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 |
<ValueSet xmlns="http://hl7.org/fhir">
<id value="GMSWGSGuideHPOTermsVS"/>
<language value="en"/>
<text>
<status value="generated"/>
<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>
</text>
<url value="https://fhir.nwgenomics.nhs.uk/ValueSet/GMSWGSGuideHPOTermsVS"/>
<version value="2.2.0"/>
<name value="GMSWGSGuideHPOTermsVS"/>
<title value="GMS WGS Rare Disease Form - Guide HPO Terms"/>
<status value="draft"/>
<experimental value="true"/>
<date value="2026-09-20T05:53:36+00:00"/>
<publisher value="NHS North West Genomics"/>
<contact>
<telecom>
<system value="url"/>
<value value="https://www.nwgenomics.nhs.uk/contact-us"/>
</telecom>
</contact>
<description
value="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
- Rare
Disease](https://mft.nhs.uk/app/uploads/2026/05/GMS-WGS-Test-Order-Form-Rare-Disease.pdf).
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](ConceptMap-GMSWGSGuideHPOTermsToSCT.html) 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](Questionnaire-GMSWGSRareDisease.html)'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."/>
<jurisdiction>
<coding>
<system value="urn:iso:std:iso:3166"/>
<code value="GB"/>
<display value="United Kingdom of Great Britain and Northern Ireland"/>
</coding>
</jurisdiction>
<compose>
<include>
<system value="http://purl.obolibrary.org/obo/hp.owl"/>
<concept>
<code value="HP:0001639"/>
<display value="Hypertrophic cardiomyopathy"/>
</concept>
<concept>
<code value="HP:0001644"/>
<display value="Dilated cardiomyopathy"/>
</concept>
<concept>
<code value="HP:0001638"/>
<display value="Cardiomyopathy"/>
</concept>
<concept>
<code value="HP:0002721"/>
<display value="Immunodeficiency"/>
</concept>
<concept>
<code value="HP:0040088"/>
<display value="Abnormal lymphocyte count"/>
</concept>
<concept>
<code value="HP:0005368"/>
<display value="Abnormality of humoral immunity"/>
</concept>
<concept>
<code value="HP:0012647"/>
<display value="Abnormal inflammatory response"/>
</concept>
<concept>
<code value="HP:0000518"/>
<display value="Cataract"/>
</concept>
<concept>
<code value="HP:0000556"/>
<display value="Retinal dystrophy"/>
</concept>
<concept>
<code value="HP:0007754"/>
<display value="Macular dystrophy"/>
</concept>
<concept>
<code value="HP:0005562"/>
<display value="Multiple renal cysts"/>
</concept>
<concept>
<code value="HP:0001407"/>
<display value="Hepatic cysts"/>
</concept>
<concept>
<code value="HP:0002342"/>
<display value="Intellectual disability, moderate"/>
</concept>
<concept>
<code value="HP:0002187"/>
<display value="Intellectual disability, profound"/>
</concept>
<concept>
<code value="HP:0010864"/>
<display value="Intellectual disability, severe"/>
</concept>
<concept>
<code value="HP:0001263"/>
<display value="Global developmental delay"/>
</concept>
<concept>
<code value="HP:0001290"/>
<display value="Generalized hypotonia"/>
</concept>
<concept>
<code value="HP:0001508"/>
<display value="Failure to thrive"/>
</concept>
<concept>
<code value="HP:0001999"/>
<display value="Abnormal facial shape"/>
</concept>
<concept>
<code value="HP:0001939"/>
<display value="Abnormality of metabolism/homeostasis"/>
</concept>
<concept>
<code value="HP:0000252"/>
<display value="Microcephaly"/>
</concept>
<concept>
<code value="HP:0000256"/>
<display value="Macrocephaly"/>
</concept>
<concept>
<code value="HP:0000098"/>
<display value="Tall stature"/>
</concept>
<concept>
<code value="HP:0004322"/>
<display value="Short stature"/>
</concept>
<concept>
<code value="HP:0002652"/>
<display value="Skeletal dysplasia"/>
</concept>
<concept>
<code value="HP:0000365"/>
<display value="Hearing impairment"/>
</concept>
<concept>
<code value="HP:0003560"/>
<display value="Muscular dystrophy"/>
</concept>
<concept>
<code value="HP:0003198"/>
<display value="Myopathy"/>
</concept>
<concept>
<code value="HP:0002486"/>
<display value="Myotonia"/>
</concept>
<concept>
<code value="HP:0009830"/>
<display value="Peripheral neuropathy"/>
</concept>
<concept>
<code value="HP:0100543"/>
<display value="Cognitive impairment"/>
</concept>
<concept>
<code value="HP:0001257"/>
<display value="Spasticity"/>
</concept>
<concept>
<code value="HP:0002072"/>
<display value="Chorea"/>
</concept>
<concept>
<code value="HP:0001332"/>
<display value="Dystonia"/>
</concept>
<concept>
<code value="HP:0001251"/>
<display value="Ataxia"/>
</concept>
<concept>
<code value="HP:0001272"/>
<display value="Cerebellar atrophy"/>
</concept>
<concept>
<code value="HP:0001321"/>
<display value="Cerebellar hypoplasia"/>
</concept>
<concept>
<code value="HP:0001250"/>
<display value="Seizure"/>
</concept>
</include>
</compose>
</ValueSet>