2p21 microdeletion syndrome without cystinuria (disorder)
| Code | 770754006 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20190131 |
85995004Autosomal recessive hereditary disorder
disorder
287085006Congenital genitourinary anomaly
disorder
726368009Deletion of part of short arm of chromosome 2
disorder
363070008Developmental hereditary disorder
disorder
75047002Disorder of skeletal muscle
disorder
1362108000Genetic intellectual disability
disorder
224958001Global developmental delay
disorder
363212003Hereditary disorder of musculoskeletal system
disorder
86765009Mild learning disability
disorder
65094009Multiple malformation syndrome with facial defects as major feature
disorder
1137472008Neurodevelopmental delay
disorder
398152000Poor muscle tone
finding
None (leaf concept).