lysosomal storage diseases

Preferred Label : lysosomal storage diseases;

MeSH definition : Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.;

MeSH synonym : lysosomal enzyme disorders; disease, lysosomal storage; disorders, lysosomal enzyme; lysosomal storage disease; disorder, lysosomal enzyme; diseases, lysosomal storage; enzyme disorders, lysosomal; enzyme disorder, lysosomal; lysosomal enzyme disorder;

MeSH annotation : an inborn error of metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES;

Details

Origin ID

D016464;

UMLS CUI

C0085078;

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)
- Lysosomal storage disease [PASCAL descriptor]
- lysosomal storage disease [DO Concept]
Currated CISMeF NLP mapping
- Disorder of lysosomal enzyme (disorder) [SNOMED CT concept]
- Lysosomal Storage Disease [NCIt concept]
- Lysosomal disease [ORDO Disease]
- Lysosomal diseases [ICD-11 Category]
- Lysosomal storage disorders [MedDRA High Level Term]
- Lysosomal storage disorders [LOINC component]
- disorder of lysosomal enzyme, nos [SNOMED Notion]
- lysosomal storage disease [Radlex concept]
DO Cross reference
- lysosomal storage disease [DO Concept]
Manual BTNT mappings - CISMeF
- Alpha-N-acetylgalactosaminidase deficiency [ORDO Disease]
- Disorder of lysosomal amino acid transport [ORDO Disease]
- Lipid storage disease [ORDO Disease]
- Oligosaccharidosis [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Metabolic diseases with epilepsy [ORDO Disease]
- Sucking/swallowing disorder associated with basal ganglia anomalies [ORDO Disease]
Record concept(s)
- lysosomal storage diseases [MeSH concept]
Related MeSH Supplementary Concept(s)
- glutamyl Ribose-5-Phosphate storage disease [MeSH Supplementary Concept]
- lysosomal Alpha-N-Acetylgalactosaminidase deficiency [MeSH Supplementary Concept]
- neuraminidase deficiency with beta-galactosidase deficiency [MeSH Supplementary Concept]
- schindler disease, type I [MeSH Supplementary Concept]
- vacuolar myopathy [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Disorder of lysosomal enzyme (disorder) [SNOMED CT concept]
- Lysosomal Storage Disease [NCIt concept]
- Lysosomal disease [ORDO Disease]
- Lysosomal diseases [ICD-11 Category]
- Lysosomal storage disorder [MedDRA Preferred Term]
- Lysosomal storage disorders [LOINC component]
- Lysosomal storage disorders [MedDRA High Level Term]
- disorder of lysosomal enzyme, nos [SNOMED Notion]
- lysosomal storage disease [Radlex concept]
- lysosomal storage disease [DO Concept]
- lysosome storage disorder [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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