domingo, 21 de janeiro de 2018

Conceitos

Directorios

Doenças raras 
A maior parte deve-se a alteraçao do codigo genetico- doenças geneticas
Na Europa denominamsedoenças raras a doenças que surgem em menos que 1/2000 da populaçao. Nos Estados Unidos estabeleceu- se  1/7000
Esta situaçao leva a um numero reduzido de informaçao cientifica a de meios terapeuticos
 http://www.doctissimo.fr/html/sante/mag_2001/mag0126/dossier/sa_4000_maladies_orphelines_niv2.htm

Lista de doenças raras
https://www.hon.ch/HONselect/RareDiseases/
Acrocephalosyndactylia  Acrodermatitis
  Addison Disease  Adie Syndrome
  Alagille Syndrome  Amylose
  Amyotrophic Lateral Sclerosis  Angelman Syndrome
  Angiolymphoid Hyperplasia with Eosinophilia  Arnold-Chiari Malformation
  Arthritis, Juvenile Rheumatoid  Asperger Syndrome
  Bardet-Biedl Syndrome  Barrett Esophagus
  Beckwith-Wiedemann Syndrome  Behcet Syndrome
  Bloom Syndrome  Bowen's Disease
  Brachial Plexus Neuropathies  Brown-Sequard Syndrome
  Budd-Chiari Syndrome  Burkitt Lymphoma
  Carcinoma 256, Walker  Caroli Disease
  Charcot-Marie-Tooth Disease  Chediak-Higashi Syndrome
  Chiari-