47078008: Hearing, function (observable entity)

SNOMED CT Concept\Observable entity (observable entity)\Any function or property that is not mainly morphologic or structural, including both measurable and observable features and physiologic actions\Nervous system function\Sensory function\Special sensory functions\Hearing

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hearing	Is a	Special sensory functions	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.	Interprets	True	Hearing	Inferred relationship	Some	6
Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.	Interprets	True	Hearing	Inferred relationship	Some	3
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.	Interprets	True	Hearing	Inferred relationship	Some	5
A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia.	Interprets	True	Hearing	Inferred relationship	Some	3
A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993.	Interprets	False	Hearing	Inferred relationship	Some	5
This rare neurologic disease is a slowly progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.	Interprets	True	Hearing	Inferred relationship	Some	4
Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability.	Interprets	True	Hearing	Inferred relationship	Some	3
A rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.	Interprets	True	Hearing	Inferred relationship	Some	5
A rare, genetic, multiple congenital anomalies syndrome characterized by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962.	Interprets	True	Hearing	Inferred relationship	Some	3
Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.	Interprets	True	Hearing	Inferred relationship	Some	5
A rare genetic neurological disorder characterized by early-onset progressive leukoencephalopathy, severe developmental delay, early-onset or congenital deafness (only few cases reported without hearing loss), and visual impairment. All patients manifest calcifications in brain and spinal cord. Cognitive impairment, seizures, hypotonia, spastic tetraplegia or quadriplegia are observed in the majority of the patients. Variable features may include microcephaly and anemia.	Interprets	True	Hearing	Inferred relationship	Some	3
A rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.	Interprets	True	Hearing	Inferred relationship	Some	5
Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.	Interprets	True	Hearing	Inferred relationship	Some	4
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Interprets	False	Hearing	Inferred relationship	Some	2
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).	Interprets	True	Hearing	Inferred relationship	Some	6
A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases.	Interprets	True	Hearing	Inferred relationship	Some	4
Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.	Interprets	True	Hearing	Inferred relationship	Some	2
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.	Interprets	True	Hearing	Inferred relationship	Some	6
Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (including cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).	Interprets	True	Hearing	Inferred relationship	Some	3
Peripheral demyelinating neuropathy-central dysmyelinating leucodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterised by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.	Interprets	False	Hearing	Inferred relationship	Some	6
Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.	Interprets	True	Hearing	Inferred relationship	Some	4
A rare developmental defect during embryogenesis syndrome characterized by hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported.	Interprets	True	Hearing	Inferred relationship	Some	4
Wildervanck syndrome	Interprets	True	Hearing	Inferred relationship	Some	6
Auditory synaptopathy (disorder)	Interprets	True	Hearing	Inferred relationship	Some	3
Hereditary hearing loss	Interprets	True	Hearing	Inferred relationship	Some	2
Stapes fixation (stapediovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease).	Interprets	True	Hearing	Inferred relationship	Some	3
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.	Interprets	True	Hearing	Inferred relationship	Some	4
Melnick-Fraser syndrome	Interprets	True	Hearing	Inferred relationship	Some	4
Renal tubular acidosis with progressive nerve deafness	Interprets	True	Hearing	Inferred relationship	Some	3
X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described in one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.	Interprets	True	Hearing	Inferred relationship	Some	4
A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.	Interprets	True	Hearing	Inferred relationship	Some	3
Senter syndrome	Interprets	False	Hearing	Inferred relationship	Some	5
A rare congenital ectodermal disorder characterised by vascularising keratitis, hyperkeratotic skin lesions and hearing loss.	Interprets	False	Hearing	Inferred relationship	Some	1
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder)	Interprets	True	Hearing	Inferred relationship	Some	5
MEGDEL syndrome is a rare, genetic, neurometabolic disorder characterised by neonatal hypoglycaemia, features of sepsis that are not linked to infection, development of feeding problems, failure to thrive, transient liver dysfunction, and truncal hypotonia followed by dystonia and spasticity which results in psychomotor development arrest and/or regression. Progressive sensorineural deafness, intellectual disability and absent speech are also associated. Laboratory tests demonstrate 3-methylglutaconic aciduria and temporary elevated serum lactate and transaminases.	Interprets	True	Hearing	Inferred relationship	Some	3
