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362991006: Auditory system hereditary disorder (disorder)

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

Descriptions:

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

205 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 Some
Auditory system hereditary disorder Is a Hereditary disorder by system true Inferred relationship Some
Auditory system hereditary disorder Finding site Structure of auditory system (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Myoclonus, cerebellar ataxia, deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Deafness, vitiligo, achalasia syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Wolfram-like syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Retinitis pigmentosa-deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Is a True Auditory system hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Cleft palate, large ears, small head syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Facial dysmorphism, conductive hearing loss, heart defect syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Keipert syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Oculoauricular syndrome Schorderet type Is a True Auditory system hereditary disorder Inferred relationship Some
Postlingual non-syndromic genetic deafness Is a False Auditory system hereditary disorder Inferred relationship Some
Prelingual non-syndromic genetic deafness (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Branchiootic syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Waardenburg syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Alstrom syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Otopalatodigital syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Alport syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a True Auditory system hereditary disorder Inferred relationship Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Sinoatrial node dysfunction and deafness Is a True Auditory system hereditary disorder Inferred relationship Some
Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Ocular albinism with congenital sensorineural deafness Is a False Auditory system hereditary disorder Inferred relationship Some
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Chudley McCullough syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Flat face, microstomia, ear anomaly syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Deafness with onychodystrophy syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Congenital cataract, hearing loss, severe developmental delay syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Temtamy preaxial brachydactyly syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Autosomal dominant aplasia and myelodysplasia (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Gemignani syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Stickler syndrome type 3 (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Hypotrichosis and deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Oto-palato-digital syndrome, type I Is a True Auditory system hereditary disorder Inferred relationship Some
Oto-palato-digital syndrome, type II Is a True Auditory system hereditary disorder Inferred relationship Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Is a True Auditory system hereditary disorder Inferred relationship Some
Pendred's syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Arts syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Inherited cochlear degeneration Is a True Auditory system hereditary disorder Inferred relationship Some
Hystrix ichthyosis with deafness Is a False Auditory system hereditary disorder Inferred relationship Some
Multiple epiphyseal dysplasia Beighton type (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Johnson neuroectodermal syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Hereditary hearing loss Is a True Auditory system hereditary disorder Inferred relationship Some
Melnick-Fraser syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Renal tubular acidosis with progressive nerve deafness Is a True Auditory system hereditary disorder Inferred relationship Some
X-linked spinocerebellar ataxia type 3 (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Keratitis ichthyosis and deafness syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Familial amyloid nephropathy with urticaria AND deafness Is a True Auditory system hereditary disorder Inferred relationship Some
Albinism-deafness syndrome of Tietz (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Wolfram syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Craniofacial deafness hand syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Emberger syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Progressive bulbar palsy with sensorineural deafness (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Myhre syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Maternally inherited diabetes and deafness (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction Is a True Auditory system hereditary disorder Inferred relationship Some
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Bartter syndrome type 4 Is a True Auditory system hereditary disorder Inferred relationship Some
Beta-D-mannosidosis Is a True Auditory system hereditary disorder Inferred relationship Some
Mutilating keratoderma Is a True Auditory system hereditary disorder Inferred relationship Some
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Split-foot malformation, mesoaxial polydactyly syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
X-linked sensorineural hearing loss Is a True Auditory system hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 25 (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Autosomal dominant spastic paraplegia type 29 (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Auditory neuropathy, optic atrophy syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
PCNA-related progressive neurodegenerative photosensitivity syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Duane retraction syndrome with congenital deafness Is a True Auditory system hereditary disorder Inferred relationship Some
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Otodental syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Waardenburg Shah syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect Is a True Auditory system hereditary disorder Inferred relationship Some
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some

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