Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)
| Code | 1260450002 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20230131 |
85995004Autosomal recessive hereditary disorder
disorder
103276001Decreased hearing
finding
363070008Developmental hereditary disorder
disorder
363080007Digestive system hereditary disorder
disorder
1362108000Genetic intellectual disability
disorder
224958001Global developmental delay
disorder
763597000Hereditary ataxia
disorder
363104002Hereditary disorder of endocrine system
disorder
788953003Hereditary hearing loss
disorder
1137472008Neurodevelopmental delay
disorder
37992001Pancreatic insufficiency
disorder
60700002Sensorineural hearing loss
disorder
None (leaf concept).