Alpha-mannosidosis

Preferred Label : Alpha-mannosidosis;

ICD-11 definition : Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.;

ICD-11 synonym : Lysosomal alpha-D-mannosidase deficiency;

Details

Origin ID

1944256516;

UMLS CUI

C0024748;

Currated CISMeF NLP mapping
- Alpha-Mannosidosis [NCIt concept]
- Alpha-mannosidosis [ORDO Disease]
- 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 Descriptor]
- alpha-Mannosidosis [MeSH concept]
- alpha-mannosidosis [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alpha-Mannosidosis [NCIt concept]
- Alpha-mannosidosis [ORDO Disease]
- 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 Descriptor]
- alpha-Mannosidosis [MeSH concept]
- alpha-mannosidosis [DO Concept]

Keyword's position in hierarchy(ies) :

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