Genetic mutation (finding)
| Code | 55446002 |
|---|---|
| Semantic tag | finding |
| Module | international |
| Definition | primitive |
| Effective time | 20020131 |
106221001Genetic finding
finding
325753009Frame-shift mutation
finding
1099611000119109Hereditary non-polyposis colon cancer gene mutation detected
finding
1365861003Lynch syndrome gene mutation detected
finding
1306850007Missense mutation
finding
430934002Mitochondrial mutation
finding
327671006Nonsense mutation
finding
1336206001Promoter mutation
finding
1336122005Small deletion
finding
1336123000Small insertion
finding
124975008Somatic mutation
finding
1306851006Splice site mutation
finding
1331913009Structural variant
finding
326724004Suppressor mutation
finding
1306861004Synonymous single nucleotide substitution
finding
124976009Temperature-sensitive mutation
finding
1179760003Tumour mutational burden
finding
1336209008UTR (untranslated region) mutation
finding