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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
2990677018 Congenital sensorineural hearing loss (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
5441481000241113 perte auditive neurosensorielle congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

65 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 Existential restriction modifier (core metadata concept)
Congenital sensorineural hearing loss (disorder) Finding site Structure of auditory system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital sensorineural hearing loss (disorder) Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital sensorineural hearing loss (disorder) Is a Congenital hearing disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital sensorineural hearing loss (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital sensorineural hearing loss (disorder) Interprets entité observable fonctionnelle false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital sensorineural hearing loss (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital sensorineural hearing loss (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Retinitis pigmentosa-deafness syndrome (disorder) Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Keipert syndrome (disorder) Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Oculootodental syndrome Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mandibular hypoplasia, deafness, progeroid syndrome Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit Is a False Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with onychodystrophy syndrome Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, hearing loss, severe developmental delay syndrome Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Temtamy preaxial brachydactyly syndrome (disorder) Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Renal caliceal diverticuli and deafness syndrome (disorder) Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome type 3 (disorder) Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Rubella deafness Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, nephritis, deafness syndrome Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Postlingual non-syndromic genetic deafness Is a False Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Myoclonus, cerebellar ataxia, deafness syndrome Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Prelingual non-syndromic genetic deafness (disorder) Is a False Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, small bowel diverticulosis, neuropathy syndrome Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic, neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy). Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Choroideremia with deafness and obesity syndrome Is a False Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital mixed conductive and sensorineural hearing loss Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder) Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pendred's syndrome Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Wildervanck syndrome (disorder) Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deafness-oligodontia syndrome is characterized by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive. Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder) Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Albinism-deafness syndrome of Tietz (disorder) Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Craniofacial deafness hand syndrome (disorder) Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Myhre syndrome Is a False Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness (disorder) Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Jervell and Lange-Nielsen syndrome (disorder) Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Bartter syndrome type 4 (disorder) Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mutilating keratoderma Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Albinism with deafness syndrome Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Split-foot malformation, mesoaxial polydactyly syndrome Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Bosley Salih Alorainy syndrome (disorder) Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deafness and intellectual disability Martin Probst type syndrome (disorder) Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract with deafness and hypogonadism syndrome Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pili torti-deafness syndrome Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cochleovestibular malformation (disorder) Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Waardenburg syndrome type 3 (disorder) Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial disease characterized by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts. Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mondini defect (disorder) Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare primary bone dysplasia characterised by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) Is a True Congenital sensorineural hearing loss (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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