv.genomics-reporting" ] ;
fhir:version [ fhir:v "3.0.0" ]
] ) ; #
fhir:definition [
( fhir:extension [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "copyrightyear" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "2025" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "releaselabel" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "2.0.2" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "autoload-resources" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "true" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "path-liquid" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "template/liquid" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "path-liquid" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "input/liquid" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "path-qa" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "temp/qa" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "path-temp" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "temp/pages" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "path-output" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "output" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "path-suppressed-warnings" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "input/ignoreWarnings.txt" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "path-history" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "https://github.com/BIH-CEI/RareLink/history.html" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "template-html" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "template-page.html" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "template-md" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "template-page-md.html" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "apply-contact" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "true" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "apply-context" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "true" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "apply-copyright" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "true" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "apply-jurisdiction" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "true" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "apply-license" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "true" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "apply-publisher" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "true" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "apply-version" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "true" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "apply-wg" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "true" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "active-tables" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "true" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "fmm-definition" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "http://hl7.org/fhir/versions.html#maturity" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "propagate-status" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "true" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "excludelogbinaryformat" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "true" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "tabbed-snapshots" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "true" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-internal-dependency"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "hl7.fhir.uv.tools.r4#0.5.0" ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "copyrightyear" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "2025" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "releaselabel" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "2.0.2" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "autoload-resources" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "true" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "path-liquid" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "template/liquid" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "path-liquid" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "input/liquid" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "path-qa" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "temp/qa" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "path-temp" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "temp/pages" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "path-output" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "output" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "path-suppressed-warnings" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "input/ignoreWarnings.txt" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "path-history" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "https://github.com/BIH-CEI/RareLink/history.html" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "template-html" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "template-page.html" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "template-md" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "template-page-md.html" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "apply-contact" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "true" