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 |
{
"resourceType" : "ValueSet",
"id" : "genor-default-hpo",
"text" : {
"status" : "generated",
"div" : "<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>"
},
"url" : "http://fhir.cqgc.ferlab.bio/ValueSet/genor-default-hpo",
"version" : "0.1.0",
"name" : "genor-default-hpo",
"title" : "Normal genome default clinical signs (HPO code)",
"status" : "active",
"experimental" : false,
"date" : "2025-07-03T10:49:27-04:00",
"publisher" : "Ferlab.bio",
"contact" : [
{
"name" : "Cqgc",
"telecom" : [
{
"system" : "email",
"value" : "mailto:support@ferlab.bio"
}
]
}
],
"description" : "Normal genome default clinical signs (HPO code)",
"compose" : {
"include" : [
{
"system" : "http://purl.obolibrary.org/obo/hp.owl",
"concept" : [
{
"code" : "HP:0000252",
"display" : "Microcephaly",
"designation" : [
{
"language" : "fr",
"value" : "Microcéphalie"
}
]
},
{
"code" : "HP:0000750",
"display" : "Delayed speech and language development",
"designation" : [
{
"language" : "fr",
"value" : "Retard développemental du langage et de la parole"
}
]
},
{
"code" : "HP:0001250",
"display" : "Seizure",
"designation" : [
{
"language" : "fr",
"value" : "Epilépsie"
}
]
},
{
"code" : "HP:0001252",
"display" : "Hypotonia",
"designation" : [
{
"language" : "fr",
"value" : "Hypotonie musculaire"
}
]
},
{
"code" : "HP:0001263",
"display" : "Global developmental delay",
"designation" : [
{
"language" : "fr",
"value" : "Retard de développement global"
}
]
},
{
"code" : "HP:0001290",
"display" : "Generalized hypotonia",
"designation" : [
{
"language" : "fr",
"value" : "Hypotonie généralisée"
}
]
},
{
"code" : "HP:0001319",
"display" : "Neonatal hypotonia",
"designation" : [
{
"language" : "fr",
"value" : "Hypotonie néonatale"
}
]
},
{
"code" : "HP:0001508",
"display" : "Failure to thrive",
"designation" : [
{
"language" : "fr",
"value" : "Retard de croissance post-natal"
}
]
},
{
"code" : "HP:0001511",
"display" : "Intrauterine growth retardation",
"designation" : [
{
"language" : "fr",
"value" : "Retard de croissance intra-utérin"
}
]
}
]
}
]
}
}