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Resource ValueSet/FHIR Server from package us.nlm.vsac#0.23.0 (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/2.16.840.1.113762.1.4.1146.2484/expansion
Url http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1146.2484
Version 20250218
Status active
Date 2025-02-18T01:09:31-05:00
Name MicrophthalmiaDisordersSNOMED
Title Microphthalmia (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 Microphthalmia regardless of the clinical presentation of the condition),(Data Element Scope: Diagnoses or problems documented in a clinical record.),(Inclusion Criteria: Microphthalmia),(Exclusion Criteria: none)

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 SNOMED codes used in this IG
http://snomed.info/sct veri

Source

{
  "resourceType" : "ValueSet",
  "id" : "2.16.840.1.113762.1.4.1146.2484",
  "meta" : {
    "versionId" : "7",
    "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" : "Microphthalmia,Trigger"
    },
    {
      "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/2.16.840.1.113762.1.4.1146.2484",
  "identifier" : [
    {
      "system" : "urn:ietf:rfc:3986",
      "value" : "urn:oid:2.16.840.1.113762.1.4.1146.2484"
    }
  ],
  "version" : "20250218",
  "name" : "MicrophthalmiaDisordersSNOMED",
  "title" : "Microphthalmia (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 Microphthalmia regardless of the clinical presentation of the condition),(Data Element Scope: Diagnoses or problems documented in a clinical record.),(Inclusion Criteria: Microphthalmia),(Exclusion Criteria: none)",
  "compose" : {
    "include" : [
      {
        "system" : "http://snomed.info/sct",
        "concept" : [
          {
            "code" : "1003369001",
            "display" : "Microphthalmos due to Delleman syndrome (disorder)"
          },
          {
            "code" : "1003370000",
            "display" : "Microphthalmos due to Fryns syndrome (disorder)"
          },
          {
            "code" : "1003372008",
            "display" : "Microphthalmos due to branchio-oculo-facial syndrome (disorder)"
          },
          {
            "code" : "1230344000",
            "display" : "Microphthalmia, microtia, fetal akinesia syndrome (disorder)"
          },
          {
            "code" : "1231626009",
            "display" : "Syndromic nanophthalmos due to Kenny-Caffey syndrome (disorder)"
          },
          {
            "code" : "1303582008",
            "display" : "Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome (disorder)"
          },
          {
            "code" : "1332382002",
            "display" : "Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)"
          },
          {
            "code" : "15987151000119103",
            "display" : "Microphthalmos of bilateral eyes (disorder)"
          },
          {
            "code" : "15987191000119108",
            "display" : "Microphthalmos of right eye (disorder)"
          },
          {
            "code" : "15987231000119104",
            "display" : "Microphthalmos of left eye (disorder)"
          },
          {
            "code" : "204108000",
            "display" : "Simple microphthalmos (disorder)"
          },
          {
            "code" : "438504004",
            "display" : "Lenz microphthalmia syndrome (disorder)"
          },
          {
            "code" : "61142002",
            "display" : "Microphthalmos (disorder)"
          },
          {
            "code" : "715533002",
            "display" : "Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)"
          },
          {
            "code" : "715771008",
            "display" : "Microphthalmos co-occurrent with congenital ocular coloboma (disorder)"
          },
          {
            "code" : "716775009",
            "display" : "Nanophthalmia (disorder)"
          },
          {
            "code" : "717222003",
            "display" : "Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)"
          },
          {
            "code" : "718761007",
            "display" : "Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)"
          },
          {
            "code" : "720010009",
            "display" : "Microphthalmia with brain atrophy syndrome (disorder)"
          },
          {
            "code" : "720511000",
            "display" : "Arrhinia with choanal atresia and microphthalmia syndrome (disorder)"
          },
          {
            "code" : "721878003",
            "display" : "Microphthalmia with brain and digit anomaly (disorder)"
          },
          {
            "code" : "721879006",
            "display" : "Microphthalmia with linear skin defect syndrome (disorder)"
          },
          {
            "code" : "723503006",
            "display" : "Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)"
          },
          {
            "code" : "762414004",
            "display" : "Microphthalmic socket (disorder)"
          },
          {
            "code" : "764942005",
            "display" : "Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)"
          },
          {
            "code" : "771148008",
            "display" : "X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)"
          },
          {
            "code" : "773282001",
            "display" : "Macrosomia, microphthalmia, cleft palate syndrome (disorder)"
          },
          {
            "code" : "773628009",
            "display" : "Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder)"
          },
          {
            "code" : "776204008",
            "display" : "Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome (disorder)"
          },
          {
            "code" : "778021002",
            "display" : "Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome (disorder)"
          },
          {
            "code" : "840492002",
            "display" : "Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder)"
          }
        ]
      }
    ]
  },
  "expansion" : {
    "identifier" : "urn:uuid:6e7d536e-3d21-473b-84c9-d826d3a46aa9",
    "timestamp" : "2025-05-23T18:47:42-04:00",
    "total" : 31,
    "contains" : [
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "1003369001",
        "display" : "Microphthalmos due to Delleman syndrome (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "1003370000",
        "display" : "Microphthalmos due to Fryns syndrome (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "1003372008",
        "display" : "Microphthalmos due to branchio-oculo-facial syndrome (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "1230344000",
        "display" : "Microphthalmia, microtia, fetal akinesia syndrome (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "1231626009",
        "display" : "Syndromic nanophthalmos due to Kenny-Caffey syndrome (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "1303582008",
        "display" : "Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "1332382002",
        "display" : "Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "15987151000119103",
        "display" : "Microphthalmos of bilateral eyes (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "15987191000119108",
        "display" : "Microphthalmos of right eye (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "15987231000119104",
        "display" : "Microphthalmos of left eye (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "204108000",
        "display" : "Simple microphthalmos (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "438504004",
        "display" : "Lenz microphthalmia syndrome (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "61142002",
        "display" : "Microphthalmos (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "715533002",
        "display" : "Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "715771008",
        "display" : "Microphthalmos co-occurrent with congenital ocular coloboma (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "716775009",
        "display" : "Nanophthalmia (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "717222003",
        "display" : "Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "718761007",
        "display" : "Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "720010009",
        "display" : "Microphthalmia with brain atrophy syndrome (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "720511000",
        "display" : "Arrhinia with choanal atresia and microphthalmia syndrome (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "721878003",
        "display" : "Microphthalmia with brain and digit anomaly (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "721879006",
        "display" : "Microphthalmia with linear skin defect syndrome (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "723503006",
        "display" : "Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "762414004",
        "display" : "Microphthalmic socket (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "764942005",
        "display" : "Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "771148008",
        "display" : "X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "773282001",
        "display" : "Macrosomia, microphthalmia, cleft palate syndrome (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "773628009",
        "display" : "Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "776204008",
        "display" : "Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "778021002",
        "display" : "Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "840492002",
        "display" : "Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder)"
      }
    ]
  },
  "text" : {
  }
}

XIG built as of ??metadata-date??. Found ??metadata-resources?? resources in ??metadata-packages?? packages.