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MICROCEPHALY [9 records]
Record 1 - internal organization data 2023-07-20
Record 1, English
Record 1, Subject field(s)
- Viral Diseases
- Nervous System
Record 1, Main entry term, English
- HIV encephalopathy
1, record 1, English, HIV%20encephalopathy
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
Record 1, Textual support, English
Record number: 1, Textual support number: 1 CONT
A common neurological sequela of HIV infection in children is HIV encephalopathy. HIV encephalopathy is characterized by acquired microcephaly, developmental delay and/or regression, and motor deficits. 2, record 1, English, - HIV%20encephalopathy
Record number: 1, Textual support number: 1 OBS
HIV: human immunodeficiency virus. 3, record 1, English, - HIV%20encephalopathy
Record 1, French
Record 1, Domaine(s)
- Maladies virales
- Système nerveux
Record 1, Main entry term, French
- encéphalopathie liée au VIH
1, record 1, French, enc%C3%A9phalopathie%20li%C3%A9e%20au%20VIH
correct, feminine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
Record 1, Textual support, French
Record number: 1, Textual support number: 1 OBS
VIH : virus de l'immunodéficience humaine. 2, record 1, French, - enc%C3%A9phalopathie%20li%C3%A9e%20au%20VIH
Record 1, Spanish
Record 1, Textual support, Spanish
Record 2 - internal organization data 2019-11-18
Record 2, English
Record 2, Subject field(s)
- Human Diseases - Various
- Genetics
Record 2, Main entry term, English
- Cohen syndrome
1, record 2, English, Cohen%20syndrome
correct
Record 2, Abbreviations, English
- CS 2, record 2, English, CS
correct
Record 2, Synonyms, English
- Pepper syndrome 3, record 2, English, Pepper%20syndrome
- Cervenka syndrome 4, record 2, English, Cervenka%20syndrome
Record 2, Textual support, English
Record number: 2, Textual support number: 1 CONT
Cohen syndrome(CS) is an autosomal recessive disorder with variability in the clinical manifestations, characterised by mental retardation, postnatal microcephaly, facial dysmorphism, pigmentary retinopathy, myopia, and intermittent neutropenia. Mutations in the gene COH1 have been found in an ethnically diverse series of patients. 5, record 2, English, - Cohen%20syndrome
Record 2, French
Record 2, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 2, Main entry term, French
- syndrome de Cohen
1, record 2, French, syndrome%20de%20Cohen
correct, masculine noun
Record 2, Abbreviations, French
- SC 2, record 2, French, SC
correct, masculine noun
Record 2, Synonyms, French
Record 2, Textual support, French
Record number: 2, Textual support number: 1 DEF
[...] trouble génétique rare du développement[, à transmission autosomique récessive,] caractérisé par une microcéphalie, une dysmorphie faciale, une hypotonie, une déficience intellectuelle non progressive, une myopie, une dystrophie rétinienne, une neutropénie et une obésité tronculaire. 3, record 2, French, - syndrome%20de%20Cohen
Record 2, Spanish
Record 2, Textual support, Spanish
Record 3 - internal organization data 2018-10-11
Record 3, English
Record 3, Subject field(s)
- Viral Diseases
- Perinatal Period
Record 3, Main entry term, English
- congenital Zika syndrome
1, record 3, English, congenital%20Zika%20syndrome
correct
Record 3, Abbreviations, English
- CZS 2, record 3, English, CZS
correct
Record 3, Synonyms, English
- congenital Zika virus syndrome 3, record 3, English, congenital%20Zika%20virus%20syndrome
correct
- CZVS 4, record 3, English, CZVS
correct
- CZVS 4, record 3, English, CZVS
- congenital ZIKV syndrome 5, record 3, English, congenital%20ZIKV%20syndrome
correct
- CZS 5, record 3, English, CZS
correct
- CZS 5, record 3, English, CZS
Record 3, Textual support, English
Record number: 3, Textual support number: 1 CONT
In babies whose mothers were infected during pregnancy, the Zika virus can cause congenital Zika syndrome, which includes severe birth defects, such as : hearing loss; club foot and contracted limbs; incomplete brain development, including abnormally small heads(microcephaly) ;abnormal development of the eyes, including visual problems [as well as] other neurologic abnormalities, including irritability, seizures [and] spasticity. 6, record 3, English, - congenital%20Zika%20syndrome
