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

Active as of 2020-08-13

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{
  "resourceType" : "ValueSet",
  "id" : "rgdi-default-hpo",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet rgdi-default-hpo</b></p><a name=\"rgdi-default-hpo\"> </a><a name=\"hcrgdi-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:0001249</td><td>Intellectual disability</td><td>Déficience intellectuelle</td></tr><tr><td>HP:0000729</td><td>Autistic behavior</td><td>Comportement autistique</td></tr><tr><td>HP:0001344</td><td>Absent speech</td><td>Discours absent</td></tr><tr><td>HP:0011344</td><td>Severe global developmental delay</td><td>Retard de développement global sévère</td></tr><tr><td>HP:0011343</td><td>Moderate global developmental delay</td><td>Retard de développement global modéré</td></tr><tr><td>HP:0011342</td><td>Mild global developmental delay</td><td>Léger retard de développement global</td></tr><tr><td>HP:0000256</td><td>Macrocephaly</td><td>Macrocéphalie</td></tr><tr><td>HP:0000252</td><td>Microcephaly</td><td>Microcéphalie</td></tr><tr><td>HP:0001250</td><td>Seizure</td><td>Crise d'épilepsie</td></tr><tr><td>HP:0031375</td><td>Refractory</td><td>Réfractaire</td></tr><tr><td>HP:0001510</td><td>Growth delay</td><td>Retard de croissance</td></tr><tr><td>HP:0012443</td><td>Abnormality of brain morphology</td><td>Anomalie de la morphologie cérébrale</td></tr></table></li></ul></div>"
  },
  "url" : "http://fhir.cqgc.ferlab.bio/ValueSet/rgdi-default-hpo",
  "version" : "0.1.0",
  "name" : "rgdi-default-hpo",
  "title" : "Global developmental Delay / intellectual deficiency 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" : "Global developmental Delay / intellectual deficiency default clinical signs (HPO code)",
  "compose" : {
    "include" : [
      {
        "system" : "http://purl.obolibrary.org/obo/hp.owl",
        "concept" : [
          {
            "code" : "HP:0001249",
            "display" : "Intellectual disability",
            "designation" : [
              {
                "language" : "fr",
                "value" : "Déficience intellectuelle"
              }
            ]
          },
          {
            "code" : "HP:0000729",
            "display" : "Autistic behavior",
            "designation" : [
              {
                "language" : "fr",
                "value" : "Comportement autistique"
              }
            ]
          },
          {
            "code" : "HP:0001344",
            "display" : "Absent speech",
            "designation" : [
              {
                "language" : "fr",
                "value" : "Discours absent"
              }
            ]
          },
          {
            "code" : "HP:0011344",
            "display" : "Severe global developmental delay",
            "designation" : [
              {
                "language" : "fr",
                "value" : "Retard de développement global sévère"
              }
            ]
          },
          {
            "code" : "HP:0011343",
            "display" : "Moderate global developmental delay",
            "designation" : [
              {
                "language" : "fr",
                "value" : "Retard de développement global modéré"
              }
            ]
          },
          {
            "code" : "HP:0011342",
            "display" : "Mild global developmental delay",
            "designation" : [
              {
                "language" : "fr",
                "value" : "Léger retard de développement global"
              }
            ]
          },
          {
            "code" : "HP:0000256",
            "display" : "Macrocephaly",
            "designation" : [
              {
                "language" : "fr",
                "value" : "Macrocéphalie"
              }
            ]
          },
          {
            "code" : "HP:0000252",
            "display" : "Microcephaly",
            "designation" : [
              {
                "language" : "fr",
                "value" : "Microcéphalie"
              }
            ]
          },
          {
            "code" : "HP:0001250",
            "display" : "Seizure",
            "designation" : [
              {
                "language" : "fr",
                "value" : "Crise d'épilepsie"
              }
            ]
          },
          {
            "code" : "HP:0031375",
            "display" : "Refractory",
            "designation" : [
              {
                "language" : "fr",
                "value" : "Réfractaire"
              }
            ]
          },
          {
            "code" : "HP:0001510",
            "display" : "Growth delay",
            "designation" : [
              {
                "language" : "fr",
                "value" : "Retard de croissance"
              }
            ]
          },
          {
            "code" : "HP:0012443",
            "display" : "Abnormality of brain morphology",
            "designation" : [
              {
                "language" : "fr",
                "value" : "Anomalie de la morphologie cérébrale"
              }
            ]
          }
        ]
      }
    ]
  }
}