Preferred Label : Tay-Sachs disease;
ICD-11 definition : GM2 gangliosidosis, variant B or Tay-Sachs disease is a progressive neurodegenerative
disorder characterized by accumulation of G2 gangliosides due to hexosaminidase A
deficiency. Three variants have been described according to age of onset. The infantile
form (type 1 that begins between 3 and 6 months of age), the juvenile form (type 2
with onset between ages 2 and 6), and the adult or chronic form (type 3,which may
begin around the age of 10);
ICD-11 synonym : Hexosaminidase A deficiency; GM2-gangliosidosis, B, B1, AB variant;
Origin ID : 215008783;
UMLS CUI : C0039373;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
GM2 gangliosidosis, variant B or Tay-Sachs disease is a progressive neurodegenerative
disorder characterized by accumulation of G2 gangliosides due to hexosaminidase A
deficiency. Three variants have been described according to age of onset. The infantile
form (type 1 that begins between 3 and 6 months of age), the juvenile form (type 2
with onset between ages 2 and 6), and the adult or chronic form (type 3,which may
begin around the age of 10)
