alpha-Mannosidosis

Preferred Label : alpha-Mannosidosis;

MeSH definition : An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.;

MeSH synonym : alpha-mannosidase deficiency; mannosidosis, alpha b, lysosomal; alpha mannosidase deficiency; Lysosomal alpha-D-Mannosidase Deficiency; alpha-D-Mannosidase Deficiencies, Lysosomal; alpha-D-Mannosidase Deficiency, Lysosomal; Mannosidosis, alpha B Lysosomal; alpha Mannosidase B Deficiency; Deficiencies, Lysosomal alpha-D-Mannosidase; Deficiency, Lysosomal alpha-D-Mannosidase; Lysosomal alpha D Mannosidase Deficiency; alpha-mannosidoses; deficiencies, alpha-mannosidase; deficiency, alpha-mannosidase; alpha-mannosidase deficiencies; Lysosomal alpha-D-Mannosidase Deficiencies; alpha mannosidosis; Alpha-Mannosidase B deficiency; Alpha-Mannosidosis, type I; lysosomal alpha B mannosidosis; Alpha-D-Mannosidosis;

Details

Origin ID

D008363;

UMLS CUI

C0024748;

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)
- Mannosidosis (disorder) [SNOMED CT concept]
- mannosidosis, nos [SNOMED Notion]
CISMeF manual mappings
- Deficiency of alpha-mannosidase (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Alpha-Mannosidosis [NCIt concept]
- Alpha-mannosidosis [ICD-11 More detail]
- Alpha-mannosidosis [MedDRA Preferred Term]
- Alpha-mannosidosis [ORDO Disease]
- Mannosidosis, alpha b, lysosomal [OMIM Phenotype]
- alpha mannosidosis [Disease (Nov.)]
- alpha-mannosidosis [DO Concept]
DO Cross reference
- alpha-mannosidosis [DO Concept]
Has phenotype(s) (HPO)
- Genu varus [HPO term]
- Retinal degeneration, progressive [HPO term]
- Severe growth retardation [HPO term]
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]
ORDO relation(s)
- Alpha-mannosidosis [ORDO Disease]
Record concept(s)
- alpha-Mannosidosis [MeSH concept]
Related MeSH Supplementary Concept(s)
- alpha-Mannosidosis, type II [MeSH Supplementary Concept]
- alpha-mannosidosis type 1 [MeSH Supplementary Concept]
- alpha-mannosidosis, type 2 [MeSH Supplementary Concept]
See also
- alpha-Mannosidase [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alpha-Mannosidosis [NCIt concept]
- Alpha-mannosidosis [ORDO Disease]
- Alpha-mannosidosis [ICD-11 More detail]
- Alpha-mannosidosis [MedDRA Preferred Term]
- Deficiency of alpha-mannosidase (disorder) [SNOMED CT concept]
- Mannosidosis, alpha b, lysosomal [OMIM Phenotype]
- alpha mannosidosis [Disease (Nov.)]
- alpha-mannosidosis [DO Concept]

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