X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome (disorder)
| Code | 1217228004 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20220430 |
16026008Congenital cerebellar hypoplasia
disorder
363070008Developmental hereditary disorder
disorder
1362108000Genetic intellectual disability
disorder
224958001Global developmental delay
disorder
363212003Hereditary disorder of musculoskeletal system
disorder
363235000Hereditary disorder of nervous system
disorder
65094009Multiple malformation syndrome with facial defects as major feature
disorder
1137472008Neurodevelopmental delay
disorder
278713008Spondyloepiphyseal dysplasia congenita
disorder
1162976004X-linked recessive hereditary disease
disorder
None (leaf concept).