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700453005: Congenital sensorineural hearing loss (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
2990677018 Congenital sensorineural hearing loss (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2990751016 Congenital sensorineural hearing loss en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3758775014 Congenital sensorineural deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5441481000241113 perte auditive neurosensorielle congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

62 descendants. Search Descendants:

Expanded Value Set

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

This concept is not in any reference sets

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