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Syndromes : rapid recognition and perioperative implications

Author: Bruno Bissonnette
Publisher: New York : McGraw-Hill, ©2006.
Edition/Format:   eBook : Document : EnglishView all editions and formats
Summary:
Offers an A-Z encyclopedic presentation of more than 2000 syndromes. Each entry gives an overview of the syndrome, its major characteristics, genetic inheritance, pathophysiology, diagnosis, and clinical features. The overview provides access to the information needed to provide care for children and adults affected with pre-existing medical conditions.
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Genre/Form: Handbooks
Additional Physical Format: Print version:
Syndromes.
New York : McGraw-Hill, ©2006
(DLC) 2005047945
(OCoLC)59003623
Material Type: Document, Internet resource
Document Type: Internet Resource, Computer File
All Authors / Contributors: Bruno Bissonnette
OCLC Number: 607731405
Reproduction Notes: Electronic reproduction. [S.l.] : HathiTrust Digital Library, 2010. MiAaHDL
Description: 1 online resource (xv, 953 pages, [4] pages of plates) : illustrations (some color)
Details: Master and use copy. Digital master created according to Benchmark for Faithful Digital Reproductions of Monographs and Serials, Version 1. Digital Library Federation, December 2002.
Contents: Blue diaper syndrome --
Blue rubber bleb nevus syndrome --
Book syndrome --
Boomerang dysplasia --
Börjeson-forssman-lehmann syndrome --
Borrone dermato-cardio-skeletal syndrome --
Boucher-neuhäuser syndrome --
Bouveret syndrome --
Bowen syndrome --
Bowen-conradi syndrome --
Brachmann-de lange syndrome --
Brachydactyly-ectrodactyly syndrome with fibular aplasia or hypoplasia --
Brachymorphism-onychodysplasia-dysphalangism syndrome --
Branchial myoclonus with spastic paraparesis and cerebellar ataxia syndrome --
Branchio-oculo-facial syndrome --
Branchio-skeleto-genital syndrome --
Brauer syndrome --
Brittle hair and mental deficit syndrome --
Bronze baby syndrome --
Brown-vialetto-van laere syndrome --
Brugada syndrome --
Bruyn-scheltens syndrome --
Budd-chiari syndrome --
Burton syndrome --
Buschke-ollendorff syndrome --
Wagr syndrome --
Brunner winter syndrome --
C syndrome --
Cacchi-ricci disease --
Cadasil --
Cahmr syndrome --
Calderon gonzalez-cantu syndrome --
Camfak syndrome --
Camptodactyly syndrome, guadalajara types i and ii --
Camurati-engelmann syndrome --
Canavan syndrome --
Cantalamessa-baldiniambrosi syndrome --
Cantu syndrome --
Capos syndrome --
Carbon baby syndrome --
Cardiogenital syndrome --
Carey-fineman-ziter syndrome --
Carmi syndrome --
Carnevale-canun-mendoza syndrome --
Carnevale-hernandez-castillotorres syndrome --
Carnevale-krajewska-fischetto syndrome --
Carney complex --
Carnitine deficiency --
Carnitine palmitoyltransferase deficiency --
Carnosinemia --
Caroli disease and caroli syndrome --
Carpal tunnel syndrome --
Cartilage-hair hypoplasia syndrome --
Cartwright-nelson-fryns syndrome --
Castleman disease --
Castro-gago-pombonovo syndrome --
Cat cry syndrome --
Cat eye syndrome --
Cataract-alopecia-sclerodactyly syndrome --
Cataract-microcornea-syndrome --
Catlin marks --
Cavernous sinus syndrome --
Cayler syndrome --
Ccge syndrome --
Cecato-de lima-pinheiro syndrome --
Celiac disease --
Cenani syndactylism --
Cennamo gangemi magli syndrome --
Central core disease --
Cephaloskeletal dysplasia --
Cerebellar hypoplasia --
Cerebral aneurysm-cirrhosis syndrome --
Cerebro-oculo-skeleto-renal syndrome --
Cerebro-reno-digital syndrome --
Cerebrocortical degeneration of infancy --
Cerebrocostomandibular syndrome --
Ceroid storage disease --
Ceruloplasmin deficiency --
Cervico-oculo-acoustic syndrome --
Chands --
Charcot-marie-tooth disease --
Charge syndrome --
Charlie m syndrome --
Chauffard syndrome --
Chediak-higashi syndrome --
Chemke-oliver-mallek syndrome --
Cherubism --
Child syndrome --
Cholinesterase deficiency --
Chondrodysplasia giant cell type --
Chondrodysplasia grebe type --
Chondrodysplasia-pseudohermaphroditism syndrome --
Chondrodysplasia punctata --
Chorioretinal dysplasia-microcephaly-mental retardation syndrome --
Choroideremia --
Christ-siemens-touraine syndrome --
Chronic fatigue syndrome --
Chronic granulomatous disease --
Chudley mental retardation syndrome --
Chudley-rozdilsky-houston syndrome --
Citrullinemia --
Cleft hand and absent tibia syndrome --
Cleft-limb-heart malformation syndrome --
Cleft palate lateral synechiae syndrome --
Cleidocranial dysplasia --
Cleidorhizomelic syndrome --
Cloverleaf skull --
Clubfoot --
Coach syndrome --
Coats disease --
Cockayne syndrome --
Codas syndrome --
Coffin-lowry syndrome --
Coffin-siris syndrome --
Cohen syndrome --
Cold agglutinin syndrome --
Cold hypersensitivity syndrome --
Cole-carpenter syndrome --
Coleman-randall syndrome --
Collins-dennis-clarke-pope syndrome --
Collodion baby --
Colpocephaly --
Complete androgen insensitivity syndrome --
Complex disease/deficiency (overview) --
Complex i deficiency --
Complex ii deficiency --
Complex iii deficiency --
Complex iv deficiency --
Complex v deficiency --
Cone-rod retinal dystrophies --
Congenital afibrinogenemia --
Congenital atresia of larynx --
Congenital disorders of glycosylation --
Congenital dyserythropoietic anemias --
Congenital factor vii deficiency --
Congenital hypothyroidism --
Congenital muscular dystrophy: an overview --
Congenital myopathy with fiber-type disproportion --
Congenital pancreatic agenesis --
Congenital pseudarthrosis of clavicle --
Congenital pulmonary hypoplasia --
Congenital shortness of the costocoracoid ligament --
Congenital stridor --
Congenital varicella syndrome --
Conn syndrome --
Cooks syndrome --
Corneal cerebellar syndrome --
Corneodermatoosseous syndrome --
Corpus callosum agenesis --
Costello syndrome --
Cousin-walbaum-cegarra syndrome --
Cowchock syndrome --
Cowden syndrome --
Cramer-niederdellmann syndrome --
Crane-heise syndrome --
Craniodiaphyseal dysplasia --
Craniofrontonasal dysplasia --
Craniolacunia --
Craniomicromelic syndrome --
Craniosynostosis --
Crest syndrome --
Creutzfeldt-jakob disease --
Crigler-najjar syndrome --
Cumming syndrome --
Curatolo-cilio syndrome --
Cutis laxa --
Cutis marmorata telangiectatica congenita --
Cystic hygroma --
Cystinosis. D-2-hydroxyglutaric aciduria --
Da silva syndrome --
Danbolt-closs syndrome --
Dandy-walker malformation --
Darier-white disease --
De die smulders vles fryns syndrome --
De morsier syndrome --
De sanctis cacchione syndrome --
De toni debré fanconi syndrome --
Deafness-optic atrophy syndrome --
Degos syndrome --
Dejerine-sottas syndrome --
Delleman oorthuys syndrome --
Dent disease --
Denys-drash syndrome --
Dermatomyositis and polymyositis --
Desbuquois syndrome --
Devriendt legius fryns syndrome --
D-glyceric acidemia --
Diaminopentanuria --
Diastematomyelia --
Diastrophic dysplasia --
Diencephalic syndrome --
Diferrante syndrome --
Digeorge syndrome --
Digitotalar dysmorphism --
Dihydropyrimidinase deficiency --
Dihydropyrimidine dehydrogenase deficiency --
Dionisi vici sabetta gambarara syndrome --
Disaccharide intolerance type i --
Disaccharide intolerance type ii --
Donnai-barrow syndrome --
Donohue syndrome --
Door syndrome --
Drachtman weinblatt sitarz syndrome --
Du pan syndrome --
Duane retraction syndrome --
Dubin-johnson syndrome --
Dubowitz syndrome --
Duchenne muscular dystrophy --
Duker weiss siber syndrome --
Dyggve-melchior-clausen syndrome --
Dyke-davidoff-masson syndrome --
Dyskeratosis congenita --
Dysosteosclerosis --
Dysplasia epiphysealis hemimelica --
Eastman-bixler syndrome --
Ebstein syndrome --
Ectodermal dysplasia --
Ectodermal dysplasia, ectrodactyly, and macular dystrophy (eem) syndrome --
Ectrodactyly --
Ectrodactyly, ectodermal dysplasia, and clefting (eec) syndrome --
Ehlers-danlos syndrome (eds): an overview --
Ehlers-danlos syndrome (eds) --
Eisenmenger reaction --
Elejalde syndrome --
Ellis-van creveld syndrome --
Emery-dreifuss muscular dystrophy (edmd) --
