Mannosidosis - CISMeF

Preferred Label : Mannosidosis;

NCIt definition : A rare autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzymes alpha-D-mannosidase or beta-mannosidase. Clinical signs and symptoms include hepatomegaly, splenomegaly, hearing loss, mental retardation, skeletal abnormalities, and recurrent respiratory infections.;

Details

Origin ID

C61275;

UMLS CUI

C1257960;

Automatic exact mappings (from CISMeF team)
- Defects in glycoprotein degradation [ICD-10 Sub-category]
- Defects in glycoprotein degradation [ICD-10 Sub-category (who)]
Currated CISMeF NLP mapping
- Mannosidosis [PASCAL descriptor]
- Mannosidosis (disorder) [SNOMED CT concept]
- mannosidase deficiency diseases [MeSH concept]
- mannosidase deficiency diseases [MeSH Descriptor]
- mannosidosis [Disease (Nov.)]
- mannosidosis, nos [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mannosidosis [PASCAL descriptor]
- Mannosidosis (disorder) [SNOMED CT concept]
- mannosidase deficiency diseases [MeSH Descriptor]
- mannosidase deficiency diseases [MeSH concept]
- mannosidosis [Disease (Nov.)]
- mannosidosis, nos [SNOMED Notion]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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