Preferred Label : Hypophosphatasia;
ICD-11 definition : Hypophosphatasia is a rare inherited disorder characterized by defective bone and
teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity.
The symptoms are highly variable in their clinical expression, which ranges from stillbirth
without mineralized bone to early loss of teeth without bone manifestations.;
Origin ID : 422012968;
Automatic exact mappings (from CISMeF team)
Hypophosphatasia is a rare inherited disorder characterized by defective bone and
teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity.
The symptoms are highly variable in their clinical expression, which ranges from stillbirth
without mineralized bone to early loss of teeth without bone manifestations.
