FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

60700002: Sensorineural hearing loss (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
100850012 Sensorineural hearing loss en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
100854015 Sensorineural deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
100855019 Neurosensory deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
100856018 Perceptive hearing loss en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
100857010 Perceptive deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1232121016 SND - Sensorineural deafness en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1232122011 Sensory-neural deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1232123018 Sensory-neural hearing loss en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1232124012 SNHL - Sensorineural hearing loss en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1232125013 PD - Perceptive deafness en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2572238011 Sensorineural hearing loss (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
214761000172113 perte d'audition neursensorielle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
265521000172113 surdité neurosensorielle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
307621000077116 perte d'audition neurosensorielle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
451221000172116 perte auditive neurosensorielle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
442051000274115 Sensorineuraler Hörverlust de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

183 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Sensorineural hearing loss Is a Hearing loss true Inferred relationship Some
Sensorineural hearing loss Interprets Hearing false Inferred relationship Some
Sensorineural hearing loss Finding site Structure of nervous system (body structure) false Inferred relationship Some
Sensorineural hearing loss Finding site Inner ear structure false Inferred relationship Some
Sensorineural hearing loss Interprets Ability to hear false Inferred relationship Some
Sensorineural hearing loss Interprets entité observable fonctionnelle false Inferred relationship Some
Sensorineural hearing loss Is a Disorder of inner ear false Inferred relationship Some
Sensorineural hearing loss Finding site Structure of auditory system (body structure) true Inferred relationship Some 2
Sensorineural hearing loss Interprets Hearing true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia. Is a True Sensorineural hearing loss Inferred relationship Some
A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. Is a True Sensorineural hearing loss Inferred relationship Some
Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. Is a True Sensorineural hearing loss Inferred relationship Some
Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterized by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly. Is a True Sensorineural hearing loss Inferred relationship Some
Maternal perinatal sensorineural hearing loss Is a True Sensorineural hearing loss Inferred relationship Some
Neonatal sensorineural hearing loss Is a True Sensorineural hearing loss Inferred relationship Some
Fetal sensorineural hearing loss Is a True Sensorineural hearing loss Inferred relationship Some
A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. Is a True Sensorineural hearing loss Inferred relationship Some
Non-syndromic mitochondrial sensorineural deafness (disorder) Is a True Sensorineural hearing loss Inferred relationship Some
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995. Is a True Sensorineural hearing loss Inferred relationship Some
A rare mitochondrial disease characterized by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging. Is a True Sensorineural hearing loss Inferred relationship Some
A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, and severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing, proptosis, epicanthal folds, short nose, flat nasal bridge, anteverted nares, midfacial retrusion, and cleft palate. Is a True Sensorineural hearing loss Inferred relationship Some
A rare genetic disease characterized by severe progressive sensorineural hearing loss and progressive cerebellar signs including gait ataxia, action tremor, dysmetria, dysdiadochokinesis, dysarthria, and nystagmus. Absence of deep tendon reflexes has also been reported. Age of onset is between infancy and adolescence. Brain imaging may show variable cerebellar atrophy in some patients. Is a True Sensorineural hearing loss Inferred relationship Some
A rare genetic disease characterized by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalized cerebral atrophy. Is a True Sensorineural hearing loss Inferred relationship Some
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients. Is a True Sensorineural hearing loss Inferred relationship Some
High frequency sensorineural hearing loss (disorder) Is a True Sensorineural hearing loss Inferred relationship Some
Low frequency sensorineural hearing loss Is a True Sensorineural hearing loss 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 Sensorineural hearing loss Inferred relationship Some
A rare primary bone dysplasia characterised by severe spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability and Leber congenital amaurosis. Brain anomalies (including delayed myelinisation, white matter hyperintensity, hypomyelinating leucoencephalopathy, cerebral and cerebellar hypoplasia/atrophy), hypotonia, ataxia, dysmorphic facial features (including deep nasal bridge and large mouth) and irregular dentition were also reported. Is a True Sensorineural hearing loss Inferred relationship Some

Start Page 2 of 2

This concept is not in any reference sets

Back to Start