DISEASES Musculoskeletal Diseases [C05] Musculoskeletal Diseases Bone Diseases [C05.116] Bone Diseases Bone Diseases, Developmental [C05.116.099] Bone Diseases, Developmental Acro-Osteolysis [C05.116.099.052] Acro-Osteolysis Hajdu-Cheney Syndrome [C05.116.099.052.400] Hajdu-Cheney Syndrome DISEASES Musculoskeletal Diseases [C05] Musculoskeletal Diseases Bone Diseases [C05.116] Bone Diseases Bone Resorption [C05.116.264] Bone Resorption Osteolysis [C05.116.264.579] Osteolysis Acro-Osteolysis [C05.116.264.579.052] Acro-Osteolysis Hajdu-Cheney Syndrome [C05.116.264.579.052.400] Hajdu-Cheney Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Musculoskeletal Abnormalities [C16.131.621] Musculoskeletal Abnormalities Arthrogryposis [C16.131.621.077] Arthrogryposis Campomelic Dysplasia [C16.131.621.142] Campomelic Dysplasia Cervical Rib Syndrome [C16.131.621.174] Cervical Rib Syndrome Craniofacial Abnormalities [C16.131.621.207] Craniofacial Abnormalities Developmental Dysplasia of the Hip [C16.131.621.297] Developmental Dysplasia of the Hip Funnel Chest [C16.131.621.386] Funnel Chest Gastroschisis [C16.131.621.417] Gastroschisis Hajdu-Cheney Syndrome [C16.131.621.445] Hajdu-Cheney Syndrome Hip Dislocation, Congenital [C16.131.621.449] Hip Dislocation, Congenital Klippel-Feil Syndrome [C16.131.621.551] Klippel-Feil Syndrome Laryngomalacia [C16.131.621.568] Laryngomalacia Limb Deformities, Congenital [C16.131.621.585] Limb Deformities, Congenital Pectus Carinatum [C16.131.621.745] Pectus Carinatum Synostosis [C16.131.621.906] Synostosis Tracheobronchomalacia [C16.131.621.953] Tracheobronchomalacia 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 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

Hajdu-Cheney Syndrome - Conceito preferido

Identificador do conceito	M0015540
Nota de escopo	Rare, autosomal dominant syndrome characterized by ACRO-OSTEOLYSIS, generalized OSTEOPOROSIS, and skull deformations.
Termo preferido	Hajdu-Cheney Syndrome
Termo(s) alternativo(s)	Acroosteolysis with Osteoporosis and Changes in Skull and Mandible Arthrodentoosteodysplasia Arthrodentoosteodysplasias Cheney Syndrome Hajdu Cheney Syndrome Multicentric Osteolyses Multicentric Osteolysis Osteolyses, Multicentric Osteolysis, Multicentric