C28193Level 3

Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition.

**Synonyms:** - syndrome

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C101223Complete Trisomy 13 Syndrome

C101325Heterotaxy Syndrome with Polysplenia

C101326Heterotaxy Syndrome with Asplenia

C101362Complete Trisomy 18 Syndrome

C103144Perlman Syndrome

C112202Red Man Syndrome

C112208Drug Hypersensitivity Syndrome

C113170Sick Euthyroid Syndrome

C113397Sandifer's Syndrome

C113400Hepatorenal Syndrome

C113422Diethylstilbestrol Syndrome

C114471Macrophage Activation Syndrome

C114781Dialysis Disequilibrium Syndrome

C115787Vascular Access Steal Syndrome

C116333Oculo-Respiratory Syndrome

C116362Alice in Wonderland Syndrome

C116378Posterior Fossa Syndrome

C116379Cerebellar Mutism

C116380Chronic Infantile Neurological Cutaneous and Articular Syndrome

C116794Blau Syndrome

C116801Overlap Syndrome

C116916Progressive Hemifacial Atrophy

C116994Lupus Anticoagulant Disorder

C118240Periodic Fever Syndrome

C118310Insufficient Breast Milk Syndrome

C118422Compartment Syndrome

C118456Hair Tourniquet

C118508Gasping Syndrome

C118632Bardet-Biedl Syndrome

C119048Pain Amplification Syndrome

C119049Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome

C119050Autoinflammatory Syndrome

C120408Chromosome 16p11.2 Deletion Syndrome

C120409Maternal Uniparental Disomy Chromosome 14 Syndrome

C121150Pituitary Stalk Interruption Syndrome

C121656TEMPI Syndrome

C123018Renal Cysts and Diabetes Syndrome

C123021Tubulointerstitial Nephritis and Uveitis

C123225Cardiorenal Syndrome

C123227Dysfunctional Elimination Syndrome

C123230Renal Coloboma Syndrome

C123231Syndrome of Apparent Mineralocorticoid Excess

C124852Miller-Dieker Syndrome

C125712Immune Reconstitution Inflammatory Syndrome Associated with Kaposi Sarcoma

