Deafness with epiphyseal dysplasia and short stature syndrome (disorder)
| Code | 716238003 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20160731 |
85995004Autosomal recessive hereditary disorder
disorder
123561001Congenital anomaly of femur
disorder
1290922001Congenital dysplasia of lower limb
disorder
700453005Congenital sensorineural hearing loss
disorder
363070008Developmental hereditary disorder
disorder
254080004Epiphyseal dysplasia
disorder
363212003Hereditary disorder of musculoskeletal system
disorder
788953003Hereditary hearing loss
disorder
23359005Multiple malformation syndrome with facial-limb defects as major feature
disorder
1052355003Progressive hearing loss
disorder
896885006Structural abnormality of epiphysis of limb
disorder
None (leaf concept).