Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
| Code | 1222655009 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20220531 |
85995004Autosomal recessive hereditary disorder
disorder
103276001Decreased hearing
finding
398151007Decreased muscle tone
finding
75047002Disorder of skeletal muscle
disorder
232333009Hearing loss associated with syndrome
disorder
763597000Hereditary ataxia
disorder
106018006Hereditary degenerative disease of central nervous system
disorder
363212003Hereditary disorder of musculoskeletal system
disorder
788953003Hereditary hearing loss
disorder
312942003Inherited optic neuropathy
disorder
240096000Mitochondrial cytopathy
disorder
76976005Optic atrophy
disorder
398152000Poor muscle tone
finding
None (leaf concept).