| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Bartter syndrome type 4a (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Bartter syndrome type 4 (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Partial transitory deafness (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Total transitory deafness |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Transitory deafness |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Neural hearing loss of right ear (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Neural hearing loss of left ear (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Retinitis pigmentosa-deafness syndrome type 3 (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Sensorineural deafness due to late congenital syphilis |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Beta-D-mannosidosis |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Mutilating keratoderma |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Keratoderma hereditarium mutilans with ichthyosis syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Split-foot malformation, mesoaxial polydactyly syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Ocular albinism with late-onset sensorineural deafness (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Congenital hearing disorder |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 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 |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Pili torti-deafness syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| X-linked sensorineural hearing loss |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterised by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Maternal perinatal sensorineural hearing loss |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Neonatal sensorineural hearing loss |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Fetal sensorineural hearing loss (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Autosomal dominant spastic paraplegia type 29 |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Non-syndromic mitochondrial sensorineural deafness (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| Stickler syndrome type 3 (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Deafness with onychodystrophy syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| DOORS syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Autosomal dominant deafness with onychodystrophy syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| A rare mitochondrial disease characterised by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| A rare mitochondrial disease characterized by bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Duane retraction syndrome with congenital deafness |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Auditory brainstem electric response audiometry with click stimulation |
Procedure site - Direct (attribute) |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Auditory brainstem electric response audiometry with tone stimulation |
Procedure site - Direct (attribute) |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Profound hearing loss |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 greying 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 |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| 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 |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Waardenburg syndrome type 1 (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Waardenburg syndrome type 2 (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Waardenburg syndrome type 3 (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Senter syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Keratitis ichthyosis and deafness syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| A rare mitochondrial disease characterized by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Deafness is the most frequent form of sensorial deficit. In the vast majority of cases, the deafness is termed nonsyndromic or isolated and the hearing loss is the only clinical anomaly reported. In developed counties, 60-80% of cases of early-onset hearing loss are of genetic origin. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Postlingual non-syndromic genetic deafness |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Prelingual non-syndromic genetic deafness (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Infantile multisystem neurologic, endocrine, pancreatic disease (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Structure of left auditory system (body structure) |
Is a |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Structure of right auditory system |
Is a |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Usher syndrome type 1F (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare primary bone dysplasia characterised by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Type 1 has onset in the first decade with diabetes mellitus and optic atrophy manifestations. 50% of patients also develop diabetes insipidus. Additional features may include urinary tract abnormalities, neurological involvement and psychiatric manifestations. Caused by caused by homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1) on chromosome 4p16. Transmission is autosomal recessive. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Wolfram syndrome type 2 |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Misophonia (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Mitchell syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Inconsistent results on voice testing |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Voice testing inconclusive |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Absent acoustic reflex |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
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