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

Active as of 2020-08-13

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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 "mitn-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 mitn-default-hpo</b></p><a name=\"mitn-default-hpo\"> </a><a name=\"hcmitn-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:0003128</td><td>Lactic acidosis</td><td>Acidose lactique</td></tr><tr><td>HP:0001263</td><td>Global developmental delay</td><td>Retard global de développement</td></tr><tr><td>HP:0001290</td><td>Generalized hypotonia</td><td>Hypotonie généralisée</td></tr><tr><td>HP:0001250</td><td>Seizures</td><td>Crise d'épilepsie</td></tr><tr><td>HP:0006965</td><td>Acute necrotizing encephalopathy</td><td>Encéphalopathie nécrosante aiguë</td></tr><tr><td>HP:0001251</td><td>Ataxia</td><td>Ataxie</td></tr><tr><td>HP:0006554</td><td>Acute hepatic failure</td><td>Insuffisance hépatique aiguë</td></tr><tr><td>HP:0006582</td><td>Reye syndrome-like episodes</td><td>Épisodes de type syndrome de Reye</td></tr><tr><td>HP:0001638</td><td>Cardiomyopathy</td><td>Cardiomyopathie</td></tr><tr><td>HP:0001488</td><td>Bilateral ptosis</td><td>Ptose bilatérale</td></tr><tr><td>HP:0000508</td><td>Ptosis</td><td>Ptose</td></tr><tr><td>HP:0001138</td><td>Optic neuropathy</td><td>Neuropathie optique</td></tr><tr><td>HP:0000590</td><td>Progressive external ophthalmoplegia</td><td>Ophtalmoplégie externe progressive</td></tr></table></li></ul></div>"^^rdf:XMLLiteral
  ] ; # 
  fhir:url [ fhir:v "http://fhir.cqgc.ferlab.bio/ValueSet/mitn-default-hpo"^^xsd:anyURI] ; # 
  fhir:version [ fhir:v "0.1.0"] ; # 
  fhir:name [ fhir:v "mitn-default-hpo"] ; # 
  fhir:title [ fhir:v "Nuclear Mitochondriopathies default clinical signs (HPO code)"] ; # 
  fhir:status [ fhir:v "active"] ; # 
  fhir:experimental [ fhir:v false] ; # 
  fhir:date [ fhir:v "2020-08-13T10:49:27-04:00"^^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 "Category of Nuclear Mitochondriopathies 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:0003128" ] ;
fhir:display [ fhir:v "Lactic acidosis" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Acidose lactique" ]         ] )       ] [
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 global de développement" ]         ] )       ] [
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:0001250" ] ;
fhir:display [ fhir:v "Seizures" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Crise d'épilepsie" ]         ] )       ] [
fhir:code [ fhir:v "HP:0006965" ] ;
fhir:display [ fhir:v "Acute necrotizing encephalopathy" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Encéphalopathie nécrosante aiguë" ]         ] )       ] [
fhir:code [ fhir:v "HP:0001251" ] ;
fhir:display [ fhir:v "Ataxia" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Ataxie" ]         ] )       ] [
fhir:code [ fhir:v "HP:0006554" ] ;
fhir:display [ fhir:v "Acute hepatic failure" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Insuffisance hépatique aiguë" ]         ] )       ] [
fhir:code [ fhir:v "HP:0006582" ] ;
fhir:display [ fhir:v "Reye syndrome-like episodes" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Épisodes de type syndrome de Reye" ]         ] )       ] [
fhir:code [ fhir:v "HP:0001638" ] ;
fhir:display [ fhir:v "Cardiomyopathy" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Cardiomyopathie" ]         ] )       ] [
fhir:code [ fhir:v "HP:0001488" ] ;
fhir:display [ fhir:v "Bilateral ptosis" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Ptose bilatérale" ]         ] )       ] [
fhir:code [ fhir:v "HP:0000508" ] ;
fhir:display [ fhir:v "Ptosis" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Ptose" ]         ] )       ] [
fhir:code [ fhir:v "HP:0001138" ] ;
fhir:display [ fhir:v "Optic neuropathy" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Neuropathie optique" ]         ] )       ] [
fhir:code [ fhir:v "HP:0000590" ] ;
fhir:display [ fhir:v "Progressive external ophthalmoplegia" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Ophtalmoplégie externe progressive" ]         ] )       ] )     ] )
  ] . #