DISEASES Neoplasms [C04] Neoplasms Hamartoma [C04.445] Hamartoma Hamartoma Syndrome, Multiple [C04.445.435] Hamartoma Syndrome, Multiple Pallister-Hall Syndrome [C04.445.622] Pallister-Hall Syndrome Tuberous Sclerosis [C04.445.810] Tuberous Sclerosis DISEASES Neoplasms [C04] Neoplasms Neoplasms, Multiple Primary [C04.651] Neoplasms, Multiple Primary Hamartoma Syndrome, Multiple [C04.651.435] Hamartoma Syndrome, Multiple Multiple Endocrine Neoplasia [C04.651.600] Multiple Endocrine Neoplasia Tuberous Sclerosis [C04.651.800] Tuberous Sclerosis DISEASES Neoplasms [C04] Neoplasms Neoplastic Syndromes, Hereditary [C04.700] Neoplastic Syndromes, Hereditary Adenomatous Polyposis Coli [C04.700.100] Adenomatous Polyposis Coli Basal Cell Nevus Syndrome [C04.700.175] Basal Cell Nevus Syndrome Birt-Hogg-Dube Syndrome [C04.700.212] Birt-Hogg-Dube Syndrome Colorectal Neoplasms, Hereditary Nonpolyposis [C04.700.250] Colorectal Neoplasms, Hereditary Nonpolyposis Dysplastic Nevus Syndrome [C04.700.305] Dysplastic Nevus Syndrome Exostoses, Multiple Hereditary [C04.700.330] Exostoses, Multiple Hereditary Hamartoma Syndrome, Multiple [C04.700.435] Hamartoma Syndrome, Multiple Hereditary Breast and Ovarian Cancer Syndrome [C04.700.517] Hereditary Breast and Ovarian Cancer Syndrome Li-Fraumeni Syndrome [C04.700.600] Li-Fraumeni Syndrome Multiple Endocrine Neoplasia [C04.700.630] Multiple Endocrine Neoplasia Neurofibromatoses [C04.700.631] Neurofibromatoses Peutz-Jeghers Syndrome [C04.700.633] Peutz-Jeghers Syndrome Tuberous Sclerosis [C04.700.700] Tuberous Sclerosis Wilms Tumor [C04.700.900] Wilms Tumor DISEASES Nervous System Diseases [C10] Nervous System Diseases Nervous System Malformations [C10.500] Nervous System Malformations Malformations of Cortical Development [C10.500.507] Malformations of Cortical Development Malformations of Cortical Development, Group I [C10.500.507.400] Malformations of Cortical Development, Group I Focal Cortical Dysplasia [C10.500.507.400.125] Focal Cortical Dysplasia Hippocampal Sclerosis [C10.500.507.400.187] Hippocampal Sclerosis Megalencephaly [C10.500.507.400.249] Megalencephaly Microcephaly [C10.500.507.400.500] Microcephaly Tuberous Sclerosis [C10.500.507.400.750] Tuberous Sclerosis DISEASES Nervous System Diseases [C10] Nervous System Diseases Neurocutaneous Syndromes [C10.562] Neurocutaneous Syndromes Ataxia Telangiectasia [C10.562.100] Ataxia Telangiectasia Neurofibromatoses [C10.562.600] Neurofibromatoses Nevus, Sebaceous of Jadassohn [C10.562.700] Nevus, Sebaceous of Jadassohn Sturge-Weber Syndrome [C10.562.800] Sturge-Weber Syndrome Tuberous Sclerosis [C10.562.850] Tuberous Sclerosis von Hippel-Lindau Disease [C10.562.925] von Hippel-Lindau Disease DISEASES Nervous System Diseases [C10] Nervous System Diseases Neurodegenerative Diseases [C10.574] Neurodegenerative Diseases Heredodegenerative Disorders, Nervous System [C10.574.500] Heredodegenerative Disorders, Nervous System Alexander Disease [C10.574.500.024] Alexander Disease Amyloid Neuropathies, Familial [C10.574.500.050] Amyloid Neuropathies, Familial Bulbo-Spinal Atrophy, X-Linked [C10.574.500.175] Bulbo-Spinal Atrophy, X-Linked Canavan