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Source1

{
  "resourceType": "ValueSet",
  "id": "2.16.840.1.113762.1.4.1146.2124",
  "meta": {
    "versionId": "5",
    "lastUpdated": "2023-12-21T17:43:03.000-05:00",
    "profile": [
      "http://hl7.org/fhir/StructureDefinition/shareablevalueset",
      "http://hl7.org/fhir/us/cqfmeasures/StructureDefinition/computable-valueset-cqfm",
      "http://hl7.org/fhir/us/cqfmeasures/StructureDefinition/publishable-valueset-cqfm"
    ]
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/StructureDefinition/valueset-author",
      "valueContactDetail": {
        "name": "CSTE Author"
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/valueset-keyWord",
      "valueString": "Down_syndrome,Trigger"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/resource-lastReviewDate",
      "valueDate": "2024-06-05"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/valueset-effectiveDate",
      "valueDate": "2023-01-22"
    }
  ],
  "url": "http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1146.2124",
  "identifier": [
    {
      "system": "urn:ietf:rfc:3986",
      "value": "urn:oid:2.16.840.1.113762.1.4.1146.2124"
    }
  ],
  "version": "20230122",
  "name": "DownSyndromeDisordersSNOMED",
  "title": "Down Syndrome (Disorders) (SNOMED)",
  "status": "active",
  "date": "2023-01-22T01:03:33-05:00",
  "publisher": "CSTE Steward",
  "jurisdiction": [
    {
      "coding": [
        {
          "system": "urn:iso:std:iso:3166",
          "code": "US"
        }
      ]
    }
  ],
  "purpose": "(Clinical Focus: This set of values contains diagnoses or problems that represent that the patient has Down syndrome regardless of the clinical presentation of the condition),(Data Element Scope: Diagnoses or problems documented in a clinical record.),(Inclusion Criteria: Down syndrome, Mosaic Down syndrome, Translocation Down syndrome, Translocation trisomy 21),(Exclusion Criteria: Balanced translocations involving chromosome 21)",
  "compose": {
    "include": [
      {
        "system": "http://snomed.info/sct",
        "concept": [
          {
            "code": "205615000",
            "display": "Trisomy 21- meiotic nondisjunction (disorder)"
          },
          {
            "code": "205616004",
            "display": "Trisomy 21- mitotic nondisjunction mosaicism (disorder)"
          },
          {
            "code": "254264002",
            "display": "Partial trisomy 21 in Down's syndrome (disorder)"
          },
          {
            "code": "371045000",
            "display": "Translocation Down syndrome (disorder)"
          },
          {
            "code": "41040004",
            "display": "Complete trisomy 21 syndrome (disorder)"
          }
        ]
      }
    ]
  },
  "expansion": {
    "identifier": "urn:uuid:8fd9fedf-ef8e-4d06-b610-9b8122ae025e",
    "timestamp": "2025-05-23T18:37:55-04:00",
    "total": 5,
    "contains": [
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "205615000",
        "display": "Trisomy 21- meiotic nondisjunction (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "205616004",
        "display": "Trisomy 21- mitotic nondisjunction mosaicism (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "254264002",
        "display": "Partial trisomy 21 in Down's syndrome (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "371045000",
        "display": "Translocation Down syndrome (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "41040004",
        "display": "Complete trisomy 21 syndrome (disorder)"
      }
    ]
  }
}