Beta-Mannosidosis

Preferred Label : Beta-Mannosidosis;

NCIt definition : An autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzyme beta-mannosidase. It is caused by mutations in the MANBA gene. Common features of this disorder are mental retardation, developmental delays and recurrent respiratory infections.;

Détails

Origin ID

C84596;

UMLS CUI

C4048196;

Currated CISMeF NLP mapping
- Beta-D-mannosidosis (disorder) [SNOMED CT concept]
- Beta-mannosidosis [ICD-11 More detail]
- Beta-mannosidosis [ORDO Disease]
- Mannosidosis, beta a, lysosomal [OMIM Phenotype]
- beta mannosidosis [Disease (Nov.)]
- beta-Mannosidosis [MeSH Descriptor]
- beta-Mannosidosis [MeSH concept]
- beta-mannosidosis [DO Concept]
DO Cross reference
- beta-mannosidosis [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Beta-D-mannosidosis (disorder) [SNOMED CT concept]
- Beta-mannosidosis [ORDO Disease]
- Beta-mannosidosis [ICD-11 More detail]
- Mannosidosis, beta a, lysosomal [OMIM Phenotype]
- beta mannosidosis [Disease (Nov.)]
- beta-Mannosidosis [MeSH Descriptor]
- beta-mannosidosis [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MANBA Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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