Cqgc Implementation Guide
0.1.0 - CI Build

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: Normal genome default clinical signs (HPO code) - TTL Representation

Active as of 2025-07-03

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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 "genor-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 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>"^^rdf:XMLLiteral
  ] ; # 
  fhir:url [ fhir:v "http://fhir.cqgc.ferlab.bio/ValueSet/genor-default-hpo"^^xsd:anyURI] ; # 
  fhir:version [ fhir:v "0.1.0"] ; # 
  fhir:name [ fhir:v "genor-default-hpo"] ; # 
  fhir:title [ fhir:v "Normal genome default clinical signs (HPO code)"] ; # 
  fhir:status [ fhir:v "active"] ; # 
  fhir:experimental [ fhir:v false] ; # 
  fhir:date [ fhir:v "2025-07-03T10:49:27-04:00"^^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 "Normal genome 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:0000750" ] ;
fhir:display [ fhir:v "Delayed speech and language development" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Retard développemental du langage et de la parole" ]         ] )       ] [
fhir:code [ fhir:v "HP:0001250" ] ;
fhir:display [ fhir:v "Seizure" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Epilépsie" ]         ] )       ] [
fhir:code [ fhir:v "HP:0001252" ] ;
fhir:display [ fhir:v "Hypotonia" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Hypotonie musculaire" ]         ] )       ] [
fhir:code [ fhir:v "HP:0001263" ] ;
fhir:display [ fhir:v "Global developmental delay" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Retard de développement global" ]         ] )       ] [
fhir:code [ fhir:v "HP:0001290" ] ;
fhir:display [ fhir:v "Generalized hypotonia" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Hypotonie généralisée" ]         ] )       ] [
fhir:code [ fhir:v "HP:0001319" ] ;
fhir:display [ fhir:v "Neonatal hypotonia" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Hypotonie néonatale" ]         ] )       ] [
fhir:code [ fhir:v "HP:0001508" ] ;
fhir:display [ fhir:v "Failure to thrive" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Retard de croissance post-natal" ]         ] )       ] [
fhir:code [ fhir:v "HP:0001511" ] ;
fhir:display [ fhir:v "Intrauterine growth retardation" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Retard de croissance intra-utérin" ]         ] )       ] )     ] )
  ] . #