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "apply-context" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "true" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "apply-copyright" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "true" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "apply-jurisdiction" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "true" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "apply-license" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "true" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "apply-publisher" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "true" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "apply-version" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "true" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "apply-wg" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "true" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "active-tables" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "true" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "fmm-definition" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "http://hl7.org/fhir/versions.html#maturity" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "propagate-status" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "true" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "excludelogbinaryformat" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "true" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] [
( fhir:extension [
fhir:url [ fhir:v "code"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "tabbed-snapshots" ] ] [
fhir:url [ fhir:v "value"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "true" ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-parameter"^^xsd:anyURI ] ] ) ;
( fhir:resource [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:extension" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/age-at-diagnosis" ] ] ;
fhir:name [ fhir:v "Age at Diagnosis" ] ;
fhir:description [ fhir:v "ERDRI-CDS - The age at which the condition was diagnosed." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "ValueSet" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "ValueSet/age-at-diagnosis-vs" ] ] ;
fhir:name [ fhir:v "Age at Diagnosis Value Set" ] ;
fhir:description [ fhir:v "Value set for capturing age at diagnosis." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:extension" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/age-at-onset" ] ] ;
fhir:name [ fhir:v "Age at Onset" ] ;
fhir:description [ fhir:v "ERDRI-CDS - The age at which the condition first appeared." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "ValueSet" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "ValueSet/age-at-onset-vs" ] ] ;
fhir:name [ fhir:v "Age at Onset Value Set" ] ;
fhir:description [ fhir:v "Value set for capturing age at onset." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "ValueSet" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "ValueSet/age-category-vs" ] ] ;
fhir:name [ fhir:v "Age Category Value Set" ] ;
fhir:description [ fhir:v "Value set for capturing the age category of a patient." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "ValueSet" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "ValueSet/age-of-onset-vs" ] ] ;
fhir:name [ fhir:v "Age of Onset Value Set" ] ;
fhir:description [ fhir:v "Value set for capturing the age of onset for phenotypes." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:extension" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/agreement-to-be-contacted" ] ] ;
fhir:name [ fhir:v "Agreement to Be Contacted" ] ;
fhir:description [ fhir:v "ERDRI-CDS - Agreement to be contacted for research purposes." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "ValueSet" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "ValueSet/agreement-to-be-contacted-vs" ] ] ;
fhir:name [ fhir:v "Agreement to Be Contacted Value Set" ] ;
fhir:description [ fhir:v "Value set for capturing agreement to be contacted for research." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:extension" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/birthplace" ] ] ;
fhir:name [ fhir:v "Birth Place" ] ;
fhir:description [ fhir:v "The patient's place of birth." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:extension" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/cause-of-death" ] ] ;
fhir:name [ fhir:v "Cause of Death" ] ;
fhir:description [ fhir:v "The cause of death for the patient." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:extension" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/cause-of-death-code" ] ] ;
fhir:name [ fhir:v "Cause of Death Code" ] ;
fhir:description [ fhir:v "The ICD-10 code representing the cause of death." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:extension" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/cause-of-death-definition" ] ] ;
fhir:name [ fhir:v "Cause of Death Definition" ] ;
fhir:description [ fhir:v "The SNOMED CT definition of the cause of death concept." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "ValueSet" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "ValueSet/clinical-significance-vs" ] ] ;
fhir:name [ fhir:v "Clinical Significance Value Set" ] ;
