|
1 / 1
|
DeCS
|
|
 |
|
Descriptor English:
|
|
Lysosomal Storage Diseases
|
|
Descriptor Spanish:
|
|
enfermedades por almacenamiento lisosómico
|
|
Descriptor Portuguese:
|
|
Doenças por Armazenamento dos Lisossomos
|
|
Synonyms English:
|
|
Disease, Lysosomal Storage
Diseases, Lysosomal Storage
Disorder, Lysosomal Enzyme
Disorders, Lysosomal Enzyme
Enzyme Disorder, Lysosomal
Enzyme Disorders, Lysosomal
Lysosomal Enzyme Disorder
Lysosomal Enzyme Disorders
Lysosomal Storage Disease
|
|
Tree Number:
|
|
C16.320.565.595
C18.452.648.595
|
|
Definition English:
|
|
Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates. |
|
Indexing Annotation English:
|
|
an inborn error of metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
|
|
History Note English:
|
|
92
|
|
Allowable Qualifiers English:
|
|
|
|
Record Number:
|
|
30000
|
|
Unique Identifier:
|
|
D016464
|
Occurrence in VHL:
|
|
|
Similar:
|
|
DeCS
|