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
| Official URL: https://fhir.nwgenomics.nhs.uk/ValueSet/GMSWGSGuideTestCodesVS | Version: 2.2.0 | ||||
| Draft as of 2026-09-20 | Computable Name: GMSWGSGuideTestCodesVS | ||||
The Genomic Test Code ($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's Test Directory Clinical Indication
item, which is currently bound to the full GenomicTestCodes
ValueSet (every test family, not just WGS) - the same relationship GMS WGS Guide HPO
Terms 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.
References
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory version 📦2.2.0| Code | Display |
| R14.1 | Acutely unwell children with a likely monogenic disorder (WGS) |
| R15.4 | Primary immunodeficiency or monogenic inflammatory bowel disease (WGS) |
| R27.3 | Paediatric disorders (WGS) |
| R31.3 | Bilateral congenital or childhood onset cataracts (WGS) |
| R32.2 | Retinal disorders (WGS) |
| R36.2 | Structural eye disease (WGS) |
| R54.3 | Hereditary ataxia with onset in adulthood (WGS) |
| R55.4 | Hereditary ataxia with onset in childhood (WGS) |
| R56.3 | Adult onset dystonia, chorea or related movement disorder (WGS) |
| R57.5 | Childhood onset dystonia, chorea or related movement disorder (WGS) |
| R60.3 | Adult onset hereditary spastic paraplegia (WGS) |
| R61.4 | Childhood onset hereditary spastic paraplegia (WGS) |
| R62.2 | Adult onset leukodystrophy (WGS) |
| R69.5 | Hypotonic infant (WGS) |
| R78.4 | Hereditary neuropathy or pain disorder (WGS) |
| R83.3 | Arthrogryposis (WGS) |
| R84.4 | Cerebellar anomalies (WGS) |
| R85.2 | Holoprosencephaly - NOT chromosomal (WGS) |
| R86.3 | Hydrocephalus (WGS) |
| R87.3 | Cerebral malformation (WGS) |
| R88.3 | Severe microcephaly (WGS) |
| R89.3 | Ultra-rare and atypical monogenic disorders (WGS) |
| R98.2 | Likely inborn error of metabolism (WGS) |
| R100.3 | Rare syndromic craniosynostosis or isolated multisuture synostosis (WGS) |
| R104.3 | Skeletal dysplasia (WGS) |
| R109.3 | Childhood onset leukodystrophy (WGS) |
| R135.2 | Paediatric or syndromic cardiomyopathy (WGS) |
| R143.4 | Neonatal diabetes (WGS) |
| R193.4 | Cystic renal disease (WGS) |
| R195.3 | Proteinuric renal disease (WGS) |
| R257.2 | Unexplained young onset end-stage renal disease (WGS) |
| R381.2 | Other rare neuromuscular disorders (WGS) |
| R441.1 | Unexplained death in infancy and sudden unexplained death in childhood (WGS) |
| R458.1 | Young onset or familial dementia (WGS) |
| R459.1 | Young onset or complex Parkinson disease (WGS) |
| R460.1 | Amyotrophic lateral sclerosis (WGS) |
| R461.1 | Cerebral amyloid angiopathy (WGS) |
Expansion performed internally based on codesystem NHS England Genomic Test Code v2.2.0 (CodeSystem)
This value set contains 37 concepts
| System | Code | Display (en) | JSON | XML |
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R14.1 | Acutely unwell children with a likely monogenic disorder (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R15.4 | Primary immunodeficiency or monogenic inflammatory bowel disease (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R27.3 | Paediatric disorders (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R31.3 | Bilateral congenital or childhood onset cataracts (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R32.2 | Retinal disorders (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R36.2 | Structural eye disease (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R54.3 | Hereditary ataxia with onset in adulthood (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R55.4 | Hereditary ataxia with onset in childhood (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R56.3 | Adult onset dystonia, chorea or related movement disorder (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R57.5 | Childhood onset dystonia, chorea or related movement disorder (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R60.3 | Adult onset hereditary spastic paraplegia (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R61.4 | Childhood onset hereditary spastic paraplegia (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R62.2 | Adult onset leukodystrophy (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R69.5 | Hypotonic infant (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R78.4 | Hereditary neuropathy or pain disorder (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R83.3 | Arthrogryposis (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R84.4 | Cerebellar anomalies (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R85.2 | Holoprosencephaly - NOT chromosomal (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R86.3 | Hydrocephalus (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R87.3 | Cerebral malformation (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R88.3 | Severe microcephaly (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R89.3 | Ultra-rare and atypical monogenic disorders (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R98.2 | Likely inborn error of metabolism (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R100.3 | Rare syndromic craniosynostosis or isolated multisuture synostosis (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R104.3 | Skeletal dysplasia (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R109.3 | Childhood onset leukodystrophy (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R135.2 | Paediatric or syndromic cardiomyopathy (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R143.4 | Neonatal diabetes (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R193.4 | Cystic renal disease (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R195.3 | Proteinuric renal disease (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R257.2 | Unexplained young onset end-stage renal disease (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R381.2 | Other rare neuromuscular disorders (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R441.1 | Unexplained death in infancy and sudden unexplained death in childhood (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R458.1 | Young onset or familial dementia (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R459.1 | Young onset or complex Parkinson disease (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R460.1 | Amyotrophic lateral sclerosis (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R461.1 | Cerebral amyloid angiopathy (WGS) |