Hereditary hearing loss

Code	`788953003`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20250701

722285005Albinism with deafness syndrome disorder

403805009Albinism-deafness syndrome of Tietz disorder

770414008Alport syndrome disorder

63702009Alstrom syndrome disorder

773583007Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome disorder

702441001Arts syndrome disorder

720517001Ataxia with deafness and intellectual disability syndrome disorder

720518006Athabaskan brainstem dysgenesis syndrome disorder

720519003Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome disorder

1222649004Auditory neuropathy, optic atrophy syndrome disorder

778006008Autosomal dominant aplasia and myelodysplasia disorder

722293005Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome disorder

1229999001Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome disorder

733029008Autosomal dominant spastic paraplegia type 29 disorder

1204415006Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome disorder

700112007Bartter syndrome type 4 disorder

238047006Beta-D-mannosidosis disorder

717909004Bilateral microtia with deafness and cleft palate syndrome disorder

67817003Björnstad syndrome disorder

10170007Black locks, oculocutaneous albinism, AND deafness of the sensorineural type disorder

720567008Bosley Salih Alorainy syndrome disorder

717944002Branchiogenic deafness syndrome disorder

764810000Branchiootic syndrome disorder

699866005Brown-Vialetto-Van Laere syndrome disorder

1332382002COMMAD syndrome disorder

720601000Camptodactyly and tall stature with scoliosis and hearing loss syndrome disorder

720612000Cardiospondylocarpofacial syndrome disorder

1220595008Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome disorder

726669007Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome disorder

720634003Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome disorder

715666007Charcot-Marie-Tooth disease type IE disorder

763136000Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome disorder

716238003Chitty Hall Baraitser syndrome disorder

1281843005Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome disorder

773610007Chudley McCullough syndrome disorder

720639008Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome disorder

1173035001Combined oxidative phosphorylation defect type 25 disorder

719102004Congenital cataract with ataxia and deafness syndrome disorder

722378009Congenital cataract with deafness and hypogonadism syndrome disorder

773648002Congenital cataract, hearing loss, severe developmental delay syndrome disorder

773398005Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome disorder

702360007Congenital deafness with labyrinthine aplasia, microtia and microdontia disorder

720749004Congenital hereditary endothelial dystrophy and perceptive deafness syndrome disorder

722389002Congenital hereditary facial paralysis with variable hearing loss syndrome disorder

1197059004Congenital ichthyosis, microcephalus, tetraplegia syndrome disorder

732248005Coxoauricular syndrome disorder

702362004Craniofacial deafness hand syndrome disorder

1172604004DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome disorder

721084001Deaf blind hypopigmentation syndrome Yemenite type disorder

718714006Deafness and hypogonadism syndrome disorder

720506002Deafness and myopia syndrome disorder

715527006Deafness and oligodontia syndrome disorder

716245003Deafness craniofacial syndrome disorder

773735007Deafness with onychodystrophy syndrome disorder

721085000Deafness, enamel hypoplasia, nail defect syndrome disorder

763688008Deafness, encephaloneuropathy, obesity, valvulopathy syndrome disorder

733071009Deafness, small bowel diverticulosis, neuropathy syndrome disorder

733069009Deafness, vitiligo, achalasia syndrome disorder

721089006Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome disorder

721092005Developmental malformation, deafness, dystonia syndrome disorder

1230014007Duane retraction syndrome with congenital deafness disorder

733050004Dysmorphism, short stature, deafness, disorder of sex development syndrome disorder

732953008Ectodermal dysplasia and sensorineural deafness syndrome disorder

720859009Ehlers-Danlos syndrome kyphoscoliotic and deafness type disorder

763279007Facial dysmorphism, conductive hearing loss, heart defect syndrome disorder

15123008Familial amyloid nephropathy with urticaria AND deafness disorder

783614008Familial steroid-resistant nephrotic syndrome with sensorineural deafness disorder

720955004Fine Lubinsky syndrome disorder

720957007Fountain syndrome disorder

782690007Gemignani syndrome disorder

722449007Gingival fibromatosis with progressive deafness syndrome disorder

93466004Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance disorder

722453009Hennekam Beemer syndrome disorder

717826009Hereditary sensory and autonomic neuropathy with deafness and global delay disorder

721221000Hirschsprung disease with deafness and polydactyly syndrome disorder

773667003Hypertelorism, preauricular sinus, punctual pits, deafness syndrome disorder

