FHIR IG analytics| Package | us.nlm.vsac |
| Resource Type | ValueSet |
| Id | ValueSet-2.16.840.1.113762.1.4.1146.2150.json |
| FHIR Version | R4 |
| Source | 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 | 20250219 |
| Status | active |
| Date | 2025-02-19T01:09:45-05:00 |
| Name | CongenitalHearingLossDisordersSNOMED |
| Title | Congenital Hearing Loss (Disorders) (SNOMED) |
| 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: ) |
No resources found
| CodeSystem | |
| sct | SNOMED codes used in this IG |
No narrative content found in resource
FHIR
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"name": "CongenitalHearingLossDisordersSNOMED",
"title": "Congenital Hearing Loss (Disorders) (SNOMED)",
"status": "active",
"date": "2025-02-19T01:09:45-05:00",
"publisher": "CSTE Steward",
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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: )",
"compose": {
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"code": "1010606009",
"display": "Waardenburg syndrome type 1 (disorder)"
},
{
"code": "1010610007",
"display": "Retinitis pigmentosa-deafness syndrome type 3 (disorder)"
},
{
"code": "1010636000",
"display": "Waardenburg syndrome type 2 (disorder)"
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{
"code": "1010638004",
"display": "Waardenburg syndrome type 3 (disorder)"
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{
"code": "10170007",
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{
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"display": "Congenital anomaly of ear with impairment of hearing (disorder)"
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{
"code": "1142112002",
"display": "Sensorineural deafness due to late congenital syphilis (disorder)"
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{
"code": "1167372000",
"display": "X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder)"
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{
"code": "1172635005",
"display": "Split-foot malformation, mesoaxial polydactyly syndrome (disorder)"
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{
"code": "1187039001",
"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",
"display": "Impairment of hearing of right ear co-occurrent and due to congenital ear malformation (disorder)"
},
{
"code": "15984471000119107",
"display": "Impairment of hearing of left ear co-occurrent and due to congenital ear malformation (disorder)"
},
{
"code": "15984511000119103",
"display": "Impairment of hearing of bilateral ears co-occurrent and due to congenital ear malformation (disorder)"
},
{
"code": "15984551000119102",
"display": "Impairment of hearing of right ear co-occurrent and due to congenital external ear malformation (disorder)"
},
{
"code": "15984591000119107",
"display": "Impairment of hearing of left ear co-occurrent and due to congenital external ear malformation (disorder)"
},
{
"code": "15984631000119107",
"display": "Impairment of hearing of bilateral ears co-occurrent and due to congenital external ear malformation (disorder)"
},
{
"code": "186570004",
"display": "Rubella deafness (disorder)"
},
{
"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)"
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{
"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",
"display": "Bartter syndrome type 4 (disorder)"
},
{
"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)"
},
{
"code": "70348004",
"display": "Pendred's syndrome (disorder)"
},
{
"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)"
},
{
"code": "715529009",
"display": "Progressive deafness with stapes fixation (disorder)"
},
{
"code": "715952000",
"display": "Waardenburg Shah syndrome (disorder)"
},
{
"code": "716007007",
"display": "Cleft palate and cleft lip with deafness and sacral lipoma syndrome (disorder)"
},
{
"code": "716238003",
"display": "Deafness with epiphyseal dysplasia and short stature syndrome (disorder)"
},
{
"code": "716243005",
"display": "Deafness with malformation of ear and facial palsy syndrome (disorder)"
},
{
"code": "716245003",
"display": "Deafness craniofacial syndrome (disorder)"
},
{
"code": "717183001",
"display": "Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder)"
},
{
"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",
"display": "Branchiogenic deafness syndrome (disorder)"
},
{
"code": "718574003",
"display": "Cleft palate with coloboma of eye and deafness syndrome (disorder)"
},
{
"code": "718714006",
"display": "Deafness and hypogonadism syndrome (disorder)"
},
{
"code": "719102004",
"display": "Congenital cataract with ataxia and deafness 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": "720749004",
"display": "Congenital hereditary endothelial dystrophy and perceptive deafness 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)"
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{
"code": "721221000",
"display": "Hirschsprung disease with deafness and polydactyly syndrome (disorder)"
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{
"code": "721584005",
"display": "Johnson neuroectodermal syndrome (disorder)"
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{
"code": "722019000",
"display": "Oculootoradial syndrome (disorder)"
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{
"code": "722213009",
"display": "Severe X-linked intellectual disability Gustavson type (disorder)"
},
{
"code": "722285005",
"display": "Albinism with deafness syndrome (disorder)"
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{
"code": "722378009",
"display": "Congenital cataract with deafness and hypogonadism syndrome (disorder)"
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{
"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:311986f0-8cc2-4ec9-87ce-c956fcc5b3b4",
"timestamp": "2025-05-23T18:38:38-04:00",
"total": 119,
"contains": [
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"code": "15984591000119107",
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{
"system": "http://snomed.info/sct",
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"code": "15984631000119107",
"display": "Impairment of hearing of bilateral ears co-occurrent and due to congenital external ear malformation (disorder)"
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{
"system": "http://snomed.info/sct",
"version": "http://snomed.info/sct/731000124108/version/20250301",
"code": "186570004",
"display": "Rubella deafness (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)"
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{
"system": "http://snomed.info/sct",
"version": "http://snomed.info/sct/731000124108/version/20250301",
"code": "232058008",
"display": "Usher syndrome type 2 (disorder)"
},
{
"system": "http://snomed.info/sct",
"version": "http://snomed.info/sct/731000124108/version/20250301",
"code": "232335002",
"display": "Ear pit syndrome (disorder)"
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{
"system": "http://snomed.info/sct",
"version": "http://snomed.info/sct/731000124108/version/20250301",
"code": "236529001",
"display": "Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder)"
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"code": "237617006",
"display": "Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness (disorder)"
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{
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"version": "http://snomed.info/sct/731000124108/version/20250301",
"code": "238047006",
"display": "Beta-D-mannosidosis (disorder)"
},
{
"system": "http://snomed.info/sct",
"version": "http://snomed.info/sct/731000124108/version/20250301",
"code": "239010003",
"display": "Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia (disorder)"
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