Encephalocele --
Eosinophilic endomyocardial disease --
Epidermal nevus syndrome --
Epidermolysis bullosa --
Epstein syndrome --
Erb and klumpke palsy --
Erdheim-chester disease (ecd) --
Eronen syndrome --
Erythema multiforme (em) --
Erythromelalgia --
Erythropoietic protoporphyria --
Essential thrombocythemia --
F syndrome --
Fabry disease --
Facio-oculo-acoustico-renal (foar) syndrome --
Facio-thoraco-genital syndrome --
Fahr syndrome --
Familial amyotrophic dystonic paraplegia --
Familial atrial myxoma --
Familial benign copper deficiency --
Familial generalized anhidrosis --
Familial hyperaldosteronism --
Familial hyperlysinemia --
Familial hypogonadotrophic eunuchoidism --
Familial inverted choreoathetosis --
Familial juvenile nephronophthisis (nph) --
Familial mediterranean fever --
Familial nonchromaffin paragangliomas --
Familial osteodysplasia --
Familial porencephaly --
Familial progressive scleroderma --
Fanconi anemia --
Fanconi-bickel syndrome (fbs) --
Farber uzman syndrome --
Faulk epstein jones syndrome --
Feigenbaum bergeron richardson syndrome --
Feingold syndrome --
Felty syndrome --
Femoral-facial syndrome --
Femur-fibula-ulna syndrome --
Fenton wilkinson toselano syndrome --
Fetal alcohol syndrome (fas) --
Fetal aminopterin syndrome --
Fetal cocaine syndrome --
Fg syndrome --
Fibrin stabilizing factor (factor xiii) deficiency --
Fibrocystic pulmonary dysplasia --
Fibrodysplasia ossificans progressiva --
Fibromatoses --
Floating-harbor syndrome (fhs) --
Foix alajouanine syndrome --
Folic acid deficiency --
Forsius-ericksson syndrome --
Fragile x syndrome --
Fraser syndrome --
Freeman-sheldon syndrome (fss) --
Friedreich ataxia (frda) --
Fronto-metaphyseal dysplasia of gorlin (fmd) --
Frydman cohen karmon syndrome --
Fryns syndrome --
Fucosidosis --
Galactosemia --
Galactosialidosis --
Gangliosidosis (gm1) type i --
Gangliosidosis (gm2) type ii --
Garcia-lurie syndrome --
Gaucher disease --
Geleophysic dysplasia --
Generalized arterial calcification of infancy --
Genoa syndrome --
Geroderma osteodysplastica syndrome --
Gerstmann-sträussler disease. Gianotti-crosti syndrome --
Gilbert syndrome --
Gilles de la tourette syndrome --
Gillespie syndrome --
Gitelman syndrome --
Glanzmann thrombasthenia --
Glucose-6-phosphate dehydrogenase deficiency --
Glucose phosphate isomerase deficiency --
Glutaric acidemia type i (ga-i) --
Glutaric acidemia type ii (ga-ii) --
Glycogen storage diseases (gsd): an overview --
Glycogen storage disease type 0 --
Glycogen storage disease type i (gsd i) --
Glycogen storage disease type ii --
Glycogen storage disease type iii (gsd iii) --
Glycogen storage disease type iv (gsd iv) --
Glycogen storage disease type v (gsd v) --
Glycogen storage disease type vi (gsd vi) --
Glycogen storage disease type vii (gsd vii) --
Glycogen storage disease type viii (gsd viii) --
Goldenhar syndrome --
Goldston syndrome --
Goltz syndrome --
Goodman camptodactyly --
Goodpasture syndrome --
Gordon-holmes syndrome --
Gordon hyperkalemia-hypertension syndrome --
Gorham-stout disease --
Gorlin-chaudry-moss syndrome --
Gorlin-goltz syndrome --
Gottron syndrome --
Gradenigo syndrome --
Graham-boyle-troxell syndrome --
Grand-kaine-fulling syndrome --
Granddad syndrome --
Grant syndrome --
Graves disease --
Greig cephalopolysyndactyly syndrome --
Griscelli syndrome --
Grisel syndrome --
Grix-blankenship-peterson syndrome --
Groenblad-strandberg syndrome --
Groll-hirschowitz syndrome --
Gsell-erdheim syndrome --
Guizar-vasquez-luengas syndrome --
Gullner syndrome --
Gunn syndrome --
Hageman factor (factor xii) deficiency --
Haim munk syndrome --
Hajdu cheney syndrome --
Hakim-adams syndrome --
Hall riggs syndrome --
Hallerman-streiff syndrome --
Hallervorden-spatz disease --
Haltia-santavuori syndrome --
Hanot-chauffard syndrome --
Happy puppet syndrome --
Harboyan syndrome --
Hard syndrome --
Hardcastle syndrome --
Harlequin syndrome --
Hartnup disease --
Hdr syndrome --
Hecht syndrome --
Hemochromatosis --
Hemoglobin disorders: overview --
Hemolytic anemia, congenital, with emphysema and cutis laxa --
Hemophagocytotic lymphohistiocytosis (hlh) --
Hemophilia a --
Hemophilia b --
Hennekam syndrome --
Hereditary acromelalgia --
Hereditary desmoid disease (hdd) --
Hereditary keratitis --
Hereditary motor sensory neuropathies (hmsn): overview --
Hereditary neurocutaneous angiomatoses: overview --
Hereditary neurocutaneous angioma --
Hereditary pancreatitis --
Hereditary sensory and autonomic neuropathies (hsan): overview --
Hereditary spherocytosis --
Hereditary stomatocytosis --
Hereditary telangiectasia --
Hereditary vitamin d-resistant rickets (hvdrr) --
Hereditary xerocytosis --
Hermansky-pudlak syndrome (hps) --
Hhh syndrome --
Hhhh syndrome --
Hirschsprung syndrome --
Histidinemia --
Histiocytosis --
Holt-oram syndrome --
Homocystinuria (hcu) --
Horton syndrome --
Hughes syndrome --
Hunter syndrome --
Huntington chorea (hc) --
Hurler syndrome --
Hypereosinophilic syndrome (hes) --
Hyperlipoproteinemia: an overview --
Hyperoxaluria, primary --
Hyperprolinemia --
Hypoglossia-hypodactylia syndrome --
Hypomelanosis of ito --
Hypoparathyroidism --
Hypophosphatasia --
Hypoplasia of the right ventricle --
Hypoplastic left heart syndrome --
Ice syndrome --
I-cell disease --
Ichthyosis vulgaris --
Idiopathic intracranial hypertension --
Idiopathic thrombocytopenia purpura --
Imerslund syndrome --
Iminoglycinuria --
Immotile cilia syndrome --
Immunodeficiency centromeric instability and facial anomalies syndrome --
Inclusion body myopathy --
Incontinentia pigmenti --
Infantile pyloric stenosis --
Infantile sialic acid storage disease --
Infantile-onset spinocerebellar ataxia (iosca) --
Infertile male syndrome --
Intestinal pseudoobstruction caused by neuronal disease --
Iridogoniodysgenesis syndrome --
Isaacs mertens syndrome --
Ischiopatellar dysplasia --
Isotretinoin embryopathy-like syndrome --
Isovaleric acidemia --
Ivemark syndrome --
Ivic syndrome --
Jacobs syndrome --
Jacobsen syndrome --
Jaffe-lichtenstein syndrome --
Jarcho-levin syndrome --
Jeune syndrome --
Job syndrome --
Johanson-blizzard syndrome (jbs) --
Johnson munson syndrome --
Jones syndrome --
Joubert syndrome --
Juberg-hayward syndrome --
Juberg-marsidi syndrome --
Judge misch wright syndrome --
Jumping frenchman of maine syndrome --
Jung wolff back stahl syndrome --
Juvenile hyaline fibromatosis --
Juvenile intestinal polyposis --
Juvenile myoclonic epilepsy (jme) --
Juvenile paralysis agitans of hunt. Juvenile sulfatidosis syndrome --
Kabuki syndrome --
Kaler-garrity-stern syndrome --
Kallmann syndrome --
Kantaputra-gorlin syndrome --
Kaplowitz-bodurtha syndrome --
Kaposi sarcoma --
Kapur-toriello syndrome --
Karandikar-maria-kamble syndrome --
Karsch-neugebauer syndrome --
Kartagener syndrome --
Kasabach-merritt syndrome --
Kashani-strom-utley syndrome --
Kasznica-carlson-coppedge syndrome --
Katsantoni-papadakou-lagoyanni syndrome --
Katz syndrome --
Kaufman oculo-cerebro-facial syndrome --
Kaveggia syndrome --
Kawasaki disease --
Kawashima-tsuji syndrome --
Kbg syndrome --
Kearns-sayre syndrome --
Kennedy disease --
Kennerknecht-vogel syndrome --
Kenny-caffey syndrome --
Keratitis ichthyosis deafness (kid) syndrome --
Keratitis, hereditary --
Keratosis palmaris et plantaris: overview --
Keratosis palmoplantaris with esophageal cancer --
Kersey syndrome --
Ketoacidosis of infancy --
Keutel syndrome --
Khalifa-graham syndrome --
Kikuchi-fujimoto disease --
Kindler syndrome --
King-denborough syndrome --
Kinky hair syndrome --
Kinsbourne syndrome --
Kleine-levin hibernation syndrome --
Kleiner-holmes syndrome --
Klinefelter syndrome xxy/xyy --
Klippel-feil syndrome --
Klippel-trenaunay syndrome --
Kniest syndrome --
Knobloch syndrome --
Köbberling-dunnigan syndrome --
Kocher-debré-sémélaigne syndrome --
Konigsmark syndrome --
Korula-wilson-salomon syndrome --
Kostmann syndrome --
Kosztolanyi syndrome --
Kousseff-nichols syndrome --
Kousseff syndrome --
Kowarski syndrome --
Kozlowski-brown-hardwick syndrome --
