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 2025-03-31 |
{
"resourceType" : "ValueSet",
"id" : "fean-default-hpo",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet fean-default-hpo</b></p><a name=\"fean-default-hpo\"> </a><a name=\"hcfean-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:0000256</td><td>Macrocephaly</td><td>Macrocéphalie</td></tr><tr><td>HP:0000175</td><td>Cleft palate</td><td>Fente palatine</td></tr><tr><td>HP:0001320</td><td>Cerebellar vermis hypoplasia</td><td>Hypoplasie du vermis cérébelleux</td></tr><tr><td>HP:0001305</td><td>Dandy-Walker malformation</td><td>Malformation de Dandy-Walker</td></tr><tr><td>HP:0002539</td><td>Cortical dysplasia</td><td>Dysplasie du cortex cérébral</td></tr><tr><td>HP:0001710</td><td>Conotruncal heart defects</td><td>Anomalie conotroncale</td></tr><tr><td>HP:0001750</td><td>Single ventricle</td><td>Coeur univentriculaire</td></tr><tr><td>HP:0001642</td><td>Pulmonic stenosis</td><td>Sténose pulmonaire</td></tr><tr><td>HP:0001629</td><td>Ventricular septal defect</td><td>Communication interventriculaire</td></tr><tr><td>HP:0002032</td><td>Esophageal atresia</td><td>Atrésie de l'oesophage</td></tr><tr><td>HP:0000104</td><td>Renal agenesis</td><td>Agénésie rénale</td></tr><tr><td>HP:0004719</td><td>Hyperechogenic kidneys</td><td>Reins hyperéchogènes</td></tr><tr><td>HP:0000047</td><td>Hypospadias</td><td>Hypospadias</td></tr><tr><td>HP:0002652</td><td>Skeletal dysplasia</td><td>Dysplasie squelettique</td></tr><tr><td>HP:0100258</td><td>Preaxial polydactyly</td><td>Polydactylie pré-axiale</td></tr><tr><td>HP:0100259</td><td>Postaxial polydactyly</td><td>Polydactylie post-axiale</td></tr><tr><td>HP:0410049</td><td>Abnormal radial ray morphology</td><td>Anomalie du rayon radial</td></tr><tr><td>HP:0001511</td><td>Intrauterine growth retardation</td><td>Retard de croissance intra-utérin</td></tr><tr><td>HP:0001520</td><td>Large for gestational age</td><td>Macrosomie</td></tr><tr><td>HP:0002804</td><td>Arthrogryposis multiplex congenita</td><td>Arthrogrypose multiple congénitale</td></tr><tr><td>HP:0001789</td><td>Hydrops fetalis</td><td>Anasarque foetal</td></tr></table></li></ul></div>"
},
"url" : "http://fhir.cqgc.ferlab.bio/ValueSet/fean-default-hpo",
"version" : "0.1.0",
"name" : "fean-default-hpo",
"title" : "Fetal anomalies default clinical signs (HPO code)",
"status" : "active",
"experimental" : false,
"date" : "2025-03-31T10:49:27-04:00",
"publisher" : "Ferlab.bio",
"contact" : [
{
"name" : "Cqgc",
"telecom" : [
{
"system" : "email",
"value" : "mailto:support@ferlab.bio"
}
]
}
],
"description" : "Fetal anomalies 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:0000256",
"display" : "Macrocephaly",
"designation" : [
{
"language" : "fr",
"value" : "Macrocéphalie"
}
]
},
{
"code" : "HP:0000175",
"display" : "Cleft palate",
"designation" : [
{
"language" : "fr",
"value" : "Fente palatine"
}
]
},
{
"code" : "HP:0001320",
"display" : "Cerebellar vermis hypoplasia",
"designation" : [
{
"language" : "fr",
"value" : "Hypoplasie du vermis cérébelleux"
}
]
},
{
"code" : "HP:0001305",
"display" : "Dandy-Walker malformation",
"designation" : [
{
"language" : "fr",
"value" : "Malformation de Dandy-Walker"
}
]
},
{
"code" : "HP:0002539",
"display" : "Cortical dysplasia",
"designation" : [
{
"language" : "fr",
"value" : "Dysplasie du cortex cérébral"
}
]
},
{
"code" : "HP:0001710",
"display" : "Conotruncal heart defects",
"designation" : [
{
"language" : "fr",
"value" : "Anomalie conotroncale"
}
]
},
{
"code" : "HP:0001750",
"display" : "Single ventricle",
"designation" : [
{
"language" : "fr",
"value" : "Coeur univentriculaire"
}
]
},
{
"code" : "HP:0001642",
"display" : "Pulmonic stenosis",
"designation" : [
{
"language" : "fr",
"value" : "Sténose pulmonaire"
}
]
},
{
"code" : "HP:0001629",
"display" : "Ventricular septal defect",
"designation" : [
{
"language" : "fr",
"value" : "Communication interventriculaire"
}
]
},
{
"code" : "HP:0002032",
"display" : "Esophageal atresia",
"designation" : [
{
"language" : "fr",
"value" : "Atrésie de l'oesophage"
}
]
},
{
"code" : "HP:0000104",
"display" : "Renal agenesis",
"designation" : [
{
"language" : "fr",
"value" : "Agénésie rénale"
}
]
},
{
"code" : "HP:0004719",
"display" : "Hyperechogenic kidneys",
"designation" : [
{
"language" : "fr",
"value" : "Reins hyperéchogènes"
}
]
},
{
"code" : "HP:0000047",
"display" : "Hypospadias",
"designation" : [
{
"language" : "fr",
"value" : "Hypospadias"
}
]
},
{
"code" : "HP:0002652",
"display" : "Skeletal dysplasia",
"designation" : [
{
"language" : "fr",
"value" : "Dysplasie squelettique"
}
]
},
{
"code" : "HP:0100258",
"display" : "Preaxial polydactyly",
"designation" : [
{
"language" : "fr",
"value" : "Polydactylie pré-axiale"
}
]
},
{
"code" : "HP:0100259",
"display" : "Postaxial polydactyly",
"designation" : [
{
"language" : "fr",
"value" : "Polydactylie post-axiale"
}
]
},
{
"code" : "HP:0410049",
"display" : "Abnormal radial ray morphology",
"designation" : [
{
"language" : "fr",
"value" : "Anomalie du rayon radial"
}
]
},
{
"code" : "HP:0001511",
"display" : "Intrauterine growth retardation",
"designation" : [
{
"language" : "fr",
"value" : "Retard de croissance intra-utérin"
}
]
},
{
"code" : "HP:0001520",
"display" : "Large for gestational age",
"designation" : [
{
"language" : "fr",
"value" : "Macrosomie"
}
]
},
{
"code" : "HP:0002804",
"display" : "Arthrogryposis multiplex congenita",
"designation" : [
{
"language" : "fr",
"value" : "Arthrogrypose multiple congénitale"
}
]
},
{
"code" : "HP:0001789",
"display" : "Hydrops fetalis",
"designation" : [
{
"language" : "fr",
"value" : "Anasarque foetal"
}
]
}
]
}
]
}
}