Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder)
| Code | 1220595008 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20220531 |
85995004Autosomal recessive hereditary disorder
disorder
193570009Cataract
disorder
363070008Developmental hereditary disorder
disorder
232333009Hearing loss associated with syndrome
disorder
363212003Hereditary disorder of musculoskeletal system
disorder
363343008Hereditary disorder of the visual system
disorder
1186807002Hereditary growth hormone deficiency
disorder
788953003Hereditary hearing loss
disorder
11442006Hereditary sensory neuropathy
disorder
128190004Inherited metabolic disorder of nervous system
disorder
50279003Metabolic bone disease
disorder
240096000Mitochondrial cytopathy
disorder
60700002Sensorineural hearing loss
disorder
254062008Spondyloepimetaphyseal disorder
disorder
None (leaf concept).