Cqgc Implementation Guide
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: Ferlab.bio ValueSet/mmg-default-hpo - JSON Representation

Active as of 2020-08-13

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{
  "resourceType" : "ValueSet",
  "id" : "mmg-default-hpo",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet mmg-default-hpo</b></p><a name=\"mmg-default-hpo\"> </a><a name=\"hcmmg-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:0001319</td><td>Neonatal hypotonia</td><td>Hypotonie congénitale</td></tr><tr><td>HP:0002194</td><td>Delayed gross motor development</td><td>Retard de développement moteur</td></tr><tr><td>HP:0001324</td><td>Muscle weakness</td><td>Faiblesse musculaire</td></tr><tr><td>HP:0002093</td><td>Respiratory insufficiency</td><td>Insuffisance respiratoire</td></tr><tr><td>HP:0003546</td><td>Exercise intolerance</td><td>Intolérance à l’effort</td></tr><tr><td>HP:0003326</td><td>Myalgia</td><td>Myalgia</td></tr><tr><td>HP:0003394</td><td>Muscle spasm</td><td>Crampes musculaires</td></tr><tr><td>HP:0003201</td><td>Rhabdomyolysis</td><td>Rhabdomyolyse</td></tr><tr><td>HP:0002486</td><td>Myotonia</td><td>Myotonie</td></tr><tr><td>HP:0007819</td><td>Presenile cataracts</td><td>Cataractes précoces</td></tr><tr><td>HP:0002015</td><td>Dysphagia</td><td>Dysphagie</td></tr><tr><td>HP:0007838</td><td>Progressive ptosis</td><td>Ptose progressive</td></tr><tr><td>HP:0002047</td><td>Malignant hyperthermia</td><td>Hyperthermie maligne</td></tr><tr><td>HP:0001638</td><td>Cardiomyopathy</td><td>Cardiomyopathie</td></tr><tr><td>HP:0000602</td><td>Ophthalmoplegia</td><td>Ophtalmoplegie</td></tr><tr><td>HP:0001762</td><td>Talipes equinovarus</td><td>Pieds bots</td></tr></table></li></ul></div>"
  },
  "url" : "http://fhir.cqgc.ferlab.bio/ValueSet/mmg-default-hpo",
  "version" : "0.1.0",
  "name" : "mmg-default-hpo",
  "title" : "Muscle disease  default clinical signs (HPO code)",
  "status" : "active",
  "experimental" : false,
  "date" : "2020-08-13T10:49:27-04:00",
  "publisher" : "Ferlab.bio",
  "contact" : [
    {
      "name" : "Cqgc",
      "telecom" : [
        {
          "system" : "email",
          "value" : "mailto:support@ferlab.bio"
        }
      ]
    }
  ],
  "description" : "Muscle disease  default clinical signs (HPO code)",
  "compose" : {
    "include" : [
      {
        "system" : "http://purl.obolibrary.org/obo/hp.owl",
        "concept" : [
          {
            "code" : "HP:0001319",
            "display" : "Neonatal hypotonia",
            "designation" : [
              {
                "language" : "fr",
                "value" : "Hypotonie congénitale"
              }
            ]
          },
          {
            "code" : "HP:0002194",
            "display" : "Delayed gross motor development",
            "designation" : [
              {
                "language" : "fr",
                "value" : "Retard de développement moteur"
              }
            ]
          },
          {
            "code" : "HP:0001324",
            "display" : "Muscle weakness",
            "designation" : [
              {
                "language" : "fr",
                "value" : "Faiblesse musculaire"
              }
            ]
          },
          {
            "code" : "HP:0002093",
            "display" : "Respiratory insufficiency",
            "designation" : [
              {
                "language" : "fr",
                "value" : "Insuffisance respiratoire"
              }
            ]
          },
          {
            "code" : "HP:0003546",
            "display" : "Exercise intolerance",
            "designation" : [
              {
                "language" : "fr",
                "value" : "Intolérance à l’effort"
              }
            ]
          },
          {
            "code" : "HP:0003326",
            "display" : "Myalgia",
            "designation" : [
              {
                "language" : "fr",
                "value" : "Myalgia"
              }
            ]
          },
          {
            "code" : "HP:0003394",
            "display" : "Muscle spasm",
            "designation" : [
              {
                "language" : "fr",
                "value" : "Crampes musculaires"
              }
            ]
          },
          {
            "code" : "HP:0003201",
            "display" : "Rhabdomyolysis",
            "designation" : [
              {
                "language" : "fr",
                "value" : "Rhabdomyolyse"
              }
            ]
          },
          {
            "code" : "HP:0002486",
            "display" : "Myotonia",
            "designation" : [
              {
                "language" : "fr",
                "value" : "Myotonie"
              }
            ]
          },
          {
            "code" : "HP:0007819",
            "display" : "Presenile cataracts",
            "designation" : [
              {
                "language" : "fr",
                "value" : "Cataractes précoces"
              }
            ]
          },
          {
            "code" : "HP:0002015",
            "display" : "Dysphagia",
            "designation" : [
              {
                "language" : "fr",
                "value" : "Dysphagie"
              }
            ]
          },
          {
            "code" : "HP:0007838",
            "display" : "Progressive ptosis",
            "designation" : [
              {
                "language" : "fr",
                "value" : "Ptose progressive"
              }
            ]
          },
          {
            "code" : "HP:0002047",
            "display" : "Malignant hyperthermia",
            "designation" : [
              {
                "language" : "fr",
                "value" : "Hyperthermie maligne"
              }
            ]
          },
          {
            "code" : "HP:0001638",
            "display" : "Cardiomyopathy",
            "designation" : [
              {
                "language" : "fr",
                "value" : "Cardiomyopathie"
              }
            ]
          },
          {
            "code" : "HP:0000602",
            "display" : "Ophthalmoplegia",
            "designation" : [
              {
                "language" : "fr",
                "value" : "Ophtalmoplegie"
              }
            ]
          },
          {
            "code" : "HP:0001762",
            "display" : "Talipes equinovarus",
            "designation" : [
              {
                "language" : "fr",
                "value" : "Pieds bots"
              }
            ]
          }
        ]
      }
    ]
  }
}