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232333009: Hearing loss associated with syndrome (disorder)

Status: current, Not 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
348083015 Hearing loss associated with syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
348084014 Syndromal deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
620384018 Hearing loss associated with syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6252071000241114 perte d'audition associée à un syndrome fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6252081000241111 surdité syndromique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6252091000241113 perte auditive associée à un syndrome fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3430851001000112 Schwerhörigkeit, syndromale, genetisch bedingte de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

111 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hearing loss associated with syndrome Is a Disorder of ear false Inferred relationship Some
Hearing loss associated with syndrome Finding site Ear structure false Inferred relationship Some 1
Hearing loss associated with syndrome Finding site Structure of auditory system (body structure) true Inferred relationship Some 1
Hearing loss associated with syndrome Is a Hearing loss true Inferred relationship Some
Hearing loss associated with syndrome Interprets Hearing true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare neurologic disease characterized by the presence of Duane retraction syndrome (a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome. Is a True Hearing loss associated with syndrome Inferred relationship Some
A rare genetic disease characterized by microcephaly, global developmental delay, intellectual disability, abnormal muscle tone, and sensorineural hearing impairment. Additional variable manifestations include epilepsy, cortical visual impairment, gastrointestinal disturbances, growth restriction, scoliosis, as well as immunodeficiency and thrombocytopenia. Brain imaging may show cerebral atrophy, thin corpus callosum, and hypomyelination. Is a True Hearing loss associated with syndrome Inferred relationship Some
A rare congenital ectodermal disorder characterised by vascularising keratitis, hyperkeratotic skin lesions and hearing loss. Is a True Hearing loss associated with syndrome Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay/intellectual disability are variably reported. Is a True Hearing loss associated with syndrome Inferred relationship Some
A rare primary bone dysplasia characterized 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 Hearing loss associated with syndrome Inferred relationship Some
A rare genetic neurological disorder characterised by congenital or early-onset sensorineural deafness and adult-onset progressive leucoencephalopathy. Progressive cognitive impairment and behavioural abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported. Is a True Hearing loss associated with syndrome Inferred relationship Some
A rare genetic neurological disorder with characteristics of childhood to adolescence onset of progressive demyelination occurring in episodes, sensorimotor polyneuropathy, and hearing loss. Disease progression and severity is variable. In general, in an increasing and decreasing course, patients eventually develop respiratory insufficiency, loss of motor skills and ambulation, ataxia, and cognitive decline. Vision problems and skin rashes are commonly reported. Is a True Hearing loss associated with syndrome Inferred relationship Some
A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported. Is a True Hearing loss associated with syndrome Inferred relationship Some

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