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 |
{
"resourceType" : "ValueSet",
"id" : "GMSWGSGuideTestCodesVS",
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<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>"
},
"url" : "https://fhir.nwgenomics.nhs.uk/ValueSet/GMSWGSGuideTestCodesVS",
"version" : "2.2.0",
"name" : "GMSWGSGuideTestCodesVS",
"title" : "GMS WGS Rare Disease Form - Guide Test Codes",
"status" : "draft",
"experimental" : true,
"date" : "2026-09-20T05:53:36+00:00",
"publisher" : "NHS North West Genomics",
"contact" : [
{
"telecom" : [
{
"system" : "url",
"value" : "https://www.nwgenomics.nhs.uk/contact-us"
}
]
}
],
"description" : "The [Genomic Test Code](CodeSystem-GenomicTestCode.html) (`$GTD`,\n`England-GenomicTestDirectory`) `R*` codes whose display text names Whole Genome\nSequencing (WGS) specifically - 37 codes, all Rare & Inherited Disease. A candidate\nguide list for [GMS WGS Rare\nDisease](Questionnaire-GMSWGSRareDisease.html)'s Test Directory Clinical Indication\nitem, which is currently bound to the full [GenomicTestCodes](ValueSet-GenomicTestCodes.html)\nValueSet (every test family, not just WGS) - the same relationship [GMS WGS Guide HPO\nTerms](ValueSet-GMSWGSGuideHPOTermsVS.html) has to that Questionnaire's HPO Terms item: a\ncurated, form-specific subset of a much larger external code list, not a replacement for\nit.\n\nExcludes `R447.1` \"Validation of WGS Diagnostic discovery (Targeted variant testing)\" -\nits display text names WGS, but it's a targeted follow-up/confirmation test *of* a WGS\nfinding, not itself an order for WGS.",
"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 (WGS)"
},
{
"code" : "R15.4",
"display" : "Primary immunodeficiency or monogenic inflammatory bowel disease (WGS)"
},
{
"code" : "R27.3",
"display" : "Paediatric disorders (WGS)"
},
{
"code" : "R31.3",
"display" : "Bilateral congenital or childhood onset cataracts (WGS)"
},
{
"code" : "R32.2",
"display" : "Retinal disorders (WGS)"
},
{
"code" : "R36.2",
"display" : "Structural eye disease (WGS)"
},
{
"code" : "R54.3",
"display" : "Hereditary ataxia with onset in adulthood (WGS)"
},
{
"code" : "R55.4",
"display" : "Hereditary ataxia with onset in childhood (WGS)"
},
{
"code" : "R56.3",
"display" : "Adult onset dystonia, chorea or related movement disorder (WGS)"
},
{
"code" : "R57.5",
"display" : "Childhood onset dystonia, chorea or related movement disorder (WGS)"
},
{
"code" : "R60.3",
"display" : "Adult onset hereditary spastic paraplegia (WGS)"
},
{
"code" : "R61.4",
"display" : "Childhood onset hereditary spastic paraplegia (WGS)"
},
{
"code" : "R62.2",
"display" : "Adult onset leukodystrophy (WGS)"
},
{
"code" : "R69.5",
"display" : "Hypotonic infant (WGS)"
},
{
"code" : "R78.4",
"display" : "Hereditary neuropathy or pain disorder (WGS)"
},
{
"code" : "R83.3",
"display" : "Arthrogryposis (WGS)"
},
{
"code" : "R84.4",
"display" : "Cerebellar anomalies (WGS)"
},
{
"code" : "R85.2",
"display" : "Holoprosencephaly - NOT chromosomal (WGS)"
},
{
"code" : "R86.3",
"display" : "Hydrocephalus (WGS)"
},
{
"code" : "R87.3",
"display" : "Cerebral malformation (WGS)"
},
{
"code" : "R88.3",
"display" : "Severe microcephaly (WGS)"
},
{
"code" : "R89.3",
"display" : "Ultra-rare and atypical monogenic disorders (WGS)"
},
{
"code" : "R98.2",
"display" : "Likely inborn error of metabolism (WGS)"
},
{
"code" : "R100.3",
"display" : "Rare syndromic craniosynostosis or isolated multisuture synostosis (WGS)"
},
{
"code" : "R104.3",
"display" : "Skeletal dysplasia (WGS)"
},
{
"code" : "R109.3",
"display" : "Childhood onset leukodystrophy (WGS)"
},
{
"code" : "R135.2",
"display" : "Paediatric or syndromic cardiomyopathy (WGS)"
},
{
"code" : "R143.4",
"display" : "Neonatal diabetes (WGS)"
},
{
"code" : "R193.4",
"display" : "Cystic renal disease (WGS)"
},
{
"code" : "R195.3",
"display" : "Proteinuric renal disease (WGS)"
},
{
"code" : "R257.2",
"display" : "Unexplained young onset end-stage renal disease (WGS)"
},
{
"code" : "R381.2",
"display" : "Other rare neuromuscular disorders (WGS)"
},
{
"code" : "R441.1",
"display" : "Unexplained death in infancy and sudden unexplained death in childhood (WGS)"
},
{
"code" : "R458.1",
"display" : "Young onset or familial dementia (WGS)"
},
{
"code" : "R459.1",
"display" : "Young onset or complex Parkinson disease (WGS)"
},
{
"code" : "R460.1",
"display" : "Amyotrophic lateral sclerosis (WGS)"
},
{
"code" : "R461.1",
"display" : "Cerebral amyloid angiopathy (WGS)"
}
]
}
]
}
}