FHIR IG analytics| Package | fhir.nwgenomics.nhs.uk |
| Resource Type | ValueSet |
| Id | ValueSet-RareAndInheritedDiseaseTestCodes.json |
| FHIR Version | R4 |
| Source | https://build.fhir.org/ig/nw-gmsa/nw-gmsa.github.com/ValueSet-RareAndInheritedDiseaseTestCodes.html |
| URL | https://fhir.nwgenomics.nhs.uk/ValueSet/RareAndInheritedDiseaseTestCodes |
| Version | 2.2.0 |
| Status | draft |
| Date | 2026-09-27T08:17:18+00:00 |
| Name | RareAndInheritedDiseaseTestCodes |
| Title | Genomic Rare and Inherited Disease Test Directory |
| Realm | us |
| Authority | hl7 |
| 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. |
No resources found
| CodeSystem | ||
| fhir.nwgenomics.nhs.uk#current | England-GenomicTestDirectory | NHS England Genomic Test Code |
Note: links and images are rebased to the (stated) source
Generated Narrative: ValueSet RareAndInheritedDiseaseTestCodes
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory version 📦2.2.0 where category = rare-and-inherited-disease{
"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"
}
]
}
]
}
}