NHS North West Genomics - Local Development build (v0.0.7) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

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: NHS England Genomic Clinical Indication Code - XML Representation

Draft as of 2025-05-08

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<CodeSystem xmlns="http://hl7.org/fhir">
  <id value="GenomicClinicalIndication"/>
  <text>
    <status value="generated"/>
    <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">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></table></div>
  </text>
  <url
       value="https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication"/>
  <version value="0.0.7"/>
  <name value="GenomicClinicalIndication"/>
  <title value="NHS England Genomic Clinical Indication Code"/>
  <status value="draft"/>
  <experimental value="false"/>
  <date value="2025-05-08"/>
  <publisher value="NHS North West Genomics"/>
  <contact>
    <telecom>
      <system value="url"/>
      <value value="https://www.nwgenomics.nhs.uk/contact-us"/>
    </telecom>
  </contact>
  <description value="1st level Genomic Test Directory Codes"/>
  <jurisdiction>
    <coding>
      <system value="urn:iso:std:iso:3166"/>
      <code value="GB"/>
      <display value="United Kingdom of Great Britain and Northern Ireland"/>
    </coding>
  </jurisdiction>
  <caseSensitive value="true"/>
  <content value="fragment"/>
  <concept>
    <code value="R240"/>
    <display value="Diagnostic testing for known mutation(s)"/>
  </concept>
  <concept>
    <code value="R361"/>
    <display value="Childhood onset hereditary spastic paraplegia"/>
  </concept>
  <concept>
    <code value="R362"/>
    <display value="Not present in 8.0"/>
  </concept>
  <concept>
    <code value="R372"/>
    <display
             value="Newborn screening for sickle cell disease in a transfused baby"/>
  </concept>
  <concept>
    <code value="R93"/>
    <display value="Sickle cell, thalassaemia and other haemoglobinopathies"/>
  </concept>
  <concept>
    <code value="R94"/>
    <display value="Not present in 8.0"/>
  </concept>
  <concept>
    <code value="R413"/>
    <display value="Autoinflammatory Disorders"/>
  </concept>
  <concept>
    <code value="R67"/>
    <display value="Monogenic hearing loss"/>
  </concept>
  <concept>
    <code value="R141"/>
    <display value="Monogenic diabetes"/>
  </concept>
  <concept>
    <code value="R142"/>
    <display value="Glucokinase-related fasting hyperglycaemia"/>
  </concept>
  <concept>
    <code value="R201"/>
    <display value="Atypical haemolytic uraemic syndrome"/>
  </concept>
  <concept>
    <code value="M9"/>
    <display value="Thyroid Papillary Carcinoma - Adult"/>
  </concept>
  <concept>
    <code value="M215"/>
    <display value="Endometrial Cancer"/>
  </concept>
</CodeSystem>