TERMIUM Plus^®

Record 1,  Textual support,  English

Record number: 1, Textual support number: 1 CONT

Galactosemia is a rare hereditary disease that can lead to cirrhosis in infants, and early, devastating illness if not diagnosed quickly. This disease is caused by elevated levels of galactose(a sugar in milk) in the blood resulting from a deficiency of the liver enzyme required for its metabolism(breakdown).  2, record 1, English, - galactosemia

Record number: 1, Textual support number: 1 OBS

The term "galactosemia" refers to disorders of galactose metabolism that include classic galactosemia, clinical variant galactosemia, and biochemical variant galactosemia ...  3, record 1, English, - galactosemia

Record 1,  Textual support,  French

Record number: 1, Textual support number: 1 DEF

Maladie métabolique héréditaire affectant le métabolisme du galactose, caractérisée par une augmentation de la concentration du galactose et de ses métabolites toxiques dans le sang et les organes.  2, record 1, French, - galactos%C3%A9mie

Record 1,  Textual support,  Spanish

Record 2,  Textual support,  English

Record number: 2, Textual support number: 1 DEF

[A disease], often hereditary,... characterized by degeneration of motor neurons and progressive weakness and atrophy of muscles.  3, record 2, English, - motor%20neuron%20disease

Record number: 2, Textual support number: 1 CONT

The motor neuron diseases (MNDs) are a group of progressive neurological disorders that destroy motor neurons, the cells that control essential voluntary muscle activity such as speaking, walking, breathing, and swallowing.  4, record 2, English, - motor%20neuron%20disease

Record number: 2, Textual support number: 1 OBS

G12.2: code used in the International Statistical Classification of Diseases and Related Health Problems.  5, record 2, English, - motor%20neuron%20disease

Record 2,  Textual support,  French

Record number: 2, Textual support number: 1 CONT

Les maladies des motoneurones sont caractérisées par une détérioration progressive des cellules nerveuses qui initient le mouvement musculaire. Il en résulte que les muscles stimulés par ces nerfs se détériorent, s’affaiblissent et ne peuvent plus fonctionner normalement.  5, record 2, French, - maladie%20des%20motoneurones

Record number: 2, Textual support number: 1 OBS

G12.2 : code de la Classification statistique internationale des maladies et des problèmes de santé connexes.  6, record 2, French, - maladie%20des%20motoneurones

Record 2,  Textual support,  Spanish

Record number: 2, Textual support number: 1 CONT

Las enfermedades de las neuronas motoras representan un grupo heterogéneo de trastornos neurodegenerativos letales cuyas causas aún se desconocen en gran medida.  2, record 2, Spanish, - enfermedad%20de%20las%20neuronas%20motoras

Record number: 2, Textual support number: 1 OBS

G12.2: código de la Clasificación Estadística Internacional de Enfermedades y Problemas Relacionados con la Salud.  3, record 2, Spanish, - enfermedad%20de%20las%20neuronas%20motoras

Record 3,  Textual support,  English

Record number: 3, Textual support number: 1 DEF

A rare hereditary disease of the basal ganglia and cerebral cortex resulting in choreiform(dancelike) movements, intellectual deterioration, and psychosis.  4, record 3, English, - Huntington%20disease

Record number: 3, Textual support number: 1 CONT

Huntington’s disease results from a flaw in a single gene, one damaged link in the long, twisted DNA molecule.  5, record 3, English, - Huntington%20disease

Record number: 3, Textual support number: 2 CONT

Huntington’s disease is a late-onset disorder, one that can lie dormant for many years before striking.  6, record 3, English, - Huntington%20disease

Record number: 3, Textual support number: 1 OBS

G10: code used in the International Statistical Classification of Diseases and Related Health Problems.  7, record 3, English, - Huntington%20disease

Record 3,  Textual support,  French

Record number: 3, Textual support number: 1 DEF

Affection neurodégénérative héréditaire transmise sur le mode autosomique dominant [...] provoquée par un gène défectueux situé sur le chromosome 4.  3, record 3, French, - chor%C3%A9e%20de%20Huntington

