fucosidosis - CISMeF

Preferred Label : fucosidosis;

MeSH definition : An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31);

MeSH synonym : alpha-L-Fucosidase deficiency; deficiency diseases, alpha-fucosidase; diseases, alpha-l-fucosidase deficiency; alpha-fucosidase deficiency diseases; disease, alpha-l-fucosidase deficiency; alpha-l-fucosidase deficiency disease; fucosidase deficiency diseases; deficiency disease, fucosidase; deficiency disease, alpha-l-fucosidase; deficiency diseases, fucosidase; alpha l fucosidase deficiency disease; disease, fucosidase deficiency; deficiency diseases, alpha-l-fucosidase; alpha-fucosidase deficiency disease; diseases, alpha-fucosidase deficiency; alpha fucosidase deficiency disease; alpha-l-fucosidase deficiency diseases; diseases, fucosidase deficiency; deficiency disease, alpha-fucosidase; deficiency disease, alpha fucosidase; deficiency disease, alpha l fucosidase; disease, alpha-fucosidase deficiency; fucosidase deficiency disease; Alpha-Fucosidase deficiency; fucosidase deficiency;

CISMeF synonym : alpha L fucosidase deficiency; alpha-L-Fucosidase deficiencies; deficiencies, alpha-L-Fucosidase; deficiency, alpha-L-Fucosidase; 1, fucosidosis type;

MeSH hyponym : fucosidosis type I; fucosidosis type II; Fucosidosis Type 1; Fucosidosis Type 1s; Type 1, Fucosidosis; Type 1s, Fucosidosis; Fucosidosis, Infantile; Infantile Fucosidosis; Fucosidosis, Juvenile; Juvenile Fucosidosis;

Wikipedia link : https://en.wikipedia.org/wiki/Fucosidosis;

Details

Origin ID

D005645;

UMLS CUI

C0016788;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Infantile fucosidosis (disorder) [SNOMED CT concept]
- Juvenile fucosidosis (disorder) [SNOMED CT concept]
- infantile fucosidosis [SNOMED Notion]
- juvenile fucosidosis [SNOMED Notion]
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 [NCIt concept]
- Fucosidosis [OMIM Phenotype]
- Fucosidosis [ORDO Disease]
- Fucosidosis (disorder) [SNOMED CT concept]
- fucosidosis [Disease (Nov.)]
- fucosidosis [DO Concept]
- fucosidosis, nos [SNOMED Notion]
DO Cross reference
- fucosidosis [DO Concept]
Has phenotype(s) (HPO)
- Full lips [HPO term]
Manual NTBT mappings (CISMeF)
- Lysosomal disease with hypertrophic cardiomyopathy [ORDO Disease]
- Lysosomal storage disease with skeletal involvement [ORDO Disease]
- Oligosaccharidosis [ORDO Disease]
ORDO relation(s)
- Fucosidosis [ORDO Disease]
Record concept(s)
- fucosidosis [MeSH concept]
- fucosidosis type I [MeSH concept]
- fucosidosis type II [MeSH concept]
See also
- alpha-L-Fucosidase [MeSH Descriptor]
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 [NCIt concept]
- Fucosidosis (disorder) [SNOMED CT concept]
- fucosidosis [DO Concept]
- fucosidosis [Disease (Nov.)]
- fucosidosis, nos [SNOMED Notion]

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