Preferred Label : Angiokeratoma corporis diffusum;
ICD-11 definition : Angiokeratoma corporis diffusum consists in multiple vascular papules located symmetrically
on the lower abdomen, the genitalia, the buttocks, and the thighs in a bathing-trunk
distribution. It is closely associated with and may be the presenting sign of Fabry
disease, a progressive, inherited, multisystem disorder of glycosphingolipid metabolism.
It may also develop in other lysosomal diseases including fucosidosis, alpha-N-acetylgalactosaminidase
deficiency and galactosialidosis.;
Origin ID : 558012563;
Automatic exact mappings (from CISMeF team)
- Validated automatic mappings to NTBT
Angiokeratoma corporis diffusum consists in multiple vascular papules located symmetrically
on the lower abdomen, the genitalia, the buttocks, and the thighs in a bathing-trunk
distribution. It is closely associated with and may be the presenting sign of Fabry
disease, a progressive, inherited, multisystem disorder of glycosphingolipid metabolism.
It may also develop in other lysosomal diseases including fucosidosis, alpha-N-acetylgalactosaminidase
deficiency and galactosialidosis.
