DISEASES Musculoskeletal Diseases [C05] Musculoskeletal Diseases Bone Diseases [C05.116] Bone Diseases Bone Diseases, Developmental [C05.116.099] Bone Diseases, Developmental Osteochondrodysplasias [C05.116.099.708] Osteochondrodysplasias Achondroplasia [C05.116.099.708.017] Achondroplasia Acquired Hyperostosis Syndrome [C05.116.099.708.025] Acquired Hyperostosis Syndrome Camurati-Engelmann Syndrome [C05.116.099.708.180] Camurati-Engelmann Syndrome Chondrodysplasia Punctata [C05.116.099.708.195] Chondrodysplasia Punctata Cleidocranial Dysplasia [C05.116.099.708.207] Cleidocranial Dysplasia Ellis-Van Creveld Syndrome [C05.116.099.708.327] Ellis-Van Creveld Syndrome Enchondromatosis [C05.116.099.708.338] Enchondromatosis Fibrous Dysplasia of Bone [C05.116.099.708.375] Fibrous Dysplasia of Bone Hyperostosis, Cortical, Congenital [C05.116.099.708.479] Hyperostosis, Cortical, Congenital Hyperostosis Frontalis Interna [C05.116.099.708.486] Hyperostosis Frontalis Interna Kashin-Beck Disease [C05.116.099.708.534] Kashin-Beck Disease Langer-Giedion Syndrome [C05.116.099.708.582] Langer-Giedion Syndrome Osteochondroma [C05.116.099.708.670] Osteochondroma Osteogenesis Imperfecta [C05.116.099.708.685] Osteogenesis Imperfecta Osteosclerosis [C05.116.099.708.702] Osteosclerosis Pycnodysostosis [C05.116.099.708.779] Pycnodysostosis Short Rib-Polydactyly Syndrome [C05.116.099.708.857] Short Rib-Polydactyly Syndrome Slipped Capital Femoral Epiphyses [C05.116.099.708.928] Slipped Capital Femoral Epiphyses DISEASES Musculoskeletal Diseases [C05] Musculoskeletal Diseases Musculoskeletal Abnormalities [C05.660] Musculoskeletal Abnormalities Limb Deformities, Congenital [C05.660.585] Limb Deformities, Congenital Polydactyly [C05.660.585.600] Polydactyly Pallister-Hall Syndrome [C05.660.585.600.374] Pallister-Hall Syndrome Short Rib-Polydactyly Syndrome [C05.660.585.600.750] Short Rib-Polydactyly Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities [C16.131] Congenital Abnormalities Abnormalities, Multiple [C16.131.077] Abnormalities, Multiple 22q11 Deletion Syndrome [C16.131.077.019] 22q11 Deletion Syndrome Alagille Syndrome [C16.131.077.065] Alagille Syndrome Angelman Syndrome [C16.131.077.095] Angelman Syndrome Barth Syndrome [C16.131.077.121] Barth Syndrome Basal Cell Nevus Syndrome [C16.131.077.130] Basal Cell Nevus Syndrome Beckwith-Wiedemann Syndrome [C16.131.077.133] Beckwith-Wiedemann Syndrome Bloom Syndrome [C16.131.077.137] Bloom Syndrome Branchio-Oto-Renal Syndrome [C16.131.077.208] Branchio-Oto-Renal Syndrome Carney Complex [C16.131.077.229] Carney Complex Ciliopathies [C16.131.077.245] Ciliopathies Cockayne Syndrome [C16.131.077.250] Cockayne Syndrome Costello Syndrome [C16.131.077.256] Costello Syndrome Cri-du-Chat Syndrome [C16.131.077.262] Cri-du-Chat Syndrome De Lange Syndrome [C16.131.077.272] De Lange Syndrome Deaf-Blind Disorders [C16.131.077.299] Deaf-Blind Disorders Donohue Syndrome [C16.131.077.313] Donohue Syndrome Down Syndrome [C16.131.077.327] Down Syndrome Ectodermal Dysplasia [C16.131.077.350] Ectodermal Dysplasia Fraser Syndrome [C16.131.077.371] Fraser Syndrome Gardner Syndrome [C16.131.077.393] Gardner Syndrome Heterotaxy Syndrome [C16.131.077.401] Heterotaxy Syndrome Holoprosencephaly [C16.131.077.410] Holoprosencephaly Incontinentia Pigmenti [C16.131.077.445] Incontinentia Pigmenti Isolated Noncompaction of the Ventricular Myocardium [C16.131.077.477] Isolated Noncompaction of the Ventricular Myocardium Laurence-Moon Syndrome [C16.131.077.509] Laurence-Moon Syndrome LEOPARD Syndrome [C16.131.077.525] LEOPARD Syndrome Loeys-Dietz Syndrome [C16.131.077.537] Loeys-Dietz Syndrome Marfan Syndrome [C16.131.077.550] Marfan Syndrome Mobius Syndrome [C16.131.077.578] Mobius Syndrome Monilethrix [C16.131.077.592] Monilethrix Nail-Patella Syndrome [C16.131.077.606] Nail-Patella Syndrome Netherton Syndrome [C16.131.077.619] Netherton Syndrome Nevus, Sebaceous of Jadassohn [C16.131.077.633] Nevus, Sebaceous of Jadassohn Oculocerebrorenal Syndrome [C16.131.077.662] Oculocerebrorenal Syndrome Orofaciodigital Syndromes [C16.131.077.676] Orofaciodigital Syndromes Pallister-Hall Syndrome [C16.131.077.690] Pallister-Hall Syndrome Pentalogy of Cantrell [C16.131.077.696] Pentalogy of Cantrell POEMS Syndrome [C16.131.077.703] POEMS Syndrome Polycystic Kidney Diseases [C16.131.077.717] Polycystic Kidney Diseases Prader-Willi Syndrome [C16.131.077.730] Prader-Willi Syndrome Prolidase Deficiency [C16.131.077.735] Prolidase Deficiency Proteus Syndrome [C16.131.077.740] Proteus Syndrome Prune Belly Syndrome [C16.131.077.745] Prune Belly Syndrome Rubella Syndrome, Congenital [C16.131.077.790] Rubella Syndrome, Congenital Rubinstein-Taybi Syndrome [C16.131.077.804] Rubinstein-Taybi Syndrome Short Rib-Polydactyly Syndrome [C16.131.077.850] Short Rib-Polydactyly Syndrome Silver-Russell Syndrome [C16.131.077.855] Silver-Russell Syndrome Smith-Lemli-Opitz Syndrome [C16.131.077.860] Smith-Lemli-Opitz Syndrome Smith-Magenis Syndrome [C16.131.077.879] Smith-Magenis Syndrome Sotos Syndrome [C16.131.077.889] Sotos Syndrome Trichothiodystrophy Syndromes [C16.131.077.899] Trichothiodystrophy Syndromes Trisomy 13 Syndrome [C16.131.077.919] Trisomy 13 Syndrome Trisomy 18 Syndrome [C16.131.077.929] Trisomy 18 Syndrome Waardenburg Syndrome [C16.131.077.938] Waardenburg Syndrome Weill-Marchesani Syndrome [C16.131.077.941] Weill-Marchesani Syndrome Wolf-Hirschhorn Syndrome [C16.131.077.944] Wolf-Hirschhorn Syndrome Zellweger Syndrome [C16.131.077.970] Zellweger 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 Limb Deformities, Congenital [C16.131.621.585] Limb Deformities, Congenital Polydactyly [C16.131.621.585.600] Polydactyly Pallister-Hall Syndrome [C16.131.621.585.600.374] Pallister-Hall Syndrome Short Rib-Polydactyly Syndrome [C16.131.621.585.600.750] Short Rib-Polydactyly Syndrome

