Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder)
| Code | 718766002 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20170131 |
85995004Autosomal recessive hereditary disorder
disorder
87979003Cleft palate
disorder
237513002Congenital anomaly of bone and joint
disorder
79410001Congenital cataract
disorder
57219006Craniosynostosis syndrome
disorder
363070008Developmental hereditary disorder
disorder
1362108000Genetic intellectual disability
disorder
363212003Hereditary disorder of musculoskeletal system
disorder
363343008Hereditary disorder of the visual system
disorder
278713008Spondyloepiphyseal dysplasia congenita
disorder
None (leaf concept).