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, 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
Tungland Bellman syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Sellars Beighton syndrome 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 Is a True Auditory system hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia MacDermot type Is a True Auditory system hereditary disorder Inferred relationship Some
Congenital cataract with ataxia and deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Stapes ankylosis with broad thumb and toe syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
X-linked hereditary sensory and autonomic neuropathy with deafness Is a True Auditory system hereditary disorder Inferred relationship Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Cardiospondylocarpofacial syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Arthrogryposis-like hand anomaly and sensorineural deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Ataxia with deafness and intellectual disability syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Athabaskan brainstem dysgenesis syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Bosley Salih Alorainy syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
CHIME syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Cooper Jabs syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Corneal dystrophy and perceptive deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a True Auditory system hereditary disorder Inferred relationship Some
Fountain syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Choroideraemia with deafness and obesity syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Fine Lubinsky syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Deaf blind hypopigmentation syndrome Yemenite type Is a True Auditory system hereditary disorder Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Developmental malformation, deafness, dystonia syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Branchiogenic deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Scalp, ear, nipple syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
DOORS syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
High myopia and sensorineural deafness Is a True Auditory system hereditary disorder Inferred relationship Some
Hypertelorism with microtia and facial clefting syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Isotretinoin-like syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
MEDNIK syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
IVIC syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Ocular albinism with late-onset sensorineural deafness Is a False Auditory system hereditary disorder Inferred relationship Some
Albinism with deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Congenital hereditary facial paralysis with variable hearing loss syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Hennekam Beemer syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome 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 Is a True Auditory system hereditary disorder Inferred relationship Some
Gingival fibromatosis with progressive deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Thickened earlobe with conductive deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Palmoplantar keratoderma with deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Ramos Arroyo syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Peripheral neuropathy with sensorineural hearing impairment syndrome 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 greying, essential tremor syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Sensorineural deafness with dilated cardiomyopathy syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Nephrosis, deafness, urinary tract, digital malformation syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Nephropathy, deafness, hyperparathyroidism syndrome 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 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 Is a True Auditory system hereditary disorder Inferred relationship Some
Cryptomicrotia, brachydactyly, excess fingertip arch syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Pfeiffer Palm Teller syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Coxoauricular syndrome 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
Deafness, vitiligo, achalasia syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Deafness, small bowel diverticulosis, neuropathy syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Wolfram-like syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Retinitis pigmentosa-deafness syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Is a True Auditory system hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Cleft palate, large ears, small head syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Facial dysmorphism, conductive hearing loss, heart defect syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Keipert syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Oculoauricular syndrome Schorderet type Is a True Auditory system hereditary disorder Inferred relationship Some
Postlingual non-syndromic genetic deafness Is a False Auditory system hereditary disorder Inferred relationship Some
Prelingual non-syndromic genetic deafness Is a False Auditory system hereditary disorder Inferred relationship Some
Branchiootic syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Waardenburg's syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Alstrom syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Otopalatodigital syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Alport syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a True Auditory system hereditary disorder Inferred relationship Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Sinoatrial node dysfunction and deafness Is a True Auditory system hereditary disorder Inferred relationship Some

Start Page 2 of 3 End

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start