| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Alport syndrome X-linked (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Alport syndrome autosomal dominant |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
| X-linked diffuse leiomyomatosis with Alport syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Weissenbacher-Zweymuller syndrome |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Deafness-oligodontia syndrome is characterized by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Robinson nail dystrophy-deafness syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Mandibular hypoplasia, deafness, progeroid syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Okulärer Albinismus mit kongenitaler sensorineuraler Schwerhörigkeit |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Hutchinson's triad |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Temtamy preaxial brachydactyly syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital deaf mutism |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital deafness |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital prelingual deafness |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital sensorineural hearing loss (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Occupational deafness (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Usher syndrome type 2 |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Pendred's syndrome |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Hypotrichosis and deafness syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Transient ischaemic deafness |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Retinitis pigmentosa-deafness syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Usher syndrome type 1 |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Fatal X-linked ataxia with deafness and loss of vision (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Retinitis pigmentosa-deafness-ataxia syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Hearing loss associated with syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Hystrix ichthyosis with deafness |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Abruzzo Erickson syndrome |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare genetic disease characterised 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 |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare syndrome characterised 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 |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare genetic syndromic intellectual disability characterised 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 |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare, severe, circulatory system disease characterised 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 |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Bosley Salih Alorainy syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| CHIME syndrome is a rare ectodermal dysplasia syndrome characterised by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Ehlers-Danlos syndrome kyphoscoliotic and deafness type |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Fine Lubinsky syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Deaf blind hypopigmentation syndrome Yemenite type |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| 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 |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Deafness and intellectual disability Martin Probst type syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Hirschsprung disease with deafness and polydactyly syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| MEDNIK syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Severe X-linked intellectual disability Gustavson type (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Gingival fibromatosis with progressive deafness syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Ramos Arroyo syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Split hand, split foot malformation with sensorineural hearing loss syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Sensorineural deafness with dilated cardiomyopathy syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Nephropathy, deafness, hyperparathyroidism syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Hypoparathyroidism, deafness, renal disease syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Caudal appendage-deafness syndrome is characterised by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Ectodermal dysplasia and sensorineural deafness syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Dysmorphism, short stature, deafness, disorder of sex development syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Nathalie syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Wildervanck syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Auditory synaptopathy |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Hereditary hearing loss |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Melnick-Fraser syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Renal tubular acidosis with progressive nerve deafness |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| X-linked spinocerebellar ataxia type 3 |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Senter syndrome |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Keratitis ichthyosis and deafness syndrome |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Familial amyloid nephropathy with urticaria AND deafness |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Albinism-deafness syndrome of Tietz (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Wolfram syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Craniofacial deafness hand syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Emberger syndrome |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Brown-Vialetto-Van Laere syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Maternally inherited diabetes and deafness (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Normal auditory tuning fork test (finding) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Jervell and Lange-Nielsen syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Bartter syndrome type 4a (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
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