117590005: Ear structure (body structure)

SNOMED CT Concept\Body structure (body structure)\Anatomical or acquired body structure (body structure)\Anatomical structure\...

\An anatomical structure that consists of the maximal set of organ parts so connected to one another that together they constitute a self-contained unit of macroscopic anatomy, distinct both morphologically and functionally from other such units. Together with other organs, an organ constitutes an organ system or a body part. An organ is divisible into organ parts but not organs (examples: femur, biceps, liver, heart, aorta, sciatic nerve, ovary).\Structure of sensory organ\Ear structure

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
Ear structure	Is a	Structure of auditory system (body structure)	false	Inferred relationship	Some
Ear structure	Is a	Head part	false	Inferred relationship	Some
Ear structure	partie de	Entire head	false	Additional relationship	Some
Ear structure	partie de	Entire auditory system	false	Additional relationship	Some
Ear structure	Laterality	Side (qualifier value)	true	Inferred relationship	Some
Ear structure	Is a	Structure of ear, nose, and/or throat	true	Inferred relationship	Some
Ear structure	Is a	Structure of half of head lateral to midsagittal plane (body structure)	false	Inferred relationship	Some
Ear structure	Is a	Auricular region structure (body structure)	true	Inferred relationship	Some
Ear structure	Is a	Structure of peripheral auditory system	true	Inferred relationship	Some
Ear structure	Is a	Structure of sensory organ	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital malformation of eye, ear and neck (disorder)	Finding site	False	Ear structure	Inferred relationship	Some	4
Preauricular sinus, pit or fistula	Finding site	False	Ear structure	Inferred relationship	Some	4
Midline cervical cleft (disorder)	Finding site	False	Ear structure	Inferred relationship	Some	3
Preauricular sinus	Finding site	False	Ear structure	Inferred relationship	Some	1
Branchial cleft	Finding site	False	Ear structure	Inferred relationship	Some	3
Ear, face and neck congenital anomalies	Finding site	False	Ear structure	Inferred relationship	Some	3
Auriculo-condylar syndrome	Finding site	False	Ear structure	Inferred relationship	Some	2
Preauricular sinus and fistula	Finding site	False	Ear structure	Inferred relationship	Some	8
Human bite of ear region	Finding site	True	Ear structure	Inferred relationship	Some	1
Human bite of ear region	Finding site	False	Ear structure	Inferred relationship	Some	2
Insect bite of ear region	Finding site	False	Ear structure	Inferred relationship	Some	2
Ear lesion	Finding site	True	Ear structure	Inferred relationship	Some	1
Bacterial ear infection	Finding site	True	Ear structure	Inferred relationship	Some	1
Oto-onycho-peroneal syndrome	Finding site	False	Ear structure	Inferred relationship	Some	5
Infection involving inner ear	Finding site	False	Ear structure	Inferred relationship	Some	1
Infection of external auditory canal	Finding site	False	Ear structure	Inferred relationship	Some	1
Infection of ear lobe	Finding site	False	Ear structure	Inferred relationship	Some	1
Infection of ear (disorder)	Finding site	True	Ear structure	Inferred relationship	Some	1
Infective otitis media	Finding site	False	Ear structure	Inferred relationship	Some	2
Tuberculosis of ear	Finding site	True	Ear structure	Inferred relationship	Some	2
Fungal ear infection	Finding site	False	Ear structure	Inferred relationship	Some	2
Endocochlear rubella	Finding site	False	Ear structure	Inferred relationship	Some	2
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Finding site	True	Ear structure	Inferred relationship	Some	2
A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.	Finding site	False	Ear structure	Inferred relationship	Some	2
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.	Finding site	False	Ear structure	Inferred relationship	Some	3
Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three siblings and their mother. Inheritance is autosomal dominant.	Finding site	False	Ear structure	Inferred relationship	Some	4
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.	Finding site	True	Ear structure	Inferred relationship	Some	3
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.	Finding site	False	Ear structure	Inferred relationship	Some
Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.	Finding site	False	Ear structure	Inferred relationship	Some	2
Epithelio-exfoliative colitis and deafness syndrome	Finding site	False	Ear structure	Inferred relationship	Some
A rare genetic disease characterized by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991.	Finding site	False	Ear structure	Inferred relationship	Some	2
A rare disorder characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.	Finding site	False	Ear structure	Inferred relationship	Some	2
A rare peripheral neuropathy characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.	Finding site	False	Ear structure	Inferred relationship	Some	1
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.	Finding site	False	Ear structure	Inferred relationship	Some	4
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.	Finding site	False	Ear structure	Inferred relationship	Some	4
A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.	Finding site	False	Ear structure	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.	Finding site	False	Ear structure	Inferred relationship	Some	3
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.	Finding site	False	Ear structure	Inferred relationship	Some	2
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.	Finding site	False	Ear structure	Inferred relationship	Some	6
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.	Finding site	False	Ear structure	Inferred relationship	Some	2
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.	Finding site	True	Ear structure	Inferred relationship	Some	2
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.	Finding site	False	Ear structure	Inferred relationship	Some	6
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.	Finding site	False	Ear structure	Inferred relationship	Some	3
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss.	Finding site	False	Ear structure	Inferred relationship	Some	2
A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis.	Finding site	False	Ear structure	Inferred relationship	Some	5
Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.	Finding site	False	Ear structure	Inferred relationship	Some	3
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.	Finding site	False	Ear structure	Inferred relationship	Some
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.	Finding site	False	Ear structure	Inferred relationship	Some	3
Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.	Finding site	False	Ear structure	Inferred relationship	Some	3
A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported.	Finding site	False	Ear structure	Inferred relationship	Some	6
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).	Finding site	False	Ear structure	Inferred relationship	Some	5
