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Translation of "rare anomaly " (English → French) :

TERMINOLOGY
see also In-Context Translations below
A rare anomaly with characteristics of fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour. It has been described only once in several members of a sin
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raccourcissement congénital du ligament costo-coracoïde
SNOMEDCT-BE (disorder) / 725101002
SNOMEDCT-BE (disorder) / 725101002
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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
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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
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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.
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syndrome génito-palato-cardiaque
SNOMEDCT-BE (disorder) / 773749003
SNOMEDCT-BE (disorder) / 773749003
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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
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trisomie 22 en mosaïque
SNOMEDCT-BE (disorder) / 764625002
SNOMEDCT-BE (disorder) / 764625002
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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
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syndrome de la maladie cardiaque polyvalvulaire
SNOMEDCT-BE (disorder) / 723448007
SNOMEDCT-BE (disorder) / 723448007
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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
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monosomie distale 15q
SNOMEDCT-BE (for example brachy/clinodactyly, talipes equinovarus, nail hypoplasi / 766050000
SNOMEDCT-BE (disorder) / 766050000
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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
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syndrome de microduplication 3q26
SNOMEDCT-BE (disorder) / 778073001
SNOMEDCT-BE (disorder) / 778073001
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https://browser.ihtsdotools.or (...) [HTML]
A rare multiple congenital anomalies syndrome with characteristics of mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlax
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syndrome cranio-facio-fronto-digital
SNOMEDCT-BE (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlax / 763320005
SNOMEDCT-BE (disorder) / 763320005
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A rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterised by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoo
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syndrome du chromosome Y en anneau
SNOMEDCT-BE (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoo / 763407008
SNOMEDCT-BE (disorder) / 763407008
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A rare chromosomal anomaly with clinical manifestations of mild to severe intellectual deficit, severe developmental delay, hypotonia with tendency to develop progressive hypertonia over time, minor facial anomalies and agenesis of the corpus callosu
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syndrome de duplication/délétion inversée 8p
SNOMEDCT-BE (disorder) / 718188007
SNOMEDCT-BE (disorder) / 718188007
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IN-CONTEXT TRANSLATIONS
Genetic factors Consanguinity (relationship by blood) increases the prevalence of rare genetic congenital anomalies and nearly doubles the risk for neonatal and childhood death, intellectual disability and serious birth anomalies in first cousin unions.
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Facteurs génétiques La consanguinité accroît la prévalence des anomalies congénitales génétiques rares en doublant pratiquement le risque de décès du nouveau-né et de l’enfant, de troubles intellectuels et d’anomalies congénitales graves chez l’enfant issu de cousins germains.
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In addition, because congenital anomalies are rare occurrences, pooling data from many jurisdictions allows for more powerful analyses and improved ability to detect trends and clusters.
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Par ailleurs, comme les anomalies congénitales sont rares, le fait de regrouper les données de plusieurs provinces et territoires permet de réaliser des analyses plus fructueuses et de mieux s’outiller pour déceler les tendances et les grappes de cas.
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Some ethnic communities, e.g. Ashkenazi Jews or Finns, have comparatively high prevalence of rare genetic mutations, leading to a higher risk of congenital anomalies.
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Certaines communautés ethniques, comme les juifs ashkénazes ou les Finlandais, présentent une prévalence relativement élevée de mutations génétiques rares avec un risque accru d’anomalies congénitales.
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Rare congenital anomalies Respiratory distress syndrome
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Anomalies congénitales rares Syndrome de détresse respiratoire
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Date index:2023-04-19 -

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