Cqgc Implementation Guide - Local Development build (v0.1.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
: Ferlab.bio ValueSet/cgh-abnormalities - 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:ValueSet ;
fhir:nodeRole fhir:treeRoot ;
fhir:id [ fhir:v "cgh-abnormalities"] ; #
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: ValueSet cgh-abnormalities</b></p><a name=\"cgh-abnormalities\"> </a><a name=\"hccgh-abnormalities\"> </a><ul><li>Include these codes as defined in <a href=\"CodeSystem-cgh-abnormalities.html\"><code>http://fhir.cqgc.ferlab.bio/CodeSystem/cgh-abnormalities</code></a><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td><td><b>French (fr)</b></td></tr><tr><td><a href=\"CodeSystem-cgh-abnormalities.html#cgh-abnormalities-CNV0\">CNV0</a></td><td>CNV that does not explain the phenotype</td><td>CNV qui n'explique pas le phénotype</td></tr><tr><td><a href=\"CodeSystem-cgh-abnormalities.html#cgh-abnormalities-CNV1\">CNV1</a></td><td>CNV that does explain the phenotype</td><td>CNV qui explique le phénotype</td></tr></table></li></ul></div>"^^rdf:XMLLiteral
] ; #
fhir:url [ fhir:v "http://fhir.cqgc.ferlab.bio/ValueSet/cgh-abnormalities"^^xsd:anyURI] ; #
fhir:version [ fhir:v "0.1.0"] ; #
fhir:name [ fhir:v "cgh-abnormalities"] ; #
fhir:title [ fhir:v "CGH abnormalities"] ; #
fhir:status [ fhir:v "active"] ; #
fhir:experimental [ fhir:v false] ; #
fhir:date [ fhir:v "2025-08-25T15:12:45+00:00"^^xsd:dateTime] ; #
fhir:publisher [ fhir:v "Ferlab.bio"] ; #
fhir:contact ( [
fhir:name [ fhir:v "Cqgc" ] ;
( fhir:telecom [
fhir:system [ fhir:v "email" ] ;
fhir:value [ fhir:v "mailto:support@ferlab.bio" ] ] )
] ) ; #
fhir:description [ fhir:v "CGH abnormalities"] ; #
fhir:compose [
( fhir:include [
fhir:system [ fhir:v "http://fhir.cqgc.ferlab.bio/CodeSystem/cgh-abnormalities"^^xsd:anyURI ] ;
( fhir:concept [
fhir:code [ fhir:v "CNV0" ] ;
fhir:display [ fhir:v "CNV that does not explain the phenotype" ] ;
( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "CNV qui n'explique pas le phénotype" ] ] ) ] [
fhir:code [ fhir:v "CNV1" ] ;
fhir:display [ fhir:v "CNV that does explain the phenotype" ] ;
( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "CNV qui explique le phénotype" ] ] ) ] ) ] )
] . #