Kozlowski-celermajer syndrome --
Kozlowski-ouvrier syndrome --
Kozlowski-rafinski-kucharska syndrome --
Kozlowski-tsuruta-taki syndrome --
Kozlowski-warren-fisher syndrome --
Krasnow-qazi syndrome --
Krause-kivlin syndrome --
Krause-reese syndrome --
Krauss-herman-holmes syndrome --
Krieble-bixler syndrome --
Kudo-tamura-fuse syndrome --
Kumar-levick syndrome --
Kunze-riehm syndrome --
Kurczynski-casperson syndrome --
Kuster-majewski-hammerstein syndrome --
Kuzniecky syndrome --
Kwashiorkor --
Kyrle disease. L-2-hydroxyglutaric aciduria --
Laband syndrome --
Lacrimo-auriculo-dento-digital syndrome (ladd syndrome) --
Lafora syndrome or disease --
Lambert syndrome --
Landau-kleffner syndrome (lks) --
Landouzy-dejerine dystrophy --
Laron syndrome --
Larsen syndrome --
Laryngo-onycho-cutaneous (loc) syndrome --
Launois syndrome --
Laurence moon syndrome (lms) --
Leber congenital amaurosis (lca) --
Leber hereditary optic neuropathy (lhon) --
Legg-calvé-perthes disease --
Leigh syndrome --
Leiner syndrome --
Lemierre syndrome --
Lennox-gastaut syndrome --
Lenz syndrome --
Lenz-majewski syndrome --
Leopard syndrome --
Leri pleonosteosis --
Léri-weill syndrome --
Lesch-nyhan syndrome --
Letterer-siwe disease (lsd) --
Leukocyte adhesion deficiency (lad) syndrome --
Leukodystrophies: overview --
Leukonychia and other nail discoloration: overview --
Leukonychia totalis --
Liddle syndrome --
Li-fraumeni syndrome (lfs) --
Lightwood syndrome --
Limb deficiency–heart malformation syndrome --
Limb-girdle muscular dystrophy (lgmd) --
Lipofuscinoses, neuronal ceroid: overview --
Lissencephaly --
Loken senior syndrome --
Long qt syndrome (lqts) --
Louis-bar syndrome --
Lowe syndrome --
Lown-ganong-levine syndrome --
Lowry-wood syndrome --
Lucey-driscoll syndrome --
Lujan fryns syndrome --
Lutembacher syndrome --
Lyell syndrome --
Lyme disease --
Lymphedema --
Lymphedema hypoparathyroidism syndrome --
Lymphedema with distichiasis --
Lymphoreticular syndrome --
Lynch syndrome --
Lysinuric protein intolerance --
Machado-joseph disease --
Macrocephaly, hypertelorism, short limbs, and hearing loss syndrome --
Maffucci syndrome --
Majocchi disease --
Mallory-weiss syndrome --
Malpuech syndrome --
Mannosidosis --
Maple syrup urine disease (msud) --
Marden-walker syndrome --
Marfan syndrome --
Marinesco-sjögren syndrome --
Maroteaux cohen-solal bonaventure syndrome --
Maroteaux-lamy syndrome --
Marshall syndrome --
Marshall-smith syndrome --
Masa syndrome --
Mastocytosis --
Mauriac syndrome --
Mayer-von rokitansky-küster-hauser syndrome --
Mccune-albright syndrome --
Mckusick-kaufman syndrome --
Mcpherson-clemens syndrome --
Meckel-gruber syndrome (mks) --
Median cleft facial syndrome --
Meier-gorlin syndrome --
Meigs syndrome (including pseudo-meigs syndrome) --
Melanoma-astrocytoma syndrome --
Melas syndrome --
Melkersson-rosenthal syndrome --
Melnick-fraser syndrome --
Melnick-needles syndrome (mns) --
Meltzer syndrome --
Menkes syndrome --
Meretoja syndrome --
Merlob syndrome --
Merrf syndrome --
Mesomelia-synostoses syndrome --
Metachromatic leukodystrophy --
Metaphyseal chondrodysplasia, jansen type --
Metaphyseal chondrodysplasia, mckusick type --
Metaphyseal chondrodysplasia, schmid type --
Methemoglobinemia (congenital) --
Methionine malabsorption syndrome --
Methylmalonic acidemia (mma) --
Meyer-betz disease --
Michels syndrome --
Microgastria-limb reduction defects association --
Microvillous inclusion syndrome --
Macrocephaly, hypertelorism, short limbs, and hearing loss syndrome --
Maffucci syndrome --
Majocchi disease --
Mallory-weiss syndrome --
Malpuech syndrome --
Mannosidosis --
Maple syrup urine disease (msud) --
Marden-walker syndrome --
Marfan syndrome --
Marinesco-sjögren syndrome --
Maroteaux cohen-solal bonaventure syndrome --
Maroteaux-lamy syndrome --
Marshall syndrome --
Marshall-smith syndrome --
Masa syndrome --
Mastocytosis --
Mauriac syndrome --
Mayer-von rokitansky-küster-hauser syndrome --
Mccune-albright syndrome --
Mckusick-kaufman syndrome --
Mcpherson-clemens syndrome --
Meckel-gruber syndrome (mks) --
Median cleft facial syndrome --
Meier-gorlin syndrome --
Meigs syndrome (including pseudo-meigs syndrome) --
Melanoma-astrocytoma syndrome. Melas syndrome --
Melkersson-rosenthal syndrome --
Melnick-fraser syndrome --
Melnick-needles syndrome (mns) --
Meltzer syndrome --
Menkes syndrome --
Meretoja syndrome --
Merlob syndrome --
Merrf syndrome --
Mesomelia-synostoses syndrome --
Metachromatic leukodystrophy --
Metaphyseal chondrodysplasia, jansen type --
Metaphyseal chondrodysplasia, mckusick type --
Metaphyseal chondrodysplasia, schmid type --
Methemoglobinemia (congenital) --
Methionine malabsorption syndrome --
Methylmalonic acidemia (mma) --
Meyer-betz disease --
Michels syndrome --
Microgastria-limb reduction defects association --
Microvillous inclusion syndrome --
Midas syndrome --
Miller-dieker lissencephaly syndrome --
Miller disease --
Miller fisher syndrome --
Miller syndrome --
Milroy disease --
Milton disease --
Minicore disease with external ophthalmoplegia --
Mitochondrial acetoacetyl-coa thiolase (acat) deficiency --
Mitochondrial disease --
Moebius syndrome --
Mohr syndrome --
Mohr-tranebjaerg syndrome --
Mollica pavone antener syndrome --
Moloney syndrome --
Molybdenum cofactor deficiency --
Momo syndrome --
Monilethrix --
Moore-federman syndrome --
Moore-smith-weaver syndrome --
Morgagni-stewart-morel syndrome --
Morning glory syndrome --
Morquio syndrome --
Mount reback syndrome --
Mowat-wilson syndrome --
Moyamoya syndrome --
Moynahan alopecia syndrome --
Muckle-wells syndrome --
Mucolipidosis --
Mucopolysaccharidosis (mps) --
Mucoviscidosis --
Muir-torre syndrome (mts) --
Mulibrey nanism syndrome --
Muller barth menger syndrome --
Multicore myopathy --
Multiple carboxylase deficiency --
Multiple endocrine neoplasia (men) --
Multiple epiphyseal dysplasia (med) --
Multiple synostoses syndrome --
Murcs association --
Myasthenia gravis --
Myoadenylate deaminase deficiency --
Myocerebellar disorder --
Myopathy, distal, welander type --
Myotonia congenita --
Myotonic dystrophy --
Myotubular myopathy --
Myhre syndrome --
N syndrome --
N-acetylglutamate synthetase deficiency --
Nager syndrome --
Nail-patella syndrome --
Nance-horan syndrome --
Narp syndrome --
Nélaton syndrome --
Nemaline rod myopathy --
Neonatal lupus erythematosus --
Netherton syndrome --
Neurocutaneous melanosis --
Neurofibromatosis generalisata --
Neuronal ceroid lipofuscinoses --
Nezelof syndrome --
Niemann-pick disease --
Nonketotic hyperglycinemia --
Noonan syndrome --
Norrie disease --
Nyssen-van bogaert syndrome --
Oculocerebral with hypopigmentation syndrome --
Oculodentodigital syndrome --
Oculogastrointestinal muscular dystrophy --
Odontotrichomelic syndrome --
Ogilvie syndrome --
Omenn syndrome --
Omodysplasia --
Ondine syndrome --
Opitz-frias syndrome --
Oral-facial-digital syndrome (ofd) --
Ornithine carbamoyltransferase deficiency (otcd) --
Ornithine delta-aminotransferase deficiency --
Orotic aciduria --
Osgood-schlatter disease --
Osteogenesis imperfecta --
Osteopetrosis --
Otopalatodigital (opd) syndrome type i --
Otopalatodigital (opd) syndrome type ii --
Otospondylomegaepiphyseal dysplasia --
Pachydermoperiostosis (pdp) --
Pagod syndrome --
Pallister-hall syndrome --
Papillon-lefèvre syndrome --
Parana hard skin syndrome --
Paroxysmal cold hemoglobinuria --
Paroxysmal nocturnal hemolytic (pnh) anemia --
Parry-romberg syndrome --
Patterson pseudo-leprechaunism syndrome --
Pearson syndrome --
Pectus excavatum --
Pelizaeus-merzbacher syndrome --
Pemphigoid --
Pemphigus --
Pena-shokeir syndrome type i --
Pena-shokeir syndrome type ii --
Pendred syndrome --
Penta x syndrome --
Pentalogy of cantrell --
Pentosuria --
Pep syndrome --
Periodic paralysis (pp) --
Perlman syndrome --
Pernicious anemia --
Perrault syndrome --
Pettigrew syndrome --
Peutz-jeghers syndrome --
Phace syndrome --
Phenylketonuria --
Pheochromocytoma --
Phosphoenolpyruvate carboxykinase deficiency --
