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700453005: Congenital sensorineural hearing loss (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
2990677018 Congenital sensorineural hearing loss (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
2990751016 Congenital sensorineural hearing loss en Synonym Active Entire term case insensitive SNOMED CT core module
3758775014 Congenital sensorineural deafness en Synonym Active Entire term case insensitive SNOMED CT core module

61 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital sensorineural hearing loss Is a Sensorineural hearing loss true Inferred relationship Existential restriction modifier
Congenital sensorineural hearing loss Finding site Structure of auditory system false Inferred relationship Existential restriction modifier
Congenital sensorineural hearing loss Interprets Hearing, function true Inferred relationship Existential restriction modifier 2
Congenital sensorineural hearing loss Is a Congenital hearing disorder true Inferred relationship Existential restriction modifier
Congenital sensorineural hearing loss Occurrence Congenital false Inferred relationship Existential restriction modifier
Congenital sensorineural hearing loss Interprets Functional observable false Inferred relationship Existential restriction modifier
Congenital sensorineural hearing loss Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Congenital sensorineural hearing loss Finding site Structure of auditory system true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Retinitis pigmentosa-deafness syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Keipert syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Oculootodental syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Mandibular hypoplasia, deafness, progeroid syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Ocular albinism with congenital sensorineural deafness Is a False Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Deafness with onychodystrophy syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Congenital cataract, hearing loss, severe developmental delay syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Temtamy preaxial brachydactyly syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Renal caliceal diverticuli and deafness syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Stickler syndrome type 3 Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Rubella deafness Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Spastic paraplegia, nephritis, deafness syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Postlingual non-syndromic genetic deafness Is a False Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Myoclonus, cerebellar ataxia, deafness syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Prelingual non-syndromic genetic deafness Is a False Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Deafness, small bowel diverticulosis, neuropathy syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Choroideremia with deafness and obesity syndrome Is a False Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Congenital mixed conductive and sensorineural hearing loss Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Pendred's syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Wildervanck syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Deafness and oligodontia syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Albinism-deafness syndrome of Tietz Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Craniofacial deafness hand syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Myhre syndrome Is a False Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Jervell and Lange-Nielsen syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Bartter syndrome type 4 Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Mutilating keratoderma Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Albinism with deafness syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Split-foot malformation, mesoaxial polydactyly syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Bosley Salih Alorainy syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Cleft palate and cleft lip with deafness and sacral lipoma syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Deafness and intellectual disability Martin Probst type syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Congenital cataract with deafness and hypogonadism syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Deafness with epiphyseal dysplasia and short stature syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Deafness with skeletal dysplasia and lip granuloma syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Pili torti-deafness syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Congenital cochleovestibular malformation Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Waardenburg syndrome type 3 Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Waardenburg Shah syndrome Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect Is a True Congenital sensorineural hearing loss Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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