C126650Infantile Convulsions and Paroxysmal Choreoathetosis, Familial

C126692Chromosome 15q11-q13 Duplication Syndrome

C128191Lymphedema-Distichiasis Syndrome

C12971847,XXX Syndrome

C129726Autoimmune Polyglandular Syndrome

C129866Dopamine Transporter Deficiency Syndrome

C129867Growth Hormone Insensitivity Syndrome

C129869Multiple Vascular Disruption Syndrome

C129872Pitt-Hopkins Syndrome

C129875Chromosome 16p12.1 Deletion Syndrome

C13098210p13-p14 Deletion Syndrome

C130983Barakat Syndrome

C130985Cole-Carpenter Syndrome

C130986Distal 18q Deletion Syndrome

C130988IMAGe Syndrome

C130990Insulin Receptor Mutation - Associated Insulin Resistance Syndromes

C130991Kenny-Caffey Syndrome

C130994Laron Syndrome

C130995Low T3 Syndrome

C130996Maternal Diabetes and Deafness Syndrome

C130997Mauriac Syndrome

C130998Osteoporosis Pseudoglioma Syndrome

C131000Rabson-Mendenhall Syndrome

C131001Rieger Syndrome

C131002Simpson-Golabi-Behmel Syndrome

C131003Single Central Incisor Syndrome

C131006Wilms Tumor 1 Gene Syndromes

C131007Wolcott-Rallison Syndrome

C131008Hyperandrogenism, Insulin Resistance, Acanthosis Nigricans Syndrome

C131010Mullerian-Renal-Cervical Spine Syndrome

C131533Bohring-Opitz Syndrome

C131639Epstein Syndrome

C131642Fechtner Syndrome

C131646May-Hegglin Anomaly

C131650Sebastian Syndrome

C138174Vici Syndrome

C138179Acute Chest Syndrome

C142891Brugada Syndrome

C147530MIRAGE Syndrome

C148371Temtamy Syndrome

C150555Schuurs-Hoeijmakers Syndrome

C152065Telomere Syndrome

C155954Intestinal Polyposis Syndrome

C158135Infantile Liver Failure Syndrome 2

C159655CALFAN Syndrome

C160144Low Anterior Resection Syndrome

C165597Williams-Beuren Region Duplication Syndrome

C165645Retroperitoneal Pain Syndrome

C168571IDH Inhibitor Associated Differentiation Syndrome

C168588Senior-Loken Syndrome

C168599GLUT1 Deficiency Syndrome 1

C168988Sertoli Cell-Only Syndrome

C168990Bartsocas-Papas Syndrome

C169001Ring Chromosome 20 Syndrome

C170732Inherited Osteolysis Syndrome

C171148Wasting Syndrome

C171953Cerebral Hyperperfusion Syndrome

C172040Toxic Anterior Segment Syndrome

C172127Multisystem Inflammatory Syndrome in Children

C173106UV-Sensitive Syndrome 1

C173107UV-Sensitive Syndrome 3

C173110UV-Sensitive Syndrome 2

C173111XFE Progeroid Syndrome

C173131Dyschromatosis Universalis Hereditaria

C173147Crisponi/Cold-Induced Sweating Syndrome-1

C173148Crisponi/Cold-Induced Sweating Syndrome-2

C173468Cerebral Creatine Deficiency Syndrome 2

C173784Post-Intensive Care Syndrome

C174217Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome

C175705Ring Chromosome 8 Syndrome

C175706Ring Chromosome 18 Syndrome

C176819Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome

C176896Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

C177251Behr Syndrome

C177438Bone Cement Implantation Syndrome

C177544Xq25 Microduplication Syndrome

C178470Genitourinary Syndrome of Menopause

C178502Multisystem Inflammatory Syndrome in Adults

C179648Multiple Organ Dysfunction Syndrome

C179702Ring Chromosome 22 Syndrome

C179703Ring Chromosome 13 Syndrome

C179709Intermediate Epidermolysis Bullosa Simplex with Cardiomyopathy

C179868Cardiac, Facial, and Digital Anomalies with Developmental Delay

C18563549,XXXXY Syndrome

C185638Ring Chromosome 14 Syndrome

C186278Ring Chromosome 21 Syndrome

C186306Keipert Syndrome

C186307Multiorgan Venous and Lymphatic Defect Syndrome

C186789Neurodevelopmental Disorder with Brain Abnormalities, Poor Growth, and Dysmorphic Facies

C187989Meester-Loeys Syndrome

C188216Cardiospondylocarpofacial Syndrome

C188277Vertiginous Syndrome

C188397Immune Effector Cell-Associated Hemophagocytic Lymphohistiocytosis-Like Syndrome

C192098Microcephaly-Capillary Malformation Syndrome

C192635Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome

C197816Congenital Iodine Deficiency Syndrome

C197840Anterior Cerebral Artery Syndrome

C197841Anterior Cord Syndrome

C197851Brain Stem Stroke Syndrome

C197855Carotid Artery Syndrome

C197856Celiac Artery Compression Syndrome

C197859Central Pain Syndrome

C197861Cerebellar Stroke Syndrome

C197912Hepatopulmonary Syndrome

C197934Middle Cerebral Artery Syndrome

C197947Posterior Cerebral Artery Syndrome

C197948Posterior Cord Syndrome

C197983Vertebrobasilar Artery Syndrome

C198575Cerebral Creatine Deficiency Syndrome 3

C198610VISS Syndrome

C200422SAMD9L-Related Ataxia Pancytopenia Syndrome

C200742AESOP Syndrome

C202012Isaacs Syndrome

C202017Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion

C202046Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

C205640Gordon Holmes Syndrome

C205644Nicolaides-Baraitser Syndrome

C205647Zimmermann-Laband Syndrome 1

C206077Aicardi-Goutieres Syndrome

C206102Perrault Syndrome 5

C206523Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia and Hydranencephaly

