FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.7  |  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

207 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
Myoclonus, cerebellar ataxia, deafness syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Deafness, vitiligo, achalasia syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Wolfram-like syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Retinitis pigmentosa-deafness syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Is a False Auditory system hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Is a False 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 False Auditory system hereditary disorder Inferred relationship Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Keipert syndrome (disorder) Is a False 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 (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Branchiootic syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Waardenburg syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Alstrom syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Otopalatodigital syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Alport syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a False Auditory system hereditary disorder Inferred relationship Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Sinoatrial node dysfunction and deafness Is a False Auditory system hereditary disorder Inferred relationship Some
Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Ocular albinism with congenital sensorineural deafness Is a False Auditory system hereditary disorder Inferred relationship Some
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Chudley McCullough syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Flat face, microstomia, ear anomaly syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Deafness with onychodystrophy syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Congenital cataract, hearing loss, severe developmental delay syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Temtamy preaxial brachydactyly syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Autosomal dominant aplasia and myelodysplasia (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Gemignani syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Stickler syndrome type 3 (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Hypotrichosis and deafness syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Oto-palato-digital syndrome, type I Is a False Auditory system hereditary disorder Inferred relationship Some
Oto-palato-digital syndrome, type II Is a True Auditory system hereditary disorder Inferred relationship Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Is a False Auditory system hereditary disorder Inferred relationship Some
Pendred's syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Arts syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Inherited cochlear degeneration Is a True Auditory system hereditary disorder Inferred relationship Some
Hystrix ichthyosis with deafness Is a False Auditory system hereditary disorder Inferred relationship Some
Multiple epiphyseal dysplasia Beighton type (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Johnson neuroectodermal syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Hereditary hearing loss Is a True Auditory system hereditary disorder Inferred relationship Some
Melnick-Fraser syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Renal tubular acidosis with progressive nerve deafness Is a False Auditory system hereditary disorder Inferred relationship Some
X-linked spinocerebellar ataxia type 3 (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Keratitis ichthyosis and deafness syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
MEGDEL syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Familial amyloid nephropathy with urticaria AND deafness Is a False Auditory system hereditary disorder Inferred relationship Some
Albinism-deafness syndrome of Tietz (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Wolfram syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Craniofacial deafness hand syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Emberger syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Progressive bulbar palsy with sensorineural deafness (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Myhre syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Maternally inherited diabetes and deafness (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction Is a False Auditory system hereditary disorder Inferred relationship Some
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Bartter syndrome type 4 Is a False Auditory system hereditary disorder Inferred relationship Some
Beta-D-mannosidosis Is a False Auditory system hereditary disorder Inferred relationship Some
Mutilating keratoderma Is a False Auditory system hereditary disorder Inferred relationship Some
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Split-foot malformation, mesoaxial polydactyly syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
X-linked sensorineural hearing loss Is a False Auditory system hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 25 (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Autosomal dominant spastic paraplegia type 29 (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Auditory neuropathy, optic atrophy syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
PCNA-related progressive neurodegenerative photosensitivity syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Duane retraction syndrome with congenital deafness Is a False Auditory system hereditary disorder Inferred relationship Some
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Is a True Auditory system hereditary disorder Inferred relationship Some
Otodental syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Waardenburg Shah syndrome Is a False Auditory system hereditary disorder Inferred relationship Some
Type 1 diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder) Is a False Auditory system hereditary disorder Inferred relationship Some
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect Is a False Auditory system hereditary disorder Inferred relationship Some
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Is a True Auditory system hereditary disorder Inferred relationship Some

Start Page 2 of 3 End

This concept is not in any reference sets

Back to Start