dědičné nemoci očí [Eye Diseases, Hereditary]

tematický
57
Termíny

oči - nemoci dědičné
vrozené nemoci oka

 

Hereditary Eye Diseases

Perzistentní odkaz   https://www.medvik.cz/link/D015785
Definice

Přenos genetických defektů nebo chromozomálních aberací/abnormalit, které se projevují mnoha různými způsoby ve struktuře nebo funkci oka. Mohou být patrné při narození, ale mohou se projevit později při rozvoji poruchy.

Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder.

DUI
D015785 MeSH Prohlížeč
CUI
M0024182
Předchozí užití
Eye Diseases/genetics (1966-1989)
Historická pozn.
90
Veřejná pozn.
90

C Nemoci
C11 oční nemoci 1 491
C11.093 astenopie 20
C11.204 nemoci rohovky 254
C11.270.040 albinismus 17
C11.270.060 aniridie 18
C11.270.142 choroideremie 3
C11.270.147 kolobom 14
C11.270.468 gyrátová atrofie 1
C11.270.612 degenerace retiny 75
C11.270.660 dysplazie retiny 4
C11.270.862 retinoblastom 159
C11.270.872 Stargardtova nemoc 6
C11.294 oční infekce 74
C11.297 poranění oka 372
C11.300 oční symptomy 293
C11.319 nádory oka 291
C11.675 nemoci orbity 152
C11.744 refrakční vady 328
C11.768 nemoci retiny 404
C11.790 nemoci skléry 16
C11.941 nemoci uvey 47
C11.966 poruchy zraku 709
C16.320.051 Alagillův syndrom 19
C16.320.100 Brugadův syndrom 40
C16.320.129 CADASIL 8
C16.320.165 CHARGE syndrom 1
C16.320.170 cherubismus 1
C16.320.184 ciliopatie 9
C16.320.188 Costellův syndrom 3
C16.320.190 cystická fibróza 1 330
C16.320.215 Donohueův syndrom 1
C16.320.240 nanismus 99
C16.320.290.019 Aicardiho syndrom
C16.320.290.040 albinismus 17
C16.320.290.078 aniridie 18
C16.320.290.142 choroideremie 3
C16.320.290.410 Gravesova oftalmopatie 58
C16.320.290.468 gyrátová atrofie 1
C16.320.290.660 dysplazie retiny 4
C16.320.290.684 retinopathia pigmentosa 56
C16.320.290.724 Stargardtova nemoc 6
C16.320.290.763 Bestova nemoc 5
C16.320.306 syndrom Frasier
C16.320.314 deficit GATA2 2
C16.320.365 hemoglobinopatie 68
C16.320.467 Kallmannův syndrom 10
C16.320.488 laminopatie 2
C16.320.540 Marfanův syndrom 105
C16.320.577 svalové dystrofie 140
C16.320.728 osteochondrodysplazie 125
C16.320.812 pyknodysostóza 2
C16.320.925 Wernerův syndrom 14

Achromatopsia 4 Disease MeSH Prohlížeč

Achromatopsia 5 Disease MeSH Prohlížeč

Acrootoocular Syndrome Disease MeSH Prohlížeč

Alacrima Disease MeSH Prohlížeč

Alacrima, Congenital Disease MeSH Prohlížeč

Ataxia-Microcephaly-Cataract Syndrome Disease MeSH Prohlížeč

Axenfeld-Rieger syndrome Disease MeSH Prohlížeč

Basal Laminar Drusen Disease MeSH Prohlížeč

Bestrophinopathy Disease MeSH Prohlížeč

Bothnia Retinal Dystrophy Disease MeSH Prohlížeč

CSNB1C Disease MeSH Prohlížeč

Cataract, Congenital Nuclear, Autosomal Recessive 1 Disease MeSH Prohlížeč

Cataract, Congenital Nuclear, Autosomal Recessive 2 Disease MeSH Prohlížeč

Cataract, Congenital Nuclear, Autosomal Recessive 3 Disease MeSH Prohlížeč

Cataract, Floriform Disease MeSH Prohlížeč

Cataract, Pulverulent Disease MeSH Prohlížeč

Cavitary Optic Disc Anomalies Disease MeSH Prohlížeč

Cholestasis with Gallstone, Ataxia, and Visual Disturbance Disease MeSH Prohlížeč

