FHIRsmith: ValueSet/ValueSet-2.16.840.1.113883.3.526.2.1673.json

FHIR IG analytics

Package	us.nlm.vsac
Resource Type	ValueSet
Id	ValueSet-2.16.840.1.113883.3.526.2.1673.json
FHIR Version	R4
Source	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
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
2.16.840.1.113883.3.526.3.1463	Hereditary Retinal Dystrophies
Resources that this resource uses

CodeSystem
sct	SNOMED codes used in this IG
Narrative

No narrative content found in resource
Source1

{
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  "meta": {
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  "extension": [
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      "valueContactDetail": {
        "name": "American Academy of Ophthalmology Author"
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      "valueDate": "2025-05-12"
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  "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": [
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  "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.')",
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            "code": "1010610007",
            "display": "Retinitis pigmentosa-deafness syndrome type 3 (disorder)"
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            "display": "Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome (disorder)"
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          {
            "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)"
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    "identifier": "urn:uuid:193e27c0-9397-425a-bafb-e77d2edcce2f",
    "timestamp": "2025-05-23T22:40:50-04:00",
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        "system": "http://snomed.info/sct",
        "version": "http://snomed.info/sct/731000124108/version/20250301",
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        "display": "Progressive cone-rod dystrophy (disorder)"
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  }
}