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 22q11 Deletion Syndrome [C16.131.260.019] 22q11 Deletion Syndrome Angelman Syndrome [C16.131.260.040] Angelman Syndrome Beckwith-Wiedemann Syndrome [C16.131.260.080] Beckwith-Wiedemann Syndrome Branchio-Oto-Renal Syndrome [C16.131.260.090] Branchio-Oto-Renal Syndrome Cri-du-Chat Syndrome [C16.131.260.190] Cri-du-Chat Syndrome De Lange Syndrome [C16.131.260.210] De Lange Syndrome Down Syndrome [C16.131.260.260] Down Syndrome Holoprosencephaly [C16.131.260.380] Holoprosencephaly Jacobsen Distal 11q Deletion Syndrome [C16.131.260.440] Jacobsen Distal 11q Deletion Syndrome Prader-Willi Syndrome [C16.131.260.700] Prader-Willi Syndrome Rubinstein-Taybi Syndrome [C16.131.260.790] Rubinstein-Taybi Syndrome Sex Chromosome Disorders [C16.131.260.830] Sex Chromosome Disorders Silver-Russell Syndrome [C16.131.260.870] Silver-Russell Syndrome Smith-Magenis Syndrome [C16.131.260.887] Smith-Magenis Syndrome Sotos Syndrome [C16.131.260.905] Sotos Syndrome Trisomy 13 Syndrome [C16.131.260.923] Trisomy 13 Syndrome Trisomy 18 Syndrome [C16.131.260.932] Trisomy 18 Syndrome WAGR Syndrome [C16.131.260.940] WAGR Syndrome Williams Syndrome [C16.131.260.970] Williams Syndrome Wolf-Hirschhorn Syndrome [C16.131.260.985] Wolf-Hirschhorn Syndrome 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 Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Adrenal Hyperplasia, Congenital [C16.320.033] Adrenal Hyperplasia, Congenital Alagille Syndrome [C16.320.051] Alagille Syndrome alpha 1-Antitrypsin Deficiency [C16.320.060] alpha 1-Antitrypsin Deficiency Anemia, Hemolytic, Congenital [C16.320.070] Anemia, Hemolytic, Congenital Anemia, Hypoplastic, Congenital [C16.320.077] Anemia, Hypoplastic, Congenital Ataxia Telangiectasia [C16.320.080] Ataxia Telangiectasia Autoimmune Lymphoproliferative Syndrome [C16.320.089] Autoimmune Lymphoproliferative Syndrome Blood Coagulation Disorders, Inherited [C16.320.099] Blood Coagulation Disorders, Inherited Brugada Syndrome [C16.320.100] Brugada Syndrome CADASIL [C16.320.129] CADASIL Camurati-Engelmann Syndrome [C16.320.144] Camurati-Engelmann Syndrome Cardiomyopathy, Hypertrophic, Familial [C16.320.160] Cardiomyopathy, Hypertrophic, Familial CHARGE Syndrome [C16.320.165] CHARGE Syndrome Cherubism [C16.320.170] Cherubism Chromosome Disorders [C16.320.180] Chromosome Disorders 22q11 Deletion Syndrome [C16.320.180.019] 22q11 Deletion Syndrome Angelman Syndrome [C16.320.180.040] Angelman Syndrome Beckwith-Wiedemann Syndrome [C16.320.180.080] Beckwith-Wiedemann Syndrome Branchio-Oto-Renal Syndrome [C16.320.180.090] Branchio-Oto-Renal Syndrome Cri-du-Chat Syndrome [C16.320.180.190] Cri-du-Chat Syndrome De Lange Syndrome [C16.320.180.210] De Lange Syndrome Down Syndrome [C16.320.180.260] Down Syndrome Holoprosencephaly [C16.320.180.380] Holoprosencephaly Jacobsen Distal 11q Deletion Syndrome [C16.320.180.440] Jacobsen Distal 11q Deletion Syndrome Prader-Willi Syndrome [C16.320.180.700] Prader-Willi Syndrome Rubinstein-Taybi Syndrome [C16.320.180.790] Rubinstein-Taybi Syndrome Sex Chromosome Disorders [C16.320.180.830] Sex Chromosome Disorders Silver-Russell Syndrome [C16.320.180.870] Silver-Russell Syndrome Smith-Magenis Syndrome [C16.320.180.887] Smith-Magenis Syndrome Sotos Syndrome [C16.320.180.905] Sotos Syndrome Trisomy 13 Syndrome [C16.320.180.923] Trisomy 13 Syndrome Trisomy 18 Syndrome [C16.320.180.932] Trisomy 18 Syndrome