Record 3, French
Record 3, Domaine(s)
- Maladies virales
- Périnatalité
Record 3, Main entry term, French
- syndrome associé à l'infection congénitale à virus Zika
1, record 3, French, syndrome%20associ%C3%A9%20%C3%A0%20l%27infection%20cong%C3%A9nitale%20%C3%A0%20virus%20Zika
correct, masculine noun
Record 3, Abbreviations, French
Record 3, Synonyms, French
- syndrome associé à l'infection congénitale à VZIK 2, record 3, French, syndrome%20associ%C3%A9%20%C3%A0%20l%27infection%20cong%C3%A9nitale%20%C3%A0%20VZIK
correct, masculine noun
- syndrome associé à l'infection congénitale à ZIKV 3, record 3, French, syndrome%20associ%C3%A9%20%C3%A0%20l%27infection%20cong%C3%A9nitale%20%C3%A0%20ZIKV
correct, masculine noun
Record 3, Textual support, French
Record number: 3, Textual support number: 1 CONT
[Le] syndrome associé à l'infection congénitale à virus Zika [...] englobe un spectre de déficits neurologiques et de déficits de croissance, notamment : perte auditive; pied bot et arthrogrypose; développement anormal du cerveau[;] déficience visuelle et anomalies oculaires[;] autres anomalies neurologiques [...] 4, record 3, French, - syndrome%20associ%C3%A9%20%C3%A0%20l%27infection%20cong%C3%A9nitale%20%C3%A0%20virus%20Zika
Record 3, Spanish
Record 3, Textual support, Spanish
Record 4 - internal organization data 2012-10-29
Record 4, English
Record 4, Subject field(s)
- Genetics
Record 4, Main entry term, English
- Cockayne syndrome
1, record 4, English, Cockayne%20syndrome
correct
Record 4, Abbreviations, English
Record 4, Synonyms, English
- Cockayne's syndrome 2, record 4, English, Cockayne%27s%20syndrome
correct
Record 4, Textual support, English
Record number: 4, Textual support number: 1 DEF
An autosomal recessive phenotype of symmetric dwarfism, deafness, chorioretinitis, microcephaly, mental retardation, and features of precocious aging that are evidenced by appearance and atherosclerosis. 1, record 4, English, - Cockayne%20syndrome
Record 4, French
Record 4, Domaine(s)
- Génétique
Record 4, Main entry term, French
- syndrome de Cockayne
1, record 4, French, syndrome%20de%20Cockayne
correct, masculine noun
Record 4, Abbreviations, French
Record 4, Synonyms, French
Record 4, Textual support, French
Record number: 4, Textual support number: 1 CONT
Les «réparatoses» sont une famille de maladies dans lesquelles les mécanismes de réparation de l'ADN semblent anormaux. Le syndrome de Cockayne, exceptionnel, et le Xeroderma pigmentosum en sont des exemples, caractérisés par une extrême sensibilité de la peau aux rayons UV associée, pour la première maladie, à des malformations et à un retard mental et, pour la seconde, à une grande fréquence d'apparitions de cancers de la peau. 1, record 4, French, - syndrome%20de%20Cockayne
Record 4, Spanish
Record 4, Campo(s) temático(s)
- Genética
Record 4, Main entry term, Spanish
- síndrome de Cockayne
1, record 4, Spanish, s%C3%ADndrome%20de%20Cockayne
correct, masculine noun
Record 4, Abbreviations, Spanish
Record 4, Synonyms, Spanish
Record 4, Textual support, Spanish
Record number: 4, Textual support number: 1 DEF
Enfermedad hereditaria con patrón de herencia autosómico recesivo, [...] se caracteriza por el retraso del crecimiento, alteraciones en el desarrollo del sistema nervioso, envejecimiento prematuro y fotosensibilidad 1, record 4, Spanish, - s%C3%ADndrome%20de%20Cockayne
Record 5 - internal organization data 2012-02-24
Record 5, English
Record 5, Subject field(s)
- Human Diseases
Record 5, Main entry term, English
- congenital rubella syndrome
1, record 5, English, congenital%20rubella%20syndrome
correct
Record 5, Abbreviations, English
Record 5, Synonyms, English
- rubella syndrome 1, record 5, English, rubella%20syndrome
correct
Record 5, Textual support, English
Record number: 5, Textual support number: 1 DEF
Transplacental infection of the fetus with rubella usually in the first trimester of pregnancy, as a consequence of maternal infection(which may or may not be clinically apparent), resulting in various developmental abnormalities in the newborn infant. They include cardiac and ocular lesions, deafness, microcephaly, mental retardation, and generalized growth retardation, which may be associated with acute self-limited conditions such as thrombocytopenic purpura anemia, hepatitis, encephalitis, and radiolucencies of long bones. Infected infants may shed virus to all contacts for extended periods of time. 1, record 5, English, - congenital%20rubella%20syndrome
