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362991006: Auditory system hereditary disorder (disorder)

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

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 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 true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Mandibular hypoplasia, deafness, progeroid syndrome 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 Is a True Auditory system hereditary disorder Inferred relationship Some
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Chudley McCullough syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Flat face, microstomia, ear anomaly syndrome 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 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 Is a True Auditory system hereditary disorder Inferred relationship Some
Gemignani syndrome 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 Is a True Auditory system hereditary disorder Inferred relationship Some
Stickler syndrome type 3 Is a True Auditory system hereditary disorder Inferred relationship Some
Familial steroid-resistant nephrotic syndrome with sensorineural deafness 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 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 Is a True Auditory system hereditary disorder Inferred relationship Some
Lethal ataxia-deafness-optic atrophy 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 Is a True Auditory system hereditary disorder Inferred relationship Some
Johnson neuroectodermal syndrome 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 Is a True Auditory system hereditary disorder Inferred relationship Some
Keratitis ichthyosis and deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome 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 Is a True Auditory system hereditary disorder Inferred relationship Some
Diabetes mellitus AND insipidus with optic atrophy AND deafness Is a True Auditory system hereditary disorder Inferred relationship Some
Craniofacial deafness hand syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Emberger syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Brown-Vialetto-Van Laere syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Myhre syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Diabetes-deafness syndrome maternally transmitted 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 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 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 ageing, 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 Is a True Auditory system hereditary disorder Inferred relationship Some
Autosomal dominant spastic paraplegia type 29 Is a True Auditory system hereditary disorder Inferred relationship Some
Congenital ichthyosis, microcephalus, tetraplegia syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
NKX6-2-related autosomal recessive hypomyelinating leucodystrophy Is a True Auditory system hereditary disorder Inferred relationship Some
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Auditory neuropathy, optic atrophy syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome 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 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 Is a True Auditory system hereditary disorder Inferred relationship Some
Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease 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 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
EVEN-plus syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Infantile multisystem neurologic, endocrine, pancreatic disease Is a True Auditory system hereditary disorder Inferred relationship Some
Gouty tophus of pinna Is a False Auditory system hereditary disorder Inferred relationship Some
Jervell and Lange-Nielsen syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Jervell and Lange-Nielson syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type Is a True Auditory system hereditary disorder Inferred relationship Some
Pili torti-deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Neurofibromatosis type 2 Is a False Auditory system hereditary disorder Inferred relationship Some
Sensorineural deafness and male infertility Is a True Auditory system hereditary disorder Inferred relationship Some
Deafness-dystonia-optic neuronopathy syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Auriculo-condylar syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Oto-onycho-peroneal syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Deafness and oligodontia syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Cochleosaccular degeneration and cataract syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Progressive deafness with stapes fixation Is a True Auditory system hereditary disorder Inferred relationship Some
Spastic paraparesis and deafness Is a True Auditory system hereditary disorder Inferred relationship Some
Richards-Rundle syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Deafness craniofacial syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease type IE Is a True Auditory system hereditary disorder Inferred relationship Some
Lowry Yong syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Upper limb defect with eye and ear abnormalities syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Nathalie syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Thong Douglas Ferrante syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Chitty Hall Baraitser syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Tungland Bellman syndrome Is a True Auditory system hereditary disorder Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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