abetalipoproteinemia

Preferred Label : abetalipoproteinemia;

MeSH definition : An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL.;

MeSH synonym : betalipoprotein deficiency disease; microsomal triglyceride transfer protein deficiency disease; bassen kornzweig syndrome; bassen-kornzweig syndrome; bassen-kornzweig disease; bassen kornzweig disease; microsomal triglyceride transfer protein deficiency; betalipoprotein deficiency diseases; deficiency disease, betalipoprotein; deficiency diseases, betalipoprotein; disease, betalipoprotein deficiency; diseases, betalipoprotein deficiency; acanthocytosis; acanthocytoses;

CISMeF synonym : deficiencies, mtp; deficiency, mtp; mtp deficiencies; mtp deficiency;

Wikipedia link : https://en.wikipedia.org/wiki/Acanthocytosis;

Details

Origin ID

D000012;

UMLS CUI

C0000744;

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)
- Lipoprotein deficiency [ICD-10 Sub-category]
- Lipoprotein deficiency [ICD-10 Sub-category (who)]
- Spur cell anemia [MedDRA LLT]
Currated CISMeF NLP mapping
- Abetalipoproteinaemia [ICD-11 More detail]
- Abetalipoproteinaemia [MedDRA Preferred Term]
- Abetalipoproteinemia [PASCAL descriptor]
- Abetalipoproteinemia [MedDRA LLT]
- Abetalipoproteinemia [NCIt concept]
- Abetalipoproteinemia [OMIM Phenotype]
- Abetalipoproteinemia [HPO term]
- Abetalipoproteinemia [ORDO Disease]
- Abetalipoproteinemia (disorder) [SNOMED CT concept]
- Acanthocytosis [PASCAL descriptor]
- Acanthocytosis [HPO term]
- Acanthocytosis [MedDRA LLT]
- Acanthocytosis (finding) [SNOMED CT concept]
- Constitutional hemolytic anemia due to acanthocytosis [ORDO Disease]
- Spur cell anaemia [MedDRA Preferred Term]
- abetalipoproteinemia [DO Concept]
- abetalipoproteinemia [Disease (Nov.)]
- abetalipoproteinemia [SNOMED Notion]
- acanthocytosis [Disease (Nov.)]
DO Cross reference
- abetalipoproteinemia [DO Concept]
HPO term
- Abetalipoproteinemia [HPO term]
Manual BTNT mappings - CISMeF
- McLeod neuroacanthocytosis syndrome [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Autosomal recessive metabolic cerebellar ataxia [ORDO Disease]
- Intestinal disease due to fat malabsorption [ORDO Disease]
- Metabolic disease with pigmentary retinitis [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Rare constitutional hemolytic anemia [ORDO Disease]
- Rare constitutional hemolytic anemia due to a red cell membrane anomaly [ORDO Disease]
- Rare hereditary metabolic disease with peripheral neuropathy [ORDO Disease]
Ne pas confondre avec
- hypobetalipoproteinemias [MeSH Descriptor]
ORDO relation(s)
- Abetalipoproteinemia [ORDO Disease]
Record concept(s)
- abetalipoproteinemia [MeSH concept]
Related MeSH Supplementary Concept(s)
- abetalipoproteinemia neuropathy [MeSH Supplementary Concept]
- wolman disease with hypolipoproteinemia and acanthocytosis [MeSH Supplementary Concept]
See also
- apolipoproteins b [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Abetalipoproteinaemia [ICD-11 More detail]
- Abetalipoproteinaemia [MedDRA Preferred Term]
- Abetalipoproteinemia [OMIM Phenotype]
- Abetalipoproteinemia [ORDO Disease]
- Abetalipoproteinemia [HPO term]
- Abetalipoproteinemia [MedDRA LLT]
- Abetalipoproteinemia [NCIt concept]
- Abetalipoproteinemia (disorder) [SNOMED CT concept]
- abetalipoproteinemia [SNOMED Notion]
- abetalipoproteinemia [DO Concept]
- abetalipoproteinemia [Disease (Nov.)]
Validated automatic mappings to NTBT
- Acanthocytosis [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients