Mandibuloacral dysplasia due to metaxin 2 gene mutation (disorder)
| Code | 1373746006 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20251001 |
85995004Autosomal recessive hereditary disorder
disorder
128224008Congenital anomaly of mandible
disorder
88631000119105Congenital dysplasia of limb
disorder
363056008Degenerative disorder of extremity
disorder
396325007Degenerative skin disorder
disorder
363070008Developmental hereditary disorder
disorder
363212003Hereditary disorder of musculoskeletal system
disorder
879976004Lesion of bone
disorder
767811005Lesion of face
disorder
50279003Metabolic bone disease
disorder
23359005Multiple malformation syndrome with facial-limb defects as major feature
disorder
203522001Osteolysis
disorder
399959003Premature ageing syndrome
disorder
105986008Skeletal dysplasia
disorder
897432004Structural abnormality of bone of limb
disorder
None (leaf concept).