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

Active as of 2025-03-31

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