Phosphoglycerate kinase deficiency --
Phytosterolemia --
Pickwickian syndrome --
Pierre robin syndrome --
Pilomatrixoma --
Pitt-rogers-danks syndrome --
Pitt-williams brachydactyly syndrome --
Pituitary dwarfism --
Plott syndrome --
Poland syndrome --
Poland-moebius syndrome --
Polip syndrome --
Pollitt syndrome --
Polyarteritis nodosa (pan) --
Polycystic kidney disease (pkd) --
Polycystic liver disease --
Polyostotic osteolytic dysplasia --
Porokeratosis of mibelli --
Porphyrias --
Potter syndrome --
Powell venencie gordon syndrome --
Prader-labhart-willi syndrome --
Precocious puberty --
Primary immunodeficiencies --
Primary pulmonary hypertension (pph) --
Primary torsion dystonia --
Progeria syndrome --
Progressive bulbar palsy of childhood --
Progressive familial intrahepatic cholestasis (pfic) --
Prolidase deficiency --
Propionic acidemia --
Protein c deficiency --
Protein s deficiency --
Proteus syndrome --
Proximal muscular dystrophy --
Prune belly syndrome --
Psaume syndrome --
Pseudo-achondroplastic dysplasia --
Pseudohypoparathyroidism --
Pterygium syndrome --
Pulmonary alveolar microlithiasis --
Pulmonary alveolar proteinosis --
Pulmonary arteriovenous malformation --
Pulmonary hypoplasia --
Purine nucleoside phosphorylase deficiency --
Purtscher disease --
Pyknodysostosis --
Pyle disease --
Pyruvate carboxylase deficiency --
Pyruvate dehydrogenase complex deficiency --
Pyruvate kinase deficiency (pkd). Qazi markouizos syndrome --
(de) quervain thyroiditis --
Quincke edema --
Rabson-mendenhall syndrome --
Radial aplasia syndrome --
Radio-ulnar synostosis --
Ramban-hasharon syndrome --
Ramon syndrome --
Ramsay hunt syndrome type i --
Ramsay hunt syndrome type ii --
Raynaud syndrome --
Rear syndrome --
Reardon wilson cavanagh syndrome --
Recombinant chromosome 8 syndrome --
Refetoff syndrome --
Refsum syndrome --
Reifenstein syndrome --
Renal-coloboma syndrome --
Renal tubular dysgenesis --
Reticular dysgenesia --
Retinoblastoma --
Retino-hepato-endocrinologic syndrome --
Rett syndrome --
Reye syndrome --
Reynolds neri hermann syndrome --
Rhizomelic chondrodysplasia punctata type i --
Richards rundle syndrome --
Riley-smith syndrome --
Ritscher-schinzel syndrome --
Roberts syndrome --
Robinow syndrome --
Rogers syndrome --
Rolland-desbuquois syndrome --
Rombo syndrome --
Rosenberg-chutorian syndrome --
Rosenthal-kloepfer syndrome --
Rosewater syndrome --
Rosseli-gulienetti syndrome --
Rothmann makai syndrome --
Rothmund-thomson syndrome --
Rotor syndrome --
Roussy-levy syndrome --
Rubinstein-taybi syndrome --
Rud syndrome --
Rukavina type amyloid polyneuropathy --
Rundles-falls syndrome --
Russell weaver bull syndrome --
Russell-silver syndrome --
Rutledge lethal multiple congenital anomaly syndrome --
Ruvalcaba syndrome --
Sabin-feldman syndrome --
Salt-depletion syndrome --
Sandifer syndrome --
Sandrow syndrome --
Sanjad-sakati syndrome --
Sarcoidosis --
Sarcosinemia --
Sc phocomelia syndrome --
Schilder syndrome --
Schindler disease --
Schinzel syndrome --
Schinzel-giedion syndrome --
Schinzel acrocallosal syndrome --
Scholz-greenfield syndrome --
Schönlein-henoch purpura syndrome --
Schopf-schulz-passarge syndrome --
Schwartz-jampel syndrome --
Scids (severe combined immunodeficient syndrome) --
Scimitar syndrome --
Sclerema neonatorum --
Scurvy syndrome --
Sea-blue histiocytosis syndrome --
Seckel syndrome --
Segawa syndrome --
Seitelberger syndrome --
Senear-usher syndrome --
Sengers syndrome --
Sensenbrenner syndrome --
Serpentine fibula-polycystic kidney syndrome --
Setleis syndrome --
Sheehan syndrome --
Shokeir syndrome --
Shone complex or syndrome --
Short-rib polysyndactyly syndrome --
Short syndrome --
Shwachman syndrome --
Shy-drager syndrome --
Siadh --
Sialidosis --
Sick sinus syndrome --
Sickle cell anemia --
Simmonds syndrome --
Simpson-golabi-behmel syndrome --
Singleton-merten syndrome --
Sirenomelia --
Situs inversus --
Sjögren larsson syndrome (sls) --
Sjögren syndrome --
Smith-lemli-opitz syndrome --
Smith-magenis syndrome --
Sneddon syndrome --
Sotos syndrome --
Spastic diplegia of infancy --
Spina bifida --
Spinal muscular atrophy syndrome --
Spinocerebellar ataxia (sca): an overview --
Sponastrime dysplasia --
Spondylocarpotarsal synostosis syndrome --
Spondylo-enchondro-dysplasia --
Spondyloepimetaphyseal dysplasia --
Stargardt syndrome --
Stein-leventhal syndrome --
Stickler syndrome --
Stiff baby syndrome --
Stiff heart syndrome --
Stimmler syndrome --
Streeter anomaly --
Sturge-weber syndrome --
Succinyl-coa:3-ketoacid coa-transferase deficiency --
Sudden infant death syndrome (sids) --
Sulfocysteinuria --
Summerskill syndrome --
Superior mesenteric artery syndrome (smas) --
Sweet syndrome --
Swyer syndrome. Swyer-james-macleod syndrome --
Sylvian syndrome --
Syringomyelia --
Systemic lupus erythematosus (sle) --
Takayasu disease --
Tangier disease --
Tar syndrome --
Tel hashomer camptodactyly syndrome --
Temtamy syndrome --
Tethered spinal cord syndrome --
Tetralogy of fallot --
Thalassemia --
Thanatophoric dwarfism --
Thanos-stewart-zonana syndrome --
Three m syndrome --
Thrombotic thrombocytopenic purpura (ttp) --
Thyrotoxic periodic paralysis --
Tooth and nail syndrome --
Torch syndrome --
Toriello-carey syndrome --
Treacher collins syndrome --
Triad anomaly --
Tricho-dento-osseous (tdo) syndrome --
Tricho-oculo-dermo-vertebral syndrome (todv syndrome) --
Tricho-rhino-phalangeal dysplasia type i --
Tricho-rhino-phalangeal dysplasia type ii --
Tricho-rhino-phalangeal dysplasia type iii --
Triglyceride storage disease (tsd) --
Trimethylaminuria syndrome --
Trisomy 3p --
Trisomy 4p --
Trisomy 6q --
Trisomy 8 --
Trisomy 9 --
Trisomy 11q --
Trisomy 13 --
Trisomy 18 --
Trisomy 21 --
Truncus arteriosus communis --
Tuberous sclerosis --
Turcot syndrome --
Tyrosinemia --
Uhl anomaly --
Ullrich disease --
Ullrich-feichtiger syndrome --
Ullrich-turner syndrome --
Upshaw-schulman syndrome --
Urbach-wiethe syndrome --
Uridine diphosphate galactose epimerase deficiency --
Urticaria pigmentosa --
Usher syndrome --
Vacterl association with hydrocephalus --
Va(c)ter(l) association --
Van der woude syndrome --
Van maldergem wetzburger verloes syndrome --
Vaquez-osler disease --
Varadi-papp syndrome --
Vasquez hurst sotos syndrome --
Velocardiofacial syndrome --
Velo-facio-skeletal syndrome --
Verner-morrison syndrome --
Vogt-koyanagi-harada syndrome --
Vohwinkel syndrome --
Von gierke disease --
Von hippel lindau syndrome --
Von willebrand-jüergens disease --
Waardenburg syndrome --
Wadia-swami syndrome --
Wagner syndrome --
Wagr syndrome --
Waterhouse-friderichsen syndrome --
Watson syndrome --
Weaver syndrome --
Weber-christian disease --
Weill-marchesani syndrome --
Weismann-netter-stuhl syndrome --
Wermer syndrome --
Werner syndrome --
West syndrome --
Weyers syndrome ii --
Whipple disease --
Wiedemann-rautenstrauch syndrome --
Williams syndrome --
Williams-campbell syndrome --
Wilson disease --
Wilson-turner syndrome --
Wiskott-aldrich syndrome --
Wohlfart-kugelberg-welander syndrome --
Wolff-parkinson-white (wpw) syndrome --
Wolf-hirschhorn syndrome --
Wolfram syndrome --
Wyburn mason syndrome --
Xanthinuria --
Xeroderma pigmentosum (xp) --
Xeroderma, talipes, and enamel defect syndrome --
X-linked adrenoleukodystrophy (xla) --
X-linked hypophosphatemia (xlh) --
X-linked lymphoproliferative (xlp) syndrome --
Yellow nail syndrome --
Young syndrome --
Yunis-varon syndrome --
Zellweger syndrome --
Zunich neuroectodermal syndrome.
Responsibility: editors, Bruno Bissonnette [and others].

Abstract:

A resource for various major genetic syndromes and important anesthetic, diagnostic, and pharmacological considerations. It provides convenient A-Z coverage of more than 2,000 genetic, metabolic, and  Read more...

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2007 BRITISH MEDICAL ASSOCIATION MEDICAL BOOK AWARDS ANAESTHESIA CATEGORY First Prize - Syndromes: Rapid Recognition and Perioperative Implications, Bissonnette 'There are many books on congenitally Read more...