Cornea Plana 1 Disease MeSH Prohlížeč

Cornea Plana 2 Disease MeSH Prohlížeč

Enhanced S-Cone Syndrome Disease MeSH Prohlížeč

Fibrosis Of Extraocular Muscles, Congenital, 2 Disease MeSH Prohlížeč

Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement Disease MeSH Prohlížeč

Fibrosis of Extraocular Muscles, Congenital, 3B Disease MeSH Prohlížeč

Fibrosis of Extraocular Muscles, Congenital, 3C Disease MeSH Prohlížeč

Fleck Retina, Familial Benign Disease MeSH Prohlížeč

Foveal Hypoplasia with Anterior Segment Anomalies Disease MeSH Prohlížeč

Foveal Hypoplasia, Isolated Disease MeSH Prohlížeč

Glaucoma 1, Open Angle, P Disease MeSH Prohlížeč

Grouped Pigmentation of the Macula Disease MeSH Prohlížeč

Histiocytic Dermatoarthritis Disease MeSH Prohlížeč

Hyperopia, High Disease MeSH Prohlížeč

Hypomagnesemia 5, Renal, with Ocular Involvement Disease MeSH Prohlížeč

Iris Pigment Epithelium Anomalies Disease MeSH Prohlížeč

Joubert Syndrome 8 Disease MeSH Prohlížeč

Macular Dystrophy, X-Linked Disease MeSH Prohlížeč

Megalocornea Disease MeSH Prohlížeč

Microcephaly with Chorioretinopathy, Autosomal Recessive Disease MeSH Prohlížeč

Mydriasis, Congenital Disease MeSH Prohlížeč

Night Blindness, Congenital Stationary, Autosomal Dominant 1 Disease MeSH Prohlížeč

Night Blindness, Congenital Stationary, Autosomal Dominant 2 Disease MeSH Prohlížeč

Night Blindness, Congenital Stationary, Autosomal Dominant 3 Disease MeSH Prohlížeč

Night blindness, congenital stationary Disease MeSH Prohlížeč

Oguchi disease Disease MeSH Prohlížeč

Omphalocele, Diaphragmatic Hernia, And Radial Ray Defects Disease MeSH Prohlížeč

Ophthalmomandibulomelic Dysplasia Disease MeSH Prohlížeč

Peripapillary Atrophy, Beta Type Disease MeSH Prohlížeč

Persistent Hyperplastic Primary Vitreous, Autosomal Recessive Disease MeSH Prohlížeč

Pigmented Paravenous Chorioretinal Atrophy Disease MeSH Prohlížeč

Prolonged Electroretinal Response Suppression Disease MeSH Prohlížeč

Pseudopapilledema Disease MeSH Prohlížeč

Retinal Aplasia Disease MeSH Prohlížeč

Retinal Dystrophy, Early Onset Severe Disease MeSH Prohlížeč

Retinohepatoendocrinologic Syndrome Disease MeSH Prohlížeč

Rhegmatogenous Retinal Detachment, Autosomal Dominant Disease MeSH Prohlížeč

Spondyloocular Syndrome, Autosomal Recessive Disease MeSH Prohlížeč

Stickler Syndrome, Type I, Nonsyndromic Ocular Disease MeSH Prohlížeč

Vascular Hyalinosis Disease MeSH Prohlížeč

Vitreoretinochoroidopathy Disease MeSH Prohlížeč

Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia Disease MeSH Prohlížeč

Weill-Marchesani-Like Syndrome Disease MeSH Prohlížeč