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Resource ValueSet/FHIR Server from package us.nlm.vsac#0.21.0 (109 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/2.16.840.1.113762.1.4.1146.2150/expansion
Url http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1146.2150
Version 20240123
Status active
Date 2024-01-23T01:10:32-05:00
Name CongenitalHearingLossDisordersSNOMED
Title Congenital Hearing Loss (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 Congenital Hearing Loss regardless of the clinical presentation of the condition),(Data Element Scope: Diagnoses or problems documented in a clinical record.),(Inclusion Criteria: congenital hearing loss),(Exclusion Criteria: )

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 Nutrition Care Process Terminology module
http://snomed.info/sct veri


Source

{
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  "meta" : {
    "versionId" : "11",
    "lastUpdated" : "2024-01-23T01:10:32.000-05:00",
    "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" : "Infant_Hearing_Loss,Trigger"
    },
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/resource-lastReviewDate",
      "valueDate" : "2024-01-23"
    },
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/valueset-effectiveDate",
      "valueDate" : "2024-01-23"
    }
  ],
  "url" : "http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1146.2150",
  "identifier" : [
    {
      "system" : "urn:ietf:rfc:3986",
      "value" : "urn:oid:2.16.840.1.113762.1.4.1146.2150"
    }
  ],
  "version" : "20240123",
  "name" : "CongenitalHearingLossDisordersSNOMED",
  "title" : "Congenital Hearing Loss (Disorders) (SNOMED)",
  "status" : "active",
  "date" : "2024-01-23T01:10:32-05:00",
  "publisher" : "CSTE Steward",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "urn:iso:std:iso:3166",
          "code" : "US"
        }
      ]
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  ],
  "purpose" : "(Clinical Focus: This set of values contains diagnoses or problems that represent that the patient has Congenital Hearing Loss regardless of the clinical presentation of the condition),(Data Element Scope: Diagnoses or problems documented in a clinical record.),(Inclusion Criteria: congenital hearing loss),(Exclusion Criteria: )",
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          {
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          {
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          {
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            "display" : "Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder)"
          },
          {
            "code" : "1208614008",
            "display" : "Autosomal dominant deafness with onychodystrophy syndrome (disorder)"
          },
          {
            "code" : "1228871002",
            "display" : "Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder)"
          },
          {
            "code" : "1230014007",
            "display" : "Duane retraction syndrome with congenital deafness (disorder)"
          },
          {
            "code" : "1271009",
            "display" : "Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)"
          },
          {
            "code" : "15984431000119109",
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          },
          {
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          },
          {
            "code" : "15984511000119103",
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          },
          {
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          {
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          {
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          },
          {
            "code" : "186570004",
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          },
          {
            "code" : "232057003",
            "display" : "Usher syndrome type 1 (disorder)"
          },
          {
            "code" : "232058008",
            "display" : "Usher syndrome type 2 (disorder)"
          },
          {
            "code" : "232335002",
            "display" : "Earpit syndrome (disorder)"
          },
          {
            "code" : "236529001",
            "display" : "Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder)"
          },
          {
            "code" : "237617006",
            "display" : "Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness (disorder)"
          },
          {
            "code" : "238047006",
            "display" : "Beta-D-mannosidosis (disorder)"
          },
          {
            "code" : "239010003",
            "display" : "Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia (disorder)"
          },
          {
            "code" : "239059004",
            "display" : "Keratitis ichthyosis and deafness syndrome (disorder)"
          },
          {
            "code" : "24559001",
            "display" : "Mutilating keratoderma (disorder)"
          },
          {
            "code" : "2625009",
            "display" : "Senter syndrome (disorder)"
          },
          {
            "code" : "290006",
            "display" : "Melnick-Fraser syndrome (disorder)"
          },
          {
            "code" : "373905003",
            "display" : "Jervell and Lange-Nielsen syndrome (disorder)"
          },
          {
            "code" : "403780007",
            "display" : "Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder)"
          },
          {
            "code" : "403805009",
            "display" : "Albinism-deafness syndrome of Tietz (disorder)"
          },
          {
            "code" : "47434006",
            "display" : "Waardenburg syndrome (disorder)"
          },
          {
            "code" : "54036001",
            "display" : "Oto-palato-digital syndrome, type I (disorder)"
          },
          {
            "code" : "57838006",
            "display" : "Retinitis pigmentosa-deafness syndrome (disorder)"
          },
          {
            "code" : "67817003",
            "display" : "Pili torti-deafness syndrome (disorder)"
          },
          {
            "code" : "698615007",
