Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome (disorder)
| Code | 773398005 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20190131 |
85995004Autosomal recessive hereditary disorder
disorder
79410001Congenital cataract
disorder
700453005Congenital sensorineural hearing loss
disorder
248290002Developmental delay
disorder
363070008Developmental hereditary disorder
disorder
363212003Hereditary disorder of musculoskeletal system
disorder
363343008Hereditary disorder of the visual system
disorder
788953003Hereditary hearing loss
disorder
16851005Mitochondrial myopathy
disorder
398152000Poor muscle tone
finding
None (leaf concept).