 
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<http://www.worldcat.org/oclc/607731405> # Syndromes : rapid recognition and perioperative implications
    a schema:CreativeWork, schema:Book, schema:MediaObject ;
    library:oclcnum "607731405" ;
    library:placeOfPublication <http://dbpedia.org/resource/New_York_City> ; # New York
    library:placeOfPublication <http://id.loc.gov/vocabulary/countries/nyu> ;
    schema:about <http://experiment.worldcat.org/entity/work/data/364665056#Topic/syndrome> ; # Syndrome
    schema:about <http://experiment.worldcat.org/entity/work/data/364665056#Topic/signs_and_symptoms> ; # Signs and Symptoms
    schema:about <http://dewey.info/class/616.075/e22/> ;
    schema:about <http://id.worldcat.org/fast/1141135> ; # Syndromes
    schema:about <http://experiment.worldcat.org/entity/work/data/364665056#Topic/diagnostic_techniques_and_procedures> ; # Diagnostic Techniques and Procedures
    schema:about <http://experiment.worldcat.org/entity/work/data/364665056#Topic/perioperative_care> ; # Perioperative Care
    schema:bookFormat schema:EBook ;
    schema:contributor <http://viaf.org/viaf/63361221> ; # Bruno Bissonnette
    schema:copyrightYear "2006" ;
    schema:datePublished "2006" ;
    schema:description "Gianotti-crosti syndrome -- Gilbert syndrome -- Gilles de la tourette syndrome -- Gillespie syndrome -- Gitelman syndrome -- Glanzmann thrombasthenia -- Glucose-6-phosphate dehydrogenase deficiency -- Glucose phosphate isomerase deficiency -- Glutaric acidemia type i (ga-i) -- Glutaric acidemia type ii (ga-ii) -- Glycogen storage diseases (gsd): an overview -- Glycogen storage disease type 0 -- Glycogen storage disease type i (gsd i) -- Glycogen storage disease type ii -- Glycogen storage disease type iii (gsd iii) -- Glycogen storage disease type iv (gsd iv) -- Glycogen storage disease type v (gsd v) -- Glycogen storage disease type vi (gsd vi) -- Glycogen storage disease type vii (gsd vii) -- Glycogen storage disease type viii (gsd viii) -- Goldenhar syndrome -- Goldston syndrome -- Goltz syndrome -- Goodman camptodactyly -- Goodpasture syndrome -- Gordon-holmes syndrome -- Gordon hyperkalemia-hypertension syndrome -- Gorham-stout disease -- Gorlin-chaudry-moss syndrome -- Gorlin-goltz syndrome -- Gottron syndrome -- Gradenigo syndrome -- Graham-boyle-troxell syndrome -- Grand-kaine-fulling syndrome -- Granddad syndrome -- Grant syndrome -- Graves disease -- Greig cephalopolysyndactyly syndrome -- Griscelli syndrome -- Grisel syndrome -- Grix-blankenship-peterson syndrome -- Groenblad-strandberg syndrome -- Groll-hirschowitz syndrome -- Gsell-erdheim syndrome -- Guizar-vasquez-luengas syndrome -- Gullner syndrome -- Gunn syndrome -- Hageman factor (factor xii) deficiency -- Haim munk syndrome -- Hajdu cheney syndrome -- Hakim-adams syndrome -- Hall riggs syndrome -- Hallerman-streiff syndrome -- Hallervorden-spatz disease -- Haltia-santavuori syndrome -- Hanot-chauffard syndrome -- Happy puppet syndrome -- Harboyan syndrome -- Hard syndrome -- Hardcastle syndrome -- Harlequin syndrome -- Hartnup disease -- Hdr syndrome -- Hecht syndrome -- Hemochromatosis -- Hemoglobin disorders: overview -- Hemolytic anemia, congenital, with emphysema and cutis laxa -- Hemophagocytotic lymphohistiocytosis (hlh) -- Hemophilia a -- Hemophilia b -- Hennekam syndrome -- Hereditary acromelalgia -- Hereditary desmoid disease (hdd) -- Hereditary keratitis -- Hereditary motor sensory neuropathies (hmsn): overview -- Hereditary neurocutaneous angiomatoses: overview -- Hereditary neurocutaneous angioma -- Hereditary pancreatitis -- Hereditary sensory and autonomic neuropathies (hsan): overview -- Hereditary spherocytosis -- Hereditary stomatocytosis -- Hereditary telangiectasia -- Hereditary vitamin d-resistant rickets (hvdrr) -- Hereditary xerocytosis -- Hermansky-pudlak syndrome (hps) -- Hhh syndrome -- Hhhh syndrome -- Hirschsprung syndrome -- Histidinemia -- Histiocytosis -- Holt-oram syndrome -- Homocystinuria (hcu) -- Horton syndrome -- Hughes syndrome -- Hunter syndrome -- Huntington chorea (hc) -- Hurler syndrome -- Hypereosinophilic syndrome (hes) -- Hyperlipoproteinemia: an overview -- Hyperoxaluria, primary -- Hyperprolinemia -- Hypoglossia-hypodactylia syndrome -- Hypomelanosis of ito -- Hypoparathyroidism -- Hypophosphatasia -- Hypoplasia of the right ventricle -- Hypoplastic left heart syndrome -- Ice syndrome -- I-cell disease -- Ichthyosis vulgaris -- Idiopathic intracranial hypertension -- Idiopathic thrombocytopenia purpura -- Imerslund syndrome -- Iminoglycinuria -- Immotile cilia syndrome -- Immunodeficiency centromeric instability and facial anomalies syndrome -- Inclusion body myopathy -- Incontinentia pigmenti -- Infantile pyloric stenosis -- Infantile sialic acid storage disease -- Infantile-onset spinocerebellar ataxia (iosca) -- Infertile male syndrome -- Intestinal pseudoobstruction caused by neuronal disease -- Iridogoniodysgenesis syndrome -- Isaacs mertens syndrome -- Ischiopatellar dysplasia -- Isotretinoin embryopathy-like syndrome -- Isovaleric acidemia -- Ivemark syndrome -- Ivic syndrome -- Jacobs syndrome -- Jacobsen syndrome -- Jaffe-lichtenstein syndrome -- Jarcho-levin syndrome -- Jeune syndrome -- Job syndrome -- Johanson-blizzard syndrome (jbs) -- Johnson munson syndrome -- Jones syndrome -- Joubert syndrome -- Juberg-hayward syndrome -- Juberg-marsidi syndrome -- Judge misch wright syndrome -- Jumping frenchman of maine syndrome -- Jung wolff back stahl syndrome -- Juvenile hyaline fibromatosis -- Juvenile intestinal polyposis -- Juvenile myoclonic epilepsy (jme) -- Juvenile paralysis agitans of hunt."@en ;
    schema:description "Juvenile sulfatidosis syndrome -- Kabuki syndrome -- Kaler-garrity-stern syndrome -- Kallmann syndrome -- Kantaputra-gorlin syndrome -- Kaplowitz-bodurtha syndrome -- Kaposi sarcoma -- Kapur-toriello syndrome -- Karandikar-maria-kamble syndrome -- Karsch-neugebauer syndrome -- Kartagener syndrome -- Kasabach-merritt syndrome -- Kashani-strom-utley syndrome -- Kasznica-carlson-coppedge syndrome -- Katsantoni-papadakou-lagoyanni syndrome -- Katz syndrome -- Kaufman oculo-cerebro-facial syndrome -- Kaveggia syndrome -- Kawasaki disease -- Kawashima-tsuji syndrome -- Kbg syndrome -- Kearns-sayre syndrome -- Kennedy disease -- Kennerknecht-vogel syndrome -- Kenny-caffey syndrome -- Keratitis ichthyosis deafness (kid) syndrome -- Keratitis, hereditary -- Keratosis palmaris et plantaris: overview -- Keratosis palmoplantaris with esophageal cancer -- Kersey syndrome -- Ketoacidosis of infancy -- Keutel syndrome -- Khalifa-graham syndrome -- Kikuchi-fujimoto disease -- Kindler syndrome -- King-denborough syndrome -- Kinky hair syndrome -- Kinsbourne syndrome -- Kleine-levin hibernation syndrome -- Kleiner-holmes syndrome -- Klinefelter syndrome xxy/xyy -- Klippel-feil syndrome -- Klippel-trenaunay syndrome -- Kniest syndrome -- Knobloch syndrome -- Köbberling-dunnigan syndrome -- Kocher-debré-sémélaigne syndrome -- Konigsmark syndrome -- Korula-wilson-salomon syndrome -- Kostmann syndrome -- Kosztolanyi syndrome -- Kousseff-nichols syndrome -- Kousseff syndrome -- Kowarski syndrome -- Kozlowski-brown-hardwick syndrome -- Kozlowski-celermajer syndrome -- Kozlowski-ouvrier syndrome -- Kozlowski-rafinski-kucharska syndrome -- Kozlowski-tsuruta-taki syndrome -- Kozlowski-warren-fisher syndrome -- Krasnow-qazi syndrome -- Krause-kivlin syndrome -- Krause-reese syndrome -- Krauss-herman-holmes syndrome -- Krieble-bixler syndrome -- Kudo-tamura-fuse syndrome -- Kumar-levick syndrome -- Kunze-riehm syndrome -- Kurczynski-casperson syndrome -- Kuster-majewski-hammerstein syndrome -- Kuzniecky syndrome -- Kwashiorkor -- Kyrle disease."@en ;