Short Rib-Polydactyly Syndrome - Conceito preferido

Identificador do conceito	M0019797
Nota de escopo	A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features are narrow thorax, short ribs, scapular and pelvic dysplasia, and polydactyly.
Termo preferido	Short Rib-Polydactyly Syndrome
Termo(s) alternativo(s)	Short Rib Polydactyly Syndrome Short Rib-Polydactyly Syndromes

Saldino-Noonan Syndrome - Mais específico

Identificador do conceito	M0019796
Termo preferido	Saldino-Noonan Syndrome
Termo(s) alternativo(s)	Asphyxiating Thoracic Dystrophy 3 Polydactyly With Neonatal Chondrodystrophy, Type I Polydactyly with Neonatal Chondrodystrophy, Type 1 Saldino Noonan Syndrome Short Rib Polydactyly Syndrome Type 1 Short Rib Polydactyly Syndrome, Saldino Noonan Type Short Rib Polydactyly Syndrome, Type I Short Rib-Polydactyly Syndrome Type 1 Short Rib-Polydactyly Syndrome, Saldino-Noonan Type Short Rib-Polydactyly Syndrome, Type I

Majewski Syndrome - Mais específico

Identificador do conceito	M0019795
Termo preferido	Majewski Syndrome
Termo(s) alternativo(s)	Polydactyly With Neonatal Chondrodystrophy, Type II Polydactyly with Neonatal Chondrodystrophy, Type 2 Short Rib Polydactyly Syndrome, Majewski Type Short Rib Polydactyly Syndrome, Type II Short Rib-Polydactyly Syndrome, Majewski Type Short Rib-Polydactyly Syndrome, Type II