Preferred Label : Primary Erythermalgia;
Obsolete resource : true;
NCIt synonyms : PERYTHM; Primary Erythromelalgia;
NCIt definition : An autosomal dominant condition caused by mutation(s) in the SCN9A gene, encoding
sodium channel protein type 9 subunit alpha. It is characterized by episodes of recurrent
warmth, redness, and burning sensations in the extremities.;
NCIt note : See 'Primary Erythromelalgia(C125383)';
Concept status : Retired_Concept;
Origin ID : C147531;
UMLS CUI : C0014805;
Semantic type(s)
UMLS correspondences (same concept)