Preferred Label : Pycnodysostosis;
ICD-11 definition : Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of
the skeleton, short stature and brittle bones.;
ICD-11 synonym : Cathepsin K deficiency;
Origin ID : 1329974152;
Automatic exact mappings (from CISMeF team)
Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of
the skeleton, short stature and brittle bones.
