A rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions on brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, a

SNOMEDCT-BE (disorder) / 771476007

SNOMEDCT-BE (hypertelorism, a / 771476007

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

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

syndrome d'hypogonadisme hypogonadotrope-rétinite pigmentaire

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

Chang Davidson Carlson syndrome

SNOMEDCT-BE (disorder) / 733113002

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

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

syndrome de dyskinésie ciliaire primitive-rétinite pigmentaire

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

Primary ciliary dyskinesia and retinitis pigmentosa syndrome

SNOMEDCT-BE (disorder) / 719282008

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

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

syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique

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

A rare genetic non-syndromic developmental defect of the eye disorder with the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localised foveal schisis and optic disc drusen. Patients present high hype

SNOMEDCT-BE (disorder) / 778021002

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

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

rétinite pigmentaire

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

Retinitis pigmentosa

SNOMEDCT-BE (disorder) / 28835009

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

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

histoplasmose américaine avec rétinite

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

American histoplasmosis with retinitis