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 Albinism, Ocular [C11.270.040.090] Albinism, Ocular Albinism, Oculocutaneous [C11.270.040.545] Albinism, Oculocutaneous Chediak-Higashi Syndrome [C11.270.040.772] Chediak-Higashi Syndrome 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 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 Albinism, Ocular [C16.320.290.040.090] Albinism, Ocular Albinism, Oculocutaneous [C16.320.290.040.100] Albinism, Oculocutaneous Piebaldism [C16.320.290.040.600] Piebaldism 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 Metabolism, Inborn Errors [C16.320.565] Metabolism, Inborn Errors Amino Acid Metabolism, Inborn Errors [C16.320.565.100] Amino Acid Metabolism, Inborn Errors Albinism [C16.320.565.100.102] Albinism Albinism, Ocular [C16.320.565.100.102.090] Albinism, Ocular Albinism, Oculocutaneous [C16.320.565.100.102.100] Albinism, Oculocutaneous Piebaldism [C16.320.565.100.102.600] Piebaldism Alkaptonuria [C16.320.565.100.187] Alkaptonuria Hyperglycinemia, Nonketotic [C16.320.565.100.477] Hyperglycinemia, Nonketotic Hyperhomocysteinemia [C16.320.565.100.480] Hyperhomocysteinemia Hyperlysinemias [C16.320.565.100.544] Hyperlysinemias Maple Syrup Urine Disease [C16.320.565.100.608] Maple Syrup Urine Disease Multiple Acyl Coenzyme A Dehydrogenase Deficiency [C16.320.565.100.614] Multiple Acyl Coenzyme A Dehydrogenase Deficiency Multiple Carboxylase Deficiency [C16.320.565.100.620] Multiple Carboxylase Deficiency Phenylketonurias [C16.320.565.100.766] Phenylketonurias Prolidase Deficiency [C16.320.565.100.794] Prolidase Deficiency Propionic Acidemia [C16.320.565.100.823] Propionic Acidemia Tyrosinemias [C16.320.565.100.880] Tyrosinemias Urea Cycle Disorders, Inborn [C16.320.565.100.940] Urea Cycle Disorders, Inborn DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Skin Diseases, Genetic [C16.320.850] Skin Diseases, Genetic Albinism [C16.320.850.080] Albinism Albinism, Ocular [C16.320.850.080.090] Albinism, Ocular Albinism, Oculocutaneous [C16.320.850.080.100] Albinism, Oculocutaneous Piebaldism [C16.320.850.080.600] Piebaldism Cutis Laxa [C16.320.850.180] Cutis Laxa Darier Disease [C16.320.850.190] Darier Disease Dermatitis, Atopic [C16.320.850.210] Dermatitis, Atopic Dyskeratosis Congenita [C16.320.850.235] Dyskeratosis Congenita Ectodermal Dysplasia [C16.320.850.250] Ectodermal Dysplasia Ehlers-Danlos Syndrome [C16.320.850.260] Ehlers-Danlos Syndrome Epidermolysis Bullosa [C16.320.850.275] Epidermolysis Bullosa Erythrokeratodermia Variabilis [C16.320.850.337] Erythrokeratodermia Variabilis Hyaline Fibromatosis Syndrome [C16.320.850.368] Hyaline Fibromatosis Syndrome Ichthyosiform Erythroderma, Congenital [C16.320.850.400] Ichthyosiform Erythroderma, Congenital Ichthyosis Bullosa of Siemens [C16.320.850.402] Ichthyosis Bullosa of Siemens Ichthyosis Vulgaris [C16.320.850.405] Ichthyosis Vulgaris Ichthyosis, X-Linked [C16.320.850.408] Ichthyosis, X-Linked Incontinentia Pigmenti [C16.320.850.420] Incontinentia Pigmenti Keratoderma, Palmoplantar [C16.320.850.475] Keratoderma, Palmoplantar Leukokeratosis, Hereditary Mucosal [C16.320.850.542] Leukokeratosis, Hereditary Mucosal Lipoid Proteinosis of Urbach and Wiethe [C16.320.850.595] Lipoid Proteinosis of Urbach and Wiethe Monilethrix [C16.320.850.647] Monilethrix Netherton Syndrome [C16.320.850.673] Netherton Syndrome Pemphigus, Benign Familial [C16.320.850.700] Pemphigus, Benign Familial Porokeratosis [C16.320.850.730] Porokeratosis Porphyria, Erythropoietic [C16.320.850.738] Porphyria, Erythropoietic Porphyrias, Hepatic [C16.320.850.742] Porphyrias, Hepatic Prolidase Deficiency [C16.320.850.746] Prolidase Deficiency Pseudoxanthoma Elasticum [C16.320.850.750] Pseudoxanthoma Elasticum Rothmund-Thomson Syndrome [C16.320.850.765] Rothmund-Thomson Syndrome Sjogren-Larsson Syndrome [C16.320.850.820] Sjogren-Larsson Syndrome Trichothiodystrophy Syndromes [C16.320.850.895] Trichothiodystrophy Syndromes Xeroderma Pigmentosum [C16.320.850.970] Xeroderma Pigmentosum DISEASES Skin and Connective Tissue Diseases [C17] Skin and Connective Tissue Diseases Skin Diseases [C17.800] Skin