| Source | us.nlm.vsac#0.11.0:null (v4.0.1) |
| resourceType | ValueSet |
| id | 2.16.840.1.113762.1.4.1146.2150 |
| canonical | http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1146.2150 |
| version | 20230122 |
| status | active |
| publisher | CSTE Steward |
| name | CongenitalHearingLossDisordersSNOMED |
| title | Congenital Hearing Loss (Disorders) (SNOMED) |
| date | 2023-01-22T01:03:33-05:00 |
| Usages | (none) |
This value set contains 114 concepts
| Code | System | Display |
| 1010606009 | http://snomed.info/sct | Waardenburg syndrome type 1 (disorder) |
| 1010610007 | http://snomed.info/sct | Retinitis pigmentosa-deafness syndrome type 3 (disorder) |
| 1010636000 | http://snomed.info/sct | Waardenburg syndrome type 2 (disorder) |
| 10170007 | http://snomed.info/sct | Black locks, oculocutaneous albinism, AND deafness of the sensorineural type (disorder) |
| 111339003 | http://snomed.info/sct | Congenital anomaly of ear with impairment of hearing (disorder) |
| 1167372000 | http://snomed.info/sct | X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder) |
| 1172635005 | http://snomed.info/sct | Split-foot malformation, mesoaxial polydactyly syndrome (disorder) |
| 1208614008 | http://snomed.info/sct | Autosomal dominant deafness with onychodystrophy syndrome (disorder) |
| 1228871002 | http://snomed.info/sct | Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) |
| 1230014007 | http://snomed.info/sct | Duane retraction syndrome with congenital deafness (disorder) |
| 1271009 | http://snomed.info/sct | Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) |
| 15984431000119109 | http://snomed.info/sct | Impairment of hearing of right ear co-occurrent and due to congenital ear malformation (disorder) |
| 15984471000119107 | http://snomed.info/sct | Impairment of hearing of left ear co-occurrent and due to congenital ear malformation (disorder) |
| 15984511000119103 | http://snomed.info/sct | Impairment of hearing of bilateral ears co-occurrent and due to congenital ear malformation (disorder) |
| 15984551000119102 | http://snomed.info/sct | Impairment of hearing of right ear co-occurrent and due to congenital external ear malformation (disorder) |
| 15984591000119107 | http://snomed.info/sct | Impairment of hearing of left ear co-occurrent and due to congenital external ear malformation (disorder) |
| 15984631000119107 | http://snomed.info/sct | Impairment of hearing of bilateral ears co-occurrent and due to congenital external ear malformation (disorder) |
| 186570004 | http://snomed.info/sct | Rubella deafness (disorder) |
| 232057003 | http://snomed.info/sct | Usher syndrome type 1 (disorder) |
| 232058008 | http://snomed.info/sct | Usher syndrome type 2 (disorder) |
| 232335002 | http://snomed.info/sct | Earpit syndrome (disorder) |
| 236529001 | http://snomed.info/sct | Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder) |
| 237617006 | http://snomed.info/sct | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness (disorder) |
| 238047006 | http://snomed.info/sct | Beta-D-mannosidosis (disorder) |
| 239010003 | http://snomed.info/sct | Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia (disorder) |
| 239059004 | http://snomed.info/sct | Keratitis ichthyosis and deafness syndrome (disorder) |
| 24559001 | http://snomed.info/sct | Mutilating keratoderma (disorder) |
| 2625009 | http://snomed.info/sct | Senter syndrome (disorder) |
| 290006 | http://snomed.info/sct | Melnick-Fraser syndrome (disorder) |
| 373905003 | http://snomed.info/sct | Jervell and Lange-Nielsen syndrome (disorder) |
| 403780007 | http://snomed.info/sct | Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder) |
| 403805009 | http://snomed.info/sct | Albinism-deafness syndrome of Tietz (disorder) |
| 47434006 | http://snomed.info/sct | Waardenburg syndrome (disorder) |
