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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
Tophus of ear co-occurrent and due to gout Is a False Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Neurofibromatosis type 2 Is a False Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Jervell and Lange-Nielsen syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Jervell and Lange-Nielson syndrome Is a False Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Pili torti-deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Sensorineural deafness and male infertility Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Deafness-dystonia-optic neuronopathy syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Auriculo-condylar syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Oto-onycho-peroneal syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Deafness and oligodontia syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Cochleosaccular degeneration and cataract syndrome Is a False Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Progressive deafness with stapes fixation Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Spastic paraparesis co-occurrent with deafness Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Richards-Rundle syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Deafness craniofacial syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease type IE Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Cleft palate and cleft lip with deafness and sacral lipoma syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Upper limb defect with eye and ear abnormalities syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Microcephaly with deafness and intellectual disability syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Deafness with cataract and skeletal anomaly syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Deafness with epiphyseal dysplasia and short stature syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Hearing loss and salivary gland insensitivity to aldosterone syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Deafness with malformation of ear and facial palsy syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Cleft palate with coloboma of eye and deafness syndrome Is a False Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Deafness and hypogonadism syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Congenital cataract with ataxia and deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Stapes ankylosis with broad thumb and toe syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Cleft palate with stapes fixation and oligodontia syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
X-linked hereditary sensory and autonomic neuropathy with deafness Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Camptodactyly and tall stature with scoliosis and hearing loss syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Cardiospondylocarpofacial syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Distal arthrogryposis type 6 Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Ataxia with deafness and intellectual disability syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Athabaskan brainstem dysgenesis syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Bosley Salih Alorainy syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Is a False Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Aural atresia with multiple congenital anomalies and intellectual disability syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Deafness with skeletal dysplasia and lip granuloma syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Choroideremia with deafness and obesity syndrome Is a False Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Fine Lubinsky syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Deaf blind hypopigmentation syndrome Yemenite type Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Deafness, enamel hypoplasia, nail defect syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Deafness and intellectual disability Martin Probst type syndrome Is a False Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Developmental malformation, deafness, dystonia syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Branchiogenic deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Hirschsprung disease with deafness and polydactyly syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Scalp, ear, nipple syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Bilateral microtia with deafness and cleft palate syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Lipodystrophy, intellectual disability, deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome Is a False Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Deafness and myopia syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Hypertelorism with microtia and facial clefting syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Isotretinoin embryopathy-like syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Oculootoradial syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Ocular albinism with late-onset sensorineural deafness Is a False Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Albinism with deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Congenital cataract with deafness and hypogonadism syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Congenital hereditary facial paralysis with variable hearing loss syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Cutaneous mastocytosis, short stature, hearing loss syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a False Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Is a False Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Severe X-linked intellectual disability Gustavson type Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Gingival fibromatosis with progressive deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Thickened earlobe with conductive deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Palmoplantar keratoderma with deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Macrostomia, preauricular tag, external ophthalmoplegia syndrome Is a False Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Ramos Arroyo syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Peripheral neuropathy with sensorineural hearing impairment syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Split hand, split foot malformation with sensorineural hearing loss syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Sensorineural hearing loss, early graying, essential tremor syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Sensorineural deafness with dilated cardiomyopathy syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Nephrosis, deafness, urinary tract, digital malformation syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Nephropathy, deafness, hyperparathyroidism syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Maternally inherited cardiomyopathy and hearing loss syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Hypospadias, hypertelorism, coloboma, deafness syndrome Is a False Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Hypoparathyroidism, deafness, renal disease syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Cryptomicrotia brachydactyly syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, cataract, calcified pinna, myopathy syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Coxoauricular syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Ectodermal dysplasia and sensorineural deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Dysmorphism, short stature, deafness, disorder of sex development syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier
Myoclonus, cerebellar ataxia, deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Existential restriction modifier

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