Familial amyloid nephropathy with urticaria AND deafness	Interprets	True	Hearing	Inferred relationship	Some	3
Albinism-deafness syndrome of Tietz (disorder)	Interprets	True	Hearing	Inferred relationship	Some	3
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.	Interprets	True	Hearing	Inferred relationship	Some	5
A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986.	Interprets	True	Hearing	Inferred relationship	Some	6
Craniofacial deafness hand syndrome (disorder)	Interprets	True	Hearing	Inferred relationship	Some	4
Emberger syndrome	Interprets	False	Hearing	Inferred relationship	Some	3
Progressive bulbar palsy with sensorineural deafness (disorder)	Interprets	True	Hearing	Inferred relationship	Some	3
Myhre syndrome	Interprets	True	Hearing	Inferred relationship	Some	3
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia	Interprets	True	Hearing	Inferred relationship	Some	7
Auditory dysfunction	Interprets	True	Hearing	Inferred relationship	Some	2
Maternally inherited diabetes and deafness (disorder)	Interprets	True	Hearing	Inferred relationship	Some	3
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction	Interprets	True	Hearing	Inferred relationship	Some	6
Normal auditory tuning fork test (finding)	Interprets	True	Hearing	Inferred relationship	Some	1
This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.	Interprets	True	Hearing	Inferred relationship	Some	4
A rare peripheral neuropathy characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.	Interprets	True	Hearing	Inferred relationship	Some	5
Bartter syndrome type 4a (disorder)	Interprets	True	Hearing	Inferred relationship	Some	3
Bartter syndrome type 4	Interprets	True	Hearing	Inferred relationship	Some	4
Tonal tinnitus	Interprets	True	Hearing	Inferred relationship	Some	1
Partial transitory deafness (disorder)	Interprets	True	Hearing	Inferred relationship	Some	2
Total transitory deafness	Interprets	True	Hearing	Inferred relationship	Some	2
Transitory deafness	Interprets	True	Hearing	Inferred relationship	Some	2
Neural hearing loss of right ear	Interprets	True	Hearing	Inferred relationship	Some	3
Neural hearing loss of left ear (disorder)	Interprets	True	Hearing	Inferred relationship	Some	3
Conductive hearing loss of left ear	Interprets	True	Hearing	Inferred relationship	Some	2
Conductive hearing loss of right ear (disorder)	Interprets	True	Hearing	Inferred relationship	Some	2
Waardenburg syndrome type 3	Interprets	False	Hearing	Inferred relationship	Some	3
Retinitis pigmentosa-deafness syndrome type 3 (disorder)	Interprets	True	Hearing	Inferred relationship	Some	3
A subtype of Waardenburg syndrome (WS) with characteristics of congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. Caused by a heterozygous mutation in the paired box-containing PAX3 gene on chromosome 2q36.1. In the majority of cases, WS1 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation.	Interprets	True	Hearing	Inferred relationship	Some	3
Conductive hearing loss of left ear with normal hearing on right side	Interprets	True	Hearing	Inferred relationship	Some	2
Conductive hearing loss of right ear with normal hearing on left side (disorder)	Interprets	True	Hearing	Inferred relationship	Some	2
Sensorineural hearing loss of right ear with normal hearing on left side (disorder)	Interprets	True	Hearing	Inferred relationship	Some	2
Sensorineural hearing loss of left ear with normal hearing on right side	Interprets	True	Hearing	Inferred relationship	Some	2
Mixed conductive and sensorineural hearing loss of right ear with normal hearing on left side (disorder)	Interprets	True	Hearing	Inferred relationship	Some	2
Mixed conductive and sensorineural hearing loss of left ear with normal hearing on right side	Interprets	True	Hearing	Inferred relationship	Some	2
An autosomal dominant subtype of Waardenburg syndrome (WS) with characteristics of varying degrees of deafness and pigmentation anomalies of eyes, hair and skin but without dystopia canthorum. The disease is genetically very heterogeneous, mutations have been found in MITF (3p14-p13; subtype designated as WS2A), SNAI2 (8q11.21; WS2D), and SOX10 (22q13.1; WS2E) genes. Furthermore WS2 loci have been mapped to chromosome 1p21-p13.3 (subtype designated as WS2B) and to chromosome 8p23 (designated as WS2C). Digenic inheritance of MITF mutation in combination a TYR mutation (and/or the TYRR402Q hypomorphic allele) has been reported in two families with WS2 and ocular albinism. In the majority of cases, WS2 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation.	Interprets	True	Hearing	Inferred relationship	Some	3
Sensorineural hearing loss of right ear (disorder)	Interprets	True	Hearing	Inferred relationship	Some	2
Sensorineural hearing loss of left ear (disorder)	Interprets	True	Hearing	Inferred relationship	Some	2
Sensorineural deafness due to late congenital syphilis	Interprets	True	Hearing	Inferred relationship	Some	2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others.	Interprets	True	Hearing	Inferred relationship	Some	4
A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993.	Interprets	True	Hearing	Inferred relationship	Some	6
A very rare lysosomal storage disease with characteristics of developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.	Interprets	True	Hearing	Inferred relationship	Some	2
An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.	Interprets	True	Hearing	Inferred relationship	Some	5
