FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  FHIR Version n/a  User: [n/a]

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
5228841000241111 anomalies héréditaires du système auditif fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

199 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
Gouty tophus of pinna Is a False Auditory system hereditary disorder Inferred relationship Some
Neurofibromatosis type 2 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
Sensorineural deafness and male infertility Is a True Auditory system hereditary disorder Inferred relationship Some
Deafness-dystonia-optic neuronopathy syndrome (disorder) 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 (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Cochleosaccular degeneration and cataract syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Progressive deafness with stapes fixation (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Spastic paraparesis co-occurrent with deafness (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Richards-Rundle syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Deafness craniofacial syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease type IE (disorder) 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 (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Deafness with cataract and skeletal anomaly syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Tungland Bellman syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Deafness with malformation of ear and facial palsy syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Abruzzo Erickson syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Deafness and hypogonadism syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Congenital cataract with ataxia and deafness syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Stapes ankylosis with broad thumb and toe syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Distal arthrogryposis type 6 (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Ataxia with deafness and intellectual disability syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Athabaskan brainstem dysgenesis syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Bosley Salih Alorainy syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Choroideremia with deafness and obesity syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Fine Lubinsky syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Deaf blind hypopigmentation syndrome Yemenite type (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Developmental malformation, deafness, dystonia syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Branchiogenic deafness syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Scalp, ear, nipple syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Deafness and myopia syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Hypertelorism with microtia and facial clefting syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Isotretinoin embryopathy-like syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Oculootoradial syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Ocular albinism with late-onset sensorineural deafness (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Albinism with deafness syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Severe X-linked intellectual disability Gustavson type (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Gingival fibromatosis with progressive deafness syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Thickened earlobe with conductive deafness syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Palmoplantar keratoderma with deafness syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Ramos Arroyo syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Sensorineural hearing loss, early graying, essential tremor syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Sensorineural deafness with dilated cardiomyopathy syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Hypospadias, hypertelorism, coloboma, deafness syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Cryptomicrotia brachydactyly syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Coxoauricular syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Ectodermal dysplasia and sensorineural deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Dysmorphism, short stature, deafness, disorder of sex development syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Myoclonus, cerebellar ataxia, deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Some

Page 1 of 3 Next End

This concept is not in any reference sets

Back to Start