Auditory system hereditary disorder
Hearing loss
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Hereditary hearing loss (disorder)
Hereditary hearing loss
Id
788953003
Status
Defined
Interprets
Hearing
Finding site
Structure of auditory system
SNOMED CT to ICD-10 extended map
Target
H91.9
Rule
TRUE
Advice
ALWAYS H91.9
Correlation
SNOMED CT source code to target map code correlation not specified
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Albinism with deafness syndrome
Albinism-deafness syndrome of Tietz
Alport syndrome
3
Alstrom syndrome
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
Arts syndrome
Ataxia with deafness and intellectual disability syndrome
Athabaskan brainstem dysgenesis syndrome
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome
Auditory neuropathy, optic atrophy syndrome
Autosomal dominant aplasia and myelodysplasia
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome
Autosomal dominant spastic paraplegia type 29
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
Bartter syndrome type 4
1
Beta-D-mannosidosis
Bilateral microtia with deafness and cleft palate syndrome
Björnstad syndrome
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type
Bosley Salih Alorainy syndrome
Branchiogenic deafness syndrome
Branchiootic syndrome
Brown-Vialetto-Van Laere syndrome
Camptodactyly and tall stature with scoliosis and hearing loss syndrome
Cardiospondylocarpofacial syndrome
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
Charcot-Marie-Tooth disease type IE
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
Chitty Hall Baraitser syndrome
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome
Chudley McCullough syndrome
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome
Combined oxidative phosphorylation defect type 25
COMMAD syndrome
Congenital cataract with ataxia and deafness syndrome
Congenital cataract with deafness and hypogonadism syndrome
Congenital cataract, hearing loss, severe developmental delay syndrome
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
Congenital deafness with labyrinthine aplasia, microtia and microdontia
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome
Congenital hereditary facial paralysis with variable hearing loss syndrome
Congenital ichthyosis, microcephalus, tetraplegia syndrome
Coxoauricular syndrome
Craniofacial deafness hand syndrome
Deaf blind hypopigmentation syndrome Yemenite type
Deafness and hypogonadism syndrome
Deafness and myopia syndrome
Deafness and oligodontia syndrome
Deafness craniofacial syndrome
Deafness with onychodystrophy syndrome
2
Deafness, enamel hypoplasia, nail defect syndrome
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
Deafness, small bowel diverticulosis, neuropathy syndrome
Deafness, vitiligo, achalasia syndrome
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
Developmental malformation, deafness, dystonia syndrome
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
Duane retraction syndrome with congenital deafness
Dysmorphism, short stature, deafness, disorder of sex development syndrome
Ectodermal dysplasia and sensorineural deafness syndrome
Ehlers-Danlos syndrome kyphoscoliotic and deafness type
Facial dysmorphism, conductive hearing loss, heart defect syndrome
Familial amyloid nephropathy with urticaria AND deafness
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Fine Lubinsky syndrome
Fountain syndrome
Gemignani syndrome
Gingival fibromatosis with progressive deafness syndrome
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
Hennekam Beemer syndrome
Hereditary sensory and autonomic neuropathy with deafness and global delay
Hirschsprung disease with deafness and polydactyly syndrome
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome
Hypoparathyroidism, deafness, renal disease syndrome
Hypotrichosis and deafness syndrome
Infantile multisystem neurologic, endocrine, pancreatic disease
Jervell and Lange-Nielsen syndrome
Johnson neuroectodermal syndrome
Kawashima Tsuji syndrome
Keipert syndrome
KID syndrome
2
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome
Lipodystrophy, intellectual disability, deafness syndrome
Lowry Yong syndrome
Mandibular hypoplasia, deafness, progeroid syndrome
Maternally inherited cardiomyopathy and hearing loss syndrome
Maternally inherited diabetes and deafness
MEDNIK syndrome
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
MEGDEL syndrome
Melnick-Fraser syndrome
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome
Mitchell syndrome
Multiple epiphyseal dysplasia Beighton type
Mutilating keratoderma
1
Myhre syndrome
Myoclonus, cerebellar ataxia, deafness syndrome
Nathalie syndrome
Nephropathy, deafness, hyperparathyroidism syndrome
Nephrosis, deafness, urinary tract, digital malformation syndrome
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome
Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
Oculootoradial syndrome
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
Oto-palato-digital syndrome, type I
Otodental syndrome
Palmoplantar keratoderma with deafness syndrome
PCNA-related progressive neurodegenerative photosensitivity syndrome
Pendred's syndrome
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease
Peripheral neuropathy with sensorineural hearing impairment syndrome
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness
Ramos Arroyo syndrome
Renal tubular acidosis with progressive nerve deafness
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome
Retinitis pigmentosa-deafness syndrome
4
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
Sellars Beighton syndrome
Sensorineural deafness and male infertility
Sensorineural deafness with dilated cardiomyopathy syndrome
Sensorineural hearing loss, early graying, essential tremor syndrome
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
Severe X-linked intellectual disability Gustavson type
Sinoatrial node dysfunction and deafness
SLC12A2-related developmental delay, intellectual disability, sensorineural deafness syndrome
Spastic paraparesis and deafness
Spastic paraplegia, nephritis, deafness syndrome
Split hand, split foot malformation with sensorineural hearing loss syndrome
Split-foot malformation, mesoaxial polydactyly syndrome
Spondyloepiphyseal dysplasia MacDermot type
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome
Stapes ankylosis with broad thumb and toe syndrome
Stickler syndrome type 3
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect
Temtamy preaxial brachydactyly syndrome
Thickened earlobe with conductive deafness syndrome
Thong Douglas Ferrante syndrome
Tungland Bellman syndrome
Type 1 diabetes mellitus, central and peripheral neurodegeneration syndrome
Waardenburg Shah syndrome
Wolfram syndrome
2
Wolfram-like syndrome
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked sensorineural hearing loss
5
X-linked spinocerebellar ataxia type 3