Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome (disorder)
| Code | 1172605003 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20210930 |
232053004Autosomal recessive retinitis pigmentosa
disorder
43476002Brachydactyly
disorder
363070008Developmental hereditary disorder
disorder
237834000Disorder of stature
disorder
788953003Hereditary hearing loss
disorder
23359005Multiple malformation syndrome with facial-limb defects as major feature
disorder
399959003Premature ageing syndrome
disorder
60700002Sensorineural hearing loss
disorder
None (leaf concept).