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Translation of "p11 2 deletion syndrome " (English → French) :
TERMINOLOGY
see also In-Context Translations below 9p deletion syndrome
monosomie 9p
SNOMEDCT-BE (disorder) / 771072001
SNOMEDCT-BE (disorder) / 771072001
8p11.2 deletion syndrome
del(8)(p11.2)
SNOMEDCT-BE (disorder) / 719646006
SNOMEDCT-BE (disorder) / 719646006
Long arm 18 deletion syndrome
monosomie partielle 18q
SNOMEDCT-BE (disorder) / 4242009
SNOMEDCT-BE (disorder) / 4242009
A recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. This syndrome is caused by an interstitial deletion encompassing 16q24.3. They vary in size the common region of
del(16)(q24.3)
SNOMEDCT-BE (disorder) / 719580004
SNOMEDCT-BE (disorder) / 719580004
A recently described syndrome with characteristics of developmental delay, microcephaly, short stature, heart defects and limb abnormalities. The syndrome is caused by an interstitial deletion encompassing 17q23.1q23.2. The underlying mechanism is no
syndrome de microdélétion 17q23.1q23.2
SNOMEDCT-BE (disorder) / 719584008
SNOMEDCT-BE (disorder) / 719584008
A rare chromosomal anomaly syndrome resulting from a partial interstitial deletion of the short arm of chromosome 9. The disease has characteristics of mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivi
syndrome de microdélétion 9p13
SNOMEDCT-BE (disorder) / 764725008
SNOMEDCT-BE (disorder) / 764725008
A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 10. The disease has a highly variable phenotype with principle characteristics of developmental delay (usually of language and speech), variable cogni
monosomie non distale 10q
SNOMEDCT-BE (usually of language and speech), variable cogni / 770665005
SNOMEDCT-BE (disorder) / 770665005
The association of X-linked Alport syndrome with leiomyomatosis of the oesophagus, tracheobronchial tree or female genitals has been reported in more than 30 families. The disease is due to a deletion involving the 5' terminal region of both COL4A5 a
syndrome d'Alport lié à l'X-léiomyomatose diffuse
SNOMEDCT-BE (disorder) / 726106004
SNOMEDCT-BE (disorder) / 726106004
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'p11 2 deletion syndrome'
Date index:2023-01-03 -
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