Diseases Pigmentation Disorders [C17.800.621] Pigmentation Disorders Hypopigmentation [C17.800.621.440] Hypopigmentation Albinism [C17.800.621.440.102] Albinism Albinism, Ocular [C17.800.621.440.102.090] Albinism, Ocular Albinism, Oculocutaneous [C17.800.621.440.102.100] Albinism, Oculocutaneous Piebaldism [C17.800.621.440.102.600] Piebaldism Vitiligo [C17.800.621.440.895] Vitiligo DISEASES Skin and Connective Tissue Diseases [C17] Skin and Connective Tissue Diseases Skin Diseases [C17.800] Skin Diseases Skin Diseases, Genetic [C17.800.827] Skin Diseases, Genetic Albinism [C17.800.827.080] Albinism Albinism, Ocular [C17.800.827.080.090] Albinism, Ocular Albinism, Oculocutaneous [C17.800.827.080.100] Albinism, Oculocutaneous Piebaldism [C17.800.827.080.600] Piebaldism Cutis Laxa [C17.800.827.180] Cutis Laxa Darier Disease [C17.800.827.190] Darier Disease Dermatitis, Atopic [C17.800.827.210] Dermatitis, Atopic Dyskeratosis Congenita [C17.800.827.235] Dyskeratosis Congenita Ectodermal Dysplasia [C17.800.827.250] Ectodermal Dysplasia Ehlers-Danlos Syndrome [C17.800.827.260] Ehlers-Danlos Syndrome Epidermolysis Bullosa [C17.800.827.275] Epidermolysis Bullosa Erythrokeratodermia Variabilis [C17.800.827.337] Erythrokeratodermia Variabilis Hereditary Autoinflammatory Diseases [C17.800.827.368] Hereditary Autoinflammatory Diseases Hyaline Fibromatosis Syndrome [C17.800.827.384] Hyaline Fibromatosis Syndrome Ichthyosiform Erythroderma, Congenital [C17.800.827.400] Ichthyosiform Erythroderma, Congenital Ichthyosis Bullosa of Siemens [C17.800.827.403] Ichthyosis Bullosa of Siemens Ichthyosis Vulgaris [C17.800.827.405] Ichthyosis Vulgaris Ichthyosis, X-Linked [C17.800.827.408] Ichthyosis, X-Linked Incontinentia Pigmenti [C17.800.827.420] Incontinentia Pigmenti Keratoderma, Palmoplantar [C17.800.827.475] Keratoderma, Palmoplantar Leukokeratosis, Hereditary Mucosal [C17.800.827.595] Leukokeratosis, Hereditary Mucosal Monilethrix [C17.800.827.602] Monilethrix Muir-Torre Syndrome [C17.800.827.610] Muir-Torre Syndrome Netherton Syndrome [C17.800.827.655] Netherton Syndrome Pemphigus, Benign Familial [C17.800.827.700] Pemphigus, Benign Familial Porokeratosis [C17.800.827.730] Porokeratosis Porphyria, Erythropoietic [C17.800.827.738] Porphyria, Erythropoietic Porphyrias, Hepatic [C17.800.827.742] Porphyrias, Hepatic Pseudoxanthoma Elasticum [C17.800.827.750] Pseudoxanthoma Elasticum Rothmund-Thomson Syndrome [C17.800.827.775] Rothmund-Thomson Syndrome Sjogren-Larsson Syndrome [C17.800.827.820] Sjogren-Larsson Syndrome Trichothiodystrophy Syndromes [C17.800.827.895] Trichothiodystrophy Syndromes Xeroderma Pigmentosum [C17.800.827.970] Xeroderma Pigmentosum DISEASES Nutritional and Metabolic Diseases [C18] Nutritional and Metabolic Diseases Metabolic Diseases [C18.452] Metabolic Diseases Metabolism, Inborn Errors [C18.452.648] Metabolism, Inborn Errors Amino Acid Metabolism, Inborn Errors [C18.452.648.100] Amino Acid Metabolism, Inborn Errors Albinism [C18.452.648.100.102] Albinism Albinism, Ocular [C18.452.648.100.102.090] Albinism, Ocular Albinism, Oculocutaneous [C18.452.648.100.102.100] Albinism, Oculocutaneous Piebaldism [C18.452.648.100.102.600] Piebaldism Alkaptonuria [C18.452.648.100.187] Alkaptonuria Hyperglycinemia, Nonketotic [C18.452.648.100.477] Hyperglycinemia, Nonketotic Hyperhomocysteinemia [C18.452.648.100.480] Hyperhomocysteinemia Hyperlysinemias [C18.452.648.100.544] Hyperlysinemias Maple Syrup Urine Disease [C18.452.648.100.608] Maple Syrup Urine Disease Multiple Acyl Coenzyme A Dehydrogenase Deficiency [C18.452.648.100.614] Multiple Acyl Coenzyme A Dehydrogenase Deficiency Multiple Carboxylase Deficiency [C18.452.648.100.620] Multiple Carboxylase Deficiency Phenylketonurias [C18.452.648.100.766] Phenylketonurias Propionic Acidemia [C18.452.648.100.823] Propionic Acidemia Tyrosinemias [C18.452.648.100.880] Tyrosinemias Urea Cycle Disorders, Inborn [C18.452.648.100.940] Urea Cycle Disorders, Inborn

Albinism - Concepto preferido

UI del concepto	M0000628
Nota de alcance	General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.
Término preferido	Albinism