Record number: 3, Textual support number: 1 CONT

Les chorées chroniques. La chorée de Huntington est la plus fréquente. Affection familiale à transmission autosomique dominante, elle débute vers la quarantaine et se caractérise par l'association de mouvements anormaux avec hypotonie et un déficit intellectuel dont l'intensité est variable. À l'examen anatomique, il existe une atrophie macroscopique du cortex cérébral, qui prédomine sur le lobe frontal [...]  4, record 3, French, - chor%C3%A9e%20de%20Huntington

Record number: 3, Textual support number: 1 OBS

G10 : code de la Classification statistique internationale des maladies et des problèmes de santé connexes.  5, record 3, French, - chor%C3%A9e%20de%20Huntington

Record 3,  Textual support,  Spanish

Record number: 3, Textual support number: 1 DEF

Enfermedad degenerativa del sistema nervioso central transmitida por herencia autosómica dominante, debida a mutaciones en el gen IT15 del cromosoma 4 que se traducen en cadenas de poliglutaminas anormales.  1, record 3, Spanish, - corea%20de%20Huntington

Record 4,  Textual support,  English

Record number: 4, Textual support number: 1 DEF

A person who does not have cancer, but has precancerous cells or a genetic mutation known to increase the risk of developing it ...  2, record 4, English, - previvor

Record number: 4, Textual support number: 1 CONT

... previvors are individuals who [have] a predisposition to cancer but who haven’t had the disease. This group includes people who carry a hereditary mutation, a family history of cancer, or some other predisposing factor. [Previvors have] unique needs and concerns separate from the general population, but different from those already diagnosed with cancer.  3, record 4, English, - previvor

Record number: 4, Textual support number: 1 OBS

previvor: This term is a blend of the prefix "pre," which means "prior to," and the word "survivor."  4, record 4, English, - previvor

Record 4,  Textual support,  French

Record number: 4, Textual support number: 1 OBS

prévivant; prévivante : terme formé du préfixe «pré», qui indique l'antériorité, et le mot «survivant».  2, record 4, French, - pr%C3%A9vivant

Record 4,  Textual support,  Spanish

Record number: 4, Textual support number: 1 CONT

Se llama "previvientes" a aquellas personas que tienen predisposición al cáncer con una clara conciencia del riesgo que corren y que hacen todo lo posible por reducirlo.  1, record 4, Spanish, - previviente

Record 5,  Textual support,  English

Record number: 5, Textual support number: 1 DEF

Redness of the palms, occurring in certain disease states, including cirrhosis of the liver, tuberculosis, and nutritional deficiencies; during pregnancy; and rarely as a hereditary condition.  1, record 5, English, - palmar%20erythema

Record 5,  Textual support,  French

Record number: 5, Textual support number: 1 DEF

Érythème de la paume des mains et de la pulpe des doigts. Il existe une forme congénitale : érythrose palmo-plantaire congénitale de Lane. D'autres formes sont acquises : érythème vermillon de Weissenbach et Di Mattéo; érythème des tuberculeux, des éthyliques, des hépatiques; érythème de l'amylose généralisée primitive; érythème du lupus érythémateux disséminé.  2, record 5, French, - %C3%A9ryth%C3%A8me%20palmaire

Record number: 5, Textual support number: 1 OBS

érythème palmaire : terme privilégié par le Comité de sémiologie médicale.  3, record 5, French, - %C3%A9ryth%C3%A8me%20palmaire

Record 5,  Textual support,  Spanish

Record 6,  Textual support,  English

Record number: 6, Textual support number: 1 DEF

A disease transmitted by genetic transmission, from a parent or ancestor.  2, record 6, English, - inherited%20disease

Record 6,  Textual support,  French

Record number: 6, Textual support number: 1 DEF

Maladie transmise aux descendants par leurs ascendants (parents, ancêtres), par l'intermédiaire des gènes.  2, record 6, French, - maladie%20h%C3%A9r%C3%A9ditaire

