DISEASES Eye Diseases [C11] Eye Diseases Eye Diseases, Hereditary [C11.270] Eye Diseases, Hereditary Aicardi Syndrome [C11.270.019] Aicardi Syndrome Albinism [C11.270.040] Albinism Aniridia [C11.270.060] Aniridia Choroideremia [C11.270.142] Choroideremia Coloboma [C11.270.147] Coloboma Cone Dystrophy [C11.270.151] Cone Dystrophy Cone-Rod Dystrophies [C11.270.152] Cone-Rod Dystrophies Corneal Dystrophies, Hereditary [C11.270.162] Corneal Dystrophies, Hereditary Duane Retraction Syndrome [C11.270.235] Duane Retraction Syndrome Familial Exudative Vitreoretinopathies [C11.270.238] Familial Exudative Vitreoretinopathies Graves Ophthalmopathy [C11.270.240] Graves Ophthalmopathy Gyrate Atrophy [C11.270.468] Gyrate Atrophy Leber Congenital Amaurosis [C11.270.516] Leber Congenital Amaurosis Optic Atrophies, Hereditary [C11.270.564] Optic Atrophies, Hereditary Optic Nerve Hypoplasia [C11.270.588] Optic Nerve Hypoplasia Retinal Degeneration [C11.270.612] Retinal Degeneration Retinal Dysplasia [C11.270.660] Retinal Dysplasia Retinitis Pigmentosa [C11.270.684] Retinitis Pigmentosa Retinoblastoma [C11.270.862] Retinoblastoma Stargardt Disease [C11.270.872] Stargardt Disease Walker-Warburg Syndrome [C11.270.881] Walker-Warburg Syndrome Weill-Marchesani Syndrome [C11.270.921] Weill-Marchesani Syndrome DISEASES Eye Diseases [C11] Eye Diseases Uveal Diseases [C11.941] Uveal Diseases Choroid Diseases [C11.941.160] Choroid Diseases Choroid Hemorrhage [C11.941.160.177] Choroid Hemorrhage Choroid Neoplasms [C11.941.160.238] Choroid Neoplasms Choroidal Effusions [C11.941.160.241] Choroidal Effusions Choroidal Neovascularization [C11.941.160.244] Choroidal Neovascularization Choroideremia [C11.941.160.300] Choroideremia Choroiditis [C11.941.160.478] Choroiditis Gyrate Atrophy [C11.941.160.578] Gyrate Atrophy DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Eye Diseases, Hereditary [C16.320.290] Eye Diseases, Hereditary Aicardi Syndrome [C16.320.290.019] Aicardi Syndrome Albinism [C16.320.290.040] Albinism Aniridia [C16.320.290.078] Aniridia Choroideremia [C16.320.290.142] Choroideremia Cone-Rod Dystrophies [C16.320.290.152] Cone-Rod Dystrophies Corneal Dystrophies, Hereditary [C16.320.290.162] Corneal Dystrophies, Hereditary Duane Retraction Syndrome [C16.320.290.235] Duane Retraction Syndrome Familial Exudative Vitreoretinopathies [C16.320.290.352] Familial Exudative Vitreoretinopathies Graves Ophthalmopathy [C16.320.290.410] Graves Ophthalmopathy Gyrate Atrophy [C16.320.290.468] Gyrate Atrophy Optic Atrophies, Hereditary [C16.320.290.564] Optic Atrophies, Hereditary Optic Nerve Hypoplasia [C16.320.290.612] Optic Nerve Hypoplasia Retinal Dysplasia [C16.320.290.660] Retinal Dysplasia Retinitis Pigmentosa [C16.320.290.684] Retinitis Pigmentosa Stargardt Disease [C16.320.290.724] Stargardt Disease Vitelliform Macular Dystrophy [C16.320.290.763] Vitelliform Macular Dystrophy Weill-Marchesani Syndrome [C16.320.290.842] Weill-Marchesani Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Genetic Diseases, X-Linked [C16.320.322] Genetic Diseases, X-Linked Aicardi Syndrome [C16.320.322.030] Aicardi Syndrome Androgen-Insensitivity Syndrome [C16.320.322.061] Androgen-Insensitivity Syndrome Barth Syndrome [C16.320.322.068] Barth Syndrome Bulbo-Spinal Atrophy, X-Linked [C16.320.322.076] Bulbo-Spinal Atrophy, X-Linked Choroideremia [C16.320.322.092] Choroideremia Dent Disease [C16.320.322.100] Dent Disease Dyskeratosis Congenita [C16.320.322.108] Dyskeratosis Congenita Ectodermal Dysplasia 1, Anhidrotic [C16.320.322.116] Ectodermal Dysplasia 1, Anhidrotic Fabry Disease [C16.320.322.124] Fabry Disease Focal Dermal Hypoplasia [C16.320.322.186] Focal Dermal Hypoplasia Glycogen Storage Disease Type IIb [C16.320.322.201] Glycogen Storage Disease Type IIb Glycogen Storage Disease Type VIII [C16.320.322.217] Glycogen Storage Disease Type VIII Granulomatous Disease, Chronic [C16.320.322.233] Granulomatous Disease, Chronic Hemophilia B [C16.320.322.235] Hemophilia B Hyper-IgM Immunodeficiency Syndrome, Type 1 [C16.320.322.237] Hyper-IgM Immunodeficiency Syndrome, Type 1 Ichthyosis, X-Linked [C16.320.322.241] Ichthyosis, X-Linked Isolated Noncompaction of the Ventricular Myocardium [C16.320.322.370] Isolated Noncompaction of the Ventricular Myocardium Mental Retardation, X-Linked [C16.320.322.500] Mental Retardation, X-Linked Muscular Dystrophy, Duchenne [C16.320.322.562] Muscular Dystrophy, Duchenne Muscular Dystrophy, Emery-Dreifuss [C16.320.322.625] Muscular Dystrophy, Emery-Dreifuss Oculocerebrorenal Syndrome [C16.320.322.750] Oculocerebrorenal Syndrome Ornithine Carbamoyltransferase Deficiency Disease [C16.320.322.828] Ornithine Carbamoyltransferase Deficiency Disease Pelizaeus-Merzbacher Disease [C16.320.322.906] Pelizaeus-Merzbacher Disease Wiskott-Aldrich Syndrome [C16.320.322.937] Wiskott-Aldrich Syndrome X-Linked Combined Immunodeficiency Diseases [C16.320.322.968] X-Linked Combined Immunodeficiency Diseases

Choroideremia - Preferred

Concept UI	M0024194
Scope note	An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness.
Preferred term	Choroideremia
Entry term(s)	Choroideremias Dystrophies, Progressive Tapetochoroidal Dystrophy, Progressive Tapetochoroidal Progressive Tapetochoroidal Dystrophies Progressive Tapetochoroidal Dystrophy Tapetochoroidal Dystrophies, Progressive Tapetochoroidal Dystrophy, Progressive