eye diseases, hereditary

Preferred Label : eye diseases, hereditary;

MeSH definition : 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.;

MeSH synonym : hereditary eye diseases; eye disease, hereditary; hereditary eye disease;

CISMeF synonym : disease, hereditary eye; diseases, hereditary eye;

Details

Origin ID

D015785;

UMLS CUI

C0015398;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- hereditary eye disorder [Disease (Nov.)]
Record concept(s)
- eye diseases, hereditary [MeSH concept]
Related MeSH Supplementary Concept(s)
- Ataxia-Microcephaly-Cataract syndrome [MeSH Supplementary Concept]
- Axenfeld-Rieger syndrome [MeSH Supplementary Concept]
- CSNB1C [MeSH Supplementary Concept]
- Glaucoma 1, Open Angle, P [MeSH Supplementary Concept]
- Weill-Marchesani-Like syndrome [MeSH Supplementary Concept]
- achromatopsia 4 [MeSH Supplementary Concept]
- achromatopsia 5 [MeSH Supplementary Concept]
- acrootoocular syndrome [MeSH Supplementary Concept]
- alacrima [MeSH Supplementary Concept]
- alacrima, congenital [MeSH Supplementary Concept]
- basal laminar drusen [MeSH Supplementary Concept]
- bestrophinopathy [MeSH Supplementary Concept]
- bothnia retinal dystrophy [MeSH Supplementary Concept]
- cataract, congenital nuclear, autosomal recessive 1 [MeSH Supplementary Concept]
- cataract, congenital nuclear, autosomal recessive 2 [MeSH Supplementary Concept]
- cataract, congenital nuclear, autosomal recessive 3 [MeSH Supplementary Concept]
- cataract, floriform [MeSH Supplementary Concept]
- cataract, pulverulent [MeSH Supplementary Concept]
- cavitary optic disc anomalies [MeSH Supplementary Concept]
- cholestasis with gallstone, ataxia, and visual disturbance [MeSH Supplementary Concept]
- congenital fibrosis of the extraocular muscles [MeSH Supplementary Concept]
- cornea plana 1 [MeSH Supplementary Concept]
- cornea plana 2 [MeSH Supplementary Concept]
- drusen, radial, autosomal dominant [MeSH Supplementary Concept]
- enhanced S-Cone syndrome [MeSH Supplementary Concept]
- fibrosis of extraocular muscles, congenital, 2 [MeSH Supplementary Concept]
- fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [MeSH Supplementary Concept]
- fibrosis of extraocular muscles, congenital, 3B [MeSH Supplementary Concept]
- fibrosis of extraocular muscles, congenital, 3C [MeSH Supplementary Concept]
- fleck retina, familial benign [MeSH Supplementary Concept]
- foveal hypoplasia with anterior segment anomalies [MeSH Supplementary Concept]
- foveal hypoplasia, isolated [MeSH Supplementary Concept]
- grouped pigmentation of the macula [MeSH Supplementary Concept]
- histiocytic dermatoarthritis [MeSH Supplementary Concept]
- hyperopia, high [MeSH Supplementary Concept]
- hypomagnesemia 5, renal, with ocular involvement [MeSH Supplementary Concept]
- iris pigment epithelium anomalies [MeSH Supplementary Concept]
- joubert syndrome 8 [MeSH Supplementary Concept]
- macular dystrophy, X-Linked [MeSH Supplementary Concept]
- megalocornea [MeSH Supplementary Concept]
- microcephaly with chorioretinopathy, autosomal recessive [MeSH Supplementary Concept]
- mydriasis, congenital [MeSH Supplementary Concept]
- night blindness, congenital stationary [MeSH Supplementary Concept]
- night blindness, congenital stationary, autosomal dominant 1 [MeSH Supplementary Concept]
- night blindness, congenital stationary, autosomal dominant 2 [MeSH Supplementary Concept]
- night blindness, congenital stationary, autosomal dominant 3 [MeSH Supplementary Concept]
- oguchi disease [MeSH Supplementary Concept]
- omphalocele, diaphragmatic hernia, and radial ray defects [MeSH Supplementary Concept]
- ophthalmomandibulomelic dysplasia [MeSH Supplementary Concept]
- peripapillary atrophy, beta type [MeSH Supplementary Concept]
- persistent hyperplastic primary vitreous, autosomal recessive [MeSH Supplementary Concept]
- pigmented paravenous chorioretinal atrophy [MeSH Supplementary Concept]
- prolonged electroretinal response suppression [MeSH Supplementary Concept]
- pseudopapilledema [MeSH Supplementary Concept]
- retinal aplasia [MeSH Supplementary Concept]
- retinal dystrophy, early onset severe [MeSH Supplementary Concept]
- retinohepatoendocrinologic syndrome [MeSH Supplementary Concept]
- rhegmatogenous retinal detachment, autosomal dominant [MeSH Supplementary Concept]
- spondyloocular syndrome, autosomal recessive [MeSH Supplementary Concept]
- stickler syndrome, type I, nonsyndromic ocular [MeSH Supplementary Concept]
- vascular hyalinosis [MeSH Supplementary Concept]
- vitreoretinochoroidopathy [MeSH Supplementary Concept]
- vitreoretinopathy with phalangeal epiphyseal dysplasia [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- eye [MeSH Descriptor]
- eye diseases [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hereditary eye disorder [Disease (Nov.)]

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