Fucosidosis - CISMeF

Preferred Label : Fucosidosis;

NCIt definition : An autosomal recessive lysosomal storage disease characterized by a defective alpha-L-fucosidase. It results in accumulation of fucose in the tissues. Signs and symptoms include psychomotor retardation, dysostosis multiplex, and neural disturbances.;

Details

Origin ID

C61274;

UMLS CUI

C0016788;

Currated CISMeF NLP mapping
- Defects in glycoprotein degradation [ICD-10 Sub-category]
- Defects in glycoprotein degradation [ICD-10 Sub-category (who)]
- Fucosidosis [PASCAL descriptor]
- Fucosidosis [ICD-11 More detail]
- Fucosidosis [OMIM Phenotype]
- Fucosidosis [ORDO Disease]
- Fucosidosis (disorder) [SNOMED CT concept]
- fucosidosis [Disease (Nov.)]
- fucosidosis [DO Concept]
- fucosidosis [MeSH Descriptor]
- fucosidosis [MeSH concept]
- fucosidosis, nos [SNOMED Notion]
DO Cross reference
- fucosidosis [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fucosidosis [OMIM Phenotype]
- Fucosidosis [ORDO Disease]
- Fucosidosis [PASCAL descriptor]
- Fucosidosis [ICD-11 More detail]
- Fucosidosis (disorder) [SNOMED CT concept]
- fucosidosis [DO Concept]
- fucosidosis [Disease (Nov.)]
- fucosidosis [MeSH concept]
- fucosidosis [MeSH Descriptor]
- fucosidosis, nos [SNOMED Notion]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus 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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