C206524Ohdo Syndrome, SBBYS Variant

C206525Salt and Pepper Developmental Regression Syndrome

C206708Wyburn-Mason Syndrome

C212888Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

C2128936q27 Deletion Syndrome

C214870Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome

C215054Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities

C215055Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy

C219908Distal Duplication 20q Syndrome

C220020Lenz-Majewski Hyperostotic Dwarfism

C220117Recurrent Corneal Erosion Syndrome

C220132Rud Syndrome

C220143Senter Syndrome

C220584Schimmelpenning-Feuerstein-Mims Syndrome

C222353CLIFAHDD Syndrome

C222354Ischiocoxopodopatellar Syndrome

C222356PHACE Syndrome

C26862Polycystic Ovary Syndrome

C27038Idiopathic Hypereosinophilic Syndrome

C27168Obstructive Sleep Apnea Syndrome

C27169Central Sleep Apnea Syndrome

C27177Palmar-Plantar Erythrodysthesia

C27560Respiratory Distress Syndrome

C27743Somnolence Syndrome

C2994Dumping Syndrome

C3034Fanconi Syndrome

C3214Malabsorption Syndrome

C3353Acute Respiratory Distress Syndrome

C34411Cervicocranial Syndrome

C34413Basilar Artery Syndrome

C34416Behcet Syndrome

C34434Bonnevie-Ullrich Syndrome

C34446Capgras Syndrome

C34450Carpal Tunnel Syndrome

C34481Eosinophilic Granulomatosis with Polyangiitis

C34518Cri du Chat Syndrome

C34553Dry Eye Syndrome

C34568Ehlers-Danlos Syndrome

C34741Dubin-Johnson Syndrome

C34814Menopausal Syndrome

C34842Alport Syndrome

C34845Nephrotic Syndrome

C34975Reiter Syndrome

C34983Reye Syndrome

C35008Schwartz-Jampel Syndrome

C35044Subclavian Steal Syndrome

C35063Teething Syndrome

C35066Temporomandibular Joint Dysfunction Syndrome

C35078Tourette Syndrome

C35139Alagille Syndrome

C35255Greig Syndrome

C35257Alper Syndrome

C35300Sheehan Syndrome

C35321Coffin-Siris Syndrome

C35436Cauda Equina Syndrome

C35498Toxic Shock Syndrome

C35528Wolf-Hirschhorn Syndrome

C35699Diffuse Infiltrative Lymphocytosis Syndrome

C35764Wernicke-Korsakoff Syndrome

C35808Abstinence Syndrome

C35810Acroparesthesia Syndrome

C35811Adherence Syndrome

C40435Potter Syndrome

C43245Pyramidal Tract Dysfunction

C4486Blue Rubber Bleb Nevus Syndrome

C50532Dialyzer First Use Syndrome

C50763Sunset Syndrome

C50784Twiddler's Syndrome

C50794Uveitis Glaucoma and Hyphema Syndrome

C54102Parinaud Syndrome

C54705Neoplastic Syndrome

C60825Lipase Hypersecretion Syndrome

C61283Antiphospholipid Syndrome

C62545Burning Mouth Syndrome

C62578Capillary Leak Syndrome

C70646CREST Syndrome

C70647Sicca Syndrome

C78251Cytokine Release Syndrome

C78597APL Differentiation Syndrome

C78598Reversible Posterior Leukoencephalopathy Syndrome

C79484Stevens-Johnson Syndrome

C79765Stokes-Adams Syndrome

C80303POEMS Syndrome

C84390Eisenmenger Syndrome

C84397Alpha-1 Antitrypsin Deficiency

C84442Metabolic Syndrome

C84453Progressive Familial Intrahepatic Cholestasis

C84501Restless Leg Syndrome

C84683Ectodermal Dysplasia

C85018Polymyalgia Rheumatica

C85020Postural Orthostatic Tachycardia Syndrome

C85183Tarsal Tunnel Syndrome

C85239Zellweger Syndrome

C87497Fibromyalgia

C89799XXXY Syndrome

C89801XXYY Syndrome

C89802Penta X Syndrome

C94828Overgrowth Syndrome

C94829Neuroleptic Malignant Syndrome

C94832Systemic Inflammatory Response Syndrome

C98609TORCH Syndrome

C98889Congenital Central Hypoventilation

C98894Hypoplastic Left Heart Syndrome

C98956Inspissated Bile Syndrome

C98980Meconium Plug Syndrome

C98983Melnick-Fraser Syndrome

C98993Monosomy 13q Syndrome

C99008Pena-Shokeir Syndrome

C99053Hypoplastic Right Heart Syndrome

C99054Sacral Agenesis

C99059Short Bowel Syndrome

C99080Tethered Spinal Cord Syndrome

C99085Townes-Brocks Syndrome

C99267Congenital Malformation Syndrome

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