Resource CodeSystem/FHIR Server from package north-west.england.nhs.uk#current (94 ms)

Resources that use this resource

ValueSet
https://hl7.mft.nhs.uk/ValueSet/genomic-test-directory	Genomic Test Directory
genomic-test-directory	Genomic Test Directory

Resources that this resource uses

No resources found

Narrative

Note: links and images are rebased to the (stated) source

Source

{
  "resourceType" : "CodeSystem",
  "id" : "nhsengland-genomic-test-directory",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem nhsengland-genomic-test-directory</b></p><a name=\"nhsengland-genomic-test-directory\"> </a><a name=\"hcnhsengland-genomic-test-directory\"> </a><a name=\"nhsengland-genomic-test-directory-en-GB\"> </a><p>This case-sensitive code system <code>https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory</code> provides <b>a fragment</b> that includes following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style=\"white-space:nowrap\">R14.1<a name=\"nhsengland-genomic-test-directory-R14.461\"> </a></td><td>Acutely unwell children with a likely monogenic disorder</td></tr><tr><td style=\"white-space:nowrap\">R133.1<a name=\"nhsengland-genomic-test-directory-R133.461\"> </a></td><td>Arrhythmogenic right ventricular cardiomyopathy</td></tr><tr><td style=\"white-space:nowrap\">R391.1<a name=\"nhsengland-genomic-test-directory-R391.461\"> </a></td><td>Barth syndrome</td></tr><tr><td style=\"white-space:nowrap\">R128.1<a name=\"nhsengland-genomic-test-directory-R128.461\"> </a></td><td>Brugada syndrome and cardiac sodium channel disease</td></tr><tr><td style=\"white-space:nowrap\">R129.1<a name=\"nhsengland-genomic-test-directory-R129.461\"> </a></td><td>Catecholaminergic polymorphic VT</td></tr><tr><td style=\"white-space:nowrap\">R132.1<a name=\"nhsengland-genomic-test-directory-R132.461\"> </a></td><td>Dilated and Arrhythmogenic cardiomyopathy</td></tr><tr><td style=\"white-space:nowrap\">R140.1<a name=\"nhsengland-genomic-test-directory-R140.461\"> </a></td><td>Elastin-related phenotypes</td></tr><tr><td style=\"white-space:nowrap\">R384.1<a name=\"nhsengland-genomic-test-directory-R384.461\"> </a></td><td>Generalised arterial calcification in infancy</td></tr><tr><td style=\"white-space:nowrap\">R131.1<a name=\"nhsengland-genomic-test-directory-R131.461\"> </a></td><td>Hypertrophic cardiomyopathy</td></tr><tr><td style=\"white-space:nowrap\">R127.1<a name=\"nhsengland-genomic-test-directory-R127.461\"> </a></td><td>Long QT syndrome</td></tr><tr><td style=\"white-space:nowrap\">R135.2<a name=\"nhsengland-genomic-test-directory-R135.462\"> </a></td><td>Paediatric or syndromic cardiomyopathy</td></tr><tr><td style=\"white-space:nowrap\">R135.3<a name=\"nhsengland-genomic-test-directory-R135.463\"> </a></td><td>Paediatric or syndromic cardiomyopathy</td></tr><tr><td style=\"white-space:nowrap\">R136.1<a name=\"nhsengland-genomic-test-directory-R136.461\"> </a></td><td>Primary lymphoedema</td></tr><tr><td style=\"white-space:nowrap\">R328.1<a name=\"nhsengland-genomic-test-directory-R328.461\"> </a></td><td>Progressive cardiac conduction disease</td></tr><tr><td style=\"white-space:nowrap\">R130.1<a name=\"nhsengland-genomic-test-directory-R130.461\"> </a></td><td>Short QT syndrome</td></tr><tr><td style=\"white-space:nowrap\">R138.1<a name=\"nhsengland-genomic-test-directory-R138.461\"> </a></td><td>Sudden unexplained death or survivors of a cardiac event</td></tr><tr><td style=\"white-space:nowrap\">R240.1<a name=\"nhsengland-genomic-test-directory-R240.461\"> </a></td><td>Diagnostic testing for known variant(s)</td></tr><tr><td style=\"white-space:nowrap\">R242.1<a name=\"nhsengland-genomic-test-directory-R242.461\"> </a></td><td>Predictive testing for known familial variant(s)</td></tr></table></div>"
  },
  "url" : "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
  "version" : "0.0.1",
  "name" : "NHSEnglandGenomicTestDirectory",
  "title" : "Genomic Test Directory",
  "status" : "draft",
  "experimental" : false,
  "date" : "2025-02-11",
  "publisher" : "Manchester University NHS Foundation Trust",
  "contact" : [
    {
      "telecom" : [
        {
          "system" : "url",
          "value" : "https://mft.nhs.uk/"
        }
      ]
    },
    {
      "telecom" : [
        {
          "system" : "email",
          "value" : "pressoffice@mft.nhs.uk"
        }
      ]
    },
    {
      "name" : "Press Office",
      "telecom" : [
        {
          "system" : "email",
          "value" : "pressoffice@mft.nhs.uk"
        }
      ]
    }
  ],
  "description" : "- [Genomic Test Directory](https://www.england.nhs.uk/publication/national-genomic-test-directories)",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "urn:iso:std:iso:3166",
          "code" : "GB",
          "display" : "United Kingdom of Great Britain and Northern Ireland"
        }
      ]
    }
  ],
  "caseSensitive" : true,
  "content" : "fragment",
  "concept" : [
    {
      "code" : "R14.1",
      "display" : "Acutely unwell children with a likely monogenic disorder"
    },
    {
      "code" : "R133.1",
      "display" : "Arrhythmogenic right ventricular cardiomyopathy"
    },
    {
      "code" : "R391.1",
      "display" : "Barth syndrome"
    },
    {
      "code" : "R128.1",
      "display" : "Brugada syndrome and cardiac sodium channel disease"
    },
    {
      "code" : "R129.1",
      "display" : "Catecholaminergic polymorphic VT"
    },
    {
      "code" : "R132.1",
      "display" : "Dilated and Arrhythmogenic cardiomyopathy"
    },
    {
      "code" : "R140.1",
      "display" : "Elastin-related phenotypes"
    },
    {
      "code" : "R384.1",
      "display" : "Generalised arterial calcification in infancy"
    },
    {
      "code" : "R131.1",
      "display" : "Hypertrophic cardiomyopathy"
    },
    {
      "code" : "R127.1",
      "display" : "Long QT syndrome"
    },
    {
      "code" : "R135.2",
      "display" : "Paediatric or syndromic cardiomyopathy"
    },
    {
      "code" : "R135.3",
      "display" : "Paediatric or syndromic cardiomyopathy"
    },
    {
      "code" : "R136.1",
      "display" : "Primary lymphoedema"
    },
    {
      "code" : "R328.1",
      "display" : "Progressive cardiac conduction disease"
    },
    {
      "code" : "R130.1",
      "display" : "Short QT syndrome"
    },
    {
      "code" : "R138.1",
      "display" : "Sudden unexplained death or survivors of a cardiac event"
    },
    {
      "code" : "R240.1",
      "display" : "Diagnostic testing for known variant(s)"
    },
    {
      "code" : "R242.1",
      "display" : "Predictive testing for known familial variant(s)"
    }
  ]
}

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