TERMIUM Plus®
From: Translation Bureau
On social media
Consult the Government of Canada’s terminology data bank.
HEREDITARY DEFECT [5 records]
Record 1 - internal organization data 2010-09-15
Record 1, English
Record 1, Subject field(s)
- The Pancreas
- Endocrine System and Metabolism
Record 1, Main entry term, English
- nephrogenic diabetes insipidus
1, record 1, English, nephrogenic%20diabetes%20insipidus
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
- nephrogenic DI 1, record 1, English, nephrogenic%20DI
correct
Record 1, Textual support, English
Record number: 1, Textual support number: 1 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. 1, record 1, English, - nephrogenic%20diabetes%20insipidus
Record number: 1, Textual support number: 1 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. 1, record 1, English, - nephrogenic%20diabetes%20insipidus
Record 1, French
Record 1, Domaine(s)
- Pancréas
- Systèmes endocrinien et métabolique
Record 1, Main entry term, French
- diabète insipide néphrogénique
1, record 1, French, diab%C3%A8te%20insipide%20n%C3%A9phrog%C3%A9nique
correct, masculine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
Record 1, Textual support, French
Record number: 1, Textual support number: 1 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. 1, record 1, French, - diab%C3%A8te%20insipide%20n%C3%A9phrog%C3%A9nique
Record 1, Spanish
Record 1, Textual support, Spanish
Record 2 - internal organization data 2008-03-12
Record 2, English
Record 2, Subject field(s)
- Horse Racing and Equestrian Sports
- Animal Anatomy
Record 2, Main entry term, English
- inborn defect
1, record 2, English, inborn%20defect
correct
Record 2, Abbreviations, English
Record 2, Synonyms, English
- hereditary defect 1, record 2, English, hereditary%20defect
correct
Record 2, French
Record 2, Domaine(s)
- Courses hippiques et sports équestres
- Anatomie animale
Record 2, Main entry term, French
- tare héréditaire
1, record 2, French, tare%20h%C3%A9r%C3%A9ditaire
feminine noun
Record 2, Abbreviations, French
Record 2, Synonyms, French
Record 2, Textual support, French
Record 2, Spanish
Record 2, Textual support, Spanish
Record 3 - internal organization data 2007-12-22
Record 3, English
Record 3, Subject field(s)
- Bones and Joints
Record 3, Main entry term, English
- osteopetrosis
1, record 3, English, osteopetrosis
correct
Record 3, Abbreviations, English
Record 3, Synonyms, English
- Albers-Schönberg disease 2, record 3, English, Albers%2DSch%C3%B6nberg%20disease
correct
- marble bones 2, record 3, English, marble%20bones
correct
- ivory bones 3, record 3, English, ivory%20bones
correct
Record 3, Textual support, English
Record number: 3, Textual support number: 1 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. 4, record 3, English, - osteopetrosis
Record 3, French
Record 3, Domaine(s)
- Os et articulations
Record 3, Main entry term, French
- ostéopétrose
1, record 3, French, ost%C3%A9op%C3%A9trose
correct, feminine noun
Record 3, Abbreviations, French
Record 3, Synonyms, French
- maladie d'Albers-Schönberg 1, record 3, French, maladie%20d%27Albers%2DSch%C3%B6nberg
correct, feminine noun
- maladie des os de marbre 1, record 3, French, maladie%20des%20os%20de%20marbre
correct, feminine noun
- ostéopétrose génotypique 1, record 3, French, ost%C3%A9op%C3%A9trose%20g%C3%A9notypique
correct, feminine noun
Record 3, Textual support, French
Record number: 3, Textual support number: 1 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. 2, record 3, French, - ost%C3%A9op%C3%A9trose
Record 3, Spanish
Record 3, Campo(s) temático(s)
- Huesos y articulaciones
Record 3, Main entry term, Spanish
- osteopetrosis
1, record 3, Spanish, osteopetrosis
correct, feminine noun
Record 3, Abbreviations, Spanish
Record 3, Synonyms, Spanish
Record 3, Textual support, Spanish
Record number: 3, Textual support number: 1 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. 1, record 3, Spanish, - osteopetrosis
Record number: 3, Textual support number: 1 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. 1, record 3, Spanish, - osteopetrosis
Record 4 - internal organization data 2001-03-01
Record 4, English
Record 4, Subject field(s)
- Blood
Record 4, Main entry term, English
- hypoprothrombinemia
1, record 4, English, hypoprothrombinemia
correct
Record 4, Abbreviations, English
Record 4, Synonyms, English
- hypoprothrombinaemia 2, record 4, English, hypoprothrombinaemia
correct, Great Britain
- prothrombinopenia 2, record 4, English, prothrombinopenia
Record 4, Textual support, English
Record number: 4, Textual support number: 1 CONT
Hypoprothrombinemia is an uncommon hereditary coagulation defect characterized by low levels of biologically active prothrombin. 3, record 4, English, - hypoprothrombinemia
Record number: 4, Textual support number: 1 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. 4, record 4, English, - hypoprothrombinemia
Record 4, French
Record 4, Domaine(s)
- Sang
Record 4, Main entry term, French
- hypoprothrombinémie
1, record 4, French, hypoprothrombin%C3%A9mie
correct, feminine noun
Record 4, Abbreviations, French
Record 4, Synonyms, French
Record 4, Textual support, French
Record number: 4, Textual support number: 1 DEF
Réduction du taux de prothrombine dans le sang. 2, record 4, French, - hypoprothrombin%C3%A9mie
Record number: 4, Textual support number: 1 CONT
Tendance hémorragique par hypoprothrombinémie par vitamine K1. 1, record 4, French, - hypoprothrombin%C3%A9mie
Record number: 4, Textual support number: 1 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. 2, record 4, French, - hypoprothrombin%C3%A9mie
Record 4, Spanish
Record 4, Textual support, Spanish
Record 5 - internal organization data 1996-08-28
Record 5, English
Record 5, Subject field(s)
- Dentistry
Record 5, Main entry term, English
- enamel hypoplasia
1, record 5, English, enamel%20hypoplasia
correct
Record 5, Abbreviations, English
Record 5, Synonyms, English
Record 5, Textual support, English
Record number: 5, Textual support number: 1 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. 2, record 5, English, - enamel%20hypoplasia
Record 5, French
Record 5, Domaine(s)
- Dentisterie
Record 5, Main entry term, French
- hypoplasie de l'émail
1, record 5, French, hypoplasie%20de%20l%27%C3%A9mail
correct, feminine noun
Record 5, Abbreviations, French
Record 5, Synonyms, French
Record 5, Textual support, French
Record 5, Spanish
Record 5, Textual support, Spanish
Copyright notice for the TERMIUM Plus® data bank
© Public Services and Procurement Canada, 2026
TERMIUM Plus®, the Government of Canada's terminology and linguistic data bank
A product of the Translation Bureau
Features
GCtranslate (available on the Government of Canada network only)
Use this artificial intelligence prototype to translate Government of Canada content up to and including Protected B. Available to employees of selected departments and agencies only.
Writing tools
The Language Portal’s writing tools have a new look! Easy to consult, they give you access to a wealth of information that will help you write better in English and French.
Glossaries and vocabularies
Access Translation Bureau glossaries and vocabularies.
- Date Modified:


