Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome (disorder)
| Code | 1220597000 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20220531 |
232053004Autosomal recessive retinitis pigmentosa
disorder
363070008Developmental hereditary disorder
disorder
1362108000Genetic intellectual disability
disorder
399336001Juvenile cataract
disorder
65094009Multiple malformation syndrome with facial defects as major feature
disorder
237836003Short stature disorder
disorder
None (leaf concept).