Preferred Label : Canavan disease;
ICD-11 definition : Canavan's disease or spongy degeneration of the central nervous system or aspartoacylase
deficiency is an autosomal recessive neurological degeneration characterized by axial
hypotonia and macrocephaly appear between the 2nd and 4th months in infantile forms,
later on in the juvenile form. Neurological degeneration continues with spasticity,
opisthotonos, loss of contact with the outer world, sleep disorders, blindness, and
convulsions.;
ICD-11 synonym : Aspartoacylase deficiency; Canavan-van Bogaert-Bertrand disease; Spongy degeneration of central nervous system;
Origin ID : 1576870846;
UMLS CUI : C0206307;
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 NTBT
Canavan's disease or spongy degeneration of the central nervous system or aspartoacylase
deficiency is an autosomal recessive neurological degeneration characterized by axial
hypotonia and macrocephaly appear between the 2nd and 4th months in infantile forms,
later on in the juvenile form. Neurological degeneration continues with spasticity,
opisthotonos, loss of contact with the outer world, sleep disorders, blindness, and
convulsions.
