| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Audiometric test |
Procedure site - Direct (attribute) |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Diagnostic audiology (procedure) |
Procedure site - Direct (attribute) |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Basic comprehensive audiometry testing |
Procedure site - Direct (attribute) |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Audiogram |
Procedure site - Direct (attribute) |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Binaural electroacoustic evaluation for hearing aid (procedure) |
Procedure site - Direct (attribute) |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Electrodermal audiometry |
Procedure site - Direct (attribute) |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Select picture audiometry |
Procedure site - Direct (attribute) |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Automated auditory brainstem response test (procedure) |
Procedure site - Direct (attribute) |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Audiologic function test with medical evaluation |
Procedure site - Direct (attribute) |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Medical evaluation of hearing problem |
Procedure site - Direct (attribute) |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Speech audiometry, extended, swinging story test |
Procedure site - Direct (attribute) |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Acoustic stimulation test |
Procedure site - Direct (attribute) |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Electrocochleography |
Procedure site - Direct (attribute) |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Special audiologic evaluation for functional hearing loss |
Procedure site - Direct (attribute) |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Auditory rotation test |
Procedure site - Direct (attribute) |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Medical evaluation of speech, language and hearing problem (procedure) |
Procedure site - Direct (attribute) |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Congenital hearing disorder |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Adult hearing test (procedure) |
Procedure site - Direct (attribute) |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Acoustic reflex finding (finding) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Acoustic reflex testing |
Procedure site - Direct (attribute) |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Hearing symptoms (finding) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Adult hearing test (procedure) |
Procedure site - Direct (attribute) |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Automated otoacoustic emission test (procedure) |
Procedure site - Direct (attribute) |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Automated otoacoustic emission test (procedure) |
Procedure site - Direct (attribute) |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Deafness of right ear |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Deafness of left ear (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Hearing loss of right ear (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Hearing loss of left ear (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Metabolic presbycusis |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
|
| Presbycusis |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
|
| Mechanical presbycusis (disorder) |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
|
| Acquired sensorineural hearing loss (disorder) |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
|
| Acquired deaf mutism (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Congenital deaf mutism |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
|
| Weissenbacher-Zweymuller syndrome |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
5 |
| Congenital sensorineural hearing loss (disorder) |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
|
| Profound sensorineural hearing loss |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Deafness-dystonia-optic neuronopathy syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Mild to moderate hearing loss |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Severe hearing loss |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Intraoperative brainstem auditory evoked potential test (procedure) |
Procedure site - Direct (attribute) |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Perception of hearing loss |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| 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 |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
|
| Stapes fixation (stapediovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease). |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Olivopontocerebellar atrophy-deafness syndrome is characterized by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Deafness-craniofacial syndrome is characterized by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant. |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Cleft lip/palate-deafness-sacral lipoma syndrome is characterized by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| Sudden sensorineural hearing loss (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Microcephaly-deafness-intellectual disability syndrome is characterized by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
6 |
| Abnormal finding on auditory function study (finding) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss. |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life. |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| A rare disorder characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
5 |
| Acquired hearing loss (disorder) |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
|
| Inherited distal renal tubular acidosis combined with sensorineural deafness. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalemic metabolic acidosis with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| syndrome de nanisme ostéochondrodysplasique-surdité-rétinopathie pigmentaire |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Ichthyose-Hypotrichose-Syndrom |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Sudden idiopathic hearing loss (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Mild acquired hearing loss |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
|
| Moderate acquired hearing loss |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
|
| Severe acquired hearing loss |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
|
| Profound acquired hearing loss (disorder) |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
|
| Retinitis pigmentosa-deafness syndrome |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
|
| Retinitis pigmentosa-deafness-ataxia syndrome |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
|
| Usher syndrome type 1 |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
|
| Usher syndrome type 2 |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
|
| Megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| Audiological implant in situ |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Total visual and total hearing impairment (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Alstrom syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
5 |
| Birth trauma deafness |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Autoimmune sensorineural hearing loss (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Postoperative profound sensorineural hearing loss |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Mild acquired hearing loss |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Metabolic presbycusis |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Mechanical presbycusis (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Acquired sensorineural hearing loss (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Ototoxicity - deafness |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Presbycusis |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Severe acquired hearing loss |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Postnatal acquired sensorineural hearing loss |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Profound acquired hearing loss (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Drug ototoxicity - deafness |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Acquired hearing loss (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Moderate acquired hearing loss |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Alport syndrome autosomal recessive (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| 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. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Alport syndrome X-linked (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
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