Alpha-Mannosidosis

Preferred Label : Alpha-Mannosidosis;

NCIt definition : An autosomal recessive lysosomal storage disease characterized by deficient activity of the enzyme alpha-D-mannosidase. There is a wide range of signs and symptoms including hepatomegaly, splenomegaly, hearing loss, respiratory infections, mental retardation, skeletal abnormalities, leveled nasal bridge and protruding forehead.;

Détails

Origin ID

C84548;

UMLS CUI

C0024748;

Currated CISMeF NLP mapping
- Alpha-mannosidosis [ICD-11 More detail]
- Alpha-mannosidosis [MedDRA Preferred Term]
- Alpha-mannosidosis [ORDO Disease]
- Deficiency of alpha-mannosidase (disorder) [SNOMED CT concept]
- Mannosidosis, alpha b, lysosomal [OMIM Phenotype]
- alpha mannosidosis [Disease (Nov.)]
- alpha-Mannosidosis [MeSH Descriptor]
- alpha-Mannosidosis [MeSH concept]
- alpha-mannosidosis [DO Concept]
DO Cross reference
- alpha-mannosidosis [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same 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 [MeSH concept]
- alpha-Mannosidosis [MeSH Descriptor]
- alpha-mannosidosis [DO Concept]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MAN2B1 Gene [NCIt concept]

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

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