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
| Draft as of 2026-09-20 |
{
"resourceType" : "ValueSet",
"id" : "GMSWGSGuideHPOTermsVS",
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet GMSWGSGuideHPOTermsVS</b></p><a name=\"GMSWGSGuideHPOTermsVS\"> </a><a name=\"hcGMSWGSGuideHPOTermsVS\"> </a><ul><li>Include these codes as defined in <code>http://purl.obolibrary.org/obo/hp.owl</code><span title=\"Version is not explicitly stated. No matching Code System found\"> version Not Stated (use latest from terminology server)</span><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td>HP:0001639</td><td>Hypertrophic cardiomyopathy</td></tr><tr><td>HP:0001644</td><td>Dilated cardiomyopathy</td></tr><tr><td>HP:0001638</td><td>Cardiomyopathy</td></tr><tr><td>HP:0002721</td><td>Immunodeficiency</td></tr><tr><td>HP:0040088</td><td>Abnormal lymphocyte count</td></tr><tr><td>HP:0005368</td><td>Abnormality of humoral immunity</td></tr><tr><td>HP:0012647</td><td>Abnormal inflammatory response</td></tr><tr><td>HP:0000518</td><td>Cataract</td></tr><tr><td>HP:0000556</td><td>Retinal dystrophy</td></tr><tr><td>HP:0007754</td><td>Macular dystrophy</td></tr><tr><td>HP:0005562</td><td>Multiple renal cysts</td></tr><tr><td>HP:0001407</td><td>Hepatic cysts</td></tr><tr><td>HP:0002342</td><td>Intellectual disability, moderate</td></tr><tr><td>HP:0002187</td><td>Intellectual disability, profound</td></tr><tr><td>HP:0010864</td><td>Intellectual disability, severe</td></tr><tr><td>HP:0001263</td><td>Global developmental delay</td></tr><tr><td>HP:0001290</td><td>Generalized hypotonia</td></tr><tr><td>HP:0001508</td><td>Failure to thrive</td></tr><tr><td>HP:0001999</td><td>Abnormal facial shape</td></tr><tr><td>HP:0001939</td><td>Abnormality of metabolism/homeostasis</td></tr><tr><td>HP:0000252</td><td>Microcephaly</td></tr><tr><td>HP:0000256</td><td>Macrocephaly</td></tr><tr><td>HP:0000098</td><td>Tall stature</td></tr><tr><td>HP:0004322</td><td>Short stature</td></tr><tr><td>HP:0002652</td><td>Skeletal dysplasia</td></tr><tr><td>HP:0000365</td><td>Hearing impairment</td></tr><tr><td>HP:0003560</td><td>Muscular dystrophy</td></tr><tr><td>HP:0003198</td><td>Myopathy</td></tr><tr><td>HP:0002486</td><td>Myotonia</td></tr><tr><td>HP:0009830</td><td>Peripheral neuropathy</td></tr><tr><td>HP:0100543</td><td>Cognitive impairment</td></tr><tr><td>HP:0001257</td><td>Spasticity</td></tr><tr><td>HP:0002072</td><td>Chorea</td></tr><tr><td>HP:0001332</td><td>Dystonia</td></tr><tr><td>HP:0001251</td><td>Ataxia</td></tr><tr><td>HP:0001272</td><td>Cerebellar atrophy</td></tr><tr><td>HP:0001321</td><td>Cerebellar hypoplasia</td></tr><tr><td>HP:0001250</td><td>Seizure</td></tr></table></li></ul></div>"
},
"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" : "2026-09-20T05:53:36+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"
}
]
}
]
}
}