NHS North West Genomics
2.2.0 - ci-build
NHS North West Genomics
2.2.0 - ci-build
NHS North West Genomics - Local Development build (v2.2.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
| Draft as of 2026-09-20 |
<ValueSet xmlns="http://hl7.org/fhir">
<id value="GMSWGSGuideTestCodesVS"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: ValueSet GMSWGSGuideTestCodesVS</b></p><a name="GMSWGSGuideTestCodesVS"> </a><a name="hcGMSWGSGuideTestCodesVS"> </a><ul><li>Include these codes as defined in <a href="CodeSystem-GenomicTestCode.html"><code>https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory</code></a><span title="Version is not explicitly stated, which means it is fixed to the version provided in this specification"> version 📦2.2.0</span><table class="none"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R14.461">R14.1</a></td><td>Acutely unwell children with a likely monogenic disorder (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R15.464">R15.4</a></td><td>Primary immunodeficiency or monogenic inflammatory bowel disease (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R27.463">R27.3</a></td><td>Paediatric disorders (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R31.463">R31.3</a></td><td>Bilateral congenital or childhood onset cataracts (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R32.462">R32.2</a></td><td>Retinal disorders (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R36.462">R36.2</a></td><td>Structural eye disease (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R54.463">R54.3</a></td><td>Hereditary ataxia with onset in adulthood (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R55.464">R55.4</a></td><td>Hereditary ataxia with onset in childhood (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R56.463">R56.3</a></td><td>Adult onset dystonia, chorea or related movement disorder (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R57.465">R57.5</a></td><td>Childhood onset dystonia, chorea or related movement disorder (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R60.463">R60.3</a></td><td>Adult onset hereditary spastic paraplegia (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R61.464">R61.4</a></td><td>Childhood onset hereditary spastic paraplegia (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R62.462">R62.2</a></td><td>Adult onset leukodystrophy (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R69.465">R69.5</a></td><td>Hypotonic infant (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R78.464">R78.4</a></td><td>Hereditary neuropathy or pain disorder (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R83.463">R83.3</a></td><td>Arthrogryposis (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R84.464">R84.4</a></td><td>Cerebellar anomalies (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R85.462">R85.2</a></td><td>Holoprosencephaly - NOT chromosomal (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R86.463">R86.3</a></td><td>Hydrocephalus (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R87.463">R87.3</a></td><td>Cerebral malformation (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R88.463">R88.3</a></td><td>Severe microcephaly (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R89.463">R89.3</a></td><td>Ultra-rare and atypical monogenic disorders (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R98.462">R98.2</a></td><td>Likely inborn error of metabolism (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R100.463">R100.3</a></td><td>Rare syndromic craniosynostosis or isolated multisuture synostosis (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R104.463">R104.3</a></td><td>Skeletal dysplasia (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R109.463">R109.3</a></td><td>Childhood onset leukodystrophy (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R135.462">R135.2</a></td><td>Paediatric or syndromic cardiomyopathy (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R143.464">R143.4</a></td><td>Neonatal diabetes (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R193.464">R193.4</a></td><td>Cystic renal disease (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R195.463">R195.3</a></td><td>Proteinuric renal disease (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R257.462">R257.2</a></td><td>Unexplained young onset end-stage renal disease (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R381.462">R381.2</a></td><td>Other rare neuromuscular disorders (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R441.461">R441.1</a></td><td>Unexplained death in infancy and sudden unexplained death in childhood (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R458.461">R458.1</a></td><td>Young onset or familial dementia (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R459.461">R459.1</a></td><td>Young onset or complex Parkinson disease (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R460.461">R460.1</a></td><td>Amyotrophic lateral sclerosis (WGS)</td></tr><tr><td><a href="CodeSystem-GenomicTestCode.html#GenomicTestCode-R461.461">R461.1</a></td><td>Cerebral amyloid angiopathy (WGS)</td></tr></table></li></ul></div>
</text>
<url
value="https://fhir.nwgenomics.nhs.uk/ValueSet/GMSWGSGuideTestCodesVS"/>
<version value="2.2.0"/>
<name value="GMSWGSGuideTestCodesVS"/>
<title value="GMS WGS Rare Disease Form - Guide Test Codes"/>
<status value="draft"/>
<experimental value="true"/>
<date value="2026-09-20T05:53:36+00:00"/>
<publisher value="NHS North West Genomics"/>
<contact>
<telecom>
<system value="url"/>
<value value="https://www.nwgenomics.nhs.uk/contact-us"/>
</telecom>
</contact>
<description
value="The [Genomic Test Code](CodeSystem-GenomicTestCode.html) (`$GTD`,
`England-GenomicTestDirectory`) `R*` codes whose display text names Whole Genome
Sequencing (WGS) specifically - 37 codes, all Rare & Inherited Disease. A candidate
guide list for [GMS WGS Rare
Disease](Questionnaire-GMSWGSRareDisease.html)'s Test Directory Clinical Indication
item, which is currently bound to the full [GenomicTestCodes](ValueSet-GenomicTestCodes.html)
ValueSet (every test family, not just WGS) - the same relationship [GMS WGS Guide HPO
Terms](ValueSet-GMSWGSGuideHPOTermsVS.html) has to that Questionnaire's HPO Terms item: a
curated, form-specific subset of a much larger external code list, not a replacement for
it.
