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Port-wine stain with oculocutaneous melanosis

MedGen UID:
220888
Concept ID:
C1274879
Congenital Abnormality
Synonym: Phakomatosis pigmentovascularis
SNOMED CT: Port-wine stain with oculocutaneous melanosis (403545005); Phakomatosis pigmentovascularis (403545005)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0017318
Orphanet: ORPHA2875

Definition

A rare skin disease characterized by the co-occurrence of a widespread vascular nevus (typically nevus flammeus) and a pigmentary nevus, potentially associated with a variety of other cutaneous nevi, and with or without extracutaneous (most commonly central nervous system, ocular, or musculoskeletal) involvement. Several subtypes are distinguished based on phenotypic characteristics. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPort-wine stain with oculocutaneous melanosis

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