Mutilating keratoderma	Interprets	True	Hearing	Inferred relationship	Some	4
A rare diffuse, mutilating, hereditary palmoplantar keratoderma characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.	Interprets	True	Hearing	Inferred relationship	Some	4
A rare syndromic genetic deafness characterized by congenital hearing loss, atresia or stenosis of the external auditory canal, dilated internal auditory canal, malformation of the inner ear (incomplete separation of the cochlea basal turn from the fundus of the internal auditory canal), in combination with abnormal auricular shape and facial dysmorphism (including thick eyebrows, ptosis, broad nasal root, and telecanthus). Intelligence is normal and developmental delay is absent.	Interprets	True	Hearing	Inferred relationship	Some	3
A rare, genetic neurological disorder characterized by early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus.	Interprets	True	Hearing	Inferred relationship	Some	2
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Interprets	True	Hearing	Inferred relationship	Some	1
A rare genetic disease characterised by progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency.	Interprets	True	Hearing	Inferred relationship	Some	1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with mild intellectual disability, short stature, facial dysmorphism (such as sparse hair, high forehead, deep-set eyes, short and upslanting palpebral fissures, short nose, anteverted nares, wide nasal base with broad nasal tip and broad columella, long philtrum, thin upper lip, and low-set, posteriorly rotated ears), and variable onset of sensorineural hearing loss and retinitis pigmentosa. Additional features are other ocular anomalies, abnormalities of the fingers, hypothyroidism, and signs of premature aging. Brain imaging shows cerebellar atrophy and dysmyelination.	Interprets	True	Hearing	Inferred relationship	Some	3
A rare genetic syndrome with limb malformations as a major feature characterized by unilateral or bilateral split-foot malformation, nail abnormalities of the hand, and bilateral sensorineural hearing impairment. Mesoaxial polydactyly of the foot has also been described.	Interprets	True	Hearing	Inferred relationship	Some	5
Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.	Interprets	True	Hearing	Inferred relationship	Some	3
A rare metabolic myopathy presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.	Interprets	True	Hearing	Inferred relationship	Some	1
A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.	Interprets	True	Hearing	Inferred relationship	Some	2
Deafness-craniofacial syndrome is characterized by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.	Interprets	True	Hearing	Inferred relationship	Some	3
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Interprets	True	Hearing	Inferred relationship	Some	3
Pili torti-deafness syndrome	Interprets	True	Hearing	Inferred relationship	Some	2
X-linked sensorineural hearing loss	Interprets	True	Hearing	Inferred relationship	Some	1
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.	Interprets	True	Hearing	Inferred relationship	Some	1
Auditory perception function (observable entity)	Is a	True	Hearing	Inferred relationship	Some
Maternal perinatal sensorineural hearing loss	Interprets	True	Hearing	Inferred relationship	Some	2
Neonatal sensorineural hearing loss	Interprets	True	Hearing	Inferred relationship	Some	2
Fetal sensorineural hearing loss	Interprets	True	Hearing	Inferred relationship	Some	3
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.	Interprets	True	Hearing	Inferred relationship	Some	4
Non-syndromic mitochondrial sensorineural deafness (disorder)	Interprets	True	Hearing	Inferred relationship	Some	3
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.	Interprets	True	Hearing	Inferred relationship	Some	2
A rare autosomal recessive syndromic cerebellar ataxia characterized by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy.	Interprets	True	Hearing	Inferred relationship	Some	3

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Id	Description	Lang	Type	Status	Case?	Module
78477019	Audition	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
78480018	Hearing	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
494748018	Perception of sound	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
494749014	Auditory function	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1203314017	Hearing, function (observable entity)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2670916014	Hearing, function	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
357321000195119	udito	it	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
12821000077117	audition	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
22201001000112	Hörfunktion	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
22591001000117	Auditorische Funktion	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
22601001000110	Akustische Funktion	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
22611001000113	Aurale Funktion	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
22621001000115	Hörvermögen	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
22631001000117	Klangwahrnehmung	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1295121001000118	Hören	de	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1295131001000115	Gehör	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1972221001000112	Geräuschwahrnehmung	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module