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 - JSON Representation

Active as of 2026-06-01

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    {
      "resourceType" : "ValueSet",
      "id" : "cdt-condition-vs",
      "text" : {
        "status" : "generated",
        "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>"
      },
      "url" : "https://cdt-beta.coforix.ai/fhir/ValueSet/cdt-condition-vs",
      "version" : "0.1.0",
      "name" : "CDTConditionVS",
      "title" : "CDT Condition Value Set",
      "status" : "active",
      "experimental" : false,
      "date" : "2026-06-01T11:08:43+00:00",
      "publisher" : "Coforix",
      "contact" : [
        {
          "name" : "Coforix",
          "telecom" : [
            {
              "system" : "url",
              "value" : "https://coforix.ai/"
            },
            {
              "system" : "email",
              "value" : "hello@coforix.ai"
            }
          ]
        },
        {
          "name" : "Coforix",
          "telecom" : [
            {
              "system" : "email",
              "value" : "hello@coforix.ai",
              "use" : "work"
            }
          ]
        }
      ],
      "description" : "Value set containing condition codes from SNOMED CT for international use",
      "jurisdiction" : [
        {
          "coding" : [
            {
              "system" : "urn:iso:std:iso:3166",
              "code" : "NL",
              "display" : "Netherlands"
            }
          ]
        }
      ],
      "compose" : {
        "include" : [
          {
            "system" : "http://snomed.info/sct",
            "concept" : [
              {
                "code" : "6002006",
                "display" : "10p partial monosomy syndrome"
              },
              {
                "code" : "48760005",
                "display" : "10p partial trisomy syndrome"
              },
              {
                "code" : "16129004",
                "display" : "10q partial monosomy"
              },
              {
                "code" : "73035005",
                "display" : "10q partial trisomy syndrome"
              },
              {
                "code" : "770401007",
                "display" : "10q22.3q23.3 microdeletion syndrome"
              },
              {
                "code" : "782669004",
                "display" : "10q22.3q23.3 microduplication syndrome"
              },
              {
                "code" : "4135001",
                "display" : "11p partial monosomy syndrome"
              },
              {
                "code" : "26480007",
                "display" : "11p partial trisomy syndrome"
              },
              {
                "code" : "880078001",
                "display" : "11p15 deletion syndrome"
              },
              {
                "code" : "880079009",
                "display" : "11p15 duplication syndrome"
              },
              {
                "code" : "770794008",
                "display" : "11p15.4 microduplication syndrome"
              },
              {
                "code" : "4325000",
                "display" : "11q partial monosomy syndrome"
              },
              {
                "code" : "4874006",
                "display" : "11q partial trisomy syndrome"
              },
              {
                "code" : "1229882003",
                "display" : "11q22.2q22.3 microdeletion syndrome"
              },
              {
                "code" : "14091009",
                "display" : "12p partial trisomy syndrome"
              },
              {
                "code" : "778007004",
                "display" : "12p12.1 microdeletion syndrome"
              },
              {
                "code" : "40389006",
                "display" : "12q partial trisomy syndrome"
              },
              {
                "code" : "719046005",
                "display" : "12q14 microdeletion syndrome"
              },
              {
                "code" : "880081006",
                "display" : "12q15 deletion syndrome"
              },
              {
                "code" : "734030009",
                "display" : "12q15q21.1 microdeletion syndrome"
              },
              {
                "code" : "880086001",
                "display" : "12q24.31-q24.32 deletion syndrome"
              },
              {
                "code" : "548004",
                "display" : "13p partial trisomy syndrome"
              },
              {
                "code" : "29257000",
                "display" : "13q partial monosomy syndrome"
              },
              {
                "code" : "10572007",
                "display" : "13q partial trisomy syndrome"
              },
              {
                "code" : "773547003",
                "display" : "13q12.3 microdeletion syndrome"
              },
              {
                "code" : "20348002",
                "display" : "14q partial distal trisomy syndrome"
              },
              {
                "code" : "83585001",
                "display" : "14q partial proximal trisomy syndrome"
              },
              {
                "code" : "7586009",
                "display" : "14q partial trisomy"
              },
              {
                "code" : "719047001",
                "display" : "14q11.2 microdeletion syndrome"
              },
              {
                "code" : "771341006",
                "display" : "14q11.2 microduplication syndrome"
              },
              {
                "code" : "719574007",
                "display" : "14q12 microdeletion syndrome"
              },
              {
                "code" : "771439009",
                "display" : "14q22q23 microdeletion syndrome"
              },
              {
                "code" : "773494008",
                "display" : "14q24.1q24.3 microdeletion syndrome"
              },
              {
                "code" : "1234830005",
                "display" : "14q32 duplication syndrome"
              },
              {
                "code" : "771477003",
                "display" : "15q overgrowth syndrome"
              },
              {
                "code" : "771340007",
                "display" : "15q11.2 microdeletion syndrome"
              },
              {
                "code" : "719427001",
                "display" : "15q11q13 microduplication syndrome"
              },
              {
                "code" : "699254009",
                "display" : "15q13.3 microdeletion"
              },
              {
                "code" : "768713003",
                "display" : "15q13.3 microduplication syndrome"
              },
              {
                "code" : "719575008",
                "display" : "15q14 microdeletion syndrome"
              },
              {
                "code" : "699308002",
                "display" : "15q24 microdeletion"
              },
              {
                "code" : "719576009",
                "display" : "16p11.2p12.2 microdeletion syndrome"
              },
              {
                "code" : "733518000",
                "display" : "16p11.2p12.2 microduplication syndrome"
              },
              {
                "code" : "1251450006",
                "display" : "16p12.1p12.3 triplication syndrome"
              },
              {
                "code" : "768471006",
                "display" : "16p12.2 microdeletion syndrome"
              },
              {
                "code" : "719577000",
                "display" : "16p13.11 microdeletion syndrome"
              },
              {
                "code" : "719578005",
                "display" : "16p13.11 microduplication syndrome"
              },
              {
                "code" : "733473000",
                "display" : "16p13.3 microduplication syndrome"
              },
              {
                "code" : "770760006",
                "display" : "16q24.1 microdeletion syndrome"
              },
              {
                "code" : "719580004",
                "display" : "16q24.3 microdeletion syndrome"
              }
            ]
          }
        ]
      }
    }