Excludes `R447.1` "Validation of WGS Diagnostic discovery (Targeted variant testing)" -
its display text names WGS, but it's a targeted follow-up/confirmation test *of* a WGS
finding, not itself an order for WGS."/>
<jurisdiction>
<coding>
<system value="urn:iso:std:iso:3166"/>
<code value="GB"/>
<display value="United Kingdom of Great Britain and Northern Ireland"/>
</coding>
</jurisdiction>
<compose>
<include>
<system
value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory"/>
<concept>
<code value="R14.1"/>
<display
value="Acutely unwell children with a likely monogenic disorder (WGS)"/>
</concept>
<concept>
<code value="R15.4"/>
<display
value="Primary immunodeficiency or monogenic inflammatory bowel disease (WGS)"/>
</concept>
<concept>
<code value="R27.3"/>
<display value="Paediatric disorders (WGS)"/>
</concept>
<concept>
<code value="R31.3"/>
<display
value="Bilateral congenital or childhood onset cataracts (WGS)"/>
</concept>
<concept>
<code value="R32.2"/>
<display value="Retinal disorders (WGS)"/>
</concept>
<concept>
<code value="R36.2"/>
<display value="Structural eye disease (WGS)"/>
</concept>
<concept>
<code value="R54.3"/>
<display value="Hereditary ataxia with onset in adulthood (WGS)"/>
</concept>
<concept>
<code value="R55.4"/>
<display value="Hereditary ataxia with onset in childhood (WGS)"/>
</concept>
<concept>
<code value="R56.3"/>
<display
value="Adult onset dystonia, chorea or related movement disorder (WGS)"/>
</concept>
<concept>
<code value="R57.5"/>
<display
value="Childhood onset dystonia, chorea or related movement disorder (WGS)"/>
</concept>
<concept>
<code value="R60.3"/>
<display value="Adult onset hereditary spastic paraplegia (WGS)"/>
</concept>
<concept>
<code value="R61.4"/>
<display value="Childhood onset hereditary spastic paraplegia (WGS)"/>
</concept>
<concept>
<code value="R62.2"/>
<display value="Adult onset leukodystrophy (WGS)"/>
</concept>
<concept>
<code value="R69.5"/>
<display value="Hypotonic infant (WGS)"/>
</concept>
<concept>
<code value="R78.4"/>
<display value="Hereditary neuropathy or pain disorder (WGS)"/>
</concept>
<concept>
<code value="R83.3"/>
<display value="Arthrogryposis (WGS)"/>
</concept>
<concept>
<code value="R84.4"/>
<display value="Cerebellar anomalies (WGS)"/>
</concept>
<concept>
<code value="R85.2"/>
<display value="Holoprosencephaly - NOT chromosomal (WGS)"/>
</concept>
<concept>
<code value="R86.3"/>
<display value="Hydrocephalus (WGS)"/>
</concept>
<concept>
<code value="R87.3"/>
<display value="Cerebral malformation (WGS)"/>
</concept>
<concept>
<code value="R88.3"/>
<display value="Severe microcephaly (WGS)"/>
</concept>
<concept>
<code value="R89.3"/>
<display value="Ultra-rare and atypical monogenic disorders (WGS)"/>
</concept>
<concept>
<code value="R98.2"/>
<display value="Likely inborn error of metabolism (WGS)"/>
</concept>
<concept>
<code value="R100.3"/>
<display
value="Rare syndromic craniosynostosis or isolated multisuture synostosis (WGS)"/>
</concept>
<concept>
<code value="R104.3"/>
<display value="Skeletal dysplasia (WGS)"/>
</concept>
<concept>
<code value="R109.3"/>
<display value="Childhood onset leukodystrophy (WGS)"/>
</concept>
<concept>
<code value="R135.2"/>
<display value="Paediatric or syndromic cardiomyopathy (WGS)"/>
</concept>
<concept>
<code value="R143.4"/>
<display value="Neonatal diabetes (WGS)"/>
</concept>
<concept>
<code value="R193.4"/>
<display value="Cystic renal disease (WGS)"/>
</concept>
<concept>
<code value="R195.3"/>
<display value="Proteinuric renal disease (WGS)"/>
</concept>
<concept>
<code value="R257.2"/>
<display
value="Unexplained young onset end-stage renal disease (WGS)"/>
</concept>
<concept>
<code value="R381.2"/>
<display value="Other rare neuromuscular disorders (WGS)"/>
</concept>
<concept>
<code value="R441.1"/>
<display
value="Unexplained death in infancy and sudden unexplained death in childhood (WGS)"/>
</concept>
<concept>
<code value="R458.1"/>
<display value="Young onset or familial dementia (WGS)"/>
</concept>
<concept>
<code value="R459.1"/>
<display value="Young onset or complex Parkinson disease (WGS)"/>
</concept>
<concept>
<code value="R460.1"/>
<display value="Amyotrophic lateral sclerosis (WGS)"/>
</concept>
<concept>
<code value="R461.1"/>
<display value="Cerebral amyloid angiopathy (WGS)"/>
</concept>
</include>
</compose>
</ValueSet>