mannosidase deficiency diseases

Preferred Label : mannosidase deficiency diseases;

MeSH definition : Diseases caused by the loss of one or more enzymes involved in the hydrolysis of mannoside linkages (MANNOSIDASES). The defects in enzyme activity are primarily associated with genetic mutation of the genes that codes for a particular mannosidase isoenzyme.;

MeSH synonym : mannosidase deficiency disease; deficiency syndrome, mannosidase; deficiency diseases, mannosidase; deficiency syndromes, mannosidase; deficiency disease, mannosidase; diseases, mannosidase deficiency; mannosidase deficiency syndromes; mannosidase deficiency syndrome; mannosidosis; Mannosidoses;

Details

Origin ID

D044904;

UMLS CUI

C1257960;

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)
- Alpha-mannosidosis [ORDO Disease]
- Defects in glycoprotein degradation [ICD-10 Sub-category (who)]
- Defects in glycoprotein degradation [ICD-10 Sub-category]
Currated CISMeF NLP mapping
- Mannosidosis [NCIt concept]
- Mannosidosis [PASCAL descriptor]
- Mannosidosis (disorder) [SNOMED CT concept]
- mannosidosis [Disease (Nov.)]
- mannosidosis, nos [SNOMED Notion]
Manual NTBT mappings (CISMeF)
- Lysosomal disease with hypertrophic cardiomyopathy [ORDO Disease]
- Lysosomal storage disease with skeletal involvement [ORDO Disease]
- Metabolic disease with cataract [ORDO Disease]
- Metabolic disease with cataract [ORDO Disease]
- Metabolic disease with corneal opacity [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Oligosaccharidosis [ORDO Disease]
Record concept(s)
- mannosidase deficiency diseases [MeSH concept]
See also
- mannosidases [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mannosidosis [PASCAL descriptor]
- Mannosidosis [NCIt concept]
- Mannosidosis (disorder) [SNOMED CT concept]
- mannosidosis [Disease (Nov.)]
- mannosidosis, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Mannosidosis, not otherwise specified [ICD-11 More detail]

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