Generated Narrative: ValueSet GMSWGSGuideTestCodesVS

  • Include these codes as defined in https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory version 📦2.2.0
    CodeDisplay
    R14.1Acutely unwell children with a likely monogenic disorder (WGS)
    R15.4Primary immunodeficiency or monogenic inflammatory bowel disease (WGS)
    R27.3Paediatric disorders (WGS)
    R31.3Bilateral congenital or childhood onset cataracts (WGS)
    R32.2Retinal disorders (WGS)
    R36.2Structural eye disease (WGS)
    R54.3Hereditary ataxia with onset in adulthood (WGS)
    R55.4Hereditary ataxia with onset in childhood (WGS)
    R56.3Adult onset dystonia, chorea or related movement disorder (WGS)
    R57.5Childhood onset dystonia, chorea or related movement disorder (WGS)
    R60.3Adult onset hereditary spastic paraplegia (WGS)
    R61.4Childhood onset hereditary spastic paraplegia (WGS)
    R62.2Adult onset leukodystrophy (WGS)
    R69.5Hypotonic infant (WGS)
    R78.4Hereditary neuropathy or pain disorder (WGS)
    R83.3Arthrogryposis (WGS)
    R84.4Cerebellar anomalies (WGS)
    R85.2Holoprosencephaly - NOT chromosomal (WGS)
    R86.3Hydrocephalus (WGS)
    R87.3Cerebral malformation (WGS)
    R88.3Severe microcephaly (WGS)
    R89.3Ultra-rare and atypical monogenic disorders (WGS)
    R98.2Likely inborn error of metabolism (WGS)
    R100.3Rare syndromic craniosynostosis or isolated multisuture synostosis (WGS)
    R104.3Skeletal dysplasia (WGS)
    R109.3Childhood onset leukodystrophy (WGS)
    R135.2Paediatric or syndromic cardiomyopathy (WGS)
    R143.4Neonatal diabetes (WGS)
    R193.4Cystic renal disease (WGS)
    R195.3Proteinuric renal disease (WGS)
    R257.2Unexplained young onset end-stage renal disease (WGS)
    R381.2Other rare neuromuscular disorders (WGS)
    R441.1Unexplained death in infancy and sudden unexplained death in childhood (WGS)
    R458.1Young onset or familial dementia (WGS)
    R459.1Young onset or complex Parkinson disease (WGS)
    R460.1Amyotrophic lateral sclerosis (WGS)
    R461.1Cerebral amyloid angiopathy (WGS)
 <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>