lipid metabolism, inborn errors

Preferred Label : lipid metabolism, inborn errors;

MeSH definition : Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.;

MeSH synonym : lipid metabolism, inborn error;

MeSH annotation : coordinate IM with specific lipid /metab (IM); DF: LIPID METAB INBORN ERR; coordinate with specific lipid /metab;

Details

Origin ID

D008052;

UMLS CUI

C0023772;

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]
Currated CISMeF NLP mapping
- Inborn error of lipid metabolism [MedDRA Preferred Term]
- Inborn errors of lipid metabolism [MedDRA High Level Term]
- Inborn errors of lipid metabolism [ICD-11 Category]
- inborn error of lipid metabolism [Disease (Nov.)]
DO Cross reference
- lipid metabolism disorder [DO Concept]
Record concept(s)
- lipid metabolism, inborn errors [MeSH concept]
Related MeSH Supplementary Concept(s)
- 2,4-Dienoyl-CoA reductase deficiency [MeSH Supplementary Concept]
- Acetyl-Coa carboxylase deficiency [MeSH Supplementary Concept]
- Alpha-Methylacyl-CoA racemase deficiency [MeSH Supplementary Concept]
- Carnitine-Acylcarnitine translocase deficiency [MeSH Supplementary Concept]
- Chanarin-Dorfman Syndrome [MeSH Supplementary Concept]
- Lp(A) deficiency, congenital [MeSH Supplementary Concept]
- VLCAD deficiency [MeSH Supplementary Concept]
- apolipoprotein E, deficiency or defect of [MeSH Supplementary Concept]
- carnitine palmitoyl transferase 1A deficiency [MeSH Supplementary Concept]
- carnitine palmitoyltransferase II deficiency, Late-Onset [MeSH Supplementary Concept]
- carnitine palmitoyltransferase II deficiency, infantile [MeSH Supplementary Concept]
- cholesteryl ester transfer protein deficiency [MeSH Supplementary Concept]
- cytosolic acetoacetyl-CoA thiolase deficiency [MeSH Supplementary Concept]
- desmosterolosis [MeSH Supplementary Concept]
- lipase deficiency combined [MeSH Supplementary Concept]
- long-chain acyl-CoA dehydrogenase deficiency [MeSH Supplementary Concept]
- medium chain acyl CoA dehydrogenase deficiency [MeSH Supplementary Concept]
- myopathy with abnormal lipid metabolism [MeSH Supplementary Concept]
- neutral lipid storage disease with myopathy [MeSH Supplementary Concept]
- peroxisomal ACYL-COA oxidase deficiency [MeSH Supplementary Concept]
- short chain acyl CoA dehydrogenase deficiency [MeSH Supplementary Concept]
- sitosterolemia [MeSH Supplementary Concept]
- trifunctional protein deficiency with myopathy and neuropathy [MeSH Supplementary Concept]
- triglyceride storage disease, type I [MeSH Supplementary Concept]
- triglyceride storage disease, type II [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- lipid metabolism disorders [MeSH Descriptor]
- lipids [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Inborn error of lipid metabolism [MedDRA Preferred Term]
- Inborn errors of lipid metabolism [MedDRA High Level Term]
- Inborn errors of lipid metabolism [ICD-11 Category]
- inborn error of lipid metabolism [Disease (Nov.)]
- lipid metabolism disorder [DO Concept]

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