            "display" : "Congenital deaf mutism (disorder)"
          },
          {
            "code" : "699238006",
            "display" : "Congenital prelingual deafness (disorder)"
          },
          {
            "code" : "699316006",
            "display" : "Myhre syndrome (disorder)"
          },
          {
            "code" : "700112007",
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          },
          {
            "code" : "700453005",
            "display" : "Congenital sensorineural hearing loss (disorder)"
          },
          {
            "code" : "702360007",
            "display" : "Congenital deafness with labyrinthine aplasia, microtia and microdontia (disorder)"
          },
          {
            "code" : "702362004",
            "display" : "Craniofacial deafness hand syndrome (disorder)"
          },
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            "code" : "70348004",
            "display" : "Pendred's syndrome (disorder)"
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          {
            "code" : "711409002",
            "display" : "3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)"
          },
          {
            "code" : "715506001",
            "display" : "Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)"
          },
          {
            "code" : "715527006",
            "display" : "Deafness and oligodontia syndrome (disorder)"
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          {
            "code" : "715529009",
            "display" : "Progressive deafness with stapes fixation (disorder)"
          },
          {
            "code" : "715952000",
            "display" : "Waardenburg Shah syndrome (disorder)"
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          {
            "code" : "716007007",
            "display" : "Cleft palate and cleft lip with deafness and sacral lipoma syndrome (disorder)"
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          {
            "code" : "716238003",
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          {
            "code" : "716243005",
            "display" : "Deafness with malformation of ear and facial palsy syndrome (disorder)"
          },
          {
            "code" : "716245003",
            "display" : "Deafness craniofacial syndrome (disorder)"
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            "code" : "717183001",
            "display" : "Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder)"
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            "code" : "717761005",
            "display" : "Choroideremia with deafness and obesity syndrome (disorder)"
          },
          {
            "code" : "717791000",
            "display" : "Bartter syndrome type 4a (disorder)"
          },
          {
            "code" : "717909004",
            "display" : "Bilateral microtia with deafness and cleft palate syndrome (disorder)"
          },
          {
            "code" : "717944002",
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            "code" : "718574003",
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          {
            "code" : "718714006",
            "display" : "Deafness and hypogonadism syndrome (disorder)"
          },
          {
            "code" : "719305006",
            "display" : "Stapes ankylosis with broad thumb and toe syndrome (disorder)"
          },
          {
            "code" : "719689005",
            "display" : "Multiple epiphyseal dysplasia Beighton type (disorder)"
          },
          {
            "code" : "719800009",
            "display" : "Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder)"
          },
          {
            "code" : "720567008",
            "display" : "Bosley Salih Alorainy syndrome (disorder)"
          },
          {
            "code" : "720612000",
            "display" : "Cardiospondylocarpofacial syndrome (disorder)"
          },
          {
            "code" : "720957007",
            "display" : "Deafness with skeletal dysplasia and lip granuloma syndrome (disorder)"
          },
          {
            "code" : "721087008",
            "display" : "Deafness and intellectual disability Martin Probst type syndrome (disorder)"
          },
          {
            "code" : "721221000",
            "display" : "Hirschsprung disease with deafness and polydactyly syndrome (disorder)"
          },
          {
            "code" : "721584005",
            "display" : "Johnson neuroectodermal syndrome (disorder)"
          },
          {
            "code" : "722019000",
            "display" : "Oculootoradial syndrome (disorder)"
          },
          {
            "code" : "722213009",
            "display" : "Severe X-linked intellectual disability Gustavson type (disorder)"
          },
          {
            "code" : "722285005",
            "display" : "Albinism with deafness syndrome (disorder)"
          },
          {
            "code" : "722378009",
            "display" : "Congenital cataract with deafness and hypogonadism syndrome (disorder)"
          },
          {
            "code" : "722389002",
            "display" : "Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)"
          },
          {
            "code" : "722476007",
            "display" : "Thickened earlobe with conductive deafness syndrome (disorder)"
          },
          {
            "code" : "725137007",
            "display" : "Neutropenia, monocytopenia, deafness syndrome (disorder)"
          },
          {
            "code" : "726621009",
            "display" : "Caudal appendage deafness syndrome (disorder)"
          },
          {
            "code" : "73119000",
            "display" : "Retinitis pigmentosa-deafness-ataxia syndrome (disorder)"
          },
          {
            "code" : "732248005",
            "display" : "Coxoauricular syndrome (disorder)"
          },
          {
            "code" : "733065003",
            "display" : "Myoclonus, cerebellar ataxia, deafness syndrome (disorder)"
          },
          {
            "code" : "733069009",
