Joubert syndrome (disorder)
| Code | 716997004 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20160731 |
85995004Autosomal recessive hereditary disorder
disorder
363070008Developmental hereditary disorder
disorder
253175003Familial aplasia of the vermis
disorder
363235000Hereditary disorder of nervous system
disorder
733418003Joubert syndrome with Jeune asphyxiating thoracic dystrophy
disorder
721847002Joubert syndrome with congenital hepatic fibrosis
disorder
716998009Joubert syndrome with ocular defect
disorder
721862000Joubert syndrome with oculorenal defect
disorder
721873007Joubert syndrome with orofaciodigital defect
disorder
716999001Joubert syndrome with renal defect
disorder