Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)
| Code | 778023004 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20190131 |
85828009Autoimmune disease
disorder
85995004Autosomal recessive hereditary disorder
disorder
36138009Congenital immunodeficiency disease
disorder
363070008Developmental hereditary disorder
disorder
224958001Global developmental delay
disorder
65094009Multiple malformation syndrome with facial defects as major feature
disorder
58606001Primary immune deficiency disorder
disorder
None (leaf concept).