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Packagefhir.nwgenomics.nhs.uk
Resource TypeValueSet
IdValueSet-RareAndInheritedDiseaseTestCodes.json
FHIR VersionR4
Sourcehttps://build.fhir.org/ig/nw-gmsa/nw-gmsa.github.com/ValueSet-RareAndInheritedDiseaseTestCodes.html
URLhttps://fhir.nwgenomics.nhs.uk/ValueSet/RareAndInheritedDiseaseTestCodes
Version2.2.0
Statusdraft
Date2026-09-27T08:17:18+00:00
NameRareAndInheritedDiseaseTestCodes
TitleGenomic Rare and Inherited Disease Test Directory
Realmus
Authorityhl7
Description- See **National genomic test directory for rare and inherited disease** (v9) on [Genomic Test Directory](https://www.england.nhs.uk/publication/national-genomic-test-directories) - All `category = rare-and-inherited-disease` codes from `EnglandTestCode` (`CodeSystem-GenomicTestCode`), checked/refreshed 2026-09-05.

Resources that use this resource

No resources found


Resources that this resource uses

CodeSystem
fhir.nwgenomics.nhs.uk#currentEngland-GenomicTestDirectoryNHS England Genomic Test Code

Narrative

Note: links and images are rebased to the (stated) source

Generated Narrative: ValueSet RareAndInheritedDiseaseTestCodes


Source1

{
  "resourceType": "ValueSet",
  "id": "RareAndInheritedDiseaseTestCodes",
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "url": "https://fhir.nwgenomics.nhs.uk/ValueSet/RareAndInheritedDiseaseTestCodes",
  "version": "2.2.0",
  "name": "RareAndInheritedDiseaseTestCodes",
  "title": "Genomic Rare and Inherited Disease Test Directory",
  "status": "draft",
  "experimental": false,
  "date": "2026-09-27T08:17:18+00:00",
  "publisher": "NHS North West Genomics",
  "contact": [
    {
      "telecom": [
        {
          "system": "url",
          "value": "https://www.nwgenomics.nhs.uk/contact-us"
        }
      ]
    }
  ],
  "description": "- See **National genomic test directory for rare and inherited disease** (v9) on [Genomic Test Directory](https://www.england.nhs.uk/publication/national-genomic-test-directories)\n- All `category = rare-and-inherited-disease` codes from `EnglandTestCode` (`CodeSystem-GenomicTestCode`), checked/refreshed 2026-09-05.",
  "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",
        "filter": [
          {
            "property": "category",
            "op": "=",
            "value": "rare-and-inherited-disease"
          }
        ]
      }
    ]
  }
}