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788953003: Hereditary hearing loss (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3786242018 Hereditary hearing loss en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3786243011 Hereditary hearing loss (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

178 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary hearing loss Interprets Hearing true Inferred relationship Some 2
Hereditary hearing loss Finding site Structure of auditory system (body structure) true Inferred relationship Some 1
Hereditary hearing loss Is a Auditory system hereditary disorder true Inferred relationship Some
Hereditary hearing loss Is a Hearing finding (finding) false Inferred relationship Some
Hereditary hearing loss Is a Hearing loss true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Melnick-Fraser syndrome Is a True Hereditary hearing loss Inferred relationship Some
Jervell and Lange-Nielsen syndrome Is a True Hereditary hearing loss Inferred relationship Some
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Renal tubular acidosis with progressive nerve deafness Is a True Hereditary hearing loss Inferred relationship Some
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction Is a True Hereditary hearing loss Inferred relationship Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Is a True Hereditary hearing loss Inferred relationship Some
Maternally inherited diabetes and deafness (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Beta-D-mannosidosis Is a True Hereditary hearing loss Inferred relationship Some
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Mutilating keratoderma Is a True Hereditary hearing loss Inferred relationship Some
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Pendred's syndrome Is a True Hereditary hearing loss Inferred relationship Some
Wolfram syndrome Is a True Hereditary hearing loss Inferred relationship Some
Alstrom syndrome Is a True Hereditary hearing loss Inferred relationship Some
Retinitis pigmentosa-deafness syndrome Is a True Hereditary hearing loss Inferred relationship Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Is a True Hereditary hearing loss Inferred relationship Some
Oto-palato-digital syndrome, type I Is a True Hereditary hearing loss Inferred relationship Some
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type Is a True Hereditary hearing loss Inferred relationship Some
Björnstad syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Albinism-deafness syndrome of Tietz (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Myhre syndrome Is a True Hereditary hearing loss Inferred relationship Some
Progressive bulbar palsy with sensorineural deafness (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Bartter syndrome type 4 Is a True Hereditary hearing loss Inferred relationship Some
Sensorineural deafness and male infertility Is a True Hereditary hearing loss Inferred relationship Some
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a True Hereditary hearing loss Inferred relationship Some
Craniofacial deafness hand syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Arts syndrome Is a True Hereditary hearing loss Inferred relationship Some
Alport syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Sinoatrial node dysfunction and deafness Is a True Hereditary hearing loss Inferred relationship Some
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Is a True Hereditary hearing loss Inferred relationship Some
Facial dysmorphism, conductive hearing loss, heart defect syndrome Is a True Hereditary hearing loss Inferred relationship Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome Is a True Hereditary hearing loss Inferred relationship Some
Keipert syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Branchiootic syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a True Hereditary hearing loss Inferred relationship Some
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Chudley McCullough syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Is a True Hereditary hearing loss Inferred relationship Some
Congenital cataract, hearing loss, severe developmental delay syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Deafness with onychodystrophy syndrome Is a True Hereditary hearing loss Inferred relationship Some
Keratitis ichthyosis and deafness syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Branchiogenic deafness syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Deafness and hypogonadism syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Congenital cataract with ataxia and deafness syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Stapes ankylosis with broad thumb and toe syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Multiple epiphyseal dysplasia Beighton type (disorder) Is a True Hereditary hearing loss Inferred relationship Some
X-linked spinocerebellar ataxia type 3 (disorder) Is a True Hereditary hearing loss Inferred relationship Some
X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Deafness and myopia syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Ataxia with deafness and intellectual disability syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Athabaskan brainstem dysgenesis syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Bosley Salih Alorainy syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Fine Lubinsky syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Deaf blind hypopigmentation syndrome Yemenite type (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Developmental malformation, deafness, dystonia syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Johnson neuroectodermal syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Oculootoradial syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Palmoplantar keratoderma with deafness syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Severe X-linked intellectual disability Gustavson type (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Albinism with deafness syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Gingival fibromatosis with progressive deafness syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Thickened earlobe with conductive deafness syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Ramos Arroyo syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome Is a True Hereditary hearing loss Inferred relationship Some
Sensorineural hearing loss, early graying, essential tremor syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Sensorineural deafness with dilated cardiomyopathy syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Is a True Hereditary hearing loss Inferred relationship Some

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