fhir:description [ fhir:v "LOINC LA codes for the clinical significance of a variant." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:extension" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/consanguinity" ] ] ;
fhir:name [ fhir:v "Consanguinity" ] ;
fhir:description [ fhir:v "Indicates whether there is consanguinity in the family relationship." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "ValueSet" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "ValueSet/consanguinity-vs" ] ] ;
fhir:name [ fhir:v "Consanguinity Value Set" ] ;
fhir:description [ fhir:v "Value set for indicating whether there is consanguinity in the family relationship." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:extension" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/consent-to-reuse-data" ] ] ;
fhir:name [ fhir:v "Consent to Reuse Data" ] ;
fhir:description [ fhir:v "ERDRI-CDS - Consent to the reuse of data." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "ValueSet" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "ValueSet/consent-to-reuse-vs" ] ] ;
fhir:name [ fhir:v "Consent to Reuse Data Value Set" ] ;
fhir:description [ fhir:v "Value set for capturing consent to reuse data." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:extension" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/date-of-admission" ] ] ;
fhir:name [ fhir:v "Date of Admission" ] ;
fhir:description [ fhir:v "The date of the patient's admission." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "ValueSet" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "ValueSet/dna-change-type-vs" ] ] ;
fhir:name [ fhir:v "DNA Change Type Value Set" ] ;
fhir:description [ fhir:v "LOINC LA codes enumerating various DNA change types." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "ValueSet" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "ValueSet/encounter-class-vs" ] ] ;
fhir:name [ fhir:v "Encounter Class Value Set" ] ;
fhir:description [ fhir:v "Value set for encounter classes, including custom RareLink-specific codes." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "ValueSet" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "ValueSet/family-sex-vs" ] ] ;
fhir:name [ fhir:v "Family Member Sex Value Set" ] ;
fhir:description [ fhir:v "Value set for capturing the sex of a family member." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "ValueSet" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "ValueSet/family-relationship-vs" ] ] ;
fhir:name [ fhir:v "Family Relationship Value Set" ] ;
fhir:description [ fhir:v "Value set for capturing family member relationships." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "ValueSet" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "ValueSet/genomic-source-class-vs" ] ] ;
fhir:name [ fhir:v "Genomic Source Class Value Set" ] ;
fhir:description [ fhir:v "LOINC LA codes enumerating germline, somatic, fetal, etc." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "ValueSet" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "ValueSet/karyotypic-sex-vs" ] ] ;
fhir:name [ fhir:v "Karyotypic Sex Value Set" ] ;
fhir:description [ fhir:v "Value set for capturing karyotypic sex." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "ValueSet" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "ValueSet/level-of-evidence-vs" ] ] ;
fhir:name [ fhir:v "Level of Evidence Value Set" ] ;
fhir:description [ fhir:v "LOINC LA codes describing evidence strength for a variant." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:extension" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/phenotype-modifier" ] ] ;
fhir:name [ fhir:v "Phenotype Modifier" ] ;
fhir:description [ fhir:v "Captures modifiers for the phenotypic feature, such as severity or specific classifications." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "ValueSet" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "ValueSet/phenotypie-severity-vs" ] ] ;
fhir:name [ fhir:v "Phenotype Severity Value Set" ] ;
fhir:description [ fhir:v "Value set for capturing phenotype severity." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:extension" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/phenotype-status" ] ] ;
fhir:name [ fhir:v "Phenotype Status" ] ;
fhir:description [ fhir:v "Captures the status of a phenotypic feature, such as confirmed present or refuted." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "ValueSet" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "ValueSet/phenotype-status-vs" ] ] ;
fhir:name [ fhir:v "Phenotype Status Value Set" ] ;
fhir:description [ fhir:v "Value set for capturing phenotype status." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:extension" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/propositus" ] ] ;
fhir:name [ fhir:v "Propositus" ] ;
fhir:description [ fhir:v "Indicates whether the family member is the propositus." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "ValueSet" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "ValueSet/propositus-vs" ] ] ;
fhir:name [ fhir:v "Propositus Value Set" ] ;
fhir:description [ fhir:v "Value set for indicating whether the family member is the propositus." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:resource" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/rarelink-condition-undiagnosed-rd-case" ] ] ;
fhir:name [ fhir:v "RareLink Condition for Undiagnosed RD Case" ] ;
