Catalog
Sphingolipidoses with skin manifestations
No MMS code
Link to WHO Definition
Sphingolipidoses with skin manifestations – http://id.who.int/icd/entity/257306523
A heterogeneous group of conditions including Fabry disease and Gaucher disease types 1 and 2 (see Liver disease due to disorders of lysosomal storage) which may present with skin manifestations.