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Source1

{
  "resourceType": "ValueSet",
  "id": "GMSWGSGuideTestCodesVS",
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "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": "2026-09-29T14:31:16+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)"
          }
        ]
      }
    ]
  }
}