HL7 PT FHIR Implementation Guide: Noticia de Nascimento, published by HL7 Portugal. This guide is not an authorized publication; it is the continuous build for version 0.0.1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/hl7-pt/obs-neonat-ig/ and changes regularly. See the Directory of published versions

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: Tipos de doença congénita ValueSet - JSON Representation

Active as of 2024-12-04

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{
  "resourceType" : "ValueSet",
  "id" : "newborn-congenital-anomalies-vs",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet newborn-congenital-anomalies-vs</b></p><a name=\"newborn-congenital-anomalies-vs\"> </a><a name=\"hcnewborn-congenital-anomalies-vs\"> </a><a name=\"newborn-congenital-anomalies-vs-pt-PT\"> </a><ul><li>Include these codes as defined in <a href=\"http://www.snomed.org/\"><code>http://snomed.info/sct</code></a><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href=\"http://snomed.info/id/89369001\">89369001</a></td><td>Anencephalus</td></tr><tr><td><a href=\"http://snomed.info/id/67531005\">67531005</a></td><td>Meningomyelocele/Spina bifida</td></tr><tr><td><a href=\"http://snomed.info/id/12770006\">12770006</a></td><td>Cyanotic congenital heart disease</td></tr><tr><td><a href=\"http://snomed.info/id/17190001\">17190001</a></td><td>Congenital diaphragmatic hernia</td></tr><tr><td><a href=\"http://snomed.info/id/18735004\">18735004</a></td><td>Congenital omphalocele</td></tr><tr><td><a href=\"http://snomed.info/id/72951007\">72951007</a></td><td>Gastroschisis</td></tr><tr><td><a href=\"http://snomed.info/id/67341007\">67341007</a></td><td>Longitudinal deficiency of limb - Limb reduction defect (excluding congenital amputation and dwarfing syndromes)</td></tr><tr><td><a href=\"http://snomed.info/id/80281008\">80281008</a></td><td>Cleft Lip with or without Cleft Palate</td></tr><tr><td><a href=\"http://snomed.info/id/87979003\">87979003</a></td><td>Cleft palate</td></tr><tr><td><a href=\"http://snomed.info/id/70156005\">70156005</a></td><td>Anomaly of chromosome pair 21</td></tr><tr><td><a href=\"http://snomed.info/id/409709004\">409709004</a></td><td>Chromosomal disorder</td></tr><tr><td><a href=\"http://snomed.info/id/416010008\">416010008</a></td><td>Hypospadias</td></tr><tr><td><a href=\"http://snomed.info/id/282332003\">282332003</a></td><td>No abnormality detected - examination result</td></tr></table></li></ul></div>"
  },
  "url" : "https://hl7.pt/fhir/NoticiaNascimento/ValueSet/newborn-congenital-anomalies-vs",
  "version" : "0.0.1",
  "name" : "NewbornCongenitalAnomaliesVS",
  "title" : "Tipos de doença congénita ValueSet",
  "status" : "active",
  "experimental" : false,
  "date" : "2024-12-04T15:23:35+00:00",
  "publisher" : "HL7 Portugal",
  "contact" : [
    {
      "name" : "HL7 Portugal",
      "telecom" : [
        {
          "system" : "url",
          "value" : "http://hl7.pt"
        },
        {
          "system" : "email",
          "value" : "info@hl7.pt"
        }
      ]
    },
    {
      "name" : "HL7 Portugal",
      "telecom" : [
        {
          "system" : "email",
          "value" : "geral@hl7.pt",
          "use" : "work"
        }
      ]
    }
  ],
  "description" : "Tipos de doença congénita ValueSet",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "urn:iso:std:iso:3166",
          "code" : "PT",
          "display" : "Portugal"
        }
      ]
    }
  ],
  "compose" : {
    "include" : [
      {
        "system" : "http://snomed.info/sct",
        "concept" : [
          {
            "code" : "89369001",
            "display" : "Anencephalus"
          },
          {
            "code" : "67531005",
            "display" : "Meningomyelocele/Spina bifida"
          },
          {
            "code" : "12770006",
            "display" : "Cyanotic congenital heart disease"
          },
          {
            "code" : "17190001",
            "display" : "Congenital diaphragmatic hernia"
          },
          {
            "code" : "18735004",
            "display" : "Congenital omphalocele"
          },
          {
            "code" : "72951007",
            "display" : "Gastroschisis"
          },
          {
            "code" : "67341007",
            "display" : "Longitudinal deficiency of limb - Limb reduction defect (excluding congenital amputation and dwarfing syndromes)"
          },
          {
            "code" : "80281008",
            "display" : "Cleft Lip with or without Cleft Palate"
          },
          {
            "code" : "87979003",
            "display" : "Cleft palate"
          },
          {
            "code" : "70156005",
            "display" : "Anomaly of chromosome pair 21"
          },
          {
            "code" : "409709004",
            "display" : "Chromosomal disorder"
          },
          {
            "code" : "416010008",
            "display" : "Hypospadias"
          },
          {
            "code" : "282332003",
            "display" : "No abnormality detected - examination result"
          }
        ]
      }
    ]
  }
}