Auditory system hereditary disorder (disorder)
| Code | 362991006 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | defined |
| Effective time | 20020131 |
362966006Disorder of auditory system
disorder
363137000Hereditary disorder by system
disorder
702443003Auriculo-condylar syndrome
disorder
1236804009Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
disorder
719468005Cleft palate with stapes fixation and oligodontia syndrome
disorder
763130006Cleft palate, large ears, small head syndrome
disorder
720748007Cooper Jabs syndrome
disorder
725096002Cryptomicrotia brachydactyly syndrome
disorder
702423009Deafness-dystonia-optic neuronopathy syndrome
disorder
1260203008EVEN-plus syndrome
disorder
1208480004Epibulbar lipodermoid, preauricular appendage, polythelia syndrome
disorder
783774006External auditory canal atresia, vertical talus, hypertelorism syndrome
disorder
773750003Flat face, microstomia, ear anomaly syndrome
disorder
788953003Hereditary hearing loss
disorder
721836009Hypertelorism with microtia and facial clefting syndrome
disorder
232306005Inherited cochlear degeneration
disorder
726709001Intellectual disability, cataract, calcified pinna, myopathy syndrome
disorder
722006004Isotretinoin-like syndrome
disorder
724139004Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome
disorder
1217379007NKX6-2-related autosomal recessive hypomyelinating leucodystrophy
disorder
723442008Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome
disorder
763815000Oculoauricular syndrome Schorderet type
disorder
441944007Oto-onycho-peroneal syndrome
disorder
42432003Oto-palato-digital syndrome, type II
disorder
715529009Progressive deafness with stapes fixation
disorder
715415005Richards-Rundle syndrome
disorder
721888002Scalp, ear, nipple syndrome
disorder
774155009Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
disorder
726672000Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome
disorder
716110002Upper limb defect with eye and ear abnormalities syndrome
disorder