FHIR © HL7.org  |  FHIRsmith 4.0.1  |  Server Home  |  XIG Home  |  XIG Stats  | 

FHIR IG analytics

Packageus.nlm.vsac
Resource TypeValueSet
IdValueSet-2.16.840.1.113762.1.4.1146.2627.json
FHIR VersionR4
Sourcehttps://vsac.nlm.nih.gov/valueset/2.16.840.1.113762.1.4.1146.2627/expansion
URLhttp://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1146.2627
Version20250621
Statusactive
Date2025-06-21T01:03:03-04:00
NameSpinalMuscularAtrophyDisordersSNOMED
TitleSpinal Muscular Atrophy (Disorders) (SNOMED)
Realmus
Authorityhl7
Purpose(Clinical Focus: This set of values contains diagnoses or problems that represent that the patient has Spinal Muscular Atrophy regardless of the clinical presentation of the condition.),(Data Element Scope: Diagnoses or problems documented in a clinical record.),(Inclusion Criteria: Spinal Muscular Atrophy),(Exclusion Criteria: None)

Resources that use this resource

No resources found


Resources that this resource uses

CodeSystem
sctSNOMED codes used in this IG

Narrative

No narrative content found in resource


Source1

{
  "resourceType": "ValueSet",
  "id": "2.16.840.1.113762.1.4.1146.2627",
  "meta": {
    "versionId": "6",
    "lastUpdated": "2025-06-21T01:03:03.000-04:00",
    "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": "Spinal_Muscular_Atrophy,Trigger"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/resource-lastReviewDate",
      "valueDate": "2025-06-21"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/valueset-effectiveDate",
      "valueDate": "2025-06-21"
    }
  ],
  "url": "http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1146.2627",
  "identifier": [
    {
      "system": "urn:ietf:rfc:3986",
      "value": "urn:oid:2.16.840.1.113762.1.4.1146.2627"
    }
  ],
  "version": "20250621",
  "name": "SpinalMuscularAtrophyDisordersSNOMED",
  "title": "Spinal Muscular Atrophy (Disorders) (SNOMED)",
  "status": "active",
  "date": "2025-06-21T01:03:03-04:00",
  "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 Spinal Muscular Atrophy regardless of the clinical presentation of the condition.),(Data Element Scope: Diagnoses or problems documented in a clinical record.),(Inclusion Criteria: Spinal Muscular Atrophy),(Exclusion Criteria: None)",
  "compose": {
    "include": [
      {
        "system": "http://snomed.info/sct",
        "concept": [
          {
            "code": "1172588008",
            "display": "Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)"
          },
          {
            "code": "1172689007",
            "display": "Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder)"
          },
          {
            "code": "128212001",
            "display": "Spinal muscular atrophy, type II (disorder)"
          },
          {
            "code": "230247001",
            "display": "Distal spinal muscular atrophy (disorder)"
          },
          {
            "code": "230248006",
            "display": "Scapuloperoneal spinal muscular atrophy (disorder)"
          },
          {
            "code": "230249003",
            "display": "Facioscapulohumeral spinal muscular atrophy (disorder)"
          },
          {
            "code": "230250003",
            "display": "Facioscapulohumeral spinal muscular atrophy with sensory loss (disorder)"
          },
          {
            "code": "230251004",
            "display": "Scapulohumeral spinal muscular atrophy (disorder)"
          },
          {
            "code": "230252006",
            "display": "Oculopharyngeal spinal muscular atrophy (disorder)"
          },
          {
            "code": "5262007",
            "display": "Spinal muscular atrophy (disorder)"
          },
          {
            "code": "703524005",
            "display": "Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)"
          },
          {
            "code": "711483003",
            "display": "Spinal muscular atrophy with respiratory distress type 1 (disorder)"
          },
          {
            "code": "723612001",
            "display": "Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder)"
          },
          {
            "code": "763067000",
            "display": "Autosomal dominant congenital benign spinal muscular atrophy (disorder)"
          },
          {
            "code": "766764008",
            "display": "X-linked distal spinal muscular atrophy type 3 (disorder)"
          },
          {
            "code": "770430000",
            "display": "Autosomal recessive distal spinal muscular atrophy type 3 (disorder)"
          },
          {
            "code": "770727008",
            "display": "Spinal muscular atrophy with respiratory distress type 2 (disorder)"
          },
          {
            "code": "772129007",
            "display": "Autosomal dominant childhood-onset proximal spinal muscular atrophy (disorder)"
          },
          {
            "code": "784391002",
            "display": "Autosomal dominant adult-onset proximal spinal muscular atrophy (disorder)"
          },
          {
            "code": "85505000",
            "display": "Adult spinal muscular atrophy (disorder)"
          }
        ]
      }
    ]
  },
  "expansion": {
    "identifier": "urn:uuid:b31937bb-543a-47e4-be95-29fdc0e0d7d2",
    "timestamp": "2025-11-24T13:31:43-05:00",
    "total": 20,
    "contains": [
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250901",
        "code": "1172588008",
        "display": "Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250901",
        "code": "1172689007",
        "display": "Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250901",
        "code": "128212001",
        "display": "Spinal muscular atrophy, type II (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250901",
        "code": "230247001",
        "display": "Distal spinal muscular atrophy (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250901",
        "code": "230248006",
        "display": "Scapuloperoneal spinal muscular atrophy (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250901",
        "code": "230249003",
        "display": "Facioscapulohumeral spinal muscular atrophy (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250901",
        "code": "230250003",
        "display": "Facioscapulohumeral spinal muscular atrophy with sensory loss (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250901",
        "code": "230251004",
        "display": "Scapulohumeral spinal muscular atrophy (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250901",
        "code": "230252006",
        "display": "Oculopharyngeal spinal muscular atrophy (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250901",
        "code": "5262007",
        "display": "Spinal muscular atrophy (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250901",
        "code": "703524005",
        "display": "Spinal muscular atrophy with progressive myoclonic epilepsy (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250901",
        "code": "711483003",
        "display": "Spinal muscular atrophy with respiratory distress type 1 (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250901",
        "code": "723612001",
        "display": "Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250901",
        "code": "763067000",
        "display": "Autosomal dominant congenital benign spinal muscular atrophy (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250901",
        "code": "766764008",
        "display": "X-linked distal spinal muscular atrophy type 3 (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250901",
        "code": "770430000",
        "display": "Autosomal recessive distal spinal muscular atrophy type 3 (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250901",
        "code": "770727008",
        "display": "Spinal muscular atrophy with respiratory distress type 2 (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250901",
        "code": "772129007",
        "display": "Autosomal dominant childhood-onset proximal spinal muscular atrophy (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250901",
        "code": "784391002",
        "display": "Autosomal dominant adult-onset proximal spinal muscular atrophy (disorder)"
      },
      {
        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250901",
        "code": "85505000",
        "display": "Adult spinal muscular atrophy (disorder)"
      }
    ]
  }
}