            "display" : "Deafness, vitiligo, achalasia syndrome (disorder)"
          },
          {
            "code" : "733071009",
            "display" : "Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)"
          },
          {
            "code" : "733089005",
            "display" : "Spastic paraplegia, nephritis, deafness syndrome (disorder)"
          },
          {
            "code" : "733419006",
            "display" : "Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)"
          },
          {
            "code" : "734022008",
            "display" : "Wolfram-like syndrome (disorder)"
          },
          {
            "code" : "737344003",
            "display" : "Congenital conductive hearing loss (disorder)"
          },
          {
            "code" : "737377004",
            "display" : "Congenital mixed conductive and sensorineural hearing loss (disorder)"
          },
          {
            "code" : "763136000",
            "display" : "Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome (disorder)"
          },
          {
            "code" : "763279007",
            "display" : "Facial dysmorphism, conductive hearing loss, heart defect syndrome (disorder)"
          },
          {
            "code" : "763688008",
            "display" : "Deafness, encephaloneuropathy, obesity, valvulopathy syndrome (disorder)"
          },
          {
            "code" : "763774001",
            "display" : "Keipert syndrome (disorder)"
          },
          {
            "code" : "764098007",
            "display" : "Prelingual non-syndromic genetic deafness (disorder)"
          },
          {
            "code" : "764810000",
            "display" : "Branchiootic syndrome (disorder)"
          },
          {
            "code" : "765325002",
            "display" : "Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)"
          },
          {
            "code" : "766249007",
            "display" : "Deafness, nephritis, anorectal malformation syndrome (disorder)"
          },
          {
            "code" : "766870005",
            "display" : "Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)"
          },
          {
            "code" : "770751003",
            "display" : "Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)"
          },
          {
            "code" : "770784003",
            "display" : "Sinoatrial node dysfunction and deafness (disorder)"
          },
          {
            "code" : "770944002",
            "display" : "Oculootodental syndrome (disorder)"
          },
          {
            "code" : "773398005",
            "display" : "Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome (disorder)"
          },
          {
            "code" : "773406003",
            "display" : "Mandibular hypoplasia, deafness, progeroid syndrome (disorder)"
          },
          {
            "code" : "773575001",
            "display" : "Ocular albinism with congenital sensorineural deafness (disorder)"
          },
          {
            "code" : "773583007",
            "display" : "Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)"
          },
          {
            "code" : "773648002",
            "display" : "Congenital cataract, hearing loss, severe developmental delay syndrome (disorder)"
          },
          {
            "code" : "773665006",
            "display" : "Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder)"
          },
          {
            "code" : "773667003",
            "display" : "Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)"
          },
          {
            "code" : "773735007",
            "display" : "Deafness with onychodystrophy syndrome (disorder)"
          },
          {
            "code" : "777998000",
            "display" : "Temtamy preaxial brachydactyly syndrome (disorder)"
          },
          {
            "code" : "778006008",
            "display" : "Autosomal dominant aplasia and myelodysplasia (disorder)"
          },
          {
            "code" : "782942003",
            "display" : "Renal caliceal diverticuli and deafness syndrome (disorder)"
          },
          {
            "code" : "783097004",
            "display" : "Stickler syndrome type 3 (disorder)"
          },
          {
            "code" : "783742004",
            "display" : "Conductive hearing loss, malformation of external ear syndrome (disorder)"
          },
          {
            "code" : "79665007",
            "display" : "Wildervanck syndrome (disorder)"
          },
          {
            "code" : "93466004",
            "display" : "Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder)"
          },
          {
            "code" : "95827002",
            "display" : "Congenital hearing disorder (disorder)"
          },
          {
            "code" : "95828007",
            "display" : "Congenital deafness (disorder)"
          }
        ]
      }
    ]
  },
  "expansion" : {
    "identifier" : "urn:uuid:1c37f98b-c626-489d-a890-fc456d6c0297",
    "timestamp" : "2024-12-10T06:50:55-05:00",
    "total" : 116,
    "contains" : [
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        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20240901",
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        "display" : "Waardenburg syndrome type 1 (disorder)"
      },
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        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20240901",
        "code" : "1010610007",
        "display" : "Retinitis pigmentosa-deafness syndrome type 3 (disorder)"
      },
      {
        "system" : "http://snomed.info/sct",
        "version" : "http://snomed.info/sct/731000124108/version/20240901",
        "code" : "1010636000",
        "display" : "Waardenburg syndrome type 2 (disorder)"
      },
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      {
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        "display" : "Congenital anomaly of ear with impairment of hearing (disorder)"
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XIG built as of ??metadata-date??. Found ??metadata-resources?? resources in ??metadata-packages?? packages.