Fucosidosis - CISMeF

Preferred Label : Fucosidosis;

ICD-11 definition : Fucosidosis is a very rare lysosomal storage disorder belonging to the group of oligosaccharidoses or glycoproteinoses. Manifestations include facial dysmorphism, dysostosis multiplex, moderate hepatomegaly, severe intellectual deficit, deafness, and according to age, angiokeratomas. Every intermediate form exists, ranging from severe (type 1: onset between 3 and 18 months of age) to moderate (type 2, with a slower progression).;

ICD-11 synonym : Alpha-L-fucosidase deficiency;

Détails

Origin ID

1470242510;

UMLS CUI

C0016788;

Currated CISMeF NLP mapping
- Fucosidosis [OMIM Phenotype]
- Fucosidosis [NCIt concept]
- Fucosidosis [PASCAL descriptor]
- Fucosidosis [ORDO Disease]
- Fucosidosis (disorder) [SNOMED CT concept]
- fucosidosis [DO Concept]
- fucosidosis [MeSH concept]
- fucosidosis [MeSH Descriptor]
- fucosidosis [Disease (Nov.)]
- fucosidosis, nos [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fucosidosis [OMIM Phenotype]
- Fucosidosis [NCIt concept]
- Fucosidosis [ORDO Disease]
- Fucosidosis [PASCAL descriptor]
- Fucosidosis (disorder) [SNOMED CT concept]
- fucosidosis [DO Concept]
- fucosidosis [MeSH Descriptor]
- fucosidosis [MeSH concept]
- fucosidosis [Disease (Nov.)]
- fucosidosis, nos [SNOMED Notion]
Validated automatic mappings to NTBT
- Defects in glycoprotein degradation [ICD-10 Sub-category]
- Defects in glycoprotein degradation [ICD-10 Sub-category (who)]

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

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