large congenital melanocytic nevus

Term ID

DOID:0111359

Synonyms

• Congenital pigmented nevus
• Giant congenital melanocytic nevus
• Giant pigmented hairy nevus
• GMN
• LCMN

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. (2)

References

• GARD:2469
• MEDDRA:10072036
• MESH:C536819
• NCI:C3944
• NCI:C4234
• OMIM:137550
• ORDO:626
• SNOMEDCT_US_2023_03_01:254815002
• SNOMEDCT_US_2023_03_01:84953004
• UMLS_CUI:C1318558
• UMLS_CUI:C1842036

Ontology

Human Disease   ( DOID:0111359 )