Record 5, French
Record 5, Domaine(s)
- Maladies humaines
Record 5, Main entry term, French
- embryopathie rubéolique
1, record 5, French, embryopathie%20rub%C3%A9olique
correct, feminine noun
Record 5, Abbreviations, French
Record 5, Synonyms, French
- embryopathie rubéoleuse 2, record 5, French, embryopathie%20rub%C3%A9oleuse
correct, feminine noun
- syndrome de Gregg 2, record 5, French, syndrome%20de%20Gregg
masculine noun
Record 5, Textual support, French
Record number: 5, Textual support number: 1 DEF
Syndrome congénital dû à une rubéole contractée par la mère au cours des premiers mois de la grossesse. 2, record 5, French, - embryopathie%20rub%C3%A9olique
Record 5, Spanish
Record 5, Textual support, Spanish
Record 6 - internal organization data 2011-09-29
Record 6, English
Record 6, Subject field(s)
- Genetics
- Bones and Joints
Record 6, Main entry term, English
- moon face 1, record 6, English, moon%20face
Record 6, Abbreviations, English
Record 6, Synonyms, English
Record 6, Textual support, English
Record number: 6, Textual support number: 1 DEF
Rounded, full facies characteristic of hyperadrenocorticism. 1, record 6, English, - moon%20face
Record number: 6, Textual support number: 1 CONT
(Cat-Cry syndrome) The microcephaly is associated with brachycephaly and a "moon face". 1, record 6, English, - moon%20face
Record 6, French
Record 6, Domaine(s)
- Génétique
- Os et articulations
Record 6, Main entry term, French
- visage rond
1, record 6, French, visage%20rond
masculine noun
Record 6, Abbreviations, French
Record 6, Synonyms, French
- faciès lunaire 1, record 6, French, faci%C3%A8s%20lunaire
masculine noun
Record 6, Textual support, French
Record number: 6, Textual support number: 1 DEF
Facies arrondi caractéristique de l'hyperadrénocorticisme. 1, record 6, French, - visage%20rond
Record number: 6, Textual support number: 1 CONT
(Syndrome du cri du chat) Ce sont des enfants microcéphales avec un visage rond (moon face) et une nette rétrognathie inférieure. 1, record 6, French, - visage%20rond
Record 6, Spanish
Record 6, Textual support, Spanish
Record 7 - internal organization data 2011-03-14
Record 7, English
Record 7, Subject field(s)
- Genetics
Record 7, Main entry term, English
- carp mouth 1, record 7, English, carp%20mouth
Record 7, Abbreviations, English
Record 7, Synonyms, English
Record 7, Textual support, English
Record number: 7, Textual support number: 1 DEF
Mouth with an arched upper lip. 1, record 7, English, - carp%20mouth
Record number: 7, Textual support number: 1 CONT
(Partial deletion of the long arm of chromosome E-18) Abnormalities commonly associated with this chromosome deletion have been mental retardation, growth failure, microcephaly, hypertrophic ear parts, mid-face retraction, increased digital whorls, developmental retardation, ocular anomalies, fusiform fingers, carp mouth, hypoplastic ear canals, and genital abnormalities occurring in males. 1, record 7, English, - carp%20mouth
Record 7, French
Record 7, Domaine(s)
- Génétique
Record 7, Main entry term, French
- bouche de carpe
1, record 7, French, bouche%20de%20carpe
feminine noun
Record 7, Abbreviations, French
Record 7, Synonyms, French
Record 7, Textual support, French
Record number: 7, Textual support number: 1 DEF
Bouche dont la lèvre supérieure est arquée. 1, record 7, French, - bouche%20de%20carpe
Record number: 7, Textual support number: 1 CONT
La lèvre inférieure est inversée et dépasse la lèvre supérieure. C'est l'aspect de la «bouche de carpe». 1, record 7, French, - bouche%20de%20carpe
Record 7, Spanish
Record 7, Textual support, Spanish
Record 8 - internal organization data 1981-04-21
Record 8, English
Record 8, Subject field(s)
- Genetics
- Musculoskeletal System
Record 8, Main entry term, English
- retrognathism 1, record 8, English, retrognathism
Record 8, Abbreviations, English
Record 8, Synonyms, English
- retrognathia 1, record 8, English, retrognathia