| 54036001 | http://snomed.info/sct | Oto-palato-digital syndrome, type I (disorder) |
| 57838006 | http://snomed.info/sct | Retinitis pigmentosa-deafness syndrome (disorder) |
| 67817003 | http://snomed.info/sct | Pili torti-deafness syndrome (disorder) |
| 698615007 | http://snomed.info/sct | Congenital deaf mutism (disorder) |
| 699238006 | http://snomed.info/sct | Congenital prelingual deafness (disorder) |
| 699316006 | http://snomed.info/sct | Myhre syndrome (disorder) |
| 700112007 | http://snomed.info/sct | Bartter syndrome type 4 (disorder) |
| 700453005 | http://snomed.info/sct | Congenital sensorineural hearing loss (disorder) |
| 702360007 | http://snomed.info/sct | Congenital deafness with labyrinthine aplasia, microtia and microdontia (disorder) |
| 702362004 | http://snomed.info/sct | Craniofacial deafness hand syndrome (disorder) |
| 70348004 | http://snomed.info/sct | Pendred's syndrome (disorder) |
| 711409002 | http://snomed.info/sct | 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder) |
| 715506001 | http://snomed.info/sct | Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) |
| 715527006 | http://snomed.info/sct | Deafness and oligodontia syndrome (disorder) |
| 715529009 | http://snomed.info/sct | Progressive deafness with stapes fixation (disorder) |
| 715952000 | http://snomed.info/sct | Waardenburg Shah syndrome (disorder) |
| 716007007 | http://snomed.info/sct | Cleft palate and cleft lip with deafness and sacral lipoma syndrome (disorder) |
| 716238003 | http://snomed.info/sct | Deafness with epiphyseal dysplasia and short stature syndrome (disorder) |
| 716243005 | http://snomed.info/sct | Deafness with malformation of ear and facial palsy syndrome (disorder) |
| 716245003 | http://snomed.info/sct | Deafness craniofacial syndrome (disorder) |
| 717183001 | http://snomed.info/sct | Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) |
| 717761005 | http://snomed.info/sct | Choroideremia with deafness and obesity syndrome (disorder) |
| 717791000 | http://snomed.info/sct | Bartter syndrome type 4a (disorder) |
| 717909004 | http://snomed.info/sct | Bilateral microtia with deafness and cleft palate syndrome (disorder) |
| 717944002 | http://snomed.info/sct | Branchiogenic deafness syndrome (disorder) |
| 718574003 | http://snomed.info/sct | Cleft palate with coloboma of eye and deafness syndrome (disorder) |
| 718714006 | http://snomed.info/sct | Deafness and hypogonadism syndrome (disorder) |
| 719305006 | http://snomed.info/sct | Stapes ankylosis with broad thumb and toe syndrome (disorder) |
| 719689005 | http://snomed.info/sct | Multiple epiphyseal dysplasia Beighton type (disorder) |
| 719800009 | http://snomed.info/sct | Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) |
| 720567008 | http://snomed.info/sct | Bosley Salih Alorainy syndrome (disorder) |
| 720612000 | http://snomed.info/sct | Cardiospondylocarpofacial syndrome (disorder) |
| 720957007 | http://snomed.info/sct | Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) |
| 721087008 | http://snomed.info/sct | Deafness and intellectual disability Martin Probst type syndrome (disorder) |
| 721221000 | http://snomed.info/sct | Hirschsprung disease with deafness and polydactyly syndrome (disorder) |
| 721584005 | http://snomed.info/sct | Johnson neuroectodermal syndrome (disorder) |
| 722019000 | http://snomed.info/sct | Oculootoradial syndrome (disorder) |
| 722213009 | http://snomed.info/sct | Severe X-linked intellectual disability Gustavson type (disorder) |
| 722285005 | http://snomed.info/sct | Albinism with deafness syndrome (disorder) |
| 722378009 | http://snomed.info/sct | Congenital cataract with deafness and hypogonadism syndrome (disorder) |
| 722476007 | http://snomed.info/sct | Thickened earlobe with conductive deafness syndrome (disorder) |