fhir:description [ fhir:v "A RareLink-specific Condition profile for documenting undiagnosed rare disease cases based on the IPS Condition profile." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:resource" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/rarelink-consent" ] ] ;
fhir:name [ fhir:v "RareLink Consent" ] ;
fhir:description [ fhir:v "A RareLink-specific Consent profile based on the Consent resource." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:resource" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/rarelink-diagnostic-implication" ] ] ;
fhir:name [ fhir:v "RareLink Diagnostic Implication Observation" ] ;
fhir:description [ fhir:v "\n A RareLink-specific profile extending the HL7 Genomics Reporting 'diagnostic-implication' profile \n for documenting diagnostic significance, evidence levels, and associated phenotypes \n (genetic_findings.diagnostic_implication)." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:resource" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/rarelink-encounter" ] ] ;
fhir:name [ fhir:v "RareLink Encounter" ] ;
fhir:description [ fhir:v "A RareLink-specific Encounter profile based on the Encounter resource." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:resource" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/rarelink-familyhistory" ] ] ;
fhir:name [ fhir:v "RareLink Family History" ] ;
fhir:description [ fhir:v "A RareLink-specific FamilyMemberHistory profile based on the FamilyMemberHistory resource." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:resource" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/rarelink-genetic-variant" ] ] ;
fhir:name [ fhir:v "RareLink Genetic Variant Observation" ] ;
fhir:description [ fhir:v "\n A RareLink-specific profile for documenting genetic findings \n (genetic_findings.variant), based on the HL7 Genomics Reporting variant profile." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:resource" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/rarelink-ips-condition" ] ] ;
fhir:name [ fhir:v "RareLink IPS Condition" ] ;
fhir:description [ fhir:v "A RareLink-specific Condition profile based on the IPS Condition profile." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:resource" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/rarelink-ips-measurement-laboratory" ] ] ;
fhir:name [ fhir:v "RareLink IPS Measurement Laboratory" ] ;
fhir:description [ fhir:v "A RareLink-specific profile for laboratory measurements based on the IPS Observation profile." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:resource" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/rarelink-ips-measurement-radiology" ] ] ;
fhir:name [ fhir:v "RareLink IPS Measurement Radiology" ] ;
fhir:description [ fhir:v "A RareLink-specific profile for radiology measurements based on the IPS Observation profile." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:resource" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/rarelink-ips-patient" ] ] ;
fhir:name [ fhir:v "RareLink IPS Patient" ] ;
fhir:description [ fhir:v "A RareLink-specific profile for the IPS Patient resource." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:resource" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/rarelink-ips-procedure" ] ] ;
fhir:name [ fhir:v "RareLink IPS Procedure" ] ;
fhir:description [ fhir:v "A RareLink-specific profile for the IPS Procedure resource." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:resource" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/rarelink-observation-age-category" ] ] ;
fhir:name [ fhir:v "RareLink Observation Age Category" ] ;
fhir:description [ fhir:v "A RareLink-specific profile for capturing the age category of\n a patient as an observation, based on the ERDRI-CDS value set." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:resource" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/rarelink-observation-gestation-at-birth" ] ] ;
fhir:name [ fhir:v "RareLink Observation Gestation at Birth" ] ;
fhir:description [ fhir:v "A RareLink-specific profile for capturing gestation length at birth." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:resource" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/rarelink-karyotypic-sex" ] ] ;
fhir:name [ fhir:v "RareLink Observation Karyotypic Sex" ] ;
fhir:description [ fhir:v "A RareLink-specific profile for capturing karyotypic sex information." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:resource" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/rarelink-observation-measurements-others" ] ] ;
fhir:name [ fhir:v "RareLink Observation Measurements (Others)" ] ;
fhir:description [ fhir:v "A RareLink-specific profile for measurements that do not fall under IPS laboratory, radiology, procedures, or vital signs." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:resource" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/rarelink-phenotypic-feature" ] ] ;
fhir:name [ fhir:v "RareLink Observation Phenotypic Feature" ] ;
fhir:description [ fhir:v "A RareLink-specific profile for capturing phenotypic features." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:resource" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/rarelink-observation-vital-signs" ] ] ;
fhir:name [ fhir:v "RareLink Vital Signs Measurements" ] ;
fhir:description [ fhir:v "A RareLink-specific profile for vital signs measurements." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:extension" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/recorded-sex-at-birth" ] ] ;
