Niemann-Pick disease, type A

Preferred Label : Niemann-Pick disease, type A;

MeSH definition : The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage.;

MeSH synonym : niemann-pick disease, acute neurovisceral form; niemann-pick disease, acute neuronopathic form; sphingomyelinase deficiency diseases; niemann pick disease, acute neuronopathic form; type a niemann-pick disease; niemann pick disease, neuronopathic type; classical niemann-pick disease; type a niemann pick disease; niemann pick disease, acute neurovisceral form; niemann-pick's disease type a; niemann pick's disease type a; sphingomyelinase deficiency disease; classical niemann pick disease; niemann-pick disease, classical; niemann-pick disease, neuronopathic type; niemann pick disease, type A; sphingomyelin lipidosis; lipidoses, sphingomyelin; lipidosis, sphingomyelin; sphingomyelin lipidoses; sphingomyelinase deficiency; deficiencies, sphingomyelinase; deficiency, sphingomyelinase; sphingomyelinase deficiencies; neuronal cholesterol lipidosis; cholesterol lipidoses, neuronal; cholesterol lipidosis, neuronal; lipidoses, neuronal cholesterol; lipidosis, neuronal cholesterol; neuronal cholesterol lipidoses; ophthalmoplegia, supraoptic vertical; ophthalmoplegias, supraoptic vertical; supraoptic vertical ophthalmoplegia; supraoptic vertical ophthalmoplegias; vertical ophthalmoplegia, supraoptic; vertical ophthalmoplegias, supraoptic; Sphingomyelin Cholesterol Lipidosis; Cholesterol Lipidoses, Sphingomyelin; Cholesterol Lipidosis, Sphingomyelin; Lipidoses, Sphingomyelin Cholesterol; Lipidosis, Sphingomyelin Cholesterol; Sphingomyelin Cholesterol Lipidoses;

CISMeF synonym : Niemann-Pick's disease, type A; Sphingomyelin/Cholesterol lipidoses; Sphingomyelin/Cholesterol lipidosis; lipidoses, Sphingomyelin/Cholesterol; lipidosis, Sphingomyelin/Cholesterol;

Details

Origin ID

D052536;

UMLS CUI

C0268242;

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)
- Niemann-Pick Disease [NCIt concept]
- Niemann-Pick disease [DO Concept]
- Niemann-Pick disease [ICD-11 More detail]
- Niemann-Pick disease [MedDRA Preferred Term]
- Niemann-Pick disease, type C (disorder) [SNOMED CT concept]
- Other sphingolipidosis [ICD-10 Sub-category (who)]
- Sphingomyelin lipidosis [MedDRA LLT]
- Sphingomyelin/cholesterol lipidosis (disorder) [SNOMED CT concept]
- niemann-pick disease, type b [SNOMED Notion]
- niemann-pick disease, type c [SNOMED Notion]
- niemann-pick disease, type d [SNOMED Notion]
- niemann-pick disease, type e [SNOMED Notion]
- sphingomyelin/cholesterol lipidosis, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- Infantile neurovisceral acid sphingomyelinase deficiency [ORDO Disease]
- Niemann Pick disease type A [Disease (Nov.)]
- Niemann-Pick Disease, Type A [NCIt concept]
- Niemann-Pick disease type A [DO Concept]
- Niemann-Pick disease type A [ICD-11 More detail]
- Niemann-Pick disease, type A (disorder) [SNOMED CT concept]
- Niemann-pick disease, type a [OMIM Phenotype]
- niemann-pick disease, type a [SNOMED Notion]
Has phenotype(s) (HPO)
- Feeding difficulties [HPO term]
- Large vacuolated foam cells ('NP cells') on bone marrow biopsy [HPO term]
- Neonatal jaundice [HPO term]
Manual NTBT mappings (CISMeF)
- Metabolic disease with macular cherry-red spot [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
ORDO relation(s)
- Infantile neurovisceral acid sphingomyelinase deficiency [ORDO Disease]
Record concept(s)
- Niemann-Pick disease, type A [MeSH concept]
See also inter- (CISMeF)
- Niemann Pick disease type C [Disease (Nov.)]
- Niemann-pick disease, type c1 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile neurovisceral acid sphingomyelinase deficiency [ORDO Disease]
- Niemann Pick disease type A [Disease (Nov.)]
- Niemann-Pick Disease, Type A [NCIt concept]
- Niemann-Pick disease type A [DO Concept]
- Niemann-Pick disease type A [ICD-11 More detail]
- Niemann-Pick disease, type A (disorder) [SNOMED CT concept]
- Niemann-pick disease, type a [OMIM Phenotype]
- niemann-pick disease, type a [SNOMED Notion]
Validated automatic mappings to NTBT
- Niemann Pick disease [Disease (Nov.)]

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