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FHIR IG Statistics: ValueSet/2.16.840.1.113762.1.4.1146.2502

Packageus.nlm.vsac
Resource TypeValueSet
Id2.16.840.1.113762.1.4.1146.2502
FHIR VersionR4
Sourcehttp://fhir.org/packages/us.nlm.vsac/https://vsac.nlm.nih.gov/valueset/2.16.840.1.113762.1.4.1146.2502/expansion
URLhttp://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1146.2502
Version20250218
Statusactive
Date2025-02-18T01:09:31-05:00
NameTrisomy13DisordersSNOMED
TitleTrisomy 13 (Disorders) (SNOMED)
Realmus
Authorityhl7
Purpose(Clinical Focus: This set of values contains diagnoses or problems that represent that the patient has Trisomy 13 regardless of the clinical presentation of the condition),(Data Element Scope: Diagnoses or problems documented in a clinical record.),(Inclusion Criteria: Trisomy 13),(Exclusion Criteria: none)

Resources that use this resource

No resources found

Resources that this resource uses

CodeSystem
sctSNOMED CT (all versions)

Narrative

No narrative content found in resource

Source

{
  "resourceType": "ValueSet",
  "id": "2.16.840.1.113762.1.4.1146.2502",
  "meta": {
    "versionId": "6",
    "lastUpdated": "2025-02-18T01:09:30.000-05:00",
    "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": "Trigger,Trisomy13"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/resource-lastReviewDate",
      "valueDate": "2025-02-18"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/valueset-effectiveDate",
      "valueDate": "2025-02-18"
    }
  ],
  "url": "http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1146.2502",
  "identifier": [
    {
      "system": "urn:ietf:rfc:3986",
      "value": "urn:oid:2.16.840.1.113762.1.4.1146.2502"
    }
  ],
  "version": "20250218",
  "name": "Trisomy13DisordersSNOMED",
  "title": "Trisomy 13 (Disorders) (SNOMED)",
  "status": "active",
  "date": "2025-02-18T01:09:31-05:00",
  "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 Trisomy 13 regardless of the clinical presentation of the condition),(Data Element Scope: Diagnoses or problems documented in a clinical record.),(Inclusion Criteria: Trisomy 13),(Exclusion Criteria: none)",
  "compose": {
    "include": [
      {
        "system": "http://snomed.info/sct",
        "concept": [
          {
            "code": "1003416001",
            "display": "Medial duplication of chromosome 13 (disorder)"
          },
          {
            "code": "1003909007",
            "display": "Proximal duplication of chromosome 13 (disorder)"
          },
          {
            "code": "10572007",
            "display": "13q partial trisomy syndrome (disorder)"
          },
          {
            "code": "125521000119101",
            "display": "Fetus with complete trisomy 13 syndrome (disorder)"
          },
          {
            "code": "205619006",
            "display": "Trisomy 13, meiotic nondisjunction (disorder)"
          },
          {
            "code": "205620000",
            "display": "Trisomy 13 - mitotic nondisjunction mosaicism (disorder)"
          },
          {
            "code": "21111006",
            "display": "Complete trisomy 13 syndrome (disorder)"
          },
          {
            "code": "254268004",
            "display": "Partial trisomy 13 in Patau's syndrome (disorder)"
          },
          {
            "code": "403756008",
            "display": "Aplasia cutis in Trisomy 13 syndrome (disorder)"
          },
          {
            "code": "548004",
            "display": "13p partial trisomy syndrome (disorder)"
          },
          {
            "code": "726352003",
            "display": "Partial trisomy of chromosome 13 (disorder)"
          },
          {
            "code": "737540008",
            "display": "Trisomy 13 (morphologic abnormality)"
          },
          {
            "code": "764454003",
            "display": "Distal trisomy 13q (disorder)"
          },
          {
            "code": "764996009",
            "display": "Non-distal trisomy 13q (disorder)"
          },
          {
            "code": "897549008",
            "display": "Distal duplication of chromosome 13 (disorder)"
          }
        ]
      }
    ]
  },
  "expansion": {
    "identifier": "urn:uuid:69354d02-c4a5-4dee-837b-4bb2fb531205",
    "timestamp": "2025-05-23T18:48:11-04:00",
    "total": 15,
    "contains": [
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "1003416001",
        "display": "Medial duplication of chromosome 13 (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "1003909007",
        "display": "Proximal duplication of chromosome 13 (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "10572007",
        "display": "13q partial trisomy syndrome (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "125521000119101",
        "display": "Fetus with complete trisomy 13 syndrome (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "205619006",
        "display": "Trisomy 13, meiotic nondisjunction (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "205620000",
        "display": "Trisomy 13 - mitotic nondisjunction mosaicism (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "21111006",
        "display": "Complete trisomy 13 syndrome (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "254268004",
        "display": "Partial trisomy 13 in Patau's syndrome (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "403756008",
        "display": "Aplasia cutis in Trisomy 13 syndrome (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "548004",
        "display": "13p partial trisomy syndrome (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "726352003",
        "display": "Partial trisomy of chromosome 13 (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "737540008",
        "display": "Trisomy 13 (morphologic abnormality)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "764454003",
        "display": "Distal trisomy 13q (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "764996009",
        "display": "Non-distal trisomy 13q (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
        "code": "897549008",
        "display": "Distal duplication of chromosome 13 (disorder)"
      }
    ]
  }
}