    schema:description "Melas syndrome -- Melkersson-rosenthal syndrome -- Melnick-fraser syndrome -- Melnick-needles syndrome (mns) -- Meltzer syndrome -- Menkes syndrome -- Meretoja syndrome -- Merlob syndrome -- Merrf syndrome -- Mesomelia-synostoses syndrome -- Metachromatic leukodystrophy -- Metaphyseal chondrodysplasia, jansen type -- Metaphyseal chondrodysplasia, mckusick type -- Metaphyseal chondrodysplasia, schmid type -- Methemoglobinemia (congenital) -- Methionine malabsorption syndrome -- Methylmalonic acidemia (mma) -- Meyer-betz disease -- Michels syndrome -- Microgastria-limb reduction defects association -- Microvillous inclusion syndrome -- Midas syndrome -- Miller-dieker lissencephaly syndrome -- Miller disease -- Miller fisher syndrome -- Miller syndrome -- Milroy disease -- Milton disease -- Minicore disease with external ophthalmoplegia -- Mitochondrial acetoacetyl-coa thiolase (acat) deficiency -- Mitochondrial disease -- Moebius syndrome -- Mohr syndrome -- Mohr-tranebjaerg syndrome -- Mollica pavone antener syndrome -- Moloney syndrome -- Molybdenum cofactor deficiency -- Momo syndrome -- Monilethrix -- Moore-federman syndrome -- Moore-smith-weaver syndrome -- Morgagni-stewart-morel syndrome -- Morning glory syndrome -- Morquio syndrome -- Mount reback syndrome -- Mowat-wilson syndrome -- Moyamoya syndrome -- Moynahan alopecia syndrome -- Muckle-wells syndrome -- Mucolipidosis -- Mucopolysaccharidosis (mps) -- Mucoviscidosis -- Muir-torre syndrome (mts) -- Mulibrey nanism syndrome -- Muller barth menger syndrome -- Multicore myopathy -- Multiple carboxylase deficiency -- Multiple endocrine neoplasia (men) -- Multiple epiphyseal dysplasia (med) -- Multiple synostoses syndrome -- Murcs association -- Myasthenia gravis -- Myoadenylate deaminase deficiency -- Myocerebellar disorder -- Myopathy, distal, welander type -- Myotonia congenita -- Myotonic dystrophy -- Myotubular myopathy -- Myhre syndrome -- N syndrome -- N-acetylglutamate synthetase deficiency -- Nager syndrome -- Nail-patella syndrome -- Nance-horan syndrome -- Narp syndrome -- Nélaton syndrome -- Nemaline rod myopathy -- Neonatal lupus erythematosus -- Netherton syndrome -- Neurocutaneous melanosis -- Neurofibromatosis generalisata -- Neuronal ceroid lipofuscinoses -- Nezelof syndrome -- Niemann-pick disease -- Nonketotic hyperglycinemia -- Noonan syndrome -- Norrie disease -- Nyssen-van bogaert syndrome -- Oculocerebral with hypopigmentation syndrome -- Oculodentodigital syndrome -- Oculogastrointestinal muscular dystrophy -- Odontotrichomelic syndrome -- Ogilvie syndrome -- Omenn syndrome -- Omodysplasia -- Ondine syndrome -- Opitz-frias syndrome -- Oral-facial-digital syndrome (ofd) -- Ornithine carbamoyltransferase deficiency (otcd) -- Ornithine delta-aminotransferase deficiency -- Orotic aciduria -- Osgood-schlatter disease -- Osteogenesis imperfecta -- Osteopetrosis -- Otopalatodigital (opd) syndrome type i -- Otopalatodigital (opd) syndrome type ii -- Otospondylomegaepiphyseal dysplasia -- Pachydermoperiostosis (pdp) -- Pagod syndrome -- Pallister-hall syndrome -- Papillon-lefèvre syndrome -- Parana hard skin syndrome -- Paroxysmal cold hemoglobinuria -- Paroxysmal nocturnal hemolytic (pnh) anemia -- Parry-romberg syndrome -- Patterson pseudo-leprechaunism syndrome -- Pearson syndrome -- Pectus excavatum -- Pelizaeus-merzbacher syndrome -- Pemphigoid -- Pemphigus -- Pena-shokeir syndrome type i -- Pena-shokeir syndrome type ii -- Pendred syndrome -- Penta x syndrome -- Pentalogy of cantrell -- Pentosuria -- Pep syndrome -- Periodic paralysis (pp) -- Perlman syndrome -- Pernicious anemia -- Perrault syndrome -- Pettigrew syndrome -- Peutz-jeghers syndrome -- Phace syndrome -- Phenylketonuria -- Pheochromocytoma -- Phosphoenolpyruvate carboxykinase deficiency -- Phosphoglycerate kinase deficiency -- Phytosterolemia -- Pickwickian syndrome -- Pierre robin syndrome -- Pilomatrixoma -- Pitt-rogers-danks syndrome -- Pitt-williams brachydactyly syndrome -- Pituitary dwarfism -- Plott syndrome -- Poland syndrome -- Poland-moebius syndrome -- Polip syndrome -- Pollitt syndrome -- Polyarteritis nodosa (pan) -- Polycystic kidney disease (pkd) -- Polycystic liver disease -- Polyostotic osteolytic dysplasia -- Porokeratosis of mibelli -- Porphyrias -- Potter syndrome -- Powell venencie gordon syndrome -- Prader-labhart-willi syndrome -- Precocious puberty -- Primary immunodeficiencies -- Primary pulmonary hypertension (pph) -- Primary torsion dystonia -- Progeria syndrome -- Progressive bulbar palsy of childhood -- Progressive familial intrahepatic cholestasis (pfic) -- Prolidase deficiency -- Propionic acidemia -- Protein c deficiency -- Protein s deficiency -- Proteus syndrome -- Proximal muscular dystrophy -- Prune belly syndrome -- Psaume syndrome -- Pseudo-achondroplastic dysplasia -- Pseudohypoparathyroidism -- Pterygium syndrome -- Pulmonary alveolar microlithiasis -- Pulmonary alveolar proteinosis -- Pulmonary arteriovenous malformation -- Pulmonary hypoplasia -- Purine nucleoside phosphorylase deficiency -- Purtscher disease -- Pyknodysostosis -- Pyle disease -- Pyruvate carboxylase deficiency -- Pyruvate dehydrogenase complex deficiency -- Pyruvate kinase deficiency (pkd)."@en ;
    schema:description "Blue diaper syndrome -- Blue rubber bleb nevus syndrome -- Book syndrome -- Boomerang dysplasia -- Börjeson-forssman-lehmann syndrome -- Borrone dermato-cardio-skeletal syndrome -- Boucher-neuhäuser syndrome -- Bouveret syndrome -- Bowen syndrome -- Bowen-conradi syndrome -- Brachmann-de lange syndrome -- Brachydactyly-ectrodactyly syndrome with fibular aplasia or hypoplasia -- Brachymorphism-onychodysplasia-dysphalangism syndrome -- Branchial myoclonus with spastic paraparesis and cerebellar ataxia syndrome -- Branchio-oculo-facial syndrome -- Branchio-skeleto-genital syndrome -- Brauer syndrome -- Brittle hair and mental deficit syndrome -- Bronze baby syndrome -- Brown-vialetto-van laere syndrome -- Brugada syndrome -- Bruyn-scheltens syndrome -- Budd-chiari syndrome -- Burton syndrome -- Buschke-ollendorff syndrome -- Wagr syndrome -- Brunner winter syndrome -- C syndrome -- Cacchi-ricci disease -- Cadasil -- Cahmr syndrome -- Calderon gonzalez-cantu syndrome -- Camfak syndrome -- Camptodactyly syndrome, guadalajara types i and ii -- Camurati-engelmann syndrome -- Canavan syndrome -- Cantalamessa-baldiniambrosi syndrome -- Cantu syndrome -- Capos syndrome -- Carbon baby syndrome -- Cardiogenital syndrome -- Carey-fineman-ziter syndrome -- Carmi syndrome -- Carnevale-canun-mendoza syndrome -- Carnevale-hernandez-castillotorres syndrome -- Carnevale-krajewska-fischetto syndrome -- Carney complex -- Carnitine deficiency -- Carnitine palmitoyltransferase deficiency -- Carnosinemia -- Caroli disease and caroli syndrome -- Carpal tunnel syndrome -- Cartilage-hair hypoplasia syndrome -- Cartwright-nelson-fryns syndrome -- Castleman disease -- Castro-gago-pombonovo syndrome -- Cat cry syndrome -- Cat eye syndrome -- Cataract-alopecia-sclerodactyly syndrome -- Cataract-microcornea-syndrome -- Catlin marks -- Cavernous sinus syndrome -- Cayler syndrome -- Ccge syndrome -- Cecato-de lima-pinheiro syndrome -- Celiac disease -- Cenani syndactylism -- Cennamo gangemi magli syndrome -- Central core disease -- Cephaloskeletal dysplasia -- Cerebellar hypoplasia -- Cerebral aneurysm-cirrhosis syndrome -- Cerebro-oculo-skeleto-renal syndrome -- Cerebro-reno-digital syndrome -- Cerebrocortical degeneration of infancy -- Cerebrocostomandibular syndrome -- Ceroid storage disease -- Ceruloplasmin deficiency -- Cervico-oculo-acoustic syndrome -- Chands -- Charcot-marie-tooth disease -- Charge syndrome -- Charlie m syndrome -- Chauffard syndrome -- Chediak-higashi syndrome -- Chemke-oliver-mallek syndrome -- Cherubism -- Child syndrome -- Cholinesterase deficiency -- Chondrodysplasia giant cell type -- Chondrodysplasia grebe type -- Chondrodysplasia-pseudohermaphroditism syndrome -- Chondrodysplasia punctata -- Chorioretinal dysplasia-microcephaly-mental retardation syndrome -- Choroideremia -- Christ-siemens-touraine syndrome -- Chronic fatigue syndrome -- Chronic granulomatous disease -- Chudley mental retardation syndrome -- Chudley-rozdilsky-houston syndrome -- Citrullinemia -- Cleft hand and