Cqgc Implementation Guide
0.1.0 - CI Build
Cqgc Implementation Guide - Local Development build (v0.1.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
| Active as of 2025-07-03 |
<ValueSet xmlns="http://hl7.org/fhir">
<id value="genor-default-hpo"/>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: ValueSet genor-default-hpo</b></p><a name="genor-default-hpo"> </a><a name="hcgenor-default-hpo"> </a><ul><li>Include these codes as defined in <code>http://purl.obolibrary.org/obo/hp.owl</code><table class="none"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td><td><b>French (fr)</b></td></tr><tr><td>HP:0000252</td><td>Microcephaly</td><td>Microcéphalie</td></tr><tr><td>HP:0000750</td><td>Delayed speech and language development</td><td>Retard développemental du langage et de la parole</td></tr><tr><td>HP:0001250</td><td>Seizure</td><td>Epilépsie</td></tr><tr><td>HP:0001252</td><td>Hypotonia</td><td>Hypotonie musculaire</td></tr><tr><td>HP:0001263</td><td>Global developmental delay</td><td>Retard de développement global</td></tr><tr><td>HP:0001290</td><td>Generalized hypotonia</td><td>Hypotonie généralisée</td></tr><tr><td>HP:0001319</td><td>Neonatal hypotonia</td><td>Hypotonie néonatale</td></tr><tr><td>HP:0001508</td><td>Failure to thrive</td><td>Retard de croissance post-natal</td></tr><tr><td>HP:0001511</td><td>Intrauterine growth retardation</td><td>Retard de croissance intra-utérin</td></tr></table></li></ul></div>
</text>
<url value="http://fhir.cqgc.ferlab.bio/ValueSet/genor-default-hpo"/>
<version value="0.1.0"/>
<name value="genor-default-hpo"/>
<title value="Normal genome default clinical signs (HPO code)"/>
<status value="active"/>
<experimental value="false"/>
<date value="2025-07-03T10:49:27-04:00"/>
<publisher value="Ferlab.bio"/>
<contact>
<name value="Cqgc"/>
<telecom>
<system value="email"/>
<value value="mailto:support@ferlab.bio"/>
</telecom>
</contact>
<description value="Normal genome default clinical signs (HPO code)"/>
<compose>
<include>
<system value="http://purl.obolibrary.org/obo/hp.owl"/>
<concept>
<code value="HP:0000252"/>
<display value="Microcephaly"/>
<designation>
<language value="fr"/>
<value value="Microcéphalie"/>
</designation>
</concept>
<concept>
<code value="HP:0000750"/>
<display value="Delayed speech and language development"/>
<designation>
<language value="fr"/>
<value value="Retard développemental du langage et de la parole"/>
</designation>
</concept>
<concept>
<code value="HP:0001250"/>
<display value="Seizure"/>
<designation>
<language value="fr"/>
<value value="Epilépsie"/>
</designation>
</concept>
<concept>
<code value="HP:0001252"/>
<display value="Hypotonia"/>
<designation>
<language value="fr"/>
<value value="Hypotonie musculaire"/>
</designation>
</concept>
<concept>
<code value="HP:0001263"/>
<display value="Global developmental delay"/>
<designation>
<language value="fr"/>
<value value="Retard de développement global"/>
</designation>
</concept>
<concept>
<code value="HP:0001290"/>
<display value="Generalized hypotonia"/>
<designation>
<language value="fr"/>
<value value="Hypotonie généralisée"/>
</designation>
</concept>
<concept>
<code value="HP:0001319"/>
<display value="Neonatal hypotonia"/>
<designation>
<language value="fr"/>
<value value="Hypotonie néonatale"/>
</designation>
</concept>
<concept>
<code value="HP:0001508"/>
<display value="Failure to thrive"/>
<designation>
<language value="fr"/>
<value value="Retard de croissance post-natal"/>
</designation>
</concept>
<concept>
<code value="HP:0001511"/>
<display value="Intrauterine growth retardation"/>
<designation>
<language value="fr"/>
<value value="Retard de croissance intra-utérin"/>
</designation>
</concept>
</include>
</compose>
</ValueSet>