Record number: 6, Textual support number: 1 OBS

Lorsque les maladies génétiques touchent les cellules germinales, elles peuvent donc être transmises des ascendants aux descendants et constituent ainsi des maladies héréditaires.  3, record 6, French, - maladie%20h%C3%A9r%C3%A9ditaire

Record number: 6, Textual support number: 2 OBS

Toute maladie héréditaire est par définition congénitale, mais l'inverse n'est pas vrai.  2, record 6, French, - maladie%20h%C3%A9r%C3%A9ditaire

Record 6,  Textual support,  Spanish

Record 7,  Textual support,  English

Record number: 7, Textual support number: 1 DEF

A vertebra characterized by the abrupt indentation of the vertebral endplates. It is a relatively specific roentgenographic sign of anemia but has been described in other conditions, including thalassemia, Gaucher's disease, congenital hereditary spherocytosis, and osteoporosis.  2, record 7, English, - H%20vertebra

Record 7,  Textual support,  French

Record number: 7, Textual support number: 1 CONT

La vertèbre en H par tassement médian à bords abrupts des plateaux vertébraux s'observe non seulement dans la drépanocytose, mais aussi dans la maladie de Gaucher.  1, record 7, French, - vert%C3%A8bre%20en%20H

Record 7,  Textual support,  Spanish

Record 8,  Textual support,  English

Record number: 8, Textual support number: 1 CONT

Many hunters are familiar with the hoof sloughing associated with the chronic form of hemorrhagic disease because the condition frequently persists into the winter. An interruption of growth, resulting from high fever, often causes the hooves to appear broken or ringed. In extreme cases the tips of the hooves will actually slough off.  1, record 8, English, - hoof%20sloughing

Record number: 8, Textual support number: 1 OBS

Sloughed hoof, the loss of the entire horny claw is a rare condition in cattle. It may be caused by direct trauma(trapping the foot; infections, such as foot and mouth disease [FMD] ;generalized intoxication, such as ergot poisoning; systemic vasculitis, such as that following infection with Salmonella dublin; and hereditary defective keratogenesis imperfecta. Traumatic sloughing is a primary detachment, whereas sloughed hoof following epidermal disruption or infection is a secondary detachment.  2, record 8, English, - hoof%20sloughing

Record 8,  Textual support,  French

Record number: 8, Textual support number: 1 CONT

La fourbure aiguë est une maladie très grave qui touche les pieds des chevaux. [Elle] peut [...] aboutir à la chute ou au décollement des sabots.  1, record 8, French, - chute%20du%20sabot

Record 8,  Textual support,  Spanish

Record 9,  Textual support,  English

Record number: 9, Textual support number: 1 DEF

A rare, slowly progressive hereditary disease transmitted as an autosomal dominant trait, characterized by myotonia followed by atrophy of the muscles(especially those of the face and neck), cataracts, hypogonadism, frontal balding, and cardiac abnormalities.  1, record 9, English, - Steinert%26rsquo%3Bs%20disease

Record 9,  Textual support,  French

Record number: 9, Textual support number: 1 DEF

Affection héréditaire à transmission autosomique dominante, caractérisée par une atrophie musculaire extrême atteignant la face et l'extrémité distale des membres, associée à une myotonie modérée. Les troubles dystrophiques ne sont pas seulement limités au tissu musculaire, mais peuvent aussi atteindre les cheveux (alopécie), le cristallin (cataracte) et les gonades.  1, record 9, French, - maladie%20de%20Steinert

Record number: 9, Textual support number: 1 CONT

Quant aux complications testiculaires de la myopathie myotonique (maladie de Steinert), elles sont tardives et précédées d'une période de fertilité.  1, record 9, French, - maladie%20de%20Steinert

Record 9,  Textual support,  Spanish

Record 10,  Textual support,  English

Record number: 10, Textual support number: 1 DEF

An X-linked hereditary bleeding disease caused by a deficiency of factor 1X.  3, record 10, English, - hemophilia%20B

