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CHH syndrome
Cartilage-hair-hypoplasia

Translation of "Cartilage-hair-hypoplasia " (English → French) :

cartilage-hair-hypoplasia | CHH syndrome
http://gdt.oqlf.gouv.qc.ca/fic (...) (...) [HTML] [2018-01-01]
chondrodysplasie métaphysaire type Mac Kusick
médecine
médecine
http://gdt.oqlf.gouv.qc.ca/fic (...) (...) [HTML] [2018-01-01]
http://gdt.oqlf.gouv.qc.ca/fic (...) [HTML] [2018-01-01]
A type of oculocutaneous albinism found in one Pakistani family to date, with characteristics of white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity. Affects males and females equally. Mapped to a locus on ch
https://browser.ihtsdotools.or (...) (...) [HTML] [2018-01-01]
albinisme oculo-cutané type 5
SNOMEDCT-BE (disorder) / 722057000
SNOMEDCT-BE (disorder) / 722057000
https://browser.ihtsdotools.or (...) (...) [HTML] [2018-01-01]
https://browser.ihtsdotools.or (...) [HTML] [2018-01-01]
A type of oculocutaneous albinism recently discovered in one Chinese family, with characteristics of light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity. Cause
https://browser.ihtsdotools.or (...) (...) [HTML] [2018-01-01]
albinisme oculo-cutané type 6
SNOMEDCT-BE (disorder) / 722058005
SNOMEDCT-BE (disorder) / 722058005
https://browser.ihtsdotools.or (...) (...) [HTML] [2018-01-01]
https://browser.ihtsdotools.or (...) [HTML] [2018-01-01]
A multiple congenital anomalies/dysmorphic syndrome with characteristics of intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, na
https://browser.ihtsdotools.or (...) (...) [HTML] [2018-01-01]
syndrome de Kozlowski-Krajewska
SNOMEDCT-BE (disorder) / 763742008
SNOMEDCT-BE (disorder) / 763742008
https://browser.ihtsdotools.or (...) (...) [HTML] [2018-01-01]
https://browser.ihtsdotools.or (...) [HTML] [2018-01-01]


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'Cartilage-hair-hypoplasia'

Date index:2023-11-27 -

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