niemann-pick diseases

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;

MeSH annotation : note specific types are available;

Wikipedia link : https://en.wikipedia.org/wiki/Niemann–Pick disease, SMPD1-associated;

Details

Origin ID

D009542;

UMLS CUI

C0028064;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Infantile neurovisceral acid sphingomyelinase deficiency [ORDO Disease]
- Niemann-Pick disease [ACR pathology]
- Niemann-Pick disease [ACR pathology]
- Niemann-Pick disease type D [ORDO Disease]
- Niemann-Pick disease, type A (disorder) [SNOMED CT concept]
- Niemann-Pick disease, type D (disorder) [SNOMED CT concept]
- Niemann-Pick disease, type E (disorder) [SNOMED CT concept]
- Niemann-pick disease, type a [OMIM Phenotype]
- Niemann-pick disease, type b [OMIM Phenotype]
- Other sphingolipidosis [ICD-10 Sub-category]
- Other sphingolipidosis [ICD-10 Sub-category (who)]
- genetic brain disorders [MedlinePlus Topic]
- niemann-pick disease, type a [SNOMED Notion]
- niemann-pick disease, type d [SNOMED Notion]
- niemann-pick disease, type e [SNOMED Notion]
Currated CISMeF NLP mapping
- Niemann Pick disease [Disease (Nov.)]
- Niemann-Pick Disease [NCIt concept]
- Niemann-Pick disease [PASCAL descriptor]
- Niemann-Pick disease [DO Concept]
- Niemann-Pick disease [ICD-11 More detail]
- Niemann-Pick disease [MedDRA Preferred Term]
- Sphingomyelin lipidosis [MedDRA LLT]
- Sphingomyelin/cholesterol lipidosis (disorder) [SNOMED CT concept]
- sphingomyelin/cholesterol lipidosis, nos [SNOMED Notion]
DO Cross reference
- Niemann-Pick disease [DO Concept]
Indexing information
- NPC1 protein, human [MeSH Supplementary Concept]
- NPC1 protein, rat [MeSH Supplementary Concept]
- NPC1L1 protein, human [MeSH Supplementary Concept]
- NPC2 protein, human [MeSH Supplementary Concept]
- NPC2 protein, rat [MeSH Supplementary Concept]
- Npc1 protein, mouse [MeSH Supplementary Concept]
- Npc1a protein, Drosophila [MeSH Supplementary Concept]
- Npc2a protein, Drosophila [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Metabolic disease with macular cherry-red spot [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
MedlinePlus topic(s)
- genetic brain disorders [MedlinePlus Topic]
Record concept(s)
- ASM-Deficient Niemann-Pick Disease [MeSH concept]
- Acid Sphingomyelinase-deficient Niemann-Pick Disease [MeSH concept]
- Niemann-Pick diseases [MeSH concept]
Related MeSH Supplementary Concept(s)
- Niemann-Pick disease, intermediate, protracted neurovisceral [MeSH Supplementary Concept]
- Niemann-Pick disease, intermediate, with visceral involvement and rapid progression [MeSH Supplementary Concept]
- Niemann-Pick disease, type F [MeSH Supplementary Concept]
See also
- sea-blue histiocyte syndrome [MeSH Descriptor]
- sphingomyelin phosphodiesterase [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Niemann Pick disease [Disease (Nov.)]
- Niemann-Pick Disease [NCIt concept]
- Niemann-Pick disease [MedDRA Preferred Term]
- Niemann-Pick disease [DO Concept]
- Niemann-Pick disease [PASCAL descriptor]
- Niemann-Pick disease [ICD-11 More detail]
- Sphingomyelin lipidosis [MedDRA LLT]
- Sphingomyelin/cholesterol lipidosis (disorder) [SNOMED CT concept]
- sphingomyelin/cholesterol lipidosis, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Niemann-Pick disease type E [ORDO Disease]

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