ICD-11 code : 8A44.4;
Preferred Label : Krabbe disease;
ICD-11 definition : Krabbe disease, also called globoid cell leukodystrophy, is a sphingolipidosis resulting
from galactosylceramidase (or galactocerebrosidase) deficiency, a lysosomal enzyme
that catabolizes a major lipid component of myelin. The disease leads to demyelination
of the central and peripheral nervous system which is rapidly progressive from the
first year of life, but juvenile, adolescent or adult onset forms have also been reported,
with a more variable rate of progression.;
ICD-11 synonym : Diffuse globoid body sclerosis; Krabbe's leukodystrophy; Krabbe brain sclerosis; Galactosylceramide beta-galactosidase deficiency; Galactocerebrosidase deficiency; Globoid cell leukodystrophy;
Origin ID : 796317173;
UMLS CUI : C0023521;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to BTNT
Krabbe disease, also called globoid cell leukodystrophy, is a sphingolipidosis resulting
from galactosylceramidase (or galactocerebrosidase) deficiency, a lysosomal enzyme
that catabolizes a major lipid component of myelin. The disease leads to demyelination
of the central and peripheral nervous system which is rapidly progressive from the
first year of life, but juvenile, adolescent or adult onset forms have also been reported,
with a more variable rate of progression.
