Mobile Antepartum Summary
1.0.0-comment - ballot International flag

This page is part of the Mobile Antepartum Summary (v1.0.0-comment: Publication Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

: Antepartum Family History and Genetic Screening - JSON Representation

Active as of 2024-06-04

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{
  "resourceType" : "ValueSet",
  "id" : "Antepartum.Family.History.and.Genetic.Screening.VS",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><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/408856003\">408856003</a></td><td>Autism</td></tr><tr><td><a href=\"http://snomed.info/id/414022008\">414022008</a></td><td>Blood Disorders</td></tr><tr><td><a href=\"http://snomed.info/id/80544005\">80544005</a></td><td>Canavan Disease</td></tr><tr><td><a href=\"http://snomed.info/id/409709004\">409709004</a></td><td>Chromosomal Disorder Includes any inherited genetic or chromosomal disorders</td></tr><tr><td><a href=\"http://snomed.info/id/13213009\">13213009</a></td><td>Congenital Heart Defect</td></tr><tr><td><a href=\"http://snomed.info/id/190905008\">190905008</a></td><td>Cystic Fibrosis</td></tr><tr><td><a href=\"http://snomed.info/id/276720006\">276720006</a></td><td>Dysmorphism (Birth Defect) Patient or baby's father has a child with birth defects</td></tr><tr><td><a href=\"http://snomed.info/id/41040004\">41040004</a></td><td>Down Syndrome</td></tr><tr><td><a href=\"http://snomed.info/id/29159009\">29159009</a></td><td>Familial Dysautonomia</td></tr><tr><td><a href=\"http://snomed.info/id/90935002\">90935002</a></td><td>Hemophilia</td></tr><tr><td><a href=\"http://snomed.info/id/58756001\">58756001</a></td><td>Huntington's Chorea</td></tr><tr><td><a href=\"http://snomed.info/id/75934005\">75934005</a></td><td>Maternal Metabolic Disorder</td></tr><tr><td><a href=\"http://snomed.info/id/91138005\">91138005</a></td><td>Mental Retardation</td></tr><tr><td><a href=\"http://snomed.info/id/73297009\">73297009</a></td><td>Muscular Dystrophy</td></tr><tr><td><a href=\"http://snomed.info/id/253098009\">253098009</a></td><td>Neural Tube Defect</td></tr><tr><td><a href=\"http://snomed.info/id/102878001\">102878001</a></td><td>Recurrent pregnancy loss/stillbirth</td></tr><tr><td><a href=\"http://snomed.info/id/417357006\">417357006</a></td><td>Sickle Cell Disease</td></tr><tr><td><a href=\"http://snomed.info/id/16402000\">16402000</a></td><td>Sickle Cell Trait</td></tr><tr><td><a href=\"http://snomed.info/id/111385000\">111385000</a></td><td>Tay-Sachs</td></tr><tr><td><a href=\"http://snomed.info/id/40108008\">40108008</a></td><td>Thalassemia</td></tr></table></li></ul></div>"
  },
  "url" : "https://profiles.ihe.net/PCC/mAPS/ValueSet/Antepartum.Family.History.and.Genetic.Screening.VS",
  "version" : "1.0.0-comment",
  "name" : "Antepartum_Family_History_and_Genetic_Screening_VS",
  "title" : "Antepartum Family History and Genetic Screening",
  "status" : "active",
  "experimental" : false,
  "date" : "2024-06-04T15:28:59-05:00",
  "publisher" : "IHE Patient Care Coordination Committee",
  "contact" : [
    {
      "telecom" : [
        {
          "system" : "url",
          "value" : "https://www.ihe.net/ihe_domains/patient_care_coordination/"
        }
      ]
    },
    {
      "telecom" : [
        {
          "system" : "email",
          "value" : "pcc@ihe.net"
        }
      ]
    },
    {
      "name" : "IHE Patient Care Coordination Committee",
      "telecom" : [
        {
          "system" : "email",
          "value" : "pcc@ihe.net"
        }
      ]
    }
  ],
  "description" : "This value set includes the type of genetic-related risks identified through screening of the patient’s and biological father’s family history.",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code" : "001"
        }
      ]
    }
  ],
  "compose" : {
    "include" : [
      {
        "system" : "http://snomed.info/sct",
        "concept" : [
          {
            "code" : "408856003",
            "display" : "Autism"
          },
          {
            "code" : "414022008",
            "display" : "Blood Disorders"
          },
          {
            "code" : "80544005",
            "display" : "Canavan Disease"
          },
          {
            "code" : "409709004",
            "display" : "Chromosomal Disorder Includes any inherited genetic or chromosomal disorders"
          },
          {
            "code" : "13213009",
            "display" : "Congenital Heart Defect"
          },
          {
            "code" : "190905008",
            "display" : "Cystic Fibrosis"
          },
          {
            "code" : "276720006",
            "display" : "Dysmorphism (Birth Defect) Patient or baby's father has a child with birth defects"
          },
          {
            "code" : "41040004",
            "display" : "Down Syndrome"
          },
          {
            "code" : "29159009",
            "display" : "Familial Dysautonomia"
          },
          {
            "code" : "90935002",
            "display" : "Hemophilia"
          },
          {
            "code" : "58756001",
            "display" : "Huntington's Chorea"
          },
          {
            "code" : "75934005",
            "display" : "Maternal Metabolic Disorder"
          },
          {
            "code" : "91138005",
            "display" : "Mental Retardation"
          },
          {
            "code" : "73297009",
            "display" : "Muscular Dystrophy"
          },
          {
            "code" : "253098009",
            "display" : "Neural Tube Defect"
          },
          {
            "code" : "102878001",
            "display" : "Recurrent pregnancy loss/stillbirth"
          },
          {
            "code" : "417357006",
            "display" : "Sickle Cell Disease"
          },
          {
            "code" : "16402000",
            "display" : "Sickle Cell Trait"
          },
          {
            "code" : "111385000",
            "display" : "Tay-Sachs"
          },
          {
            "code" : "40108008",
            "display" : "Thalassemia"
          }
        ]
      }
    ]
  }
}