Record 8, Textual support, English
Record number: 8, Textual support number: 1 DEF
Posterior deviation of the mandible. 1, record 8, English, - retrognathism
Record number: 8, Textual support number: 1 CONT
(Cri du chat syndrome)... we suggest that the number 5 be definitely given to the chromosome partial deletion of the short arm of which determines the clinical syndrome observed : multiple malformations including microcephaly, hypertelorism with epicanthus, normal ear lobes but low set; and micro-and retrognathism. 1, record 8, English, - retrognathism
Record 8, French
Record 8, Domaine(s)
- Génétique
- Appareil locomoteur (Médecine)
Record 8, Main entry term, French
- rétrognathie
1, record 8, French, r%C3%A9trognathie
feminine noun
Record 8, Abbreviations, French
Record 8, Synonyms, French
Record 8, Textual support, French
Record number: 8, Textual support number: 1 DEF
Position trop postérieure de l'os basal mandibulaire ou des os maxillaires supérieurs. 1, record 8, French, - r%C3%A9trognathie
Record number: 8, Textual support number: 1 CONT
(Le syndrome du cri du chat) Ce sont des enfants microcéphales avec un visage rond (moon face) et une nette rétrognathie inférieure. 1, record 8, French, - r%C3%A9trognathie
Record 8, Spanish
Record 8, Textual support, Spanish
Record 9 - internal organization data 1981-04-21
Record 9, English
Record 9, Subject field(s)
- Histology
Record 9, Main entry term, English
- cri du chat syndrome 1, record 9, English, cri%20du%20chat%20syndrome
Record 9, Abbreviations, English
Record 9, Synonyms, English
- cat cry syndrome 1, record 9, English, cat%20cry%20syndrome
- crying cat syndrome 1, record 9, English, crying%20cat%20syndrome
- deletion of short arm of chromosome 5 1, record 9, English, deletion%20of%20short%20arm%20of%20chromosome%205
- B1 deletion syndrome 1, record 9, English, B1%20deletion%20syndrome
Record 9, Textual support, English
Record number: 9, Textual support number: 1 DEF
A hereditary congenital syndrome characterized by hypertelorism, microcephaly, severe mental deficiency, and a plaintive catlike cry, due to deletion of the short arm of a chromosome(4 or 5) of the B group. 1, record 9, English, - cri%20du%20chat%20syndrome
Record number: 9, Textual support number: 1 CONT
Deletions of the short arms of both the early and late replicating pair have been reported, and evidence suggests that the cri du chat syndrome ... results from a substantial deficiency of genetic material in the short arms of the shorter early-replicating chromosome pair (No 5). 1, record 9, English, - cri%20du%20chat%20syndrome
Record 9, French
Record 9, Domaine(s)
- Histologie
Record 9, Main entry term, French
- syndrome du cri du chat
1, record 9, French, syndrome%20du%20cri%20du%20chat
masculine noun
Record 9, Abbreviations, French
Record 9, Synonyms, French
- syndrome de Lejeune 1, record 9, French, syndrome%20de%20Lejeune
see observation, masculine noun
Record 9, Textual support, French
Record number: 9, Textual support number: 1 DEF
Syndrome décrit chez le nourrisson [...] et caractérisé par : 1) des anomalies morphologiques comprenant une microcéphalie, un hypertélorisme avec épicanthus, une implantation basse des oreille, un micro- et un rétrognathisme; 2) une arriération mentale profonde; 3) une consonance particulière du cri comparable au cri du chat; 4) des anomalies dermatoglyphiques à savoir un triradius palmaire en position t' et un équivalent du pli palmaire transverse unique; 5) une aberration chromosomique caractérisée par une amputation de la moitié environ des bras courts d'un chromosome 4-5. 1, record 9, French, - syndrome%20du%20cri%20du%20chat
Record number: 9, Textual support number: 1 CONT
Ce symptôme est tellement typique pour le tableau pathologique, que Lejeune et Coll. ont préconisé la dénomination assez triviale de «syndrome du cri du chat». 1, record 9, French, - syndrome%20du%20cri%20du%20chat
Record number: 9, Textual support number: 1 OBS
«syndrome de Lejeune» : Syndrome (plurimalformatif) de Lejeune 1, record 9, French, - syndrome%20du%20cri%20du%20chat
Record 9, Key term(s)
- syndrome plurimalformatif de Lejeune
Record 9, Spanish
Record 9, Textual support, Spanish
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