Preferred Label : Analphalipoproteinaemia;
ICD-11 definition : Tangier disease is a recessively inherited hypoalphalipopproteinemia characterized
by cholesterol deposition in the cornea, tonsils, rectum, liver and spleen, and sometimes
associated with neurologic symptoms.;
ICD-11 synonym : Tangier disease;
Origin ID : 1796662502;
Automatic exact mappings (from CISMeF team)
Tangier disease is a recessively inherited hypoalphalipopproteinemia characterized
by cholesterol deposition in the cornea, tonsils, rectum, liver and spleen, and sometimes
associated with neurologic symptoms.