Spondyloepiphyseal dysplasia congenita group (disorder)
| Code | 278713008 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20020131 |
8447006Congenital anomaly of skeletal bone
disorder
879976004Lesion of bone
disorder
105986008Skeletal dysplasia
disorder
254061001Achondrogenesis, type II
disorder
205483007Hypochondrogenesis
disorder
1363285001MIR140-related spondyloepiphyseal dysplasia
disorder
715670004Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis
disorder
389159004Mild spondyloepiphyseal dysplasia with premature onset arthrosis
disorder
22567005Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
disorder
29145002Schwartz-Jampel syndrome
disorder
718765003Spondyloepiphyseal dysplasia Cantu type
disorder
719203001Spondyloepiphyseal dysplasia Kimberley type
disorder
718763005Spondyloepiphyseal dysplasia MacDermot type
disorder
719204007Spondyloepiphyseal dysplasia Maroteaux type
disorder
718764004Spondyloepiphyseal dysplasia Reardon type
disorder
1228860003Spondyloepiphyseal dysplasia Stanescu type
disorder
389160009Spondyloepiphyseal dysplasia with joint laxity
disorder
718766002Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome
disorder
1356736002Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome
disorder
783097004Stickler syndrome type 3
disorder
1217228004X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
disorder