Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder)
| Code | 1254651003 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20221031 |
85995004Autosomal recessive hereditary disorder
disorder
1148758003Congenital microcephaly
disorder
700453005Congenital sensorineural hearing loss
disorder
103276001Decreased hearing
finding
363070008Developmental hereditary disorder
disorder
75047002Disorder of skeletal muscle
disorder
1362108000Genetic intellectual disability
disorder
224958001Global developmental delay
disorder
232333009Hearing loss associated with syndrome
disorder
363212003Hereditary disorder of musculoskeletal system
disorder
788953003Hereditary hearing loss
disorder
1137472008Neurodevelopmental delay
disorder
398152000Poor muscle tone
finding
None (leaf concept).