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Translation of "anomaly " (English → French) :
TERMINOLOGY
see also In-Context Translations below This syndrome is characterized by the association of global developmental delay, osteopenia and skin anomalies. To date, only three cases (two brothers and one unrelated girl) have been reported. Central nervous system anomalies manifest as poor lang
syndrome de retard de développement-ostéopénie-anomalies ectodermiques
SNOMEDCT-BE (two brothers and one unrelated girl) have been reported. Central nervous system anomalies manifest as poor lang / 717813005
SNOMEDCT-BE (disorder) / 717813005
An extremely rare inborn error of sterol biosynthesis with manifestations of facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease. Only 4 cases have been reported in
lathostérolose
SNOMEDCT-BE (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease. Only 4 cases have been reported in / 719257008
SNOMEDCT-BE (disorder) / 719257008
A polymalformation syndrome with main features of agenesis of corpus callosum, distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit. Craniofacial anomalies include macrocephaly with protruding forehead and occiput and hype
syndrome acro-calleux
SNOMEDCT-BE (disorder) / 715951007
SNOMEDCT-BE (disorder) / 715951007
A chromosomal anomaly with characteristics of severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.
syndrome de microdélétion 1q41q42
SNOMEDCT-BE (disorder) / 716515000
SNOMEDCT-BE (disorder) / 716515000
A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.
syndrome génito-palato-cardiaque
SNOMEDCT-BE (disorder) / 773749003
SNOMEDCT-BE (disorder) / 773749003
Rare syndrome with characteristics of the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit. Dysplasia may involve the mitral, tricuspidal, aortic and pulmonary valves. Dysmorphic facial anomalies are
syndrome de la maladie cardiaque polyvalvulaire
SNOMEDCT-BE (disorder) / 723448007
SNOMEDCT-BE (disorder) / 723448007
A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are prenatal and postnatal growth delay, mild to severe intellectual disability, hemiatrophy, webbed neck, ocular and cutaneous pigmentary anomalies, cran
trisomie 22 en mosaïque
SNOMEDCT-BE (disorder) / 764625002
SNOMEDCT-BE (disorder) / 764625002
A lethal skeletal dysplasia with characteristics of cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralisati
ostéocraniosténose
SNOMEDCT-BE (disorder) / 722109008
SNOMEDCT-BE (disorder) / 722109008
A rare chromosomal anomaly syndrome characterized by pre and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (for example brachy/clinodactyly, talipes equinovarus, nail hypoplasi
monosomie distale 15q
SNOMEDCT-BE (for example brachy/clinodactyly, talipes equinovarus, nail hypoplasi / 766050000
SNOMEDCT-BE (disorder) / 766050000
A rare chromosomal anomaly with characteristics of prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and
syndrome de microduplication 3q26
SNOMEDCT-BE (disorder) / 778073001
SNOMEDCT-BE (disorder) / 778073001
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'anomaly'
Date index:2022-05-03 -
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