Record 10,  Textual support,  French

Record number: 10, Textual support number: 1 DEF

Affection hémorragique liée au sexe et due à un déficit congénital en facteur antihémophilique B (facteur 1X).  4, record 10, French, - h%C3%A9mophilie%20B

Record number: 10, Textual support number: 1 CONT

La maladie de Christmas, du nom de Steven Christmas, un Canadien, qui, en 1952, a été le premier homme à recevoir un diagnostic de ce type distinct d'hémophilie et hémophilie par déficit en facteur IX, parce que c'est le facteur 9 (écrit en chiffres romains, IX), qui est la protéine sanguine déficitaire et dont l'absence ralentit le processus normal de coagulation.  3, record 10, French, - h%C3%A9mophilie%20B

Record 10,  Textual support,  Spanish

Record 11,  Textual support,  English

Record number: 11, Textual support number: 1 CONT

Amyloidosis is not one clinical entity but a group of diverse structurally driven protein deposition diseases. They are similar in that protein deposition occurs extracellularly and these deposits stain eosinophilic using standard tissue histologic stains, bind Congo red dye, and emit an apple-green birefringence using polarized light microscopy; exhibit metachromasia with crystal violet; and have an array of 75-to 100-Å nonbranching fibrils by electron microscopy and a twisted b-pleated sheet antiparallel configuration by x-ray crystallography. They differ, however, in the biochemical nature of the proteinaceous deposits, the "etiology" of the associated diseases(neoplastic, inflammatory, degenerative, hereditary), the tropism of protein deposition, and the spectrum of disease manifestations.  1, record 11, English, - amyloidosis

Record 11,  Textual support,  French

Record number: 11, Textual support number: 1 DEF

Affection caractérisée par le dépôt, dans de nombreux organes, d'un matériel d'allure protéique, la substance amyloïde définie par certaines affinités tinctoriales et une ultrastructure fibrillaire et tendant à envahir et détruire certains organes, notamment les reins.  2, record 11, French, - amylose

Record 11,  Textual support,  Spanish

Record number: 11, Textual support number: 1 DEF

Enfermedad caracterizada por la aparición de formaciones de pequeños fragmentos de una proteína insoluble en distintas partes del cuerpo, tales como lengua, corazón, tracto gastrointestinal, nervios, músculos y especialmente en los dedos de la mano.  1, record 11, Spanish, - amiloidosis

Record 12,  Textual support,  English

Record number: 12, Textual support number: 1 CONT

Genu valgum is the Latin-derived term used to describe knock-knee deformity. While many otherwise healthy children have knock-knee deformity as a passing trait, some individuals retain or develop this deformity due to hereditary or genetic disorders or metabolic bone disease. The typical gait pattern is circumduction, requiring that the individual swing each leg outward while walking in order to take a step without striking the planted limb with the moving limb. Not only are the mechanics of gait compromised but also, with significant angular deformity, anterior and medial knee pain are common.  2, record 12, English, - genu%20valgum

Record number: 12, Textual support number: 1 OBS

The term "genu valgum" was recommended by the Medical Signs and Symptoms Committee.  4, record 12, English, - genu%20valgum

Record 12,  Textual support,  French

Record number: 12, Textual support number: 1 DEF

Déformation du membre inférieur se caractérisant par une obliquité (inclinaison) de la jambe formant avec la cuisse un angle ouvert en dehors.  1, record 12, French, - genu%20valgum

Record 12,  Textual support,  Spanish

Record 13,  Textual support,  English

Record number: 13, Textual support number: 1 DEF

A tendency to developing some forms of cancer that may be due to particular conditions of living(high-fat diet), congenital anomaly or malformation(cryptorchidism) or hereditary disease(familial intestinal polyposis).  1, record 13, English, - predisposition

Record 13,  Textual support,  French

Record number: 13, Textual support number: 1 DEF

Tendance à développer certaines formes de cancer pouvant être due à des conditions de vie particulières (alimentation trop riche en lipides), à une anomalie ou à une malformation congénitale (cryptorchidie) ainsi qu'à des maladies héréditaires (polypose rectocolique diffuse).  1, record 13, French, - pr%C3%A9disposition

