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The Government of Canada’s terminology and linguistic data bank.
FANCONIS SYNDROME [3 records]
Record 1 - internal organization data 2011-12-12
Record 1, English
Record 1, Subject field(s)
- Human Diseases - Various
- Urinary Tract
Record 1, Main entry term, English
- Fanconi's syndrome
1, record 1, English, Fanconi%27s%20syndrome
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
Record 1, Textual support, English
Record number: 1, Textual support number: 1 DEF
A general term for a group of diseases marked by dysfunction of the proximal renal tubules, with generalized hyperaminoaciduria, renal glycosuria, hyperphosphaturia, and bicarbonate and water loss. 1, record 1, English, - Fanconi%27s%20syndrome
Record number: 1, Textual support number: 1 OBS
When unassociated with cystinosis, the disorder is also called de Toni-Fanconi syndrome. 1, record 1, English, - Fanconi%27s%20syndrome
Record 1, French
Record 1, Domaine(s)
- Maladies humaines diverses
- Appareil urinaire
Record 1, Main entry term, French
- syndrome de Fanconi
1, record 1, French, syndrome%20de%20Fanconi
correct, masculine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
Record 1, Textual support, French
Record number: 1, Textual support number: 1 DEF
Il s’agit d’une tubulopathie proximale (hypouricémie, hypophosphatémie par fuite urinaire, glycosurie, aminoacidurie et acidose tubulaire proximale), liée à la précipitation (souvent sous forme de cristaux) de chaînes légères kappa dans le compartiment endo-lysosomal du TCP [tube contourné proximal]. 1, record 1, French, - syndrome%20de%20Fanconi
Record 1, Spanish
Record 1, Textual support, Spanish
Record 2 - internal organization data 2010-03-10
Record 2, English
Record 2, Subject field(s)
- Human Diseases - Various
- Genetics
Record 2, Main entry term, English
- Fanconi's syndrome
1, record 2, English, Fanconi%27s%20syndrome
correct
Record 2, Abbreviations, English
Record 2, Synonyms, English
- Fanconi's anemia 2, record 2, English, Fanconi%27s%20anemia
correct
Record 2, Textual support, English
Record number: 2, Textual support number: 1 DEF
A rare recessive disorder with a poor prognosis, characterized by pancytopenia, bone marrow hypoplasia, and patchy brown skin discoloration due to deposition of melanin, as well as multiple congenital anomalies of the musculoskeletal and genitourinary systems. 1, record 2, English, - Fanconi%27s%20syndrome
Record 2, French
Record 2, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 2, Main entry term, French
- maladie de Fanconi
1, record 2, French, maladie%20de%20Fanconi
correct, feminine noun
Record 2, Abbreviations, French
Record 2, Synonyms, French
- anémie de Fanconi 2, record 2, French, an%C3%A9mie%20de%20Fanconi
correct, feminine noun
Record 2, Textual support, French
Record number: 2, Textual support number: 1 DEF
Affection rare, de transmission héréditaire autosomique récessive, dont les symptômes chez les patients homozygotes associent des malformations congénitales du squelette (anomalies hexadactyles), des reins (fusionnés en fer à cheval), la présence de taches pigmentées sur la peau et surtout une pancytopénie progressive, par insuffisance de production de la moelle osseuse apparaissant au cours de la première décennie de la vie. 1, record 2, French, - maladie%20de%20Fanconi
Record 2, Spanish
Record 2, Textual support, Spanish
Record 3 - internal organization data 2001-06-04
Record 3, English
Record 3, Subject field(s)
- Endocrine System and Metabolism
Record 3, Main entry term, English
- Fanconi's syndrome
1, record 3, English, Fanconi%27s%20syndrome
correct
Record 3, Abbreviations, English
Record 3, Synonyms, English
- generalized proximal tubular dysfunctions 1, record 3, English, generalized%20proximal%20tubular%20dysfunctions
plural
Record 3, Textual support, English
Record number: 3, Textual support number: 1 CONT
In Fanconi's syndrome, the entire panoply of proximal tubule transport functions is impaired, resulting in glucosuria, generalized aminoaciduria, proximal RTA phosphaturia, and uricosuria. 1, record 3, English, - Fanconi%27s%20syndrome
Record 3, Key term(s)
- Fanconi syndrome
Record 3, French
Record 3, Domaine(s)
- Systèmes endocrinien et métabolique
Record 3, Main entry term, French
- syndrome de Fanconi
1, record 3, French, syndrome%20de%20Fanconi
correct, masculine noun
Record 3, Abbreviations, French
Record 3, Synonyms, French
- syndrome de De Toni-Debré-Fanconi 1, record 3, French, syndrome%20de%20De%20Toni%2DDebr%C3%A9%2DFanconi
correct, masculine noun
Record 3, Textual support, French
Record number: 3, Textual support number: 1 DEF
Syndrome caractérisé par une association de divers troubles de la réabsorption tubulaire rénale proximale avec glycosurie, hyperamino-acidurie, diabète phosphorique, parfois défaut de réabsorption de l'acide urique, et acidose tubulaire proximale. 1, record 3, French, - syndrome%20de%20Fanconi
Record 3, Spanish
Record 3, Textual support, Spanish
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