Preferred Label : Encephalopathy due to prosaposin deficiency;
ICD-11 definition : Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging
to the group of sphingolipidoses, and is a severe neurovisceral disease manifesting
immediately after birth and following a rapidly progressive fatal course.;
ICD-11 synonym : Combined prosaposin deficiency;
Origin ID : 935370911;
UMLS CUI : C4303785;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging
to the group of sphingolipidoses, and is a severe neurovisceral disease manifesting
immediately after birth and following a rapidly progressive fatal course.