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Resource ValueSet/FHIR Server from package us.nlm.vsac#0.23.0 (141 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/2.16.840.1.113883.3.526.2.1673/expansion
Url http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.526.2.1673
Version 20250125
Status active
Date 2025-01-25T01:09:35-05:00
Name HereditaryRetinalDystrophies
Title Hereditary Retinal Dystrophies
Experimental False
Realm us
Authority hl7
Purpose (Clinical Focus: The purpose of this value set is to represent concepts for diagnoses of hereditary retinal dystrophies.),(Data Element Scope: This value set may use a model element related to Diagnosis.),(Inclusion Criteria: Includes concepts that represent a diagnosis of hereditary retinal or vitreoretinal dystrophies, including Usher syndrome.),(Exclusion Criteria: Excludes concepts that represent a diagnosis for 'unspecified eye.')

Resources that use this resource

ValueSet
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.526.3.1463 Hereditary Retinal Dystrophies

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" : "2.16.840.1.113883.3.526.2.1673",
  "meta" : {
    "versionId" : "38",
    "lastUpdated" : "2025-01-25T01:09:35.000-05:00",
    "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" : "American Academy of Ophthalmology Author"
      }
    },
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/resource-lastReviewDate",
      "valueDate" : "2025-05-12"
    },
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/valueset-effectiveDate",
      "valueDate" : "2025-01-25"
    }
  ],
  "url" : "http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.526.2.1673",
  "identifier" : [
    {
      "system" : "urn:ietf:rfc:3986",
      "value" : "urn:oid:2.16.840.1.113883.3.526.2.1673"
    }
  ],
  "version" : "20250125",
  "name" : "HereditaryRetinalDystrophies",
  "title" : "Hereditary Retinal Dystrophies",
  "status" : "active",
  "date" : "2025-01-25T01:09:35-05:00",
  "publisher" : "American Academy of Ophthalmology Steward",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "urn:iso:std:iso:3166",
          "code" : "US"
        }
      ]
    }
  ],
  "purpose" : "(Clinical Focus: The purpose of this value set is to represent concepts for diagnoses of hereditary retinal dystrophies.),(Data Element Scope: This value set may use a model element related to Diagnosis.),(Inclusion Criteria: Includes concepts that represent a diagnosis of hereditary retinal or vitreoretinal dystrophies, including Usher syndrome.),(Exclusion Criteria: Excludes concepts that represent a diagnosis for 'unspecified eye.')",
  "compose" : {
    "include" : [
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            "code" : "1010610007",
            "display" : "Retinitis pigmentosa-deafness syndrome type 3 (disorder)"
          },
          {
            "code" : "1172605003",
            "display" : "Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome (disorder)"
          },
          {
            "code" : "1220597000",
            "display" : "Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome (disorder)"
          },
          {
            "code" : "15059000",
            "display" : "Retinal dystrophy in systemic lipidosis (disorder)"
          },
          {
            "code" : "15699201000119104",
            "display" : "Retinitis pigmentosa of left eye (disorder)"
          },
          {
            "code" : "15699241000119102",
            "display" : "Retinitis pigmentosa of right eye (disorder)"
          },
          {
            "code" : "15699281000119107",
            "display" : "Retinitis pigmentosa of bilateral eyes (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" : "232054005",
            "display" : "X-linked retinitis pigmentosa (disorder)"
          },
          {
            "code" : "232055006",
            "display" : "X-linked retinitis pigmentosa heterozygote (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" : "237611007",
            "display" : "Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus (disorder)"
          },
          {
            "code" : "237984008",
            "display" : "Neurogenic muscle weakness, ataxia and retinitis pigmentosa (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" : "514793471000119104",
            "display" : "Usher syndrome type 1F (disorder)"
          },
          {
            "code" : "57838006",
            "display" : "Retinitis pigmentosa-deafness syndrome (disorder)"
          },
          {
            "code" : "698847000",
            "display" : "Hereditary retinal dystrophy primarily involving retinal pigment epithelium (disorder)"
          },
          {
            "code" : "698848005",
            "display" : "Hereditary retinal dystrophy primarily involving sensory retina (disorder)"
          },
          {
            "code" : "719282008",
            "display" : "Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)"
          },
          {
            "code" : "723452007",
            "display" : "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder)"
          },
          {
            "code" : "764939004",
            "display" : "Fundus albipunctatus (disorder)"
          },
          {
            "code" : "79556007",
            "display" : "Vitreoretinal dystrophy (disorder)"
          },
          {
            "code" : "80328002",
            "display" : "Progressive cone-rod dystrophy (disorder)"
          }
        ]
      }
    ]
  },
  "expansion" : {
    "identifier" : "urn:uuid:193e27c0-9397-425a-bafb-e77d2edcce2f",
    "timestamp" : "2025-05-23T22:40:50-04:00",
    "total" : 34,
    "contains" : [
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        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "1010610007",
        "display" : "Retinitis pigmentosa-deafness syndrome type 3 (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "1172605003",
        "display" : "Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
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        "display" : "Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome (disorder)"
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      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "15059000",
        "display" : "Retinal dystrophy in systemic lipidosis (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "15699201000119104",
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      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "15699241000119102",
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      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
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        "system" : "http://snomed.info/sct",
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        "display" : "Retinal dystrophy in cerebroretinal lipidosis (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "193400007",
        "display" : "Hereditary retinal dystrophies in lipidoses (disorder)"
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      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "193409008",
        "display" : "Hyaline retinal dystrophy (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "193415008",
        "display" : "Tapetoretinal dystrophy (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "232052009",
        "display" : "Autosomal dominant retinitis pigmentosa (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "232053004",
        "display" : "Autosomal recessive retinitis pigmentosa (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "232054005",
        "display" : "X-linked retinitis pigmentosa (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "232055006",
        "display" : "X-linked retinitis pigmentosa heterozygote (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "232056007",
        "display" : "Progressive rod dystrophy (disorder)"
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      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "232057003",
        "display" : "Usher syndrome type 1 (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
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      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "237611007",
        "display" : "Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "237984008",
        "display" : "Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "267613004",
        "display" : "Progressive cone dystrophy (without rod involvement) (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "28835009",
        "display" : "Retinitis pigmentosa (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "312917007",
        "display" : "Cone dystrophy (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "313003009",
        "display" : "Rod dystrophy (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "41799005",
        "display" : "Hereditary retinal dystrophy (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "514793471000119104",
        "display" : "Usher syndrome type 1F (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "57838006",
        "display" : "Retinitis pigmentosa-deafness syndrome (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "698847000",
        "display" : "Hereditary retinal dystrophy primarily involving retinal pigment epithelium (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "698848005",
        "display" : "Hereditary retinal dystrophy primarily involving sensory retina (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "719282008",
        "display" : "Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "723452007",
        "display" : "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "764939004",
        "display" : "Fundus albipunctatus (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "79556007",
        "display" : "Vitreoretinal dystrophy (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20250301",
        "code" : "80328002",
        "display" : "Progressive cone-rod dystrophy (disorder)"
      }
    ]
  },
  "text" : {
  }
}

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