Birth And Fetal Death (BFDR) FHIR Implementation Guide
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: Newborn Congenital Anomalies - JSON Representation

Active as of 2024-10-15

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{
  "resourceType" : "ValueSet",
  "id" : "ValueSet-newborn-congenital-anomalies",
  "text" : {
    "status" : "extensions",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet ValueSet-newborn-congenital-anomalies</b></p><a name=\"ValueSet-newborn-congenital-anomalies\"> </a><a name=\"hcValueSet-newborn-congenital-anomalies\"> </a><a name=\"ValueSet-newborn-congenital-anomalies-en-US\"> </a><p>This value set includes codes based on the following rules:</p><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></table></li><li>Include these codes as defined in <a href=\"http://terminology.hl7.org/6.0.2/CodeSystem-v3-NullFlavor.html\"><code>http://terminology.hl7.org/CodeSystem/v3-NullFlavor</code></a><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td><a href=\"http://terminology.hl7.org/6.0.2/CodeSystem-v3-NullFlavor.html#v3-NullFlavor-OTH\">OTH</a></td><td>Other</td><td>**Description:**The actual value is not a member of the set of permitted data values in the constrained value domain of a variable. (e.g., concept not provided by required code system).<br/><br/>**Usage Notes**: This flavor and its specializations are most commonly used with the CD datatype and its flavors. However, it may apply to \\*any\\* datatype where the constraints of the type are tighter than can be conveyed. For example, a PQ that is for a true measured amount whose units are not supported in UCUM, a need to convey a REAL when the type has been constrained to INT, etc.<br/><br/>With coded datatypes, this null flavor may only be used if the vocabulary binding has a coding strength of CNE. By definition, all local codes and original text are part of the value set if the coding strength is CWE.</td></tr></table></li></ul></div>"
  },
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
      "valueCode" : "pher"
    }
  ],
  "url" : "http://hl7.org/fhir/us/bfdr/ValueSet/ValueSet-newborn-congenital-anomalies",
  "identifier" : [
    {
      "system" : "urn:ietf:rfc:3986",
      "value" : "urn:oid:2.16.840.1.113883.4.642.40.13.48.17"
    }
  ],
  "version" : "2.0.0",
  "name" : "NewbornCongenitalAnomaliesVS",
  "title" : "Newborn Congenital Anomalies",
  "status" : "active",
  "experimental" : false,
  "date" : "2024-10-15T14:34:26+00:00",
  "publisher" : "HL7 International / Public Health",
  "contact" : [
    {
      "name" : "HL7 International / Public Health",
      "telecom" : [
        {
          "system" : "url",
          "value" : "http://www.hl7.org/Special/committees/pher"
        }
      ]
    }
  ],
  "description" : "The valueset contains codes to represent newborn congenital anomalies. Includes 'Other' value for general utility, although #OTH is not allowed for birth submissions to NCHS.\n\nMapping to IJE codes [here](ConceptMap-NewbornCongenitalAnomaliesCM.html).",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "urn:iso:std:iso:3166",
          "code" : "US",
          "display" : "United States of America"
        }
      ]
    }
  ],
  "copyright" : "This value set includes content from SNOMED CT, which is copyright © 2002+ International Health Terminology Standards Development Organisation (IHTSDO), and distributed by agreement between IHTSDO and HL7. Implementer use of SNOMED CT is not covered by this agreement",
  "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"
          }
        ]
      },
      {
        "system" : "http://terminology.hl7.org/CodeSystem/v3-NullFlavor",
        "concept" : [
          {
            "code" : "OTH",
            "display" : "Other"
          }
        ]
      }
    ]
  }
}