Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy (disorder)
| Code | 1237421000 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20220930 |
85995004Autosomal recessive hereditary disorder
disorder
78689005Chronic brain syndrome
disorder
363070008Developmental hereditary disorder
disorder
1362108000Genetic intellectual disability
disorder
363235000Hereditary disorder of nervous system
disorder
22811006Leucoencephalopathy
disorder
1148757008Microcephaly
finding
65094009Multiple malformation syndrome with facial defects as major feature
disorder
None (leaf concept).