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Source1

{
  "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)"
      }
    ]
  }
}