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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

199 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Auditory system hereditary disorder est un(e) (attribut) affection du système auditif true Inferred relationship Some
Auditory system hereditary disorder est un(e) (attribut) Hereditary disorder by system true Inferred relationship Some
Auditory system hereditary disorder localisation d'une constatation (attribut) structure du système auditif true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Ocular albinism with congenital sensorineural deafness est un(e) (attribut) False Auditory system hereditary disorder Inferred relationship Some
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Chudley McCullough syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Flat face, microstomia, ear anomaly syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Deafness with onychodystrophy syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
syndrome de cataracte congénitale-surdité-retard de développement sévère est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Temtamy preaxial brachydactyly syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Autosomal dominant aplasia and myelodysplasia (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Gemignani syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
syndrome de coussinets des phalanges-leuconychie-surdité neurosensorielle-hyperkératose palmoplantaire (trouble) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Stickler syndrome type 3 (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Hypotrichosis and deafness syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
syndrome oto-palato-digital type 1 (trouble) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
syndrome oto-palato-digital type 2 (trouble) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Pendred's syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
syndrome de prune belly avec sténose pulmonaire, arriération mentale et surdité est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Arts syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Inherited cochlear degeneration est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Hystrix ichthyosis with deafness est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Multiple epiphyseal dysplasia Beighton type (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Johnson neuroectodermal syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Hereditary hearing loss est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Melnick-Fraser syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
acidose tubulaire rénale avec surdité de perception progressive est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
X-linked spinocerebellar ataxia type 3 (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Keratitis ichthyosis and deafness syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
néphropathie amyloïde familiale avec urticaire et surdité est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Albinism-deafness syndrome of Tietz (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
diabète sucré et diabète insipide avec atrophie optique et surdité est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Craniofacial deafness hand syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Emberger syndrome est un(e) (attribut) False Auditory system hereditary disorder Inferred relationship Some
Progressive bulbar palsy with sensorineural deafness (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Myhre syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Diabetes-deafness syndrome maternally transmitted est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
myoclonie photo-induite, diabète sucré, surdité, néphropathie et dysfonctionnement cérébral est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Bartter syndrome type 4 est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Beta-D-mannosidosis est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Mutilating keratoderma est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Split-foot malformation, mesoaxial polydactyly syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
X-linked sensorineural hearing loss (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 25 (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Autosomal dominant spastic paraplegia type 29 (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Auditory neuropathy, optic atrophy syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
PCNA-related progressive neurodegenerative photosensitivity syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Duane retraction syndrome with congenital deafness est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
tophus goutteux d'une oreille est un(e) (attribut) False Auditory system hereditary disorder Inferred relationship Some
Jervell and Lange-Nielsen syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Jervell and Lange-Nielson syndrome (finding) est un(e) (attribut) False Auditory system hereditary disorder Inferred relationship Some
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Pili torti-deafness syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Neurofibromatosis type 2 est un(e) (attribut) False Auditory system hereditary disorder Inferred relationship Some
Sensorineural deafness and male infertility est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Deafness-dystonia-optic neuronopathy syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Auriculo-condylar syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
syndrome oto-onycho-péronéal est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Deafness and oligodontia syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Cochleosaccular degeneration and cataract syndrome (disorder) est un(e) (attribut) False Auditory system hereditary disorder Inferred relationship Some
Progressive deafness with stapes fixation (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Spastic paraparesis co-occurrent with deafness (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Richards-Rundle syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Deafness craniofacial syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease type IE (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Lowry Yong syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Upper limb defect with eye and ear abnormalities syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Deafness with cataract and skeletal anomaly syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Tungland Bellman syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Deafness with malformation of ear and facial palsy syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Abruzzo Erickson syndrome est un(e) (attribut) False Auditory system hereditary disorder Inferred relationship Some
Deafness and hypogonadism syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Congenital cataract with ataxia and deafness syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Stapes ankylosis with broad thumb and toe syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
neuropathie héréditaire sensitive et autonomique liée à l'X avec surdité est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some

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