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

Source1

{
  "resourceType": "ValueSet",
  "id": "GMSWGSGuideHPOTermsVS",
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "url": "https://fhir.nwgenomics.nhs.uk/ValueSet/GMSWGSGuideHPOTermsVS",
  "version": "2.2.0",
  "name": "GMSWGSGuideHPOTermsVS",
  "title": "GMS WGS Rare Disease Form - Guide HPO Terms",
  "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 38 example HPO (Human Phenotype Ontology) terms shown as a guide\n(rendered as an image, not selectable text, so no codes were available\ndirectly from the form itself) on page 2 of the [GMS WGS Test Request Form\n- Rare\nDisease](https://mft.nhs.uk/app/uploads/2026/05/GMS-WGS-Test-Order-Form-Rare-Disease.pdf).\n\nUnlike the CodeSystem this ValueSet previously drew from, these **are**\nreal HPO codes (`http://purl.obolibrary.org/obo/hp.owl`, release\n`20191108`) - confirmed against the Genomics England terminology server\n(`https://ontoserver.aws.gel.ac/fhir`) via `CodeSystem/$lookup`, not\nguessed. See [GMSWGSGuideHPOTermsToSCT\nConceptMap](ConceptMap-GMSWGSGuideHPOTermsToSCT.html) for the SNOMED CT\nmapping built from the same verification pass (27 of these 38 resolved;\nthe rest have no entry in that server's own `sct-to-hpo` map).\n\nBound as `#open-choice` on\n[Questionnaire-GMSWGSRareDisease](Questionnaire-GMSWGSRareDisease.html)'s\n`NOS/HPOTerm` item, so these 38 terms are offered as quick picks without\npreventing free-text/other-code entry of any other HPO term, consistent\nwith the source form's own \"guide ... not an exhaustive list\" wording.",
  "jurisdiction": [
    {
      "coding": [
        {
          "system": "urn:iso:std:iso:3166",
          "code": "GB",
          "display": "United Kingdom of Great Britain and Northern Ireland"
        }
      ]
    }
  ],
  "compose": {
    "include": [
      {
        "system": "http://purl.obolibrary.org/obo/hp.owl",
        "concept": [
          {
            "code": "HP:0001639",
            "display": "Hypertrophic cardiomyopathy"
          },
          {
            "code": "HP:0001644",
            "display": "Dilated cardiomyopathy"
          },
          {
            "code": "HP:0001638",
            "display": "Cardiomyopathy"
          },
          {
            "code": "HP:0002721",
            "display": "Immunodeficiency"
          },
          {
            "code": "HP:0040088",
            "display": "Abnormal lymphocyte count"
          },
          {
            "code": "HP:0005368",
            "display": "Abnormality of humoral immunity"
          },
          {
            "code": "HP:0012647",
            "display": "Abnormal inflammatory response"
          },
          {
            "code": "HP:0000518",
            "display": "Cataract"
          },
          {
            "code": "HP:0000556",
            "display": "Retinal dystrophy"
          },
          {
            "code": "HP:0007754",
            "display": "Macular dystrophy"
          },
          {
            "code": "HP:0005562",
            "display": "Multiple renal cysts"
          },
          {
            "code": "HP:0001407",
            "display": "Hepatic cysts"
          },
          {
            "code": "HP:0002342",
            "display": "Intellectual disability, moderate"
          },
          {
            "code": "HP:0002187",
            "display": "Intellectual disability, profound"
          },
          {
            "code": "HP:0010864",
            "display": "Intellectual disability, severe"
          },
          {
            "code": "HP:0001263",
            "display": "Global developmental delay"
          },
          {
            "code": "HP:0001290",
            "display": "Generalized hypotonia"
          },
          {
            "code": "HP:0001508",
            "display": "Failure to thrive"
          },
          {
            "code": "HP:0001999",
            "display": "Abnormal facial shape"
          },
          {
            "code": "HP:0001939",
            "display": "Abnormality of metabolism/homeostasis"
          },
          {
            "code": "HP:0000252",
            "display": "Microcephaly"
          },
          {
            "code": "HP:0000256",
            "display": "Macrocephaly"
          },
          {
            "code": "HP:0000098",
            "display": "Tall stature"
          },
          {
            "code": "HP:0004322",
            "display": "Short stature"
          },
          {
            "code": "HP:0002652",
            "display": "Skeletal dysplasia"
          },
          {
            "code": "HP:0000365",
            "display": "Hearing impairment"
          },
          {
            "code": "HP:0003560",
            "display": "Muscular dystrophy"
          },
          {
            "code": "HP:0003198",
            "display": "Myopathy"
          },
          {
            "code": "HP:0002486",
            "display": "Myotonia"
          },
          {
            "code": "HP:0009830",
            "display": "Peripheral neuropathy"
          },
          {
            "code": "HP:0100543",
            "display": "Cognitive impairment"
          },
          {
            "code": "HP:0001257",
            "display": "Spasticity"
          },
          {
            "code": "HP:0002072",
            "display": "Chorea"
          },
          {
            "code": "HP:0001332",
            "display": "Dystonia"
          },
          {
            "code": "HP:0001251",
            "display": "Ataxia"
          },
          {
            "code": "HP:0001272",
            "display": "Cerebellar atrophy"
          },
          {
            "code": "HP:0001321",
            "display": "Cerebellar hypoplasia"
          },
          {
            "code": "HP:0001250",
            "display": "Seizure"
          }
        ]
      }
    ]
  }
}