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AOC - albinisme oculo-cutané
Albinisme oculo-cutané
Albinisme oculo-cutané type 1
Albinisme oculo-cutané type 2
Albinisme oculo-cutané type 4
Albinisme oculo-cutané type 5
Albinisme oculo-cutané type 6
Albinisme oculo-cutané type 7

Translation of "aoc albinisme oculo-cutané " (French → English) :

AOC - albinisme oculo-cutané
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Albinismus totalis
SNOMEDCT-BE (disorder) / 63844009
SNOMEDCT-BE (disorder) / 63844009
https://browser.ihtsdotools.or (...) (...) [HTML]
https://browser.ihtsdotools.or (...) [HTML]
albinisme oculo-cutané type 4
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A type of Oculocutaneous albinism with varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. Cutaneous hypopigmentation is often visible at birth and signs of nystagmus and strabi
SNOMEDCT-BE (disorder) / 715632003
SNOMEDCT-BE (disorder) / 715632003
https://browser.ihtsdotools.or (...) (...) [HTML]
https://browser.ihtsdotools.or (...) [HTML]
albinisme oculo-cutané type 5
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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
SNOMEDCT-BE (disorder) / 722057000
SNOMEDCT-BE (disorder) / 722057000
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https://browser.ihtsdotools.or (...) [HTML]
albinisme oculo-cutané type 6
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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
SNOMEDCT-BE (disorder) / 722058005
SNOMEDCT-BE (disorder) / 722058005
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https://browser.ihtsdotools.or (...) [HTML]
albinisme oculo-cutané type 7
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A form of oculocutaneous albinism with characteristics of skin and hair hypopigmentation, nystagmus and iris transillumination. The prevalence is unknown. It has been discovered in several Faroese families and one patient of Lithuanian origin. Patien
SNOMEDCT-BE (disorder) / 722059002
SNOMEDCT-BE (disorder) / 722059002
https://browser.ihtsdotools.or (...) (...) [HTML]
https://browser.ihtsdotools.or (...) [HTML]
albinisme oculo-cutané type 2
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Oculocutaneous albinism type 2
SNOMEDCT-CA (trouble) / 26336006
SNOMEDCT-CA (trouble) / 26336006
https://browser.ihtsdotools.or (...) (...) [HTML]
https://browser.ihtsdotools.or (...) [HTML]
albinisme oculo-cutané
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Total albinism
SNOMEDCT-BE (disorder) / 63844009
SNOMEDCT-BE (disorder) / 63844009
https://browser.ihtsdotools.or (...) (...) [HTML]
https://browser.ihtsdotools.or (...) [HTML]
albinisme oculo-cutané type 1
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A group of tyrosine related oculocutaneous albinism (OCA1) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). The phenotypic spectrum seen in OCA1 i
SNOMEDCT-BE (disorder) / 765146000
SNOMEDCT-BE (OCA1) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). The phenotypic spectrum seen in OCA1 i / 765146000
https://browser.ihtsdotools.or (...) (...) [HTML]
https://browser.ihtsdotools.or (...) [HTML]


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aoc albinisme oculo-cutané

Date index:2022-04-12 -

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