DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Skin Abnormalities [C16.131.831] Skin Abnormalities Acrodermatitis [C16.131.831.066] Acrodermatitis Carney Complex [C16.131.831.108] Carney Complex Dyskeratosis Congenita [C16.131.831.150] Dyskeratosis Congenita Ectodermal Dysplasia [C16.131.831.350] Ectodermal Dysplasia Ehlers-Danlos Syndrome [C16.131.831.428] Ehlers-Danlos Syndrome Epidermolysis Bullosa [C16.131.831.493] Epidermolysis Bullosa Ichthyosis [C16.131.831.512] Ichthyosis Incontinentia Pigmenti [C16.131.831.580] Incontinentia Pigmenti Port-Wine Stain [C16.131.831.675] Port-Wine Stain Prolidase Deficiency [C16.131.831.720] Prolidase Deficiency Pseudoxanthoma Elasticum [C16.131.831.766] Pseudoxanthoma Elasticum Rothmund-Thomson Syndrome [C16.131.831.775] Rothmund-Thomson Syndrome Sclerema Neonatorum [C16.131.831.812] Sclerema Neonatorum Trichothiodystrophy Syndromes [C16.131.831.874] Trichothiodystrophy Syndromes Xeroderma Pigmentosum [C16.131.831.936] Xeroderma Pigmentosum 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 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 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Infant, Newborn, Diseases [C16.614] Infant, Newborn, Diseases Amniotic Band Syndrome [C16.614.042] Amniotic Band Syndrome Anemia, Neonatal [C16.614.053] Anemia, Neonatal Asphyxia Neonatorum [C16.614.092] Asphyxia Neonatorum Birth Injuries [C16.614.131] Birth Injuries Colic [C16.614.166] Colic Congenital Bone Marrow Failure Syndromes [C16.614.183] Congenital Bone Marrow Failure Syndromes Congenital Hyperinsulinism [C16.614.200] Congenital Hyperinsulinism Cystic Fibrosis [C16.614.213] Cystic Fibrosis Epilepsy, Benign Neonatal [C16.614.258] Epilepsy, Benign Neonatal Erythroblastosis, Fetal [C16.614.304] Erythroblastosis, Fetal Hernia, Umbilical [C16.614.378] Hernia, Umbilical Hydrophthalmos [C16.614.438] Hydrophthalmos Hyperbilirubinemia, Neonatal [C16.614.451] Hyperbilirubinemia, Neonatal Hyperostosis, Cortical, Congenital [C16.614.465] Hyperostosis, Cortical, Congenital Ichthyosis [C16.614.492] Ichthyosis Infant, Premature, Diseases [C16.614.521] Infant, Premature, Diseases Meconium Aspiration Syndrome [C16.614.580] Meconium Aspiration Syndrome Mobius Syndrome [C16.614.595] Mobius Syndrome Neonatal Abstinence Syndrome [C16.614.610] Neonatal Abstinence Syndrome Neonatal Sepsis [C16.614.627] Neonatal Sepsis Nystagmus, Congenital [C16.614.643] Nystagmus, Congenital Ophthalmia Neonatorum [C16.614.677] Ophthalmia Neonatorum Persistent Fetal Circulation Syndrome [C16.614.694] Persistent Fetal Circulation Syndrome Rothmund-Thomson Syndrome [C16.614.760] Rothmund-Thomson Syndrome Sclerema Neonatorum [C16.614.810] Sclerema Neonatorum Severe Combined Immunodeficiency [C16.614.815] Severe Combined Immunodeficiency Syphilis, Congenital [C16.614.868] Syphilis, Congenital Thanatophoric Dysplasia [C16.614.890] Thanatophoric Dysplasia Thrombocytopenia, Neonatal Alloimmune [C16.614.899] Thrombocytopenia, Neonatal Alloimmune Toxoplasmosis, Congenital [C16.614.909] Toxoplasmosis, Congenital Vitamin K Deficiency Bleeding [C16.614.940] Vitamin K Deficiency Bleeding Wolman Disease [C16.614.947] Wolman Disease DISEASES Skin and Connective Tissue Diseases [C17] Skin and Connective Tissue Diseases Skin Diseases [C17.800] Skin Diseases Skin Abnormalities [C17.800.804] Skin Abnormalities Acrodermatitis [C17.800.804.066] Acrodermatitis Anetoderma [C17.800.804.108] Anetoderma Dyskeratosis Congenita [C17.800.804.150] Dyskeratosis Congenita Ectodermal Dysplasia [C17.800.804.350] Ectodermal Dysplasia Ehlers-Danlos Syndrome [C17.800.804.428] Ehlers-Danlos Syndrome Epidermolysis Bullosa [C17.800.804.493] Epidermolysis Bullosa Ichthyosis [C17.800.804.512] Ichthyosis Incontinentia Pigmenti [C17.800.804.580] Incontinentia Pigmenti Port-Wine Stain [C17.800.804.675] Port-Wine Stain Pseudoxanthoma Elasticum [C17.800.804.766] Pseudoxanthoma Elasticum Rothmund-Thomson Syndrome [C17.800.804.775] Rothmund-Thomson Syndrome Sclerema Neonatorum [C17.800.804.812] Sclerema Neonatorum Trichothiodystrophy Syndromes [C17.800.804.874] Trichothiodystrophy Syndromes Xeroderma Pigmentosum [C17.800.804.936] Xeroderma Pigmentosum 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 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 DNA Repair-Deficiency Disorders [C18.452.284] DNA Repair-Deficiency Disorders Ataxia Telangiectasia [C18.452.284.060] Ataxia Telangiectasia Bloom Syndrome [C18.452.284.100] Bloom Syndrome Cockayne Syndrome [C18.452.284.250] Cockayne Syndrome Colorectal Neoplasms, Hereditary Nonpolyposis [C18.452.284.255] Colorectal Neoplasms, Hereditary Nonpolyposis Fanconi Anemia [C18.452.284.280] Fanconi Anemia Li-Fraumeni Syndrome [C18.452.284.520] Li-Fraumeni Syndrome Nijmegen Breakage Syndrome [C18.452.284.600] Nijmegen Breakage Syndrome Rothmund-Thomson Syndrome [C18.452.284.760] Rothmund-Thomson Syndrome Severe Combined Immunodeficiency [C18.452.284.800] Severe Combined Immunodeficiency Werner Syndrome [C18.452.284.960] Werner Syndrome Xeroderma Pigmentosum [C18.452.284.975] Xeroderma Pigmentosum

Rothmund-Thomson Syndrome - Conceito preferido

Identificador do conceito	M0017095
Nota de escopo	An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.
Termo preferido	Rothmund-Thomson Syndrome
Termo(s) alternativo(s)	Congenital Poikiloderma Congenitale, Poikiloderma Congenitales, Poikiloderma Poikiloderma Atrophicans and Cataract Poikiloderma Congenitale Poikiloderma Congenitale of Rothmund-Thomson Poikiloderma Congenitales Poikiloderma of Rothmund Thomson Poikiloderma of Rothmund-Thomson Rothmund Thomson Syndrome Rothmund-Thomson Poikiloderma Rothmund-Thomson Poikilodermas Syndrome, Rothmund-Thomson