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Resource ValueSet/FHIR Server from package us.nlm.vsac#0.21.0 (78 ms)

Package us.nlm.vsac
Type ValueSet
Id Id
FHIR Version R4
Source http://fhir.org/packages/us.nlm.vsac/https://vsac.nlm.nih.gov/valueset/2.16.840.1.113762.1.4.1146.2124/expansion
Url http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1146.2124
Version 20230122
Status active
Date 2023-01-22T01:03:33-05:00
Name DownSyndromeDisordersSNOMED
Title Down Syndrome (Disorders) (SNOMED)
Experimental False
Realm us
Authority hl7
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)

Resources that use this resource

No resources found


Resources that this resource uses

CodeSystem
http://snomed.info/sct SNOMED CT (all versions)
http://snomed.info/sct Nutrition Care Process Terminology module
http://snomed.info/sct veri


Source

{
  "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:12175f73-ad20-44bc-b6c4-be57fe88b7ab",
    "timestamp" : "2024-12-10T06:49:47-05:00",
    "total" : 5,
    "contains" : [
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20240901",
        "code" : "205615000",
        "display" : "Trisomy 21- meiotic nondisjunction (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20240901",
        "code" : "205616004",
        "display" : "Trisomy 21- mitotic nondisjunction mosaicism (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20240901",
        "code" : "254264002",
        "display" : "Partial trisomy 21 in Down's syndrome (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20240901",
        "code" : "371045000",
        "display" : "Translocation Down syndrome (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20240901",
        "code" : "41040004",
        "display" : "Complete trisomy 21 syndrome (disorder)"
      }
    ]
  },
  "text" : {
  }
}

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