Coforix FHIR Implementation Guide
0.1.0 - CI Build Netherlands

Coforix FHIR Implementation Guide - Local Development build (v0.1.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

## : CDT Condition Value Set - TTL Representation

Active as of 2026-06-01

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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 "cdt-condition-vs"] ; #
      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 cdt-condition-vs</b></p><a name=\"cdt-condition-vs\"> </a><a name=\"hccdt-condition-vs\"> </a><a name=\"cdt-condition-vs-en\"> </a><ul><li>Include these codes as defined in <a href=\"http://www.snomed.org/\"><code>http://snomed.info/sct</code></a><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href=\"http://snomed.info/id/6002006\">6002006</a></td><td>10p partial monosomy syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/48760005\">48760005</a></td><td>10p partial trisomy syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/16129004\">16129004</a></td><td>10q partial monosomy</td></tr><tr><td><a href=\"http://snomed.info/id/73035005\">73035005</a></td><td>10q partial trisomy syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/770401007\">770401007</a></td><td>10q22.3q23.3 microdeletion syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/782669004\">782669004</a></td><td>10q22.3q23.3 microduplication syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/4135001\">4135001</a></td><td>11p partial monosomy syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/26480007\">26480007</a></td><td>11p partial trisomy syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/880078001\">880078001</a></td><td>11p15 deletion syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/880079009\">880079009</a></td><td>11p15 duplication syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/770794008\">770794008</a></td><td>11p15.4 microduplication syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/4325000\">4325000</a></td><td>11q partial monosomy syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/4874006\">4874006</a></td><td>11q partial trisomy syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/1229882003\">1229882003</a></td><td>11q22.2q22.3 microdeletion syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/14091009\">14091009</a></td><td>12p partial trisomy syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/778007004\">778007004</a></td><td>12p12.1 microdeletion syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/40389006\">40389006</a></td><td>12q partial trisomy syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/719046005\">719046005</a></td><td>12q14 microdeletion syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/880081006\">880081006</a></td><td>12q15 deletion syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/734030009\">734030009</a></td><td>12q15q21.1 microdeletion syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/880086001\">880086001</a></td><td>12q24.31-q24.32 deletion syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/548004\">548004</a></td><td>13p partial trisomy syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/29257000\">29257000</a></td><td>13q partial monosomy syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/10572007\">10572007</a></td><td>13q partial trisomy syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/773547003\">773547003</a></td><td>13q12.3 microdeletion syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/20348002\">20348002</a></td><td>14q partial distal trisomy syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/83585001\">83585001</a></td><td>14q partial proximal trisomy syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/7586009\">7586009</a></td><td>14q partial trisomy</td></tr><tr><td><a href=\"http://snomed.info/id/719047001\">719047001</a></td><td>14q11.2 microdeletion syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/771341006\">771341006</a></td><td>14q11.2 microduplication syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/719574007\">719574007</a></td><td>14q12 microdeletion syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/771439009\">771439009</a></td><td>14q22q23 microdeletion syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/773494008\">773494008</a></td><td>14q24.1q24.3 microdeletion syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/1234830005\">1234830005</a></td><td>14q32 duplication syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/771477003\">771477003</a></td><td>15q overgrowth syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/771340007\">771340007</a></td><td>15q11.2 microdeletion syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/719427001\">719427001</a></td><td>15q11q13 microduplication syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/699254009\">699254009</a></td><td>15q13.3 microdeletion</td></tr><tr><td><a href=\"http://snomed.info/id/768713003\">768713003</a></td><td>15q13.3 microduplication syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/719575008\">719575008</a></td><td>15q14 microdeletion syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/699308002\">699308002</a></td><td>15q24 microdeletion</td></tr><tr><td><a href=\"http://snomed.info/id/719576009\">719576009</a></td><td>16p11.2p12.2 microdeletion syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/733518000\">733518000</a></td><td>16p11.2p12.2 microduplication syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/1251450006\">1251450006</a></td><td>16p12.1p12.3 triplication syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/768471006\">768471006</a></td><td>16p12.2 microdeletion syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/719577000\">719577000</a></td><td>16p13.11 microdeletion syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/719578005\">719578005</a></td><td>16p13.11 microduplication syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/733473000\">733473000</a></td><td>16p13.3 microduplication syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/770760006\">770760006</a></td><td>16q24.1 microdeletion syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/719580004\">719580004</a></td><td>16q24.3 microdeletion syndrome</td></tr></table></li></ul></div>"^^rdf:XMLLiteral
      ] ; #
      fhir:url [ fhir:v "https://cdt-beta.coforix.ai/fhir/ValueSet/cdt-condition-vs"^^xsd:anyURI] ; #
      fhir:version [ fhir:v "0.1.0"] ; #
      fhir:name [ fhir:v "CDTConditionVS"] ; #
      fhir:title [ fhir:v "CDT Condition Value Set"] ; #
      fhir:status [ fhir:v "active"] ; #
      fhir:experimental [ fhir:v false] ; #
      fhir:date [ fhir:v "2026-06-01T11:08:43+00:00"^^xsd:dateTime] ; #
      fhir:publisher [ fhir:v "Coforix"] ; #
      fhir:contact ( [
    fhir:name [ fhir:v "Coforix" ] ;
        ( fhir:telecom [
    fhir:system [ fhir:v "url" ] ;
    fhir:value [ fhir:v "https://coforix.ai/" ]     ] [
    fhir:system [ fhir:v "email" ] ;
    fhir:value [ fhir:v "hello@coforix.ai" ]     ] )
      ] [
    fhir:name [ fhir:v "Coforix" ] ;
        ( fhir:telecom [
    fhir:system [ fhir:v "email" ] ;
    fhir:value [ fhir:v "hello@coforix.ai" ] ;
    fhir:use [ fhir:v "work" ]     ] )
      ] ) ; #
      fhir:description [ fhir:v "Value set containing condition codes from SNOMED CT for international use"] ; #
      fhir:jurisdiction ( [
        ( fhir:coding [
    fhir:system [ fhir:v "urn:iso:std:iso:3166"^^xsd:anyURI ] ;
    fhir:code [ fhir:v "NL" ] ;
    fhir:display [ fhir:v "Netherlands" ]     ] )
      ] ) ; #
      fhir:compose [
        ( fhir:include [
    fhir:system [ fhir:v "http://snomed.info/sct"^^xsd:anyURI ] ;
          ( fhir:concept [
    fhir:code [ fhir:v "6002006" ] ;
    fhir:display [ fhir:v "10p partial monosomy syndrome" ]       ] [
    fhir:code [ fhir:v "48760005" ] ;
    fhir:display [ fhir:v "10p partial trisomy syndrome" ]       ] [
    fhir:code [ fhir:v "16129004" ] ;
    fhir:display [ fhir:v "10q partial monosomy" ]       ] [
    fhir:code [ fhir:v "73035005" ] ;
    fhir:display [ fhir:v "10q partial trisomy syndrome" ]       ] [
    fhir:code [ fhir:v "770401007" ] ;
    fhir:display [ fhir:v "10q22.3q23.3 microdeletion syndrome" ]       ] [
    fhir:code [ fhir:v "782669004" ] ;
    fhir:display [ fhir:v "10q22.3q23.3 microduplication syndrome" ]       ] [
    fhir:code [ fhir:v "4135001" ] ;
    fhir:display [ fhir:v "11p partial monosomy syndrome" ]       ] [
    fhir:code [ fhir:v "26480007" ] ;
    fhir:display [ fhir:v "11p partial trisomy syndrome" ]       ] [
    fhir:code [ fhir:v "880078001" ] ;
    fhir:display [ fhir:v "11p15 deletion syndrome" ]       ] [
    fhir:code [ fhir:v "880079009" ] ;
    fhir:display [ fhir:v "11p15 duplication syndrome" ]       ] [
