Cqgc Implementation Guide
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: Ferlab.bio ValueSet/polym-default-hpo - TTL Representation

Active as of 2025-03-31

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@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

 a fhir:ValueSet ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "polym-default-hpo"] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet polym-default-hpo</b></p><a name=\"polym-default-hpo\"> </a><a name=\"hcpolym-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: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:0004322</td><td>Short stature</td><td>Petite taille</td></tr><tr><td>HP:0001520</td><td>Large for gestational age</td><td>Macrosomie</td></tr></table></li></ul></div>"^^rdf:XMLLiteral
  ] ; # 
  fhir:url [ fhir:v "http://fhir.cqgc.ferlab.bio/ValueSet/polym-default-hpo"^^xsd:anyURI] ; # 
  fhir:version [ fhir:v "0.1.0"] ; # 
  fhir:name [ fhir:v "polym-default-hpo"] ; # 
  fhir:title [ fhir:v "Polymalformation default clinical signs (HPO code)"] ; # 
  fhir:status [ fhir:v "active"] ; # 
  fhir:experimental [ fhir:v false] ; # 
  fhir:date [ fhir:v "2025-03-31T10:49:27-04:00"^^xsd:dateTime] ; # 
  fhir:publisher [ fhir:v "Ferlab.bio"] ; # 
  fhir:contact ( [
fhir:name [ fhir:v "Cqgc" ] ;
    ( fhir:telecom [
fhir:system [ fhir:v "email" ] ;
fhir:value [ fhir:v "mailto:support@ferlab.bio" ]     ] )
  ] ) ; # 
  fhir:description [ fhir:v "Polymalformation default clinical signs (HPO code)"] ; # 
  fhir:compose [
    ( fhir:include [
fhir:system [ fhir:v "http://purl.obolibrary.org/obo/hp.owl"^^xsd:anyURI ] ;
      ( fhir:concept [
fhir:code [ fhir:v "HP:0000252" ] ;
fhir:display [ fhir:v "Microcephaly" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Microcéphalie" ]         ] )       ] [
fhir:code [ fhir:v "HP:0000256" ] ;
fhir:display [ fhir:v "Macrocephaly" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Macrocéphalie" ]         ] )       ] [
fhir:code [ fhir:v "HP:0000175" ] ;
fhir:display [ fhir:v "Cleft palate" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Fente palatine" ]         ] )       ] [
fhir:code [ fhir:v "HP:0001320" ] ;
fhir:display [ fhir:v "Cerebellar vermis hypoplasia" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Hypoplasie du vermis cérébelleux" ]         ] )       ] [
fhir:code [ fhir:v "HP:0001305" ] ;
fhir:display [ fhir:v "Dandy-Walker malformation" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Malformation de Dandy-Walker" ]         ] )       ] [
fhir:code [ fhir:v "HP:0002539" ] ;
fhir:display [ fhir:v "Cortical dysplasia" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Dysplasie du cortex cérébral" ]         ] )       ] [
fhir:code [ fhir:v "HP:0001710" ] ;
fhir:display [ fhir:v "Conotruncal heart defects" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Anomalie conotroncale" ]         ] )       ] [
fhir:code [ fhir:v "HP:0001750" ] ;
fhir:display [ fhir:v "Single ventricle" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Coeur univentriculaire" ]         ] )       ] [
fhir:code [ fhir:v "HP:0001642" ] ;
fhir:display [ fhir:v "Pulmonic stenosis" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Sténose pulmonaire" ]         ] )       ] [
fhir:code [ fhir:v "HP:0001629" ] ;
fhir:display [ fhir:v "Ventricular septal defect" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Communication interventriculaire" ]         ] )       ] [
fhir:code [ fhir:v "HP:0002032" ] ;
fhir:display [ fhir:v "Esophageal atresia" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Atrésie de l'oesophage" ]         ] )       ] [
fhir:code [ fhir:v "HP:0000104" ] ;
fhir:display [ fhir:v "Renal agenesis" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Agénésie rénale" ]         ] )       ] [
fhir:code [ fhir:v "HP:0000047" ] ;
fhir:display [ fhir:v "Hypospadias" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Hypospadias" ]         ] )       ] [
fhir:code [ fhir:v "HP:0002652" ] ;
fhir:display [ fhir:v "Skeletal dysplasia" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Dysplasie squelettique" ]         ] )       ] [
fhir:code [ fhir:v "HP:0100258" ] ;
fhir:display [ fhir:v "Preaxial polydactyly" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Polydactylie pré-axiale" ]         ] )       ] [
fhir:code [ fhir:v "HP:0100259" ] ;
fhir:display [ fhir:v "Postaxial polydactyly" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Polydactylie post-axiale" ]         ] )       ] [
fhir:code [ fhir:v "HP:0410049" ] ;
fhir:display [ fhir:v "Abnormal radial ray morphology" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Anomalie du rayon radial" ]         ] )       ] [
fhir:code [ fhir:v "HP:0004322" ] ;
fhir:display [ fhir:v "Short stature" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Petite taille" ]         ] )       ] [
fhir:code [ fhir:v "HP:0001520" ] ;
fhir:display [ fhir:v "Large for gestational age" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Macrosomie" ]         ] )       ] )     ] )
  ] . #