{
  "description": "(Clinical Focus: This value set contains concepts that represent a diagnosis of hereditary retinal dystrophies.),(Data Element Scope: This value set may use the Quality Data Model (QDM) category related to Diagnosis.),(Inclusion Criteria: Includes only relevant concepts associated with a diagnosis of hereditary retinal or vitreoretinal dystrophies, including Usher syndrome.),(Exclusion Criteria: Excludes concepts that pertain to 'unspecified eye.')",
  "compose": {
    "include": [ {
      "system": "http://snomed.info/sct",
      "concept": [ {
        "code": "15059000",
        "display": "Retinal dystrophy in systemic lipidosis (disorder)"
      }, {
        "code": "192788009",
        "display": "Retinal dystrophy in cerebroretinal lipidosis (disorder)"
      }, {
        "code": "193400007",
        "display": "Hereditary retinal dystrophies in lipidoses (disorder)"
      }, {
        "code": "193409008",
        "display": "Hyaline retinal dystrophy (disorder)"
      }, {
        "code": "193415008",
        "display": "Tapetoretinal dystrophy (disorder)"
      }, {
        "code": "232052009",
        "display": "Autosomal dominant retinitis pigmentosa (disorder)"
      }, {
        "code": "232053004",
        "display": "Autosomal recessive retinitis pigmentosa (disorder)"
      }, {
        "code": "232056007",
        "display": "Progressive rod dystrophy (disorder)"
      }, {
        "code": "232057003",
        "display": "Usher syndrome type 1 (disorder)"
      }, {
        "code": "232058008",
        "display": "Usher syndrome type 2 (disorder)"
      }, {
        "code": "267613004",
        "display": "Progressive cone dystrophy (without rod involvement) (disorder)"
      }, {
        "code": "28835009",
        "display": "Retinitis pigmentosa (disorder)"
      }, {
        "code": "312917007",
        "display": "Cone dystrophy (disorder)"
      }, {
        "code": "313003009",
        "display": "Rod dystrophy (disorder)"
      }, {
        "code": "41799005",
        "display": "Hereditary retinal dystrophy (disorder)"
      }, {
        "code": "57838006",
        "display": "Retinitis pigmentosa-deafness syndrome (disorder)"
      }, {
        "code": "764939004",
        "display": "Fundus albipunctatus (disorder)"
      }, {
        "code": "79556007",
        "display": "Vitreoretinal dystrophy (disorder)"
      }, {
        "code": "80328002",
        "display": "Progressive cone-rod dystrophy (disorder)"
      } ],
      "version": "http://snomed.info/sct/731000124108/version/2019-09"
    }, {
      "system": "http://hl7.org/fhir/sid/icd-10-cm",
      "concept": [ {
        "code": "H35.50",
        "display": "Unspecified hereditary retinal dystrophy"
      }, {
        "code": "H35.51",
        "display": "Vitreoretinal dystrophy"
      }, {
        "code": "H35.52",
        "display": "Pigmentary retinal dystrophy"
      }, {
        "code": "H35.53",
        "display": "Other dystrophies primarily involving the sensory retina"
      }, {
        "code": "H35.54",
        "display": "Dystrophies primarily involving the retinal pigment epithelium"
      }, {
        "code": "H36",
        "display": "Retinal disorders in diseases classified elsewhere"
      } ],
      "version": "2020"
    } ]
  },
  "_filename": "ValueSet-2.16.840.1.113883.3.526.3.1463.json",
  "package_name": "us.nlm.vsac",
  "date": "2020-03-07",
  "meta": {
    "source": "https://vsac.nlm.nih.gov/valueset/2.16.840.1.113883.3.526.3.1463/expansion"
  },
  "publisher": null,
  "name": "HereditaryRetinalDystrophies",
  "type": null,
  "experimental": null,
  "resourceType": "ValueSet",
  "title": "Hereditary Retinal Dystrophies",
  "package_version": "0.1.0",
  "status": "active",
  "id": "af600bee-a630-4bf3-96b4-c6184168083a",
  "kind": null,
  "url": "http://vsac.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.526.3.1463",
  "version": "eCQM Update 2020-05-07"
}