    fhir:code [ fhir:v "770794008" ] ;
    fhir:display [ fhir:v "11p15.4 microduplication syndrome" ]       ] [
    fhir:code [ fhir:v "4325000" ] ;
    fhir:display [ fhir:v "11q partial monosomy syndrome" ]       ] [
    fhir:code [ fhir:v "4874006" ] ;
    fhir:display [ fhir:v "11q partial trisomy syndrome" ]       ] [
    fhir:code [ fhir:v "1229882003" ] ;
    fhir:display [ fhir:v "11q22.2q22.3 microdeletion syndrome" ]       ] [
    fhir:code [ fhir:v "14091009" ] ;
    fhir:display [ fhir:v "12p partial trisomy syndrome" ]       ] [
    fhir:code [ fhir:v "778007004" ] ;
    fhir:display [ fhir:v "12p12.1 microdeletion syndrome" ]       ] [
    fhir:code [ fhir:v "40389006" ] ;
    fhir:display [ fhir:v "12q partial trisomy syndrome" ]       ] [
    fhir:code [ fhir:v "719046005" ] ;
    fhir:display [ fhir:v "12q14 microdeletion syndrome" ]       ] [
    fhir:code [ fhir:v "880081006" ] ;
    fhir:display [ fhir:v "12q15 deletion syndrome" ]       ] [
    fhir:code [ fhir:v "734030009" ] ;
    fhir:display [ fhir:v "12q15q21.1 microdeletion syndrome" ]       ] [
    fhir:code [ fhir:v "880086001" ] ;
    fhir:display [ fhir:v "12q24.31-q24.32 deletion syndrome" ]       ] [
    fhir:code [ fhir:v "548004" ] ;
    fhir:display [ fhir:v "13p partial trisomy syndrome" ]       ] [
    fhir:code [ fhir:v "29257000" ] ;
    fhir:display [ fhir:v "13q partial monosomy syndrome" ]       ] [
    fhir:code [ fhir:v "10572007" ] ;
    fhir:display [ fhir:v "13q partial trisomy syndrome" ]       ] [
    fhir:code [ fhir:v "773547003" ] ;
    fhir:display [ fhir:v "13q12.3 microdeletion syndrome" ]       ] [
    fhir:code [ fhir:v "20348002" ] ;
    fhir:display [ fhir:v "14q partial distal trisomy syndrome" ]       ] [
    fhir:code [ fhir:v "83585001" ] ;
    fhir:display [ fhir:v "14q partial proximal trisomy syndrome" ]       ] [
    fhir:code [ fhir:v "7586009" ] ;
    fhir:display [ fhir:v "14q partial trisomy" ]       ] [
    fhir:code [ fhir:v "719047001" ] ;
    fhir:display [ fhir:v "14q11.2 microdeletion syndrome" ]       ] [
    fhir:code [ fhir:v "771341006" ] ;
    fhir:display [ fhir:v "14q11.2 microduplication syndrome" ]       ] [
    fhir:code [ fhir:v "719574007" ] ;
    fhir:display [ fhir:v "14q12 microdeletion syndrome" ]       ] [
    fhir:code [ fhir:v "771439009" ] ;
    fhir:display [ fhir:v "14q22q23 microdeletion syndrome" ]       ] [
    fhir:code [ fhir:v "773494008" ] ;
    fhir:display [ fhir:v "14q24.1q24.3 microdeletion syndrome" ]       ] [
    fhir:code [ fhir:v "1234830005" ] ;
    fhir:display [ fhir:v "14q32 duplication syndrome" ]       ] [
    fhir:code [ fhir:v "771477003" ] ;
    fhir:display [ fhir:v "15q overgrowth syndrome" ]       ] [
    fhir:code [ fhir:v "771340007" ] ;
    fhir:display [ fhir:v "15q11.2 microdeletion syndrome" ]       ] [
    fhir:code [ fhir:v "719427001" ] ;
    fhir:display [ fhir:v "15q11q13 microduplication syndrome" ]       ] [
    fhir:code [ fhir:v "699254009" ] ;
    fhir:display [ fhir:v "15q13.3 microdeletion" ]       ] [
    fhir:code [ fhir:v "768713003" ] ;
    fhir:display [ fhir:v "15q13.3 microduplication syndrome" ]       ] [
    fhir:code [ fhir:v "719575008" ] ;
    fhir:display [ fhir:v "15q14 microdeletion syndrome" ]       ] [
    fhir:code [ fhir:v "699308002" ] ;
    fhir:display [ fhir:v "15q24 microdeletion" ]       ] [
    fhir:code [ fhir:v "719576009" ] ;
    fhir:display [ fhir:v "16p11.2p12.2 microdeletion syndrome" ]       ] [
    fhir:code [ fhir:v "733518000" ] ;
    fhir:display [ fhir:v "16p11.2p12.2 microduplication syndrome" ]       ] [
    fhir:code [ fhir:v "1251450006" ] ;
    fhir:display [ fhir:v "16p12.1p12.3 triplication syndrome" ]       ] [
    fhir:code [ fhir:v "768471006" ] ;
    fhir:display [ fhir:v "16p12.2 microdeletion syndrome" ]       ] [
    fhir:code [ fhir:v "719577000" ] ;
    fhir:display [ fhir:v "16p13.11 microdeletion syndrome" ]       ] [
    fhir:code [ fhir:v "719578005" ] ;
    fhir:display [ fhir:v "16p13.11 microduplication syndrome" ]       ] [
    fhir:code [ fhir:v "733473000" ] ;
    fhir:display [ fhir:v "16p13.3 microduplication syndrome" ]       ] [
    fhir:code [ fhir:v "770760006" ] ;
    fhir:display [ fhir:v "16q24.1 microdeletion syndrome" ]       ] [
    fhir:code [ fhir:v "719580004" ] ;
    fhir:display [ fhir:v "16q24.3 microdeletion syndrome" ]       ] )     ] )
      ] . #