Record 13,  Textual support,  Spanish

Record 14,  Textual support,  English

Record number: 14, Textual support number: 1 CONT

Many investigators believe that loss of hearing is not the most serious consequence of excess noise.  2, record 14, English, - investigator

Record number: 14, Textual support number: 2 CONT

Working closely with the Hereditary Disease Foundation,... she recruited the best scientific investigators she could find to work in the field.  3, record 14, English, - investigator

Record number: 14, Textual support number: 1 OBS

investigator: term in use at the Canadian Institutes of Health Research (CIHR).  4, record 14, English, - investigator

Record 14,  Textual support,  French

Record number: 14, Textual support number: 1 CONT

36 % des personnes interrogées [...] étaient dérangées par le bruit. [...] Les chercheurs comparèrent les résultats de 1961 à ceux d'une enquête menée à Londres en 1948.  3, record 14, French, - chercheur

Record number: 14, Textual support number: 1 OBS

chercheur; chercheuse : termes en usage aux Instituts de recherche en santé du Canada (IRSC).  4, record 14, French, - chercheur

Record 14,  Textual support,  Spanish

Record 15,  Textual support,  English

Record number: 15, Textual support number: 1 CONT

[Hereditary hemochromatosis(HH) ] is an autosomal recessive disease meaning a person has to get a copy of the gene(double mutation) from each parent. At present there are two different gene mutations(C282Y and H63D) that are associated with the disease... Usually the parents are carriers, meaning they do not have the disease. It is estimated that about 1 out of 200 people in the US has a double mutation and that about 3-5 per 1000 people have HH.  2, record 15, English, - amphimutation

Record 15,  Textual support,  French

Record 15,  Textual support,  Spanish

Record number: 15, Textual support number: 1 CONT

No se ha encontrado mutación doble, es decir la C282Y y la H63D, en el mismo cromosoma. Hay formas de hemocromatosis no dependientes de las mutaciones antes señaladas como es el caso de la hemocromatosis juvenil, y la de los africano-americanos.  3, record 15, Spanish, - mutaci%C3%B3n%20doble

Record 16,  Textual support,  English

Record number: 16, Textual support number: 1 DEF

hereditary disease in man arising from a deficiency of enzymes located in lysosomes.  2, record 16, English, - lysosomal%20disease

Record 16,  Textual support,  French

Record number: 16, Textual support number: 1 OBS

Maladie qui affecte la plupart des tissus, mais plus particulièrement le tissu nerveux et le tissu musculaire.  2, record 16, French, - maladie%20lysosomiale%20cong%C3%A9nitale

Record 16,  Textual support,  Spanish

Record 17,  Textual support,  English

Record number: 17, Textual support number: 1 DEF

A rare hereditary disease involving the autonomic nervous system and characterized by mental retardation, motor incoordination, vomiting, frequent infections, and convulsions. It is seen almost exclusively in Ashkenazi Jews.  1, record 17, English, - dysautonomia

Record 17,  Textual support,  French

Record number: 17, Textual support number: 1 DEF

Ensemble des troubles liés aux perturbations du système nerveux végétatif.  1, record 17, French, - dysautonomie

Record 17,  Textual support,  Spanish

Record 18,  Textual support,  English

Record number: 18, Textual support number: 1 DEF

An hereditary disease characterized by juxtaglomerular cell hyperplasia, hyperreninemia without hypertension, hyperaldosternonism, hypokalemic alkalosis, and sometimes by short stature and mental retardation.  1, record 18, English, - Bartter%20syndrome

Record 18,  Textual support,  French

Record number: 18, Textual support number: 1 DEF

Hypokaliémie chronique avec kaliurie excessive, élévation de la rénine circulante, sécrétion excessive d'aldostérone et hypertrophie de l'appareil juxtaglomérulaire.  1, record 18, French, - syndrome%20de%20Bartter

