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HEREDITARY DEFECT [5 records]

Record 1 2010-09-15

English

Subject field(s)
  • The Pancreas
  • Endocrine System and Metabolism
DEF

[A form of diabetes insipidus that] is characterized by a decrease in the ability to concentrate urine due to a resistance to ADH [antidiuretic hormone] action in the kidney.

OBS

The rare hereditary form of nephrogenic DI is transmitted as an X-linked genetic defect of the V2 receptor gene. A rare autosomal variant is caused by mutation in the aqua porin gene AQP2, a water-channel exclusively expressed in the collecting ducts of the kidney.

French

Domaine(s)
  • Pancréas
  • Systèmes endocrinien et métabolique
DEF

[Diabète insipide qui] se caractérise par une diminution de la capacité de concentration urinaire résultant d'une résistance rénale à l'action de l'hormone antidiurétique.

Spanish

Save record 1

Record 2 2008-03-12

English

Subject field(s)
  • Horse Racing and Equestrian Sports
  • Animal Anatomy

French

Domaine(s)
  • Courses hippiques et sports équestres
  • Anatomie animale

Spanish

Save record 2

Record 3 2007-12-22

English

Subject field(s)
  • Bones and Joints
DEF

A hereditary disorder characterized by pronounced sclerosis of all the bones. It is primarily due to a defect in absorption of primary spongiosa in the process of enchondral bone formation. Bandlike areas of compact bone form at the epiphyseal lines of the long bones which are flask shaped and broadened at both ends. Multiple fractures often occur as a result of increased bone fragility.

French

Domaine(s)
  • Os et articulations
DEF

Maladie osseuse héréditaire et familiale, caractérisée principalement par une ostéosclérose généralisée provenant, semble-t-il, d'un défaut de la résorption ostéoclastique. Elle est caractérisée cliniquement par une fragilité anormale des os, entraînant des fractures à répétition, et radiologiquement par une hyperopacité diffuse du squelette, avec hypertrophie en masse et striation transversale des métaphyses.

Spanish

Campo(s) temático(s)
  • Huesos y articulaciones
DEF

Enfermedad congénita presente desde el nacimiento en la que los huesos son superdensos [que resulta] de un desequilibrio entre la formación de hueso y la destrucción de hueso, procesos ambos necesarios para el desarrollo y mantenimiento de un hueso normal.

CONT

En la osteopetrosis, las células que destruyen el hueso, los osteoclastos, generalmente se encuentran en menor número o son menos eficaces en la destrucción de hueso.

Save record 3

Record 4 2001-03-01

English

Subject field(s)
  • Blood
CONT

Hypoprothrombinemia is an uncommon hereditary coagulation defect characterized by low levels of biologically active prothrombin.

OBS

Blood Coagul Fibrinolysis 1997 Sep;8(6):337-43 (ISSN: 0957-5235) Tamary H; Surrey S; Augustine J; Shalmon L; Schwartz E; Rappaport EF, Department of Pediatric Hematology-Oncology, Schneider Children’s Medical Center of Israel, Petah Tiqva.

French

Domaine(s)
  • Sang
DEF

Réduction du taux de prothrombine dans le sang.

CONT

Tendance hémorragique par hypoprothrombinémie par vitamine K1.

OBS

EX : M. Roussey, Quelques exemples d'intoxications fréquentes chez l'enfant, Institut Mère-Enfant, annexe pédiatrique, Hôpital sud, Rennes, mis à jour le 29 février 2000.

Spanish

Save record 4

Record 5 1996-08-28

English

Subject field(s)
  • Dentistry
DEF

A hereditary defect of enamel matrix formation, with deficiency of enamel rods and cementing substance; enamel is hard but thin, teeth may be conical or cylindrical shape, with lack of contact between teeth, occlusal surfaces become worn, and yellow staining appears where the dentin is exposed; both deciduous and permanent teeth are affected. A type of amelogenesis imperfecta.

French

Domaine(s)
  • Dentisterie

Spanish

Save record 5

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