DISEASES Nervous System Diseases [C10] Nervous System Diseases Nervous System Malformations [C10.500] Nervous System Malformations Agenesis of Corpus Callosum [C10.500.034] Agenesis of Corpus Callosum Acrocallosal Syndrome [C10.500.034.500] Acrocallosal Syndrome Aicardi Syndrome [C10.500.034.687] Aicardi Syndrome Holoprosencephaly [C10.500.034.875] Holoprosencephaly Septo-Optic Dysplasia [C10.500.034.937] Septo-Optic Dysplasia 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 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Abnormalities, Drug-Induced [C16.131.042] Abnormalities, Drug-Induced Abnormalities, Multiple [C16.131.077] Abnormalities, Multiple Abnormalities, Radiation-Induced [C16.131.080] Abnormalities, Radiation-Induced Abnormalities, Severe Teratoid [C16.131.085] Abnormalities, Severe Teratoid Aicardi Syndrome [C16.131.162] Aicardi Syndrome Cardiovascular Abnormalities [C16.131.240] Cardiovascular Abnormalities Chromosome Disorders [C16.131.260] Chromosome Disorders Congenital Microtia [C16.131.287] Congenital Microtia Digestive System Abnormalities [C16.131.314] Digestive System Abnormalities Eye Abnormalities [C16.131.384] Eye Abnormalities Hernias, Diaphragmatic, Congenital [C16.131.433] Hernias, Diaphragmatic, Congenital Lymphatic Abnormalities [C16.131.482] Lymphatic Abnormalities Musculoskeletal Abnormalities [C16.131.621] Musculoskeletal Abnormalities Nervous System Malformations [C16.131.666] Nervous System Malformations Respiratory System Abnormalities [C16.131.740] Respiratory System Abnormalities Situs Inversus [C16.131.810] Situs Inversus Skin Abnormalities [C16.131.831] Skin Abnormalities Stomatognathic System Abnormalities [C16.131.850] Stomatognathic System Abnormalities Thyroid Dysgenesis [C16.131.894] Thyroid Dysgenesis Urogenital Abnormalities [C16.131.939] Urogenital Abnormalities DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Nervous System Malformations [C16.131.666] Nervous System Malformations Agenesis of Corpus Callosum [C16.131.666.034] Agenesis of Corpus Callosum Acrocallosal Syndrome [C16.131.666.034.500] Acrocallosal Syndrome Aicardi Syndrome [C16.131.666.034.687] Aicardi Syndrome Holoprosencephaly [C16.131.666.034.875] Holoprosencephaly Septo-Optic Dysplasia [C16.131.666.034.937] Septo-Optic Dysplasia 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

Aicardi Syndrome - Conceito preferido

Identificador do conceito	M0543078
Nota de escopo	A rare genetic disorder characterized by partial or complete absence of the CORPUS CALLOSUM, resulting in infantile spasms, MENTAL RETARDATION, and lesions of the RETINA or OPTIC NERVE.
Termo preferido	Aicardi Syndrome
Termo(s) alternativo(s)	Agenesis of Corpus Callosum with Chorioretinal Abnormality Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities Aicardi's Syndrome Callosal Agenesis and Ocular Abnormalities Chorioretinal Anomalies with Acc Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality Syndrome, Aicardi Syndrome, Aicardi's