Disease [C10.574.500.300] Canavan Disease Cockayne Syndrome [C10.574.500.362] Cockayne Syndrome Dystonia Musculorum Deformans [C10.574.500.393] Dystonia Musculorum Deformans Gerstmann-Straussler-Scheinker Disease [C10.574.500.425] Gerstmann-Straussler-Scheinker Disease Hepatolenticular Degeneration [C10.574.500.487] Hepatolenticular Degeneration Hereditary Central Nervous System Demyelinating Diseases [C10.574.500.490] Hereditary Central Nervous System Demyelinating Diseases Hereditary Sensory and Autonomic Neuropathies [C10.574.500.493] Hereditary Sensory and Autonomic Neuropathies Hereditary Sensory and Motor Neuropathy [C10.574.500.495] Hereditary Sensory and Motor Neuropathy Huntington Disease [C10.574.500.497] Huntington Disease Lafora Disease [C10.574.500.529] Lafora Disease Myotonia Congenita [C10.574.500.545] Myotonia Congenita Myotonic Dystrophy [C10.574.500.547] Myotonic Dystrophy Neurofibromatoses [C10.574.500.549] Neurofibromatoses Neuronal Ceroid-Lipofuscinoses [C10.574.500.550] Neuronal Ceroid-Lipofuscinoses Optic Atrophies, Hereditary [C10.574.500.662] Optic Atrophies, Hereditary Pantothenate Kinase-Associated Neurodegeneration [C10.574.500.700] Pantothenate Kinase-Associated Neurodegeneration Spinal Muscular Atrophies of Childhood [C10.574.500.812] Spinal Muscular Atrophies of Childhood Spinocerebellar Degenerations [C10.574.500.825] Spinocerebellar Degenerations Tourette Syndrome [C10.574.500.850] Tourette Syndrome Tuberous Sclerosis [C10.574.500.865] Tuberous Sclerosis Unverricht-Lundborg Syndrome [C10.574.500.875] Unverricht-Lundborg Syndrome 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 Malformations of Cortical Development [C16.131.666.507] Malformations of Cortical Development Malformations of Cortical Development, Group I [C16.131.666.507.400] Malformations of Cortical Development, Group I Focal Cortical Dysplasia [C16.131.666.507.400.125] Focal Cortical Dysplasia Hippocampal Sclerosis [C16.131.666.507.400.187] Hippocampal Sclerosis Megalencephaly [C16.131.666.507.400.249] Megalencephaly Microcephaly [C16.131.666.507.400.500] Microcephaly Tuberous Sclerosis [C16.131.666.507.400.750] Tuberous Sclerosis DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System [C16.320.400] Heredodegenerative Disorders, Nervous System Alexander Disease [C16.320.400.024] Alexander Disease Amyloid Neuropathies, Familial [C16.320.400.050] Amyloid Neuropathies, Familial Bulbo-Spinal Atrophy, X-Linked [C16.320.400.100] Bulbo-Spinal Atrophy, X-Linked Canavan Disease [C16.320.400.150] Canavan Disease Cockayne Syndrome [C16.320.400.200] Cockayne Syndrome Dystonia Musculorum Deformans [C16.320.400.330] Dystonia Musculorum Deformans Gerstmann-Straussler-Scheinker Disease [C16.320.400.350] Gerstmann-Straussler-Scheinker Disease Hepatolenticular Degeneration [C16.320.400.361] Hepatolenticular Degeneration Hereditary Central Nervous System Demyelinating Diseases [C16.320.400.367] Hereditary Central Nervous System Demyelinating Diseases Hereditary Sensory and Motor Neuropathy [C16.320.400.375] Hereditary Sensory and Motor Neuropathy Hereditary Sensory and Autonomic Neuropathies [C16.320.400.415] Hereditary Sensory