773665006Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome disorder

724282009Hypoparathyroidism, deafness, renal disease syndrome disorder

783555001Hypotrichosis and deafness syndrome disorder

1260450002Infantile multisystem neurologic, endocrine, pancreatic disease disorder

373905003Jervell and Lange-Nielsen syndrome disorder

721584005Johnson neuroectodermal syndrome disorder

239059004KID syndrome disorder

716112005Kawashima Tsuji syndrome disorder

763774001Keipert syndrome disorder

1271009Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome disorder

721973006Lipodystrophy, intellectual disability, deafness syndrome disorder

716007007Lowry Yong syndrome disorder

722035007MEDNIK syndrome disorder

711409002MEGDEL syndrome disorder

773406003Mandibular hypoplasia, deafness, progeroid syndrome disorder

724173009Maternally inherited cardiomyopathy and hearing loss syndrome disorder

237619009Maternally inherited diabetes and deafness disorder

237617006Megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness disorder

290006Melnick-Fraser syndrome disorder

733419006Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome disorder

1254651003Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome disorder

1300194008Mitchell syndrome disorder

719689005Multiple epiphyseal dysplasia Beighton type disorder

24559001Mutilating keratoderma disorder

699316006Myhre syndrome disorder

733065003Myoclonus, cerebellar ataxia, deafness syndrome disorder

716170005Nathalie syndrome disorder

724093004Nephropathy, deafness, hyperparathyroidism syndrome disorder

724092009Nephrosis, deafness, urinary tract, digital malformation syndrome disorder

773647007Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome disorder

771308008Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome disorder

722019000Oculootoradial syndrome disorder

1222655009Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome disorder

54036001Oto-palato-digital syndrome, type I disorder

1237343009Otodental syndrome disorder

1228871002PCNA-related progressive neurodegenerative photosensitivity syndrome disorder

722203001Palmoplantar keratoderma with deafness syndrome disorder

70348004Pendred's syndrome disorder

765325002Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease disorder

723497003Peripheral neuropathy with sensorineural hearing impairment syndrome disorder

782752005Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome disorder

237612000Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction disorder

723452007Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome disorder

1237413006Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome disorder

719272007Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome disorder

236529001Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness disorder

723504000Ramos Arroyo syndrome disorder

236532003Renal tubular acidosis with progressive nerve deafness disorder

1172605003Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome disorder

724001005Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome disorder

57838006Retinitis pigmentosa-deafness syndrome disorder

1367656002SLC12A2-related developmental delay, intellectual disability, sensorineural deafness syndrome disorder

721207002Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome disorder

716243005Sellars Beighton syndrome disorder

700489002Sensorineural deafness and male infertility disorder

723993005Sensorineural deafness with dilated cardiomyopathy syndrome disorder

723721007Sensorineural hearing loss, early greying, essential tremor syndrome disorder

722213009Severe X-linked intellectual disability Gustavson type disorder

770751003Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome disorder

770784003Sinoatrial node dysfunction and deafness disorder

715504003Spastic paraparesis and deafness disorder

733089005Spastic paraplegia, nephritis, deafness syndrome disorder

723611008Split hand, split foot malformation with sensorineural hearing loss syndrome disorder

1172635005Split-foot malformation, mesoaxial polydactyly syndrome disorder

718763005Spondyloepiphyseal dysplasia MacDermot type disorder

1356736002Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome disorder

719305006Stapes ankylosis with broad thumb and toe syndrome disorder

783097004Stickler syndrome type 3 disorder

1260133007Syndromic sensorineural deafness due to combined oxidative phosphorylation defect disorder

777998000Temtamy preaxial brachydactyly syndrome disorder

722476007Thickened earlobe with conductive deafness syndrome disorder

716192009Thong Douglas Ferrante syndrome disorder

716239006Tungland Bellman syndrome disorder

1255271005Type 1 diabetes mellitus, central and peripheral neurodegeneration syndrome disorder

715952000Waardenburg Shah syndrome disorder

70694009Wolfram syndrome disorder

734022008Wolfram-like syndrome disorder

1167372000X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome disorder

719838008X-linked hereditary sensory and autonomic neuropathy with deafness disorder

232329002X-linked sensorineural hearing loss disorder

719817002X-linked spinocerebellar ataxia type 3 disorder

Parents (2)

Children (157)