Preferred Label : Niemann-Pick disease;
ICD-11 definition : Niemann-Pick disease is an autosomal recessive lysosomal storage disorder caused by
the deficient activity of acid sphingomyelinase, encompassing two clinically distinct
forms: type A and type B. Type A is characterized by an early onset, within the first
year of life, digestive disorders, failure to thrive, major hepatosplenomegaly, and
severe neurologic symptoms (psychomotor retardation, hypotonia). The severe neurological
disorders and pulmonary infections lead to an early death, often around the age of
4. In type B ), onset occurs at any age (until adulthood) and the most constant sign
is hepatosplenomegaly, which can be associated with pulmonary symptoms.;
ICD-11 synonym : Sphingomyelinase deficiency;
Origin ID : 398872780;
UMLS CUI : C0028064;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
Niemann-Pick disease is an autosomal recessive lysosomal storage disorder caused by
the deficient activity of acid sphingomyelinase, encompassing two clinically distinct
forms: type A and type B. Type A is characterized by an early onset, within the first
year of life, digestive disorders, failure to thrive, major hepatosplenomegaly, and
severe neurologic symptoms (psychomotor retardation, hypotonia). The severe neurological
disorders and pulmonary infections lead to an early death, often around the age of
4. In type B ), onset occurs at any age (until adulthood) and the most constant sign
is hepatosplenomegaly, which can be associated with pulmonary symptoms.
