Preferred Label : PHACE syndrome;
ICD-11 definition : PHACE is an acronym used to describe a rare syndrome characterised by the association
of Posterior fossa brain malformations, large facial Haemangiomas, anatomical anomalies
of the cerebral Arteries, aortic coarctation and other Cardiac anomalies, and Eye
abnormalities.;
ICD-11 synonym : PHACE - [posterior fossa malformations – haemangiomas – arterial anomalies – cardiac
defects – eye abnormalities – sternal cleft – supraumbilical raphe] syndrome;
Origin ID : 1825849023;
Currated CISMeF NLP mapping
PHACE is an acronym used to describe a rare syndrome characterised by the association
of Posterior fossa brain malformations, large facial Haemangiomas, anatomical anomalies
of the cerebral Arteries, aortic coarctation and other Cardiac anomalies, and Eye
abnormalities.
