multiple cutaneous and mucosal venous malformations

Term ID

DOID:0050792

Synonyms

• cutaneomucosal venous malformation
• mucocutaneous venous malformations
• VMCM

Definition

A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions that has_material_basis_in heterozygous mutation in the TEK gene on chromosome 9p21. (3)

References

• MESH:C563977
• OMIM:600195
• ORDO:2451
• SNOMEDCT_US_2023_03_01:699301008
• UMLS_CUI:C1838437

Ontology

Human Disease   ( DOID:0050792 )