{
  "resourceType" : "CodeSystem",
  "id" : "GenomicClinicalIndication",
  "language" : "en",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem GenomicClinicalIndication</b></p><a name=\"GenomicClinicalIndication\"> </a><a name=\"hcGenomicClinicalIndication\"> </a><p>This case-sensitive code system <code>https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication</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\">R125<a name=\"GenomicClinicalIndication-R125\"> </a></td><td>Thoracic aortic aneurysm or dissection</td></tr><tr><td style=\"white-space:nowrap\">R240<a name=\"GenomicClinicalIndication-R240\"> </a></td><td>Diagnostic testing for known mutation(s)</td></tr><tr><td style=\"white-space:nowrap\">R361<a name=\"GenomicClinicalIndication-R361\"> </a></td><td>Childhood onset hereditary spastic paraplegia</td></tr><tr><td style=\"white-space:nowrap\">R362<a name=\"GenomicClinicalIndication-R362\"> </a></td><td>Not present in 8.0</td></tr><tr><td style=\"white-space:nowrap\">R372<a name=\"GenomicClinicalIndication-R372\"> </a></td><td>Newborn screening for sickle cell disease in a transfused baby</td></tr><tr><td style=\"white-space:nowrap\">R93<a name=\"GenomicClinicalIndication-R93\"> </a></td><td>Sickle cell, thalassaemia and other haemoglobinopathies</td></tr><tr><td style=\"white-space:nowrap\">R94<a name=\"GenomicClinicalIndication-R94\"> </a></td><td>Not present in 8.0</td></tr><tr><td style=\"white-space:nowrap\">R413<a name=\"GenomicClinicalIndication-R413\"> </a></td><td>Autoinflammatory Disorders</td></tr><tr><td style=\"white-space:nowrap\">R67<a name=\"GenomicClinicalIndication-R67\"> </a></td><td>Monogenic hearing loss</td></tr><tr><td style=\"white-space:nowrap\">R141<a name=\"GenomicClinicalIndication-R141\"> </a></td><td>Monogenic diabetes</td></tr><tr><td style=\"white-space:nowrap\">R142<a name=\"GenomicClinicalIndication-R142\"> </a></td><td>Glucokinase-related fasting hyperglycaemia</td></tr><tr><td style=\"white-space:nowrap\">R201<a name=\"GenomicClinicalIndication-R201\"> </a></td><td>Atypical haemolytic uraemic syndrome</td></tr><tr><td style=\"white-space:nowrap\">M9<a name=\"GenomicClinicalIndication-M9\"> </a></td><td>Thyroid Papillary Carcinoma - Adult</td></tr><tr><td style=\"white-space:nowrap\">M215<a name=\"GenomicClinicalIndication-M215\"> </a></td><td>Endometrial Cancer</td></tr><tr><td style=\"white-space:nowrap\">M4<a name=\"GenomicClinicalIndication-M4\"> </a></td><td/></tr><tr><td style=\"white-space:nowrap\">R210<a name=\"GenomicClinicalIndication-R210\"> </a></td><td>Inherited MMR deficiency (Lynch syndrome)</td></tr><tr><td style=\"white-space:nowrap\">R185<a name=\"GenomicClinicalIndication-R185\"> </a></td><td>Cystic fibrosis carrier</td></tr></table></div>"
  },
  "url" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication",
  "version" : "2.1.4",
  "name" : "GenomicClinicalIndication",
  "title" : "NHS England Genomic Clinical Indication Code",
  "status" : "draft",
  "experimental" : false,
  "date" : "2025-05-08",
  "publisher" : "NHS North West Genomics",
  "contact" : [{
    "telecom" : [{
      "system" : "url",
      "value" : "https://www.nwgenomics.nhs.uk/contact-us"
    }]
  }],
  "description" : "1st level Genomic Test Directory Codes",
  "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" : "R125",
    "display" : "Thoracic aortic aneurysm or dissection"
  },
  {
    "code" : "R240",
    "display" : "Diagnostic testing for known mutation(s)"
  },
  {
    "code" : "R361",
    "display" : "Childhood onset hereditary spastic paraplegia"
  },
  {
    "code" : "R362",
    "display" : "Not present in 8.0"
  },
  {
    "code" : "R372",
    "display" : "Newborn screening for sickle cell disease in a transfused baby"
  },
  {
    "code" : "R93",
    "display" : "Sickle cell, thalassaemia and other haemoglobinopathies"
  },
  {
    "code" : "R94",
    "display" : "Not present in 8.0"
  },
  {
    "code" : "R413",
    "display" : "Autoinflammatory Disorders"
  },
  {
    "code" : "R67",
    "display" : "Monogenic hearing loss"
  },
  {
    "code" : "R141",
    "display" : "Monogenic diabetes"
  },
  {
    "code" : "R142",
    "display" : "Glucokinase-related fasting hyperglycaemia"
  },
  {
    "code" : "R201",
    "display" : "Atypical haemolytic uraemic syndrome"
  },
  {
    "code" : "M9",
    "display" : "Thyroid Papillary Carcinoma - Adult"
  },
  {
    "code" : "M215",
    "display" : "Endometrial Cancer"
  },
  {
    "code" : "M4"
  },
  {
    "code" : "R210",
    "display" : "Inherited MMR deficiency (Lynch syndrome)"
  },
  {
    "code" : "R185",
    "display" : "Cystic fibrosis carrier"
  }]
}