absent tibia syndrome -- Cleft-limb-heart malformation syndrome -- Cleft palate lateral synechiae syndrome -- Cleidocranial dysplasia -- Cleidorhizomelic syndrome -- Cloverleaf skull -- Clubfoot -- Coach syndrome -- Coats disease -- Cockayne syndrome -- Codas syndrome -- Coffin-lowry syndrome -- Coffin-siris syndrome -- Cohen syndrome -- Cold agglutinin syndrome -- Cold hypersensitivity syndrome -- Cole-carpenter syndrome -- Coleman-randall syndrome -- Collins-dennis-clarke-pope syndrome -- Collodion baby -- Colpocephaly -- Complete androgen insensitivity syndrome -- Complex disease/deficiency (overview) -- Complex i deficiency -- Complex ii deficiency -- Complex iii deficiency -- Complex iv deficiency -- Complex v deficiency -- Cone-rod retinal dystrophies -- Congenital afibrinogenemia -- Congenital atresia of larynx -- Congenital disorders of glycosylation -- Congenital dyserythropoietic anemias -- Congenital factor vii deficiency -- Congenital hypothyroidism -- Congenital muscular dystrophy: an overview -- Congenital myopathy with fiber-type disproportion -- Congenital pancreatic agenesis -- Congenital pseudarthrosis of clavicle -- Congenital pulmonary hypoplasia -- Congenital shortness of the costocoracoid ligament -- Congenital stridor -- Congenital varicella syndrome -- Conn syndrome -- Cooks syndrome -- Corneal cerebellar syndrome -- Corneodermatoosseous syndrome -- Corpus callosum agenesis -- Costello syndrome -- Cousin-walbaum-cegarra syndrome -- Cowchock syndrome -- Cowden syndrome -- Cramer-niederdellmann syndrome -- Crane-heise syndrome -- Craniodiaphyseal dysplasia -- Craniofrontonasal dysplasia -- Craniolacunia -- Craniomicromelic syndrome -- Craniosynostosis -- Crest syndrome -- Creutzfeldt-jakob disease -- Crigler-najjar syndrome -- Cumming syndrome -- Curatolo-cilio syndrome -- Cutis laxa -- Cutis marmorata telangiectatica congenita -- Cystic hygroma -- Cystinosis."@en ;
    schema:description "Qazi markouizos syndrome -- (de) quervain thyroiditis -- Quincke edema -- Rabson-mendenhall syndrome -- Radial aplasia syndrome -- Radio-ulnar synostosis -- Ramban-hasharon syndrome -- Ramon syndrome -- Ramsay hunt syndrome type i -- Ramsay hunt syndrome type ii -- Raynaud syndrome -- Rear syndrome -- Reardon wilson cavanagh syndrome -- Recombinant chromosome 8 syndrome -- Refetoff syndrome -- Refsum syndrome -- Reifenstein syndrome -- Renal-coloboma syndrome -- Renal tubular dysgenesis -- Reticular dysgenesia -- Retinoblastoma -- Retino-hepato-endocrinologic syndrome -- Rett syndrome -- Reye syndrome -- Reynolds neri hermann syndrome -- Rhizomelic chondrodysplasia punctata type i -- Richards rundle syndrome -- Riley-smith syndrome -- Ritscher-schinzel syndrome -- Roberts syndrome -- Robinow syndrome -- Rogers syndrome -- Rolland-desbuquois syndrome -- Rombo syndrome -- Rosenberg-chutorian syndrome -- Rosenthal-kloepfer syndrome -- Rosewater syndrome -- Rosseli-gulienetti syndrome -- Rothmann makai syndrome -- Rothmund-thomson syndrome -- Rotor syndrome -- Roussy-levy syndrome -- Rubinstein-taybi syndrome -- Rud syndrome -- Rukavina type amyloid polyneuropathy -- Rundles-falls syndrome -- Russell weaver bull syndrome -- Russell-silver syndrome -- Rutledge lethal multiple congenital anomaly syndrome -- Ruvalcaba syndrome -- Sabin-feldman syndrome -- Salt-depletion syndrome -- Sandifer syndrome -- Sandrow syndrome -- Sanjad-sakati syndrome -- Sarcoidosis -- Sarcosinemia -- Sc phocomelia syndrome -- Schilder syndrome -- Schindler disease -- Schinzel syndrome -- Schinzel-giedion syndrome -- Schinzel acrocallosal syndrome -- Scholz-greenfield syndrome -- Schönlein-henoch purpura syndrome -- Schopf-schulz-passarge syndrome -- Schwartz-jampel syndrome -- Scids (severe combined immunodeficient syndrome) -- Scimitar syndrome -- Sclerema neonatorum -- Scurvy syndrome -- Sea-blue histiocytosis syndrome -- Seckel syndrome -- Segawa syndrome -- Seitelberger syndrome -- Senear-usher syndrome -- Sengers syndrome -- Sensenbrenner syndrome -- Serpentine fibula-polycystic kidney syndrome -- Setleis syndrome -- Sheehan syndrome -- Shokeir syndrome -- Shone complex or syndrome -- Short-rib polysyndactyly syndrome -- Short syndrome -- Shwachman syndrome -- Shy-drager syndrome -- Siadh -- Sialidosis -- Sick sinus syndrome -- Sickle cell anemia -- Simmonds syndrome -- Simpson-golabi-behmel syndrome -- Singleton-merten syndrome -- Sirenomelia -- Situs inversus -- Sjögren larsson syndrome (sls) -- Sjögren syndrome -- Smith-lemli-opitz syndrome -- Smith-magenis syndrome -- Sneddon syndrome -- Sotos syndrome -- Spastic diplegia of infancy -- Spina bifida -- Spinal muscular atrophy syndrome -- Spinocerebellar ataxia (sca): an overview -- Sponastrime dysplasia -- Spondylocarpotarsal synostosis syndrome -- Spondylo-enchondro-dysplasia -- Spondyloepimetaphyseal dysplasia -- Stargardt syndrome -- Stein-leventhal syndrome -- Stickler syndrome -- Stiff baby syndrome -- Stiff heart syndrome -- Stimmler syndrome -- Streeter anomaly -- Sturge-weber syndrome -- Succinyl-coa:3-ketoacid coa-transferase deficiency -- Sudden infant death syndrome (sids) -- Sulfocysteinuria -- Summerskill syndrome -- Superior mesenteric artery syndrome (smas) -- Sweet syndrome -- Swyer syndrome."@en ;
    schema:description "Offers an A-Z encyclopedic presentation of more than 2000 syndromes. Each entry gives an overview of the syndrome, its major characteristics, genetic inheritance, pathophysiology, diagnosis, and clinical features. The overview provides access to the information needed to provide care for children and adults affected with pre-existing medical conditions."@en ;
    schema:description "D-2-hydroxyglutaric aciduria -- Da silva syndrome -- Danbolt-closs syndrome -- Dandy-walker malformation -- Darier-white disease -- De die smulders vles fryns syndrome -- De morsier syndrome -- De sanctis cacchione syndrome -- De toni debré fanconi syndrome -- Deafness-optic atrophy syndrome -- Degos syndrome -- Dejerine-sottas syndrome -- Delleman oorthuys syndrome -- Dent disease -- Denys-drash syndrome -- Dermatomyositis and polymyositis -- Desbuquois syndrome -- Devriendt legius fryns syndrome -- D-glyceric acidemia -- Diaminopentanuria -- Diastematomyelia -- Diastrophic dysplasia -- Diencephalic syndrome -- Diferrante syndrome -- Digeorge syndrome -- Digitotalar dysmorphism -- Dihydropyrimidinase deficiency -- Dihydropyrimidine dehydrogenase deficiency -- Dionisi vici sabetta gambarara syndrome -- Disaccharide intolerance type i -- Disaccharide intolerance type ii -- Donnai-barrow syndrome -- Donohue syndrome -- Door syndrome -- Drachtman weinblatt sitarz syndrome -- Du pan syndrome -- Duane retraction syndrome -- Dubin-johnson syndrome -- Dubowitz syndrome -- Duchenne muscular dystrophy -- Duker weiss siber syndrome -- Dyggve-melchior-clausen syndrome -- Dyke-davidoff-masson syndrome -- Dyskeratosis congenita -- Dysosteosclerosis -- Dysplasia epiphysealis hemimelica -- Eastman-bixler syndrome -- Ebstein syndrome -- Ectodermal dysplasia -- Ectodermal dysplasia, ectrodactyly, and macular dystrophy (eem) syndrome -- Ectrodactyly -- Ectrodactyly, ectodermal dysplasia, and clefting (eec) syndrome -- Ehlers-danlos syndrome (eds): an overview -- Ehlers-danlos syndrome (eds) -- Eisenmenger reaction -- Elejalde syndrome -- Ellis-van creveld syndrome -- Emery-dreifuss muscular dystrophy (edmd) -- Encephalocele -- Eosinophilic endomyocardial disease -- Epidermal nevus syndrome -- Epidermolysis bullosa -- Epstein syndrome -- Erb and klumpke palsy -- Erdheim-chester disease (ecd) -- Eronen syndrome -- Erythema multiforme (em) -- Erythromelalgia -- Erythropoietic protoporphyria -- Essential thrombocythemia -- F syndrome -- Fabry disease -- Facio-oculo-acoustico-renal (foar) syndrome -- Facio-thoraco-genital syndrome -- Fahr syndrome -- Familial amyotrophic dystonic paraplegia -- Familial atrial myxoma -- Familial benign copper deficiency -- Familial generalized anhidrosis -- Familial hyperaldosteronism -- Familial hyperlysinemia -- Familial