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
A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.	Interprets	True	Hearing	Inferred relationship	Some	4
Postlingual non-syndromic genetic deafness	Interprets	False	Hearing	Inferred relationship	Some	2
Prelingual non-syndromic genetic deafness (disorder)	Interprets	False	Hearing	Inferred relationship	Some	2
Dysmorphism-conductive hearing loss-heart defect syndrome is a rare, multiple congenital anomalies syndrome characterized by a distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability.	Interprets	True	Hearing	Inferred relationship	Some	2
Total visual and total hearing impairment (disorder)	Interprets	True	Hearing	Inferred relationship	Some	2
Alstrom syndrome	Interprets	True	Hearing	Inferred relationship	Some	4
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (including epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (including abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.	Interprets	True	Hearing	Inferred relationship	Some	5
Birth trauma deafness	Interprets	True	Hearing	Inferred relationship	Some	4
Autoimmune sensorineural hearing loss (disorder)	Interprets	True	Hearing	Inferred relationship	Some	3
Postoperative profound sensorineural hearing loss	Interprets	True	Hearing	Inferred relationship	Some	2
Metabolic presbycusis	Interprets	True	Hearing	Inferred relationship	Some	2
Mechanical presbycusis (disorder)	Interprets	True	Hearing	Inferred relationship	Some	2
Acquired sensorineural hearing loss (disorder)	Interprets	True	Hearing	Inferred relationship	Some	2
Ototoxicity - deafness	Interprets	True	Hearing	Inferred relationship	Some	2
Presbycusis	Interprets	True	Hearing	Inferred relationship	Some	2
Postnatal acquired sensorineural hearing loss	Interprets	True	Hearing	Inferred relationship	Some	2
Drug ototoxicity - deafness	Interprets	True	Hearing	Inferred relationship	Some	2
Alport syndrome autosomal recessive (disorder)	Interprets	True	Hearing	Inferred relationship	Some	2
A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.	Interprets	True	Hearing	Inferred relationship	Some	3
Alport syndrome X-linked (disorder)	Interprets	True	Hearing	Inferred relationship	Some	2
Alport syndrome autosomal dominant (disorder)	Interprets	True	Hearing	Inferred relationship	Some	2
A rare constitutional hemolytic anemia that is characterized by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.	Interprets	False	Hearing	Inferred relationship	Some	1
A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.	Interprets	True	Hearing	Inferred relationship	Some	1
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).	Interprets	True	Hearing	Inferred relationship	Some	4
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.	Interprets	True	Hearing	Inferred relationship	Some	5
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.	Interprets	True	Hearing	Inferred relationship	Some	4
Robinson nail dystrophy-deafness syndrome	Interprets	True	Hearing	Inferred relationship	Some	4
Hearing loss of left ear caused by noise	Interprets	True	Hearing	Inferred relationship	Some	2
Bilateral hearing loss of ears caused by noise	Interprets	True	Hearing	Inferred relationship	Some	3
Hearing loss of right ear caused by noise (disorder)	Interprets	True	Hearing	Inferred relationship	Some	2
High frequency sensorineural hearing loss of bilateral ears (disorder)	Interprets	True	Hearing	Inferred relationship	Some	3
Objective tinnitus of bilateral ears (finding)	Interprets	True	Hearing	Inferred relationship	Some	3
Objective tinnitus of right ear	Interprets	True	Hearing	Inferred relationship	Some	2
Objective tinnitus of left ear (finding)	Interprets	True	Hearing	Inferred relationship	Some	2
Subjective tinnitus of right ear	Interprets	True	Hearing	Inferred relationship	Some	3
Conductive hearing loss of bilateral middle ears (disorder)	Interprets	True	Hearing	Inferred relationship	Some	3
Subjective tinnitus of left ear (finding)	Interprets	True	Hearing	Inferred relationship	Some	3
Bilateral subjective tinnitus of ears	Interprets	True	Hearing	Inferred relationship	Some	3
A rare, genetic, premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, hypertriglyceridemia and diabetes mellitus/insulin resistance.	Interprets	True	Hearing	Inferred relationship	Some	4
A rare, genetic, mitochondrial myopathy characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.	Interprets	True	Hearing	Inferred relationship	Some	4
Bilateral hyperacusis of ears	Interprets	True	Hearing	Inferred relationship	Some	4
Hyperacusis of right ear (disorder)	Interprets	True	Hearing	Inferred relationship	Some	2
Hyperacusis of left ear (disorder)	Interprets	True	Hearing	Inferred relationship	Some	2
albinisme oculaire avec surdité neurosensorielle congénitale	Interprets	False	Hearing	Inferred relationship	Some	4
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (including thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.	Interprets	True	Hearing	Inferred relationship	Some	5
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome is a rare, non-acquired pituitary hormone deficiency syndrome characterized by 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.	Interprets	True	Hearing	Inferred relationship	Some	6
Hutchinson's triad	Interprets	True	Hearing	Inferred relationship	Some	4
Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heterotopia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated.	Interprets	True	Hearing	Inferred relationship	Some	3
Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies.	Interprets	True	Hearing	Inferred relationship	Some	5
Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (including cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported.	Interprets	True	Hearing	Inferred relationship	Some	4
A rare, genetic, renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor.	Interprets	True	Hearing	Inferred relationship	Some	5
A rare, genetic, syndromic dysostosis characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (including misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia.	Interprets	True	Hearing	Inferred relationship	Some	5
Impairment of hearing of bilateral ears co-occurrent and due to congenital ear malformation (disorder)	Interprets	True	Hearing	Inferred relationship	Some	4
Congenital malformation of left ear with impairment of hearing	Interprets	True	Hearing	Inferred relationship	Some	3
Impairment of hearing of right ear co-occurrent and due to congenital ear malformation (disorder)	Interprets	True	Hearing	Inferred relationship	Some	3
A very rare, syndromic genetic deafness characterized by mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped, with helix folded forward, and hearing loss is associated with malformed ossicles and displacement of the external auditory canal.	Interprets	True	Hearing	Inferred relationship	Some	2
