Niemann-Pick disease, type B

Preferred Label : Niemann-Pick disease, type B;

MeSH definition : An allelic disorder of TYPE A NIEMANN-PICK DISEASE, a late-onset form. It is also caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE but clinical signs involve only visceral organs (non-neuropathic type).;

MeSH synonym : niemann-pick disease, non-neuronopathic type; niemann pick's disease type b; type b niemann pick disease; niemann-pick's disease type b; niemann-pick disease, visceral; niemann pick disease, visceral; type b niemann-pick disease; niemann pick disease, non neuronopathic type; niemann pick disease, type B;

CISMeF synonym : Niemann-Pick's disease, type B;

MeSH hyponym : Niemann-Pick disease, type E; Niemann Pick Disease, Type E; Niemann-Pick's Disease Type E; Niemann Pick's Disease Type E; Niemann-Pick Disease, Adult Non-Neuronopathic; Niemann Pick Disease, Adult Non Neuronopathic;

Details

Origin ID

D052537;

UMLS CUI

C0268243;

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)
- Chronic neurovisceral acid sphingomyelinase deficiency [ORDO Disease]
- Niemann-pick disease, type a [OMIM Phenotype]
Currated CISMeF NLP mapping
- Chronic visceral acid sphingomyelinase deficiency [ORDO Disease]
- Niemann Pick disease type B [Disease (Nov.)]
- Niemann-Pick Disease, Type B [NCIt concept]
- Niemann-Pick disease type B [DO Concept]
- Niemann-Pick disease type B [ICD-11 More detail]
- Niemann-Pick disease, type B (disorder) [SNOMED CT concept]
- Niemann-pick disease, type b [OMIM Phenotype]
- niemann-pick disease, type b [SNOMED Notion]
False automatic mappings
- Niemann-Pick disease, type E (disorder) [SNOMED CT concept]
- niemann-pick disease, type a [SNOMED Notion]
- niemann-pick disease, type c [SNOMED Notion]
- niemann-pick disease, type d [SNOMED Notion]
- niemann-pick disease, type e [SNOMED Notion]
Has phenotype(s) (HPO)
- Large vacuolated foam cells ('NP cells') on bone marrow biopsy [HPO term]
Manual NTBT mappings (CISMeF)
- Rare hereditary metabolic disease with peripheral neuropathy [ORDO Disease]
ORDO relation(s)
- Chronic visceral acid sphingomyelinase deficiency [ORDO Disease]
Record concept(s)
- Niemann-Pick disease, type B [MeSH concept]
- Niemann-Pick disease, type E [MeSH concept]
See also inter- (CISMeF)
- Niemann Pick disease type E [Disease (Nov.)]
- Niemann-Pick disease type E [ORDO Disease]
- Niemann-pick disease, type c1 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chronic visceral acid sphingomyelinase deficiency [ORDO Disease]
- Niemann Pick disease type B [Disease (Nov.)]
- Niemann-Pick Disease, Type B [NCIt concept]
- Niemann-Pick disease type B [DO Concept]
- Niemann-Pick disease type B [ICD-11 More detail]
- Niemann-Pick disease, type B (disorder) [SNOMED CT concept]
- Niemann-pick disease, type b [OMIM Phenotype]
- niemann-pick disease, type b [SNOMED Notion]

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