Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
| Code | 721207002 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20170131 |
13028004Abnormal nervous system function
finding
85995004Autosomal recessive hereditary disorder
disorder
363070008Developmental hereditary disorder
disorder
1362108000Genetic intellectual disability
disorder
763597000Hereditary ataxia
disorder
788953003Hereditary hearing loss
disorder
367591000119105Hereditary nephropathy
disorder
95568003Renal tubular disorder
disorder
128613002Seizure disorder
disorder
60700002Sensorineural hearing loss
disorder
None (leaf concept).