Preferred Label : Xeroderma pigmentosum A;
ICD-11 definition : Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma
pigmentosum (XP), a rare photodermatosis predisposing to skin cancers, and shows typical
XP manifestations (photosensitivity of skin with burning, freckling, and skin cancers)
associated with a spectrum of mild to severe neurological anomalies (e.g. cognitive
deterioration, dysarthria, balance disturbance, areflexia) and sometimes delay of
growth and sexual development.;
ICD-11 synonym : XPA - [xeroderma pigmentosum A];
ICD-11 acronym : XPA;
Origin ID : 502959160;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma
pigmentosum (XP), a rare photodermatosis predisposing to skin cancers, and shows typical
XP manifestations (photosensitivity of skin with burning, freckling, and skin cancers)
associated with a spectrum of mild to severe neurological anomalies (e.g. cognitive
deterioration, dysarthria, balance disturbance, areflexia) and sometimes delay of
growth and sexual development.