Preferred Label : Niemann-Pick disease type A;
ICD-11 definition : Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal
recessive lysosomal disease, and is characterized clinically by onset in infancy or
early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive
neurodegenerative disorders.;
Origin ID : 530611243;
UMLS CUI : C0268242;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal
recessive lysosomal disease, and is characterized clinically by onset in infancy or
early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive
neurodegenerative disorders.