hypogonadotrophic eunuchoidism -- Familial inverted choreoathetosis -- Familial juvenile nephronophthisis (nph) -- Familial mediterranean fever -- Familial nonchromaffin paragangliomas -- Familial osteodysplasia -- Familial porencephaly -- Familial progressive scleroderma -- Fanconi anemia -- Fanconi-bickel syndrome (fbs) -- Farber uzman syndrome -- Faulk epstein jones syndrome -- Feigenbaum bergeron richardson syndrome -- Feingold syndrome -- Felty syndrome -- Femoral-facial syndrome -- Femur-fibula-ulna syndrome -- Fenton wilkinson toselano syndrome -- Fetal alcohol syndrome (fas) -- Fetal aminopterin syndrome -- Fetal cocaine syndrome -- Fg syndrome -- Fibrin stabilizing factor (factor xiii) deficiency -- Fibrocystic pulmonary dysplasia -- Fibrodysplasia ossificans progressiva -- Fibromatoses -- Floating-harbor syndrome (fhs) -- Foix alajouanine syndrome -- Folic acid deficiency -- Forsius-ericksson syndrome -- Fragile x syndrome -- Fraser syndrome -- Freeman-sheldon syndrome (fss) -- Friedreich ataxia (frda) -- Fronto-metaphyseal dysplasia of gorlin (fmd) -- Frydman cohen karmon syndrome -- Fryns syndrome -- Fucosidosis -- Galactosemia -- Galactosialidosis -- Gangliosidosis (gm1) type i -- Gangliosidosis (gm2) type ii -- Garcia-lurie syndrome -- Gaucher disease -- Geleophysic dysplasia -- Generalized arterial calcification of infancy -- Genoa syndrome -- Geroderma osteodysplastica syndrome -- Gerstmann-sträussler disease."@en ;
    schema:description "Swyer-james-macleod syndrome -- Sylvian syndrome -- Syringomyelia -- Systemic lupus erythematosus (sle) -- Takayasu disease -- Tangier disease -- Tar syndrome -- Tel hashomer camptodactyly syndrome -- Temtamy syndrome -- Tethered spinal cord syndrome -- Tetralogy of fallot -- Thalassemia -- Thanatophoric dwarfism -- Thanos-stewart-zonana syndrome -- Three m syndrome -- Thrombotic thrombocytopenic purpura (ttp) -- Thyrotoxic periodic paralysis -- Tooth and nail syndrome -- Torch syndrome -- Toriello-carey syndrome -- Treacher collins syndrome -- Triad anomaly -- Tricho-dento-osseous (tdo) syndrome -- Tricho-oculo-dermo-vertebral syndrome (todv syndrome) -- Tricho-rhino-phalangeal dysplasia type i -- Tricho-rhino-phalangeal dysplasia type ii -- Tricho-rhino-phalangeal dysplasia type iii -- Triglyceride storage disease (tsd) -- Trimethylaminuria syndrome -- Trisomy 3p -- Trisomy 4p -- Trisomy 6q -- Trisomy 8 -- Trisomy 9 -- Trisomy 11q -- Trisomy 13 -- Trisomy 18 -- Trisomy 21 -- Truncus arteriosus communis -- Tuberous sclerosis -- Turcot syndrome -- Tyrosinemia -- Uhl anomaly -- Ullrich disease -- Ullrich-feichtiger syndrome -- Ullrich-turner syndrome -- Upshaw-schulman syndrome -- Urbach-wiethe syndrome -- Uridine diphosphate galactose epimerase deficiency -- Urticaria pigmentosa -- Usher syndrome -- Vacterl association with hydrocephalus -- Va(c)ter(l) association -- Van der woude syndrome -- Van maldergem wetzburger verloes syndrome -- Vaquez-osler disease -- Varadi-papp syndrome -- Vasquez hurst sotos syndrome -- Velocardiofacial syndrome -- Velo-facio-skeletal syndrome -- Verner-morrison syndrome -- Vogt-koyanagi-harada syndrome -- Vohwinkel syndrome -- Von gierke disease -- Von hippel lindau syndrome -- Von willebrand-jüergens disease -- Waardenburg syndrome -- Wadia-swami syndrome -- Wagner syndrome -- Wagr syndrome -- Waterhouse-friderichsen syndrome -- Watson syndrome -- Weaver syndrome -- Weber-christian disease -- Weill-marchesani syndrome -- Weismann-netter-stuhl syndrome -- Wermer syndrome -- Werner syndrome -- West syndrome -- Weyers syndrome ii -- Whipple disease -- Wiedemann-rautenstrauch syndrome -- Williams syndrome -- Williams-campbell syndrome -- Wilson disease -- Wilson-turner syndrome -- Wiskott-aldrich syndrome -- Wohlfart-kugelberg-welander syndrome -- Wolff-parkinson-white (wpw) syndrome -- Wolf-hirschhorn syndrome -- Wolfram syndrome -- Wyburn mason syndrome -- Xanthinuria -- Xeroderma pigmentosum (xp) -- Xeroderma, talipes, and enamel defect syndrome -- X-linked adrenoleukodystrophy (xla) -- X-linked hypophosphatemia (xlh) -- X-linked lymphoproliferative (xlp) syndrome -- Yellow nail syndrome -- Young syndrome -- Yunis-varon syndrome -- Zellweger syndrome -- Zunich neuroectodermal syndrome."@en ;
    schema:description "L-2-hydroxyglutaric aciduria -- Laband syndrome -- Lacrimo-auriculo-dento-digital syndrome (ladd syndrome) -- Lafora syndrome or disease -- Lambert syndrome -- Landau-kleffner syndrome (lks) -- Landouzy-dejerine dystrophy -- Laron syndrome -- Larsen syndrome -- Laryngo-onycho-cutaneous (loc) syndrome -- Launois syndrome -- Laurence moon syndrome (lms) -- Leber congenital amaurosis (lca) -- Leber hereditary optic neuropathy (lhon) -- Legg-calvé-perthes disease -- Leigh syndrome -- Leiner syndrome -- Lemierre syndrome -- Lennox-gastaut syndrome -- Lenz syndrome -- Lenz-majewski syndrome -- Leopard syndrome -- Leri pleonosteosis -- Léri-weill syndrome -- Lesch-nyhan syndrome -- Letterer-siwe disease (lsd) -- Leukocyte adhesion deficiency (lad) syndrome -- Leukodystrophies: overview -- Leukonychia and other nail discoloration: overview -- Leukonychia totalis -- Liddle syndrome -- Li-fraumeni syndrome (lfs) -- Lightwood syndrome -- Limb deficiency–heart malformation syndrome -- Limb-girdle muscular dystrophy (lgmd) -- Lipofuscinoses, neuronal ceroid: overview -- Lissencephaly -- Loken senior syndrome -- Long qt syndrome (lqts) -- Louis-bar syndrome -- Lowe syndrome -- Lown-ganong-levine syndrome -- Lowry-wood syndrome -- Lucey-driscoll syndrome -- Lujan fryns syndrome -- Lutembacher syndrome -- Lyell syndrome -- Lyme disease -- Lymphedema -- Lymphedema hypoparathyroidism syndrome -- Lymphedema with distichiasis -- Lymphoreticular syndrome -- Lynch syndrome -- Lysinuric protein intolerance -- Machado-joseph disease -- Macrocephaly, hypertelorism, short limbs, and hearing loss syndrome -- Maffucci syndrome -- Majocchi disease -- Mallory-weiss syndrome -- Malpuech syndrome -- Mannosidosis -- Maple syrup urine disease (msud) -- Marden-walker syndrome -- Marfan syndrome -- Marinesco-sjögren syndrome -- Maroteaux cohen-solal bonaventure syndrome -- Maroteaux-lamy syndrome -- Marshall syndrome -- Marshall-smith syndrome -- Masa syndrome -- Mastocytosis -- Mauriac syndrome -- Mayer-von rokitansky-küster-hauser syndrome -- Mccune-albright syndrome -- Mckusick-kaufman syndrome -- Mcpherson-clemens syndrome -- Meckel-gruber syndrome (mks) -- Median cleft facial syndrome -- Meier-gorlin syndrome -- Meigs syndrome (including pseudo-meigs syndrome) -- Melanoma-astrocytoma syndrome -- Melas syndrome -- Melkersson-rosenthal syndrome -- Melnick-fraser syndrome -- Melnick-needles syndrome (mns) -- Meltzer syndrome -- Menkes syndrome -- Meretoja syndrome -- Merlob syndrome -- Merrf syndrome -- Mesomelia-synostoses syndrome -- Metachromatic leukodystrophy -- Metaphyseal chondrodysplasia, jansen type -- Metaphyseal chondrodysplasia, mckusick type -- Metaphyseal chondrodysplasia, schmid type -- Methemoglobinemia (congenital) -- Methionine malabsorption syndrome -- Methylmalonic acidemia (mma) -- Meyer-betz disease -- Michels syndrome -- Microgastria-limb reduction defects association -- Microvillous inclusion syndrome -- Macrocephaly, hypertelorism, short limbs, and hearing loss syndrome -- Maffucci syndrome -- Majocchi disease -- Mallory-weiss syndrome -- Malpuech syndrome -- Mannosidosis -- Maple syrup urine disease (msud) -- Marden-walker syndrome -- Marfan syndrome -- Marinesco-sjögren syndrome -- Maroteaux cohen-solal bonaventure syndrome -- Maroteaux-lamy syndrome -- Marshall syndrome -- Marshall-smith syndrome -- Masa syndrome -- Mastocytosis -- Mauriac syndrome -- Mayer-von rokitansky-küster-hauser syndrome -- Mccune-albright syndrome -- Mckusick-kaufman syndrome -- Mcpherson-clemens syndrome -- Meckel-gruber syndrome (mks) -- Median cleft facial syndrome -- Meier-gorlin syndrome -- Meigs syndrome (including pseudo-meigs syndrome) -- Melanoma-astrocytoma syndrome."@en ;
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