A rare X-linked syndromic intellectual disability characterized by congenital sensorineural hearing loss, varying degrees of intellectual disability, short stature, and dysmorphic facial features (such as telecanthus, epicanthic folds, broad nasal root, malar hypoplasia, low-set ears, dental anomalies, and micrognathia). Additional reported manifestations include microcephaly, renal and genitourinary abnormalities, widely spaced, hypoplastic nipples, and adult onset of progressive pancytopenia.	Finding site	False	Ear structure	Inferred relationship	Some	2
A rare malformative syndrome with dentinogenesis imperfecta, characterized by dentin dysplasia with opalescent discoloration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported.	Finding site	False	Ear structure	Inferred relationship	Some	3
Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and ureteral abnormalities are absent.	Finding site	False	Ear structure	Inferred relationship	Some	3
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.	Finding site	False	Ear structure	Inferred relationship	Some	5
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.	Finding site	False	Ear structure	Inferred relationship	Some	3
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures.	Finding site	False	Ear structure	Inferred relationship	Some
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.	Finding site	True	Ear structure	Inferred relationship	Some	1
A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia.	Finding site	False	Ear structure	Inferred relationship	Some	3
Primary squamous cell carcinoma of ear (disorder)	Finding site	True	Ear structure	Inferred relationship	Some	1
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported.	Finding site	True	Ear structure	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.	Finding site	False	Ear structure	Inferred relationship	Some	4
A rare syndrome characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait.	Finding site	False	Ear structure	Inferred relationship	Some	2
Auriculoocular anomaly and cleft lip syndrome	Finding site	False	Ear structure	Inferred relationship	Some	5
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.	Finding site	False	Ear structure	Inferred relationship	Some	2
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.	Finding site	False	Ear structure	Inferred relationship	Some	1
This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.	Finding site	False	Ear structure	Inferred relationship	Some	2
Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.	Finding site	False	Ear structure	Inferred relationship	Some	6
Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.	Finding site	False	Ear structure	Inferred relationship	Some	2
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.	Finding site	False	Ear structure	Inferred relationship	Some	1
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.	Finding site	False	Ear structure	Inferred relationship	Some	2
A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989.	Finding site	False	Ear structure	Inferred relationship	Some	3
A rare mitochondrial disease that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external ophthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.	Finding site	False	Ear structure	Inferred relationship	Some	2
Hypospadias, hypertelorism, coloboma, deafness syndrome	Finding site	False	Ear structure	Inferred relationship	Some
Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).	Finding site	False	Ear structure	Inferred relationship	Some	7
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.	Finding site	False	Ear structure	Inferred relationship	Some	4
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.	Finding site	False	Ear structure	Inferred relationship	Some	1
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.	Finding site	False	Ear structure	Inferred relationship	Some	2
Ectodermal dysplasia-sensorineural deafness syndrome is characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive.	Finding site	False	Ear structure	Inferred relationship	Some	3
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.	Finding site	False	Ear structure	Inferred relationship	Some	3
Fluid specimen from ear (specimen)	Specimen source topography	True	Ear structure	Inferred relationship	Some	1
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.	Finding site	True	Ear structure	Inferred relationship	Some	5
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterized by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.	Finding site	False	Ear structure	Inferred relationship	Some	6
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.	Finding site	False	Ear structure	Inferred relationship	Some	2
A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additional neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985.	Finding site	True	Ear structure	Inferred relationship	Some	5
Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988.	Finding site	True	Ear structure	Inferred relationship	Some	6
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.	Finding site	True	Ear structure	Inferred relationship	Some	6
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.	Finding site	True	Ear structure	Inferred relationship	Some	2
Specimen from ear obtained by aspiration (specimen)	Specimen source topography	True	Ear structure	Inferred relationship	Some	1
Degenerative disorder of ear (disorder)	Finding site	True	Ear structure	Inferred relationship	Some	1
Reconstruction of ear (procedure)	Procedure site - Direct (attribute)	True	Ear structure	Inferred relationship	Some	1
Atrophy of ear (disorder)	Finding site	True	Ear structure	Inferred relationship	Some	1
Congenital conductive hearing loss	Finding site	False	Ear structure	Inferred relationship	Some	3
Congenital mixed conductive and sensorineural hearing loss	Finding site	False	Ear structure	Inferred relationship	Some	2
External hearing aid in situ (finding)	Finding site	True	Ear structure	Inferred relationship	Some	1
Aural myiasis	Finding site	True	Ear structure	Inferred relationship	Some	1
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).	Finding site	False	Ear structure	Inferred relationship	Some	2
Fungal ear infection	Finding site	True	Ear structure	Inferred relationship	Some	1
Prelingual non-syndromic genetic deafness (disorder)	Finding site	False	Ear structure	Inferred relationship	Some	1
Postlingual non-syndromic genetic deafness	Finding site	False	Ear structure	Inferred relationship	Some	1
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).	Finding site	True	Ear structure	Inferred relationship	Some	1

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Reference Sets

Lateralizable body structure reference set (foundation metadata concept)

Anatomy structure and entire association reference set (foundation metadata concept)

Anatomy structure and part association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
187166011	Ear-related structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
436260016	Ear structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
691033011	Ear structure (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4042147015	Ear	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1001861000241115	oreille	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1002221000241116	structure de l'oreille	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module