| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| 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 (body structure) |
Inferred relationship |
Some |
1 |
| Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterised by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large, myelinated fibres on sural nerve biopsy is equally characteristic of the disease. |
Finding site |
True |
Ear structure (body structure) |
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. |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| 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. |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
3 |
| 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. |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
3 |
| Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated. |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| 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). |
Finding site |
False |
Ear structure (body structure) |
Inferred relationship |
Some |
3 |
| Disorder with characteristics of varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. Clinical manifestations vary within and between families. Frequent clinical manifestations include congenital sensorineural deafness, heterochromic or hypoplastic blue irides, white forelock or early graying of the scalp hair before the age of 30 years. The disease is genetically heterogeneous. To date, mutations in 6 different genes have been identified: PAX3 (2q36.1), MITF (3p14-p13), SNAI2 (8q11.21), SOX10 (22q13.1), EDNRB (13q22.3), and EDN3 (20q13.32). |
Finding site |
False |
Ear structure (body structure) |
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). |
Finding site |
False |
Ear structure (body structure) |
Inferred relationship |
Some |
4 |
| 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. |
Finding site |
False |
Ear structure (body structure) |
Inferred relationship |
Some |
4 |
| 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. |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
3 |
| 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. |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| The mildest form of otopalatodigital syndrome spectrum disorder, characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation have a broad range of phenotypic expression. |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| A severe form of otopalatodigital syndrome spectrum disorder with characteristics of dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system and intestine) and poor survival. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation are less severely affected. |
Finding site |
False |
Ear structure (body structure) |
Inferred relationship |
Some |
3 |
| Otopalatodigital syndrome |
Finding site |
False |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| Otopalatodigital syndrome |
Finding site |
False |
Ear structure (body structure) |
Inferred relationship |
Some |
5 |
| 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. |
Finding site |
False |
Ear structure (body structure) |
Inferred relationship |
Some |
5 |
| 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). |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| 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. |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
3 |
| Viral ear infection (disorder) |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| Auriculo-condylar syndrome |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| Oto-onycho-peroneal syndrome |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
3 |
| Auriculoocular anomaly and cleft lip syndrome |
Finding site |
False |
Ear structure (body structure) |
Inferred relationship |
Some |
2 |
| 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 |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| 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 |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| Ear, face and neck congenital anomalies |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| 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 |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
2 |
| A severe form of otopalatodigital syndrome spectrum disorder with characteristics of dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system and intestine) and poor survival. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation are less severely affected. |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
4 |
| 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 |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| Congenital conductive hearing loss |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| Neoplasm of uncertain behavior of ear (disorder) |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| A rare non-acquired pituitary hormone deficiency syndrome with characteristics of 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. |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
4 |
| A rare developmental defect during embryogenesis syndrome with characteristics of 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. |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
3 |
| Temporo-auro-mandibular dysostosis |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
3 |
| A rare genetic syndromic deafness with characteristics of 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. Caused by homozygous or compound heterozygous mutation in the GPSM2 gene on chromosome 1p13. |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of dysmorphic facial features including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
2 |
| A group of rare genetic developmental defect during embryogenesis disorders with the association of sensorineural deafness and onychodystrophy (for example absent/hypoplastic finger and toenails) as well as brachydactyly and finger-like thumbs. |
Finding site |
False |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| 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. There is evidence this syndrome is caused by mutation in the CD151 gene. |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
4 |
| 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. The disease is caused by homozygous or compound heterozygous mutation in the SLC33A1 gene on chromosome 3q25. |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| 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 (body structure) |
Inferred relationship |
Some |
5 |
| A rare syndromic developmental defect during embryogenesis with characteristics of urinary tract and kidney anomalies such as renal pelvicaliceal attenuation with multiple tiny caliceal diverticula, associated with sensorineural hearing loss. There have been no further descriptions in the literature since 1981. |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
2 |
| Ear discharge (finding) |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| Fresh blood in external ear canal |
Finding site |
False |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| Dried blood in external ear canal |
Finding site |
False |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| Blood in ear canal |
Finding site |
False |
Ear structure (body structure) |
Inferred relationship |
Some |
2 |
| objektivt: blod fra øre |
Finding site |
False |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| Blood discharge from ear |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| objektivt: serøst udflåd fra øret |
Finding site |
False |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| objektivt: voksagtigt øreflåd |
Finding site |
False |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| objektivt: blodtilblandet øreflåd |
Finding site |
False |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| Fishing hook in ear region |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| 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. |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
4 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of 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. There is evidence the disease is caused by heterozygous mutation in the COL11A2 gene on chromosome 6p21. |
Finding site |
False |
Ear structure (body structure) |
Inferred relationship |
Some |
3 |
| Ear discharge symptoms |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
2 |
| objektivt: øreflåd |
Finding site |
False |
Ear structure (body structure) |
Inferred relationship |
Some |
3 |
| objektivt: blod i øregang |
Finding site |
False |
Ear structure (body structure) |
Inferred relationship |
Some |
3 |
| A rare syndromic genetic deafness with characteristics of 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. There is evidence the disease is caused by heterozygous mutation in the MYH14 gene on chromosome 19q13. |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
2 |
| Dissociative deafness |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| Multiple epiphyseal dysplasia Beighton type (disorder) |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
4 |
| 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. |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
4 |
| Hemorrhagic otitis externa |
Finding site |
False |
Ear structure (body structure) |
Inferred relationship |
Some |
2 |
| Waxy discharge from ear |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| Myhre syndrome |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
2 |
| Fetal ear palpable vaginally |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
2 |
| Anomaly of fetal ear |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| Foreign body in skin of ear with infection |
Finding site |
False |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| Congenital short ear |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| Effects of high altitude on ears |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| Waardenburg syndrome type 3 |
Finding site |
False |
Ear structure (body structure) |
Inferred relationship |
Some |
2 |
| 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. |
Finding site |
False |
Ear structure (body structure) |
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. |
Finding site |
False |
Ear structure (body structure) |
Inferred relationship |
Some |
2 |
| Autologous graft of rib cartilage to ear (procedure) |
Procedure site - Direct (attribute) |
False |
Ear structure (body structure) |
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. |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
5 |
| 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 |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
4 |
| Congenital mixed conductive and sensorineural hearing loss |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| 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. |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| Invasive aural aspergillosis |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| Ocular albinism with congenital sensorineural deafness |
Finding site |
False |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| Cerebrospinal fluid otorrhea due to encephalocele (disorder) |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
2 |
| Cerebrospinal fluid otorrhea due to congenital deformity of labyrinth (disorder) |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
2 |
| Cerebrospinal fluid otorrhea due to giant arachnoid granulation (disorder) |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
2 |
| Cerebrospinal fluid otorrhea due to otitis media (disorder) |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
2 |
| Taking ear swab |
Procedure site - Indirect (attribute) |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
3 |
| High frequency conductive hearing loss (disorder) |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| Low frequency conductive hearing loss (disorder) |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| Ear care |
Procedure site - Direct (attribute) |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| Autologous graft of rib cartilage to ear (procedure) |
Procedure site - Direct (attribute) |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| Grafting of ear cartilage to ear (procedure) |
Procedure site - Direct (attribute) |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| Plain X-ray of ear |
Procedure site - Direct (attribute) |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
| Benign glomus tumor of ear (disorder) |
Finding site |
True |
Ear structure (body structure) |
Inferred relationship |
Some |
1 |
FHIR