WAGR Syndrome [C16.320.180.940] WAGR Syndrome Williams Syndrome [C16.320.180.970] Williams Syndrome Wolf-Hirschhorn Syndrome [C16.320.180.985] Wolf-Hirschhorn Syndrome Ciliopathies [C16.320.184] Ciliopathies Costello Syndrome [C16.320.188] Costello Syndrome Cystic Fibrosis [C16.320.190] Cystic Fibrosis Donohue Syndrome [C16.320.215] Donohue Syndrome Dwarfism [C16.320.240] Dwarfism Eye Diseases, Hereditary [C16.320.290] Eye Diseases, Hereditary Familial Multiple Lipomatosis [C16.320.298] Familial Multiple Lipomatosis Frasier Syndrome [C16.320.306] Frasier Syndrome GATA2 Deficiency [C16.320.314] GATA2 Deficiency Genetic Diseases, X-Linked [C16.320.322] Genetic Diseases, X-Linked Genetic Diseases, Y-Linked [C16.320.338] Genetic Diseases, Y-Linked Hajdu-Cheney Syndrome [C16.320.355] Hajdu-Cheney Syndrome Hemoglobinopathies [C16.320.365] Hemoglobinopathies Hereditary Autoinflammatory Diseases [C16.320.382] Hereditary Autoinflammatory Diseases Heredodegenerative Disorders, Nervous System [C16.320.400] Heredodegenerative Disorders, Nervous System Hyper-IgM Immunodeficiency Syndrome [C16.320.413] Hyper-IgM Immunodeficiency Syndrome Hyperthyroxinemia, Familial Dysalbuminemic [C16.320.427] Hyperthyroxinemia, Familial Dysalbuminemic Imprinting Disorders [C16.320.447] Imprinting Disorders Kallmann Syndrome [C16.320.467] Kallmann Syndrome Kartagener Syndrome [C16.320.480] Kartagener Syndrome Laminopathies [C16.320.488] Laminopathies Lennox Gastaut Syndrome [C16.320.495] Lennox Gastaut Syndrome Loeys-Dietz Syndrome [C16.320.510] Loeys-Dietz Syndrome Marfan Syndrome [C16.320.540] Marfan Syndrome Metabolism, Inborn Errors [C16.320.565] Metabolism, Inborn Errors Muscular Dystrophies [C16.320.577] Muscular Dystrophies Myasthenic Syndromes, Congenital [C16.320.590] Myasthenic Syndromes, Congenital Nail-Patella Syndrome [C16.320.600] Nail-Patella Syndrome Neoplastic Syndromes, Hereditary [C16.320.700] Neoplastic Syndromes, Hereditary Oculocerebrorenal Syndrome [C16.320.709] Oculocerebrorenal Syndrome Orofaciodigital Syndromes [C16.320.714] Orofaciodigital Syndromes Osteoarthropathy, Primary Hypertrophic [C16.320.718] Osteoarthropathy, Primary Hypertrophic Osteochondrodysplasias [C16.320.728] Osteochondrodysplasias Osteogenesis Imperfecta [C16.320.737] Osteogenesis Imperfecta Pain Insensitivity, Congenital [C16.320.775] Pain Insensitivity, Congenital Pelger-Huet Anomaly [C16.320.784] Pelger-Huet Anomaly Primary Immunodeficiency Diseases [C16.320.798] Primary Immunodeficiency Diseases Pycnodysostosis [C16.320.812] Pycnodysostosis Renal Tubular Transport, Inborn Errors [C16.320.831] Renal Tubular Transport, Inborn Errors Skin Diseases, Genetic [C16.320.850] Skin Diseases, Genetic Werner Syndrome [C16.320.925] Werner Syndrome Yellow Nail Syndrome [C16.320.962] Yellow Nail Syndrome

Chromosome Disorders - Preferred

Concept UI	M0373367
Scope note	Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
Preferred term	Chromosome Disorders
Entry term(s)	Chromosomal Disorder Chromosomal Disorders Chromosome Abnormality Disorder Chromosome Abnormality Disorders Chromosome Disorder Disorder, Chromosomal Disorder, Chromosome Disorder, Chromosome Abnormality Disorders, Chromosomal Disorders, Chromosome

Autosomal Chromosome Disorders - Narrower

Concept UI	M0373510
Preferred term	Autosomal Chromosome Disorders
Entry term(s)	Autosomal Chromosome Disorder Chromosome Disorder, Autosomal Chromosome Disorders, Autosomal