and Autonomic Neuropathies Huntington Disease [C16.320.400.430] Huntington Disease Lafora Disease [C16.320.400.480] Lafora Disease Mental Retardation, X-Linked [C16.320.400.525] Mental Retardation, X-Linked Myotonia Congenita [C16.320.400.540] Myotonia Congenita Myotonic Dystrophy [C16.320.400.542] Myotonic Dystrophy Neuroacanthocytosis [C16.320.400.550] Neuroacanthocytosis Neurofibromatoses [C16.320.400.560] Neurofibromatoses Neuronal Ceroid-Lipofuscinoses [C16.320.400.600] Neuronal Ceroid-Lipofuscinoses Optic Atrophies, Hereditary [C16.320.400.630] Optic Atrophies, Hereditary Pantothenate Kinase-Associated Neurodegeneration [C16.320.400.650] Pantothenate Kinase-Associated Neurodegeneration Spinal Muscular Atrophies of Childhood [C16.320.400.765] Spinal Muscular Atrophies of Childhood Spinocerebellar Degenerations [C16.320.400.780] Spinocerebellar Degenerations Tourette Syndrome [C16.320.400.820] Tourette Syndrome Tuberous Sclerosis [C16.320.400.880] Tuberous Sclerosis Unverricht-Lundborg Syndrome [C16.320.400.940] Unverricht-Lundborg 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 Neoplastic Syndromes, Hereditary [C16.320.700] Neoplastic Syndromes, Hereditary Adenomatous Polyposis Coli [C16.320.700.100] Adenomatous Polyposis Coli Basal Cell Nevus Syndrome [C16.320.700.175] Basal Cell Nevus Syndrome Birt-Hogg-Dube Syndrome [C16.320.700.212] Birt-Hogg-Dube Syndrome Colorectal Neoplasms, Hereditary Nonpolyposis [C16.320.700.250] Colorectal Neoplasms, Hereditary Nonpolyposis Dysplastic Nevus Syndrome [C16.320.700.305] Dysplastic Nevus Syndrome Exostoses, Multiple Hereditary [C16.320.700.330] Exostoses, Multiple Hereditary Hamartoma Syndrome, Multiple [C16.320.700.435] Hamartoma Syndrome, Multiple Hereditary Breast and Ovarian Cancer Syndrome [C16.320.700.517] Hereditary Breast and Ovarian Cancer Syndrome Li-Fraumeni Syndrome [C16.320.700.600] Li-Fraumeni Syndrome Multiple Endocrine Neoplasia [C16.320.700.630] Multiple Endocrine Neoplasia Neurofibromatoses [C16.320.700.633] Neurofibromatoses Peutz-Jeghers Syndrome [C16.320.700.667] Peutz-Jeghers Syndrome Tuberous Sclerosis [C16.320.700.700] Tuberous Sclerosis Wilms Tumor [C16.320.700.900] Wilms Tumor

Tuberous Sclerosis - Conceito preferido

Identificador do conceito	M0022136
Nota de escopo	Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.
Termo preferido	Tuberous Sclerosis
Termo(s) alternativo(s)	Bourneville Disease Bourneville Phacomatosis Bourneville Phakomatosis Bourneville Pringle Disease Bourneville Pringle's Disease Bourneville Syndrome Bourneville's Disease Bourneville's Syndrome Bourneville-Pringle Disease Bourneville-Pringle's Disease Bourneville-Pringles Disease Cerebral Scleroses Cerebral Sclerosis Disease, Bourneville-Pringle Disease, Bourneville-Pringle's Epiloia Phacomatosis, Bourneville Phakomatosis, Bourneville Sclerosis Tuberosa Sclerosis, Cerebral Sclerosis, Tuberose Sclerosis, Tuberous Syndrome, Bourneville Syndrome, Bourneville's Tuberose Sclerosis Tuberous Sclerosis Complex

Adenoma Sebaceum - Mais específico

Identificador do conceito	M0555668
Nota de escopo	Facial ANGIOFIBROMA in tuberous sclerosis
Termo preferido	Adenoma Sebaceum