Traumatic deafness, occupational	Interprets	True	Hearing	Inferred relationship	Some	2
Occupational deafness	Interprets	True	Hearing	Inferred relationship	Some	2
A rare, syndromic, developmental defect during embryogenesis characterized by urinary tract and kidney anomalies, such as renal pelviocaliceal attenuation with multiple tiny caliceal diverticula, associated with sensorineural hearing loss. There have been no further descriptions in the literature since 1981.	Interprets	True	Hearing	Inferred relationship	Some	3
Congenital deafness	Interprets	True	Hearing	Inferred relationship	Some	2
Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989.	Interprets	True	Hearing	Inferred relationship	Some	5
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.	Interprets	True	Hearing	Inferred relationship	Some	4
Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.	Interprets	True	Hearing	Inferred relationship	Some	4
Pendred's syndrome	Interprets	True	Hearing	Inferred relationship	Some	3
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder)	Interprets	True	Hearing	Inferred relationship	Some	5
A syndromic genetic deafness characterized by erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated.	Interprets	True	Hearing	Inferred relationship	Some	5
A rare, genetic, hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner.	Interprets	True	Hearing	Inferred relationship	Some	3
Neutropenia-monocytopenia-deafness syndrome is characterized by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.	Interprets	True	Hearing	Inferred relationship	Some	4
Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.	Interprets	True	Hearing	Inferred relationship	Some	4
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Interprets	True	Hearing	Inferred relationship	Some	3
Transient ischaemic deafness	Interprets	True	Hearing	Inferred relationship	Some	4
A rare, genetic coenzyme Q10 deficiency characterized by sensorineural deafness and severe, progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminemia and edema, leading to end-stage renal disease. The renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely, seizures, ataxia and dysmorphic features have been described.	Interprets	True	Hearing	Inferred relationship	Some	5
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family.	Interprets	True	Hearing	Inferred relationship	Some	5
Congenital prelingual deafness	Interprets	True	Hearing	Inferred relationship	Some	2
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.	Interprets	True	Hearing	Inferred relationship	Some	5
Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterised by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.	Interprets	True	Hearing	Inferred relationship	Some	3
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Interprets	True	Hearing	Inferred relationship	Some	5
Temporary auditory threshold shift (disorder)	Interprets	True	Hearing	Inferred relationship	Some	2
Hearing loss associated with syndrome	Interprets	True	Hearing	Inferred relationship	Some	2
Hystrix ichthyosis with deafness	Interprets	False	Hearing	Inferred relationship	Some	4
Noise-induced permanent threshold shift	Interprets	True	Hearing	Inferred relationship	Some	3
Dissociative deafness	Interprets	True	Hearing	Inferred relationship	Some	2
A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterised by a generalised skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.	Interprets	True	Hearing	Inferred relationship	Some	6
A rare genetic multiple congenital anomalies characterized by deafness and defects in neural crest-derived structures, including pigmentation anomalies of the eyes, hair, and skin. Four clinical phenotypes are associated with the term Waardenburg syndrome (WS).	Interprets	True	Hearing	Inferred relationship	Some	3
An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.	Interprets	True	Hearing	Inferred relationship	Some	4
A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour.	Interprets	True	Hearing	Inferred relationship	Some	3
Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.	Interprets	True	Hearing	Inferred relationship	Some	4
Multiple epiphyseal dysplasia Beighton type (disorder)	Interprets	True	Hearing	Inferred relationship	Some	3
High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.	Interprets	True	Hearing	Inferred relationship	Some	3
A rare genetic syndromic intellectual disability characterized by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993.	Interprets	True	Hearing	Inferred relationship	Some	4
A rare, genetic, neurological disorder characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and intellectual disability, described in persons of Athabascan American Indian heritage. Swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, internal carotid artery, and cardiac outflow tract anomalies may be additionally observed. No dysmorphic facial features are associated.	Interprets	True	Hearing	Inferred relationship	Some	3
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	False	Hearing	Inferred relationship	Some	7
Bosley-Salih-Alorainy syndrome (BSAS) is characterised by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation.	Interprets	True	Hearing	Inferred relationship	Some	3
Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.	Interprets	True	Hearing	Inferred relationship	Some	5
A rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.	Interprets	True	Hearing	Inferred relationship	Some	5
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.	Interprets	True	Hearing	Inferred relationship	Some	7
A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence.	Interprets	False	Hearing	Inferred relationship	Some	4
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, sensorineural hearing loss, developmental delay with variable degrees of intellectual disability, seizures, short stature, brachycephaly, and dysmorphic facial features (such as flat facial appearance, ptosis, short nasal tip, long philtrum, low-set and posteriorly rotated ears, and small mouth). Additional reported manifestations are skeletal abnormalities, nail dystrophy, mammary gland hypoplasia, and autism spectrum disorder.	Interprets	True	Hearing	Inferred relationship	Some	4
Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.	Interprets	True	Hearing	Inferred relationship	Some	4
Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.	Interprets	True	Hearing	Inferred relationship	Some	4
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

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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