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362991006: Auditory system hereditary disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
482126018 Auditory system hereditary disorder en Synonym Active Entire term case insensitive SNOMED CT core module
754765014 Auditory system hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

200 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Auditory system hereditary disorder Is a Disorder of auditory system true Inferred relationship Existential restriction modifier
Auditory system hereditary disorder Is a Hereditary disorder by system true Inferred relationship Existential restriction modifier
Auditory system hereditary disorder Finding site Structure of auditory system true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Myoclonus, cerebellar ataxia, deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Deafness, vitiligo, achalasia syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Deafness, small bowel diverticulosis, neuropathy syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Spastic paraplegia, nephritis, deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Wolfram-like syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Retinitis pigmentosa-deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Cleft palate, large ears, small head syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Facial dysmorphism, conductive hearing loss, heart defect syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Keipert syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Oculoauricular syndrome Schorderet type Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Postlingual non-syndromic genetic deafness Is a False Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Prelingual non-syndromic genetic deafness Is a False Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Branchiootic syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Waardenburg syndrome Is a False Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Alstrom syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Otopalatodigital syndrome Is a False Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Alport syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Sinoatrial node dysfunction and deafness Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Mandibular hypoplasia, deafness, progeroid syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Ocular albinism with congenital sensorineural deafness Is a False Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Chudley McCullough syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Flat face, microstomia, ear anomaly syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Deafness with onychodystrophy syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Congenital cataract, hearing loss, severe developmental delay syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Temtamy preaxial brachydactyly syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant aplasia and myelodysplasia Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Gemignani syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Stickler syndrome type 3 Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Familial steroid-resistant nephrotic syndrome with sensorineural deafness Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Hypotrichosis and deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
External auditory canal atresia, vertical talus, hypertelorism syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Oto-palato-digital syndrome, type I Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Oto-palato-digital syndrome, type II Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Pendred's syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Fatal X-linked ataxia with deafness and loss of vision Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Inherited cochlear degeneration Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Hystrix ichthyosis with deafness Is a False Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Multiple epiphyseal dysplasia Beighton type Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Johnson neuroectodermal syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary hearing loss Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Melnick-Fraser syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Renal tubular acidosis with progressive nerve deafness Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
X-linked spinocerebellar ataxia type 3 Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Keratitis ichthyosis and deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Familial amyloid nephropathy with urticaria AND deafness Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Albinism-deafness syndrome of Tietz Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Diabetes mellitus AND insipidus with optic atrophy AND deafness Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Craniofacial deafness hand syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Emberger syndrome Is a False Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Progressive bulbar palsy with sensorineural deafness Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Myhre syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Diabetes-deafness syndrome maternally transmitted Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary sensory and autonomic neuropathy with deafness and global delay Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Bartter syndrome type 4 Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Beta-D-mannosidosis Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Mutilating keratoderma Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Split-foot malformation, mesoaxial polydactyly syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
X-linked sensorineural hearing loss Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 25 Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant spastic paraplegia type 29 Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Congenital ichthyosis, microcephalus, tetraplegia syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Auditory neuropathy, optic atrophy syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Duane retraction syndrome with congenital deafness Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Otodental syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Waardenburg Shah syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier

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