Preferred Label : niemann-pick diseases;
MeSH definition : A group of autosomal recessive disorders in which harmful quantities of lipids accumulate
in the viscera and the central nervous system. They can be caused by deficiencies
of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular
transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There
are various subtypes based on their clinical and genetic differences.;
MeSH synonym : niemann-pick disease; niemann pick disease; niemann pick diseases;
CISMeF synonym : Niemann-Pick;
Wikipedia automatic translation : Niemann–Pick disease, SMPD1-associated;
MeSH hyponym : ASM Deficient Niemann Pick Disease; ASM-Deficient Niemann-Pick Diseases; Disease, ASM-Deficient Niemann-Pick; Diseases, ASM-Deficient Niemann-Pick; Niemann-Pick Disease, ASM-Deficient; Niemann-Pick Diseases, ASM-Deficient; ASM Deficiency; ASM Deficiencies; Deficiencies, ASM; Deficiency, ASM; Acid Sphingomyelinase deficient Niemann Pick Disease; Acid Sphingomyelinase Deficiency; Deficiencies, Acid Sphingomyelinase; Deficiency, Acid Sphingomyelinase; Sphingomyelinase Deficiencies, Acid; Sphingomyelinase Deficiency, Acid; ASM-Deficient Niemann-Pick Disease;
MeSH annotation : note specific types are available;
Wikipedia link : https://en.wikipedia.org/wiki/Niemann–Pick disease, SMPD1-associated;
Origin ID : D009542;
UMLS CUI : C0028064;
Allowable qualifiers
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Indexing information
Manual NTBT mappings (CISMeF)
MedlinePlus topic(s)
Record concept(s)
Related MeSH Supplementary Concept(s)
See also
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to BTNT
A group of autosomal recessive disorders in which harmful quantities of lipids accumulate
in the viscera and the central nervous system. They can be caused by deficiencies
of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular
transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There
are various subtypes based on their clinical and genetic differences.
https://www.has-sante.fr/jcms/p_3431851/fr/xenpozyme-olipudase-alfa-deficit-en-sphingomyelinase-acide
2025
false
false
false
France
evaluation of the transparency committee
sphingomyelin/cholesterol lipidosis, nos
xenpozyme
acid, nos
olipudase alfa
niemann-pick diseases
olipudase alfa
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http://www.npsuisse.ch/fr/
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=FR&Expert=265386
false
false
false
Switzerland
French
association of patients
niemann-pick diseases
switzerland
---
http://www.nnpdf.org/
Canada
English
French
niemann-pick diseases
association of patients
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=79289
2011
France
scientific and technical information
niemann-pick diseases
Niemann-Pick disease, type C
---