fhir:name [ fhir:v "Recorded Sex at Birth" ] ;
fhir:description [ fhir:v "The sex assigned to the patient at birth." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "ValueSet" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "ValueSet/reference-genome-vs" ] ] ;
fhir:name [ fhir:v "Reference Genome Value Set" ] ;
fhir:description [ fhir:v "LOINC LA codes specifying the reference genome build." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:extension" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/resolution-date" ] ] ;
fhir:name [ fhir:v "Resolution Date" ] ;
fhir:description [ fhir:v "The date when the phenotypic feature resolved." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "ValueSet" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "ValueSet/severity-vs" ] ] ;
fhir:name [ fhir:v "Severity Value Set" ] ;
fhir:description [ fhir:v "Value set for severity levels of conditions." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "ValueSet" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "ValueSet/sex-at-birth-vs" ] ] ;
fhir:name [ fhir:v "Sex at Birth Value Set" ] ;
fhir:description [ fhir:v "Value set for capturing the sex assigned at birth." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "ValueSet" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "ValueSet/structural-variant-method-vs" ] ] ;
fhir:name [ fhir:v "Structural Variant Method Value Set" ] ;
fhir:description [ fhir:v "LOINC LA codes enumerating methods for detecting structural variants." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "ValueSet" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "ValueSet/temporal-pattern-vs" ] ] ;
fhir:name [ fhir:v "Temporal Pattern Value Set" ] ;
fhir:description [ fhir:v "Value set for capturing the temporal pattern of phenotypic features." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "ValueSet" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "ValueSet/undiagnosed-rd-case-vs" ] ] ;
fhir:name [ fhir:v "Undiagnosed Rare Disease Case Value Set" ] ;
fhir:description [ fhir:v "Value set for capturing undiagnosed rare disease cases." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "StructureDefinition:extension" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "StructureDefinition/vital-status" ] ] ;
fhir:name [ fhir:v "Vital Status" ] ;
fhir:description [ fhir:v "Coded representation of a patient's vital status" ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "ValueSet" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "ValueSet/vital-status-vs" ] ] ;
fhir:name [ fhir:v "Vital Status Value Set" ] ;
fhir:description [ fhir:v "Value set for capturing the vital status of the patient." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/resource-information"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "ValueSet" ] ] ) ;
fhir:reference [
fhir:reference [ fhir:v "ValueSet/zygosity-vs" ] ] ;
fhir:name [ fhir:v "Zygosity Value Set" ] ;
fhir:description [ fhir:v "LOINC LA codes enumerating various zygosity states." ] ;
fhir:example [
a fhir:boolean ;
fhir:v false ] ] ) ;
fhir:page [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-page-name"^^xsd:anyURI ] ;
fhir:value [
a fhir:url ;
fhir:v "toc.html"^^xsd:anyURI ] ] ) ;
fhir:name [
a fhir:url ;
fhir:v "toc.html"^^xsd:anyURI ] ;
fhir:title [ fhir:v "Table of Contents" ] ;
fhir:generation [ fhir:v "html" ] ;
( fhir:page [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-page-name"^^xsd:anyURI ] ;
fhir:value [
a fhir:url ;
fhir:v "index.html"^^xsd:anyURI ] ] ) ;
fhir:name [
a fhir:url ;
fhir:v "index.html"^^xsd:anyURI ] ;
fhir:title [ fhir:v "Home" ] ;
fhir:generation [ fhir:v "markdown" ] ] [
( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/tools/StructureDefinition/ig-page-name"^^xsd:anyURI ] ;
fhir:value [
a fhir:url ;
fhir:v "downloads.html"^^xsd:anyURI ] ] ) ;
fhir:name [
a fhir:url ;
fhir:v "downloads.html"^^xsd:anyURI ] ;
fhir:title [ fhir:v "Downloads" ] ;
fhir:generation [ fhir:v "markdown" ] ] ) ] ;
( fhir:parameter [
fhir:code [ fhir:v "path-resource" ] ;
fhir:value [ fhir:v "input/capabilities" ] ] [
fhir:code [ fhir:v "path-resource" ] ;
fhir:value [ fhir:v "input/examples" ] ] [
fhir:code [ fhir:v "path-resource" ] ;
fhir:value [ fhir:v "input/extensions" ] ] [
fhir:code [ fhir:v "path-resource" ] ;
fhir:value [ fhir:v "input/models" ] ] [
fhir:code [ fhir:v "path-resource" ] ;
fhir:value [ fhir:v "input/operations" ] ] [
fhir:code [ fhir:v "path-resource" ] ;
fhir:value [ fhir:v "input/profiles" ] ] [
fhir:code [ fhir:v "path-resource" ] ;
fhir:value [ fhir:v "input/resources" ] ] [
fhir:code [ fhir:v "path-resource" ] ;
fhir:value [ fhir:v "input/vocabulary" ] ] [
fhir:code [ fhir:v "path-resource" ] ;
fhir:value [ fhir:v "input/maps" ] ] [
fhir:code [ fhir:v "path-resource" ] ;
fhir:value [ fhir:v "input/testing" ] ] [
fhir:code [ fhir:v "path-resource" ] ;
fhir:value [ fhir:v "input/history" ] ] [
fhir:code [ fhir:v "path-resource" ] ;
fhir:value [ fhir:v "fsh-generated/resources" ] ] [
fhir:code [ fhir:v "path-pages" ] ;
fhir:value [ fhir:v "template/config" ] ] [
fhir:code [ fhir:v "path-pages" ] ;
fhir:value [ fhir:v "input/images" ] ] [
fhir:code [ fhir:v "path-tx-cache" ] ;
fhir:value [ fhir:v "input-cache/txcache" ] ] )
] . #