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/GMSWGSGuideHPOTermsVS | Version: 2.2.0 | ||||
| Draft as of 2026-09-20 | Computable Name: GMSWGSGuideHPOTermsVS | ||||
The 38 example HPO (Human Phenotype Ontology) terms shown as a guide (rendered as an image, not selectable text, so no codes were available directly from the form itself) on page 2 of the [GMS WGS Test Request Form
Unlike the CodeSystem this ValueSet previously drew from, these are
real HPO codes (http://purl.obolibrary.org/obo/hp.owl, release
20191108) - confirmed against the Genomics England terminology server
(https://ontoserver.aws.gel.ac/fhir) via CodeSystem/$lookup, not
guessed. See GMSWGSGuideHPOTermsToSCT
ConceptMap for the SNOMED CT
mapping built from the same verification pass (27 of these 38 resolved;
the rest have no entry in that server's own sct-to-hpo map).
Bound as #open-choice on
Questionnaire-GMSWGSRareDisease's
NOS/HPOTerm item, so these 38 terms are offered as quick picks without
preventing free-text/other-code entry of any other HPO term, consistent
with the source form's own "guide … not an exhaustive list" wording.
References
http://purl.obolibrary.org/obo/hp.owl version Not Stated (use latest from terminology server)| Code | Display |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0001638 | Cardiomyopathy |
| HP:0002721 | Immunodeficiency |
| HP:0040088 | Abnormal lymphocyte count |
| HP:0005368 | Abnormality of humoral immunity |
| HP:0012647 | Abnormal inflammatory response |
| HP:0000518 | Cataract |
| HP:0000556 | Retinal dystrophy |
| HP:0007754 | Macular dystrophy |
| HP:0005562 | Multiple renal cysts |
| HP:0001407 | Hepatic cysts |
| HP:0002342 | Intellectual disability, moderate |
| HP:0002187 | Intellectual disability, profound |
| HP:0010864 | Intellectual disability, severe |
| HP:0001263 | Global developmental delay |
| HP:0001290 | Generalized hypotonia |
| HP:0001508 | Failure to thrive |
| HP:0001999 | Abnormal facial shape |
| HP:0001939 | Abnormality of metabolism/homeostasis |
| HP:0000252 | Microcephaly |
| HP:0000256 | Macrocephaly |
| HP:0000098 | Tall stature |
| HP:0004322 | Short stature |
| HP:0002652 | Skeletal dysplasia |
| HP:0000365 | Hearing impairment |
| HP:0003560 | Muscular dystrophy |
| HP:0003198 | Myopathy |
| HP:0002486 | Myotonia |
| HP:0009830 | Peripheral neuropathy |
| HP:0100543 | Cognitive impairment |
| HP:0001257 | Spasticity |
| HP:0002072 | Chorea |
| HP:0001332 | Dystonia |
| HP:0001251 | Ataxia |
| HP:0001272 | Cerebellar atrophy |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0001250 | Seizure |
Expansion from tx.ontoserver.csiro.au based on codesystem hp.owl version 20221005
This value set contains 38 concepts