North West Genomic Medicine Service Alliance
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DRAFT Implementation Guide

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: Genomic Rare and Inherited Disease Test Directory - JSON Representation

Draft as of 2025-06-19

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{
  "resourceType" : "ValueSet",
  "id" : "GenomicRareAndInheritedDisease",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet GenomicRareAndInheritedDisease</b></p><a name=\"GenomicRareAndInheritedDisease\"> </a><a name=\"hcGenomicRareAndInheritedDisease\"> </a><ul><li>Include these codes as defined in <a href=\"CodeSystem-nhsengland-genomic-test-directory.html\"><code>https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory</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=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R14.461\">R14.1</a></td><td>Acutely unwell children with a likely monogenic disorder</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R133.461\">R133.1</a></td><td>Arrhythmogenic right ventricular cardiomyopathy</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R391.461\">R391.1</a></td><td>Barth syndrome</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R128.461\">R128.1</a></td><td>Brugada syndrome and cardiac sodium channel disease</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R129.461\">R129.1</a></td><td>Catecholaminergic polymorphic VT</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R132.461\">R132.1</a></td><td>Dilated and Arrhythmogenic cardiomyopathy</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R140.461\">R140.1</a></td><td>Elastin-related phenotypes</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R384.461\">R384.1</a></td><td>Generalised arterial calcification in infancy</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R131.461\">R131.1</a></td><td>Hypertrophic cardiomyopathy</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R127.461\">R127.1</a></td><td>Long QT syndrome</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R135.462\">R135.2</a></td><td>Paediatric or syndromic cardiomyopathy</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R135.463\">R135.3</a></td><td>Paediatric or syndromic cardiomyopathy</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R136.461\">R136.1</a></td><td>Primary lymphoedema</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R328.461\">R328.1</a></td><td>Progressive cardiac conduction disease</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R130.461\">R130.1</a></td><td>Short QT syndrome</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R138.461\">R138.1</a></td><td>Sudden unexplained death or survivors of a cardiac event</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R240.461\">R240.1</a></td><td>Diagnostic testing for known variant(s)</td></tr><tr><td><a href=\"CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R242.461\">R242.1</a></td><td>Predictive testing for known familial variant(s)</td></tr></table></li></ul></div>"
  },
  "url" : "https://nw-gmsa.github.io/ValueSet/GenomicRareAndInheritedDisease",
  "version" : "0.0.1",
  "name" : "GenomicRareAndInheritedDisease",
  "title" : "Genomic Rare and Inherited Disease Test Directory",
  "status" : "draft",
  "experimental" : false,
  "date" : "2025-06-19T14:44:16+00:00",
  "publisher" : "NHS North West GMSA",
  "contact" : [
    {
      "telecom" : [
        {
          "system" : "url",
          "value" : "https://www.nw-gmsa.nhs.uk/contact-us"
        }
      ]
    }
  ],
  "description" : "- See **National genomic test directory for rare and inherited disease** on [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"
        }
      ]
    }
  ],
  "compose" : {
    "include" : [
      {
        "system" : "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
        "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)"
          }
        ]
      }
    ]
  }
}