A rare severe and life-threatening genetic disease occurring during the neonatal period. The disease has characteristics of classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpl

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syndrome de Marfan néonatal

SNOMEDCT-BE (megalocornea, iridodonesis, ectopia lentis, crumpl / 763839005

SNOMEDCT-BE (disorder) / 763839005

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https://browser.ihtsdotools.or (...) [HTML] [2018-01-01]

exstrophy of the urinary bladder | bladder exstrophy | exstrophy of the bladder | vesical ectopia | ectopia vesicae

http://gdt.oqlf.gouv.qc.ca/fic (...) (...) [HTML] [2018-01-01]

exstrophie vésicale | ectopie vésicale

médecine > néphrologie et urologie

http://gdt.oqlf.gouv.qc.ca/fic (...) (...) [HTML] [2018-01-01]

http://gdt.oqlf.gouv.qc.ca/fic (...) [HTML] [2018-01-01]

A rare form of patterned dystrophy of the retinal pigment epithelium characterised by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neo

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Fundus pulverulentus

SNOMEDCT-BE (disorder) / 770437002

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A malformation syndrome with the combination of bilateral coloboma of macula, horizontal pendular nystagmus, severe visual loss and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second

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syndrome de colobome maculaire-brachydactylie type B

SNOMEDCT-BE (disorder) / 717785002

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https://browser.ihtsdotools.or (...) [HTML] [2018-01-01]

sparing of the macula

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épargne maculaire

The Eye

Oeil

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http://www.btb.termiumplus.gc. (...) [HTML] [2018-01-01]