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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
neuropathie héréditaire sensitive et autonomique liée à l'X avec surdité est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Distal arthrogryposis type 6 (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Ataxia with deafness and intellectual disability syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Athabaskan brainstem dysgenesis syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
syndrome d'athérosclérose, surdité, épilepsie, diabète, néphropathie est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Bosley Salih Alorainy syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) est un(e) (attribut) False Auditory system hereditary disorder Inferred relationship Some
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Choroideremia with deafness and obesity syndrome (disorder) est un(e) (attribut) False Auditory system hereditary disorder Inferred relationship Some
Fine Lubinsky syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
surdité-cécité-hypopigmentation est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome (disorder) est un(e) (attribut) False Auditory system hereditary disorder Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Developmental malformation, deafness, dystonia syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Branchiogenic deafness syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Scalp, ear, nipple syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) est un(e) (attribut) False Auditory system hereditary disorder Inferred relationship Some
Deafness and myopia syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Hypertelorism with microtia and facial clefting syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Isotretinoin embryopathy-like syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Oculootoradial syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Ocular albinism with late-onset sensorineural deafness (disorder) est un(e) (attribut) False Auditory system hereditary disorder Inferred relationship Some
Albinism with deafness syndrome (disorder) est un(e) (attribut) False Auditory system hereditary disorder Inferred relationship Some
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
syndrome d'agénésie du corps calleux-microcéphalie-petite taille est un(e) (attribut) False Auditory system hereditary disorder Inferred relationship Some
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) est un(e) (attribut) False Auditory system hereditary disorder Inferred relationship Some
Severe X-linked intellectual disability Gustavson type (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
syndrome de fibromatose gingivale-surdité est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Thickened earlobe with conductive deafness syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
syndrome de kératodermie palmoplantaire-surdité est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) est un(e) (attribut) False Auditory system hereditary disorder Inferred relationship Some
Ramos Arroyo syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Sensorineural hearing loss, early graying, essential tremor syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Sensorineural deafness with dilated cardiomyopathy syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Hypospadias, hypertelorism, coloboma, deafness syndrome (disorder) est un(e) (attribut) False Auditory system hereditary disorder Inferred relationship Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Cryptomicrotia brachydactyly syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Coxoauricular syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
syndrome de dysplasie ectodermique-surdité neurosensorielle est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Dysmorphism, short stature, deafness, disorder of sex development syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Myoclonus, cerebellar ataxia, deafness syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Deafness, vitiligo, achalasia syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Wolfram-like syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
syndrome associant rétinite pigmentaire et surdité est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Cleft palate, large ears, small head syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Keipert syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
syndrome oculo-auriculaire type Schorderet est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Postlingual non-syndromic genetic deafness est un(e) (attribut) False Auditory system hereditary disorder Inferred relationship Some
Prelingual non-syndromic genetic deafness (disorder) est un(e) (attribut) False Auditory system hereditary disorder Inferred relationship Some
Branchiootic syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
syndrome de Waardenburg (trouble) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Alstrom syndrome est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Otopalatodigital syndrome est un(e) (attribut) False Auditory system hereditary disorder Inferred relationship Some
syndrome d'Alport est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Congenital deafness with labyrinthine aplasia, microtia and microdontia est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder) est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
Sinoatrial node dysfunction and deafness est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some
syndrome d'insuffisance hypophysaire multiple non acquise-surdité neurosensorielle-anomalies de la colonne vertébrale est un(e) (attribut) True Auditory system hereditary disorder Inferred relationship Some

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