hypobetalipoproteinemia, familial, apolipoprotein B

Preferred Label : hypobetalipoproteinemia, familial, apolipoprotein B;

MeSH definition : An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption.;

MeSH synonym : apolipoprotein b deficiencies; apolipoprotein b deficiency disease; hypobetalipoproteinemia, familial, apo b; abetalipoproteinemia, normotriglyceridemic, steinbert type; apolipoprotein b deficiency;

Wikipedia link : https://en.wikipedia.org/wiki/Apolipoprotein b deficiency;

Details

Origin ID

D052476;

UMLS CUI

C1704299;

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)
- Abetalipoproteinemia [OMIM Phenotype]
- Abetalipoproteinemia (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Familial hypobetalipoproteinemia [ORDO Disease]
- Familial hypobetalipoproteinemia (disorder) [SNOMED CT concept]
- Hypobetalipoproteinemia, familial, 2 [OMIM Phenotype]
- familial hypobetalipoproteinemia [SNOMED Notion]
Manual NTBT mappings (CISMeF)
- Intestinal disease due to fat malabsorption [ORDO Disease]
Record concept(s)
- hypobetalipoproteinemia, familial, apolipoprotein B [MeSH concept]
Related MeSH Supplementary Concept(s)
- Hypobetalipoproteinemia, Familial, 1 [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Abetalipoproteinaemia [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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