Record 18,  Textual support,  Spanish

Record 19,  Textual support,  English

Record number: 19, Textual support number: 1 CONT

Pycnodysostosis, a hereditary form of dwarfism, is also a rare disease, occurring in fewer than 1 out of 100, 000 people... [Chromosome 1] appears to play a pivotal role in the function of the osteoclasts, cells that continuously dissolve bone and regenerate it; when the gene is mutated, bones become abnormally thick, fragile, and liable to fracture. Other symptoms of the disease include an open fontanel, or soft, unfused spot on the skull, short fingers and toes, and a receding chin.  1, record 19, English, - pycnodysostosis

Record 19,  Textual support,  French

Record number: 19, Textual support number: 1 DEF

[...] maladie osseuse qui entraîne une déformation du squelette.  1, record 19, French, - pycnodysostose

Record number: 19, Textual support number: 1 OBS

[...] la maladie serait liée au gène de la cathepsine K.  1, record 19, French, - pycnodysostose

Record 19,  Textual support,  Spanish

Record 20,  Textual support,  English

Record number: 20, Textual support number: 1 CONT

The foundation for our current studies has been a detailed investigation of the molecular genetics of retinoblastoma, a paradigm for familial cancer predisposition and a classic monogenic hereditary disease.  1, record 20, English, - monogenic%20hereditary%20disease

Record number: 20, Textual support number: 1 OBS

monogenic character: a character determined by a single gene.  2, record 20, English, - monogenic%20hereditary%20disease

Record 20,  Textual support,  French

Record number: 20, Textual support number: 1 CONT

Surtout, on entrevoit de claires indications à la thérapie génique. À côté des maladies héréditaires monogéniques, où l'on compte quelques succès (déficit ADA, mucopolysaccharidoses) et des échecs temporaires (muscovidose), l'intérêt de la thérapie génique s'est vite déplacée vers les maladies acquises polygéniques comme le cancer.  1, record 20, French, - maladie%20h%C3%A9r%C3%A9ditaire%20monog%C3%A9nique

Record number: 20, Textual support number: 1 OBS

Génétique moléculaire.  2, record 20, French, - maladie%20h%C3%A9r%C3%A9ditaire%20monog%C3%A9nique

Record 20,  Textual support,  Spanish

Record 21,  Textual support,  English

Record number: 21, Textual support number: 1 CONT

a hereditary disease called pébrine is caused by a Protozoan parasite.... Infection of the silkworm causes black spots on the skin, and development of the insect is slowed.  1, record 21, English, - p%C3%A9brine

Record 21,  Textual support,  French

Record number: 21, Textual support number: 1 DEF

Maladie du ver à soie causée par un sporozoaire (Nosema bombycis). Les symptômes de la pébrine sont l'atrophie, l'irrégularité dans la taille des vers, souvent des taches noires sur l'épiderme (...). Maladie contagieuse et héréditaire (...)  1, record 21, French, - p%C3%A9brine

Record 21,  Textual support,  Spanish

Record 22,  Textual support,  English

Record number: 22, Textual support number: 1 OBS

A disease, usually congenital and hereditary, characterized by tonic spasm and rigidity of certain muscles when an attempt is made to move them after a period of rest or when mechanically stimulated. The stiffness disappears as the muscles are used.  1, record 22, English, - myotonia%20congenita

Record 22,  Textual support,  French

Record number: 22, Textual support number: 1 OBS

Affection familiale et héréditaire (décrite en 1876 par Thomsen sur lui-même, ses ascendants et ses descendants), débutant dans l'enfance ou l'adolescence, faisant partie du groupe des myopathies, et dont l'expression clinique réside dans un trouble particulier de la décontraction des muscles volontaires. Au début du mouvement, le muscle se met en état de raideur spasmodique, état qui s'oppose au relâchement, mais cède bientôt et disparaît quand le même mouvement se reproduit.  1, record 22, French, - maladie%20de%20Thomsen

Record 22,  Textual support,  Spanish