| Metadata | |
|---|---|
| ID | DOID:0111359 |
| Name | large congenital melanocytic nevus |
| Definition | A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5. https://www.ncbi.nlm.nih.gov/pubmed/18671780, https://www.ncbi.nlm.nih.gov/pubmed/23392294 |
| Xrefs |
MEDDRA:10072036 SNOMEDCT_US_2023_03_01:254815002 SNOMEDCT_US_2023_03_01:84953004 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Congenital pigmented nevus [EXACT] Giant congenital melanocytic nevus [EXACT] Giant pigmented hairy nevus [EXACT] GMN [EXACT] LCMN [EXACT] |
| Parent Relationships |
is_a skin disease is_a physical disorder |