DISEASES Nervous System Diseases [C10] Nervous System Diseases Chronobiology Disorders [C10.281] Chronobiology Disorders Jet Lag Syndrome [C10.281.440] Jet Lag Syndrome Sleep Disorders, Circadian Rhythm [C10.281.800] Sleep Disorders, Circadian Rhythm Smith-Magenis Syndrome [C10.281.900] Smith-Magenis 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 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 DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn 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

Smith-Magenis Syndrome - Conceito preferido

Identificador do conceito	M0542890
Nota de escopo	Complex neurobehavioral disorder characterized by distinctive facial features (FACIES), developmental delay and INTELLECTUAL DISABILITY. Behavioral phenotypes include sleep disturbance, maladaptive, self-injurious and attention-seeking behaviors. The sleep disturbance is linked to an abnormal circadian secretion pattern of MELATONIN. The syndrome is associated with de novo deletion or mutation and HAPLOINSUFFICIENCY of the retinoic acid-induced 1 protein on chromosome 17p11.2.
Termo preferido	Smith-Magenis Syndrome
Termo(s) alternativo(s)	Chromosome 17p11.2 Deletion Syndrome Smith Magenis Syndrome Syndrome, Smith-Magenis

17p11.2 Monosomy - Relacionado, mas não mais amplo ou mais específico

Identificador do conceito	M0584140
Termo preferido	17p11.2 Monosomy