| 725137007 | http://snomed.info/sct | Neutropenia, monocytopenia, deafness syndrome (disorder) |
| 726621009 | http://snomed.info/sct | Caudal appendage deafness syndrome (disorder) |
| 73119000 | http://snomed.info/sct | Retinitis pigmentosa-deafness-ataxia syndrome (disorder) |
| 732248005 | http://snomed.info/sct | Coxoauricular syndrome (disorder) |
| 733065003 | http://snomed.info/sct | Myoclonus, cerebellar ataxia, deafness syndrome (disorder) |
| 733069009 | http://snomed.info/sct | Deafness, vitiligo, achalasia syndrome (disorder) |
| 733071009 | http://snomed.info/sct | Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) |
| 733089005 | http://snomed.info/sct | Spastic paraplegia, nephritis, deafness syndrome (disorder) |
| 733419006 | http://snomed.info/sct | Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder) |
| 734022008 | http://snomed.info/sct | Wolfram-like syndrome (disorder) |
| 737344003 | http://snomed.info/sct | Congenital conductive hearing loss (disorder) |
| 737377004 | http://snomed.info/sct | Congenital mixed conductive and sensorineural hearing loss (disorder) |
| 763136000 | http://snomed.info/sct | Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome (disorder) |
| 763279007 | http://snomed.info/sct | Facial dysmorphism, conductive hearing loss, heart defect syndrome (disorder) |
| 763688008 | http://snomed.info/sct | Deafness, encephaloneuropathy, obesity, valvulopathy syndrome (disorder) |
| 763774001 | http://snomed.info/sct | Keipert syndrome (disorder) |
| 764098007 | http://snomed.info/sct | Prelingual non-syndromic genetic deafness (disorder) |
| 764810000 | http://snomed.info/sct | Branchiootic syndrome (disorder) |
| 765325002 | http://snomed.info/sct | Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) |
| 766249007 | http://snomed.info/sct | Deafness, nephritis, anorectal malformation syndrome (disorder) |
| 766870005 | http://snomed.info/sct | Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) |
| 770751003 | http://snomed.info/sct | Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder) |
| 770784003 | http://snomed.info/sct | Sinoatrial node dysfunction and deafness (disorder) |
| 770944002 | http://snomed.info/sct | Oculootodental syndrome (disorder) |
| 773398005 | http://snomed.info/sct | Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome (disorder) |
| 773406003 | http://snomed.info/sct | Mandibular hypoplasia, deafness, progeroid syndrome (disorder) |
| 773583007 | http://snomed.info/sct | Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) |
| 773648002 | http://snomed.info/sct | Congenital cataract, hearing loss, severe developmental delay syndrome (disorder) |
| 773665006 | http://snomed.info/sct | Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) |
| 773667003 | http://snomed.info/sct | Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) |
| 773735007 | http://snomed.info/sct | Deafness with onychodystrophy syndrome (disorder) |
| 777998000 | http://snomed.info/sct | Temtamy preaxial brachydactyly syndrome (disorder) |
| 778006008 | http://snomed.info/sct | Autosomal dominant aplasia and myelodysplasia (disorder) |
| 782942003 | http://snomed.info/sct | Renal caliceal diverticuli and deafness syndrome (disorder) |
| 783097004 | http://snomed.info/sct | Stickler syndrome type 3 (disorder) |
| 783742004 | http://snomed.info/sct | Conductive hearing loss, malformation of external ear syndrome (disorder) |
| 79665007 | http://snomed.info/sct | Wildervanck syndrome (disorder) |
| 93466004 | http://snomed.info/sct | Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder) |
| 95827002 | http://snomed.info/sct | Congenital hearing disorder (disorder) |
| 95828007 | http://snomed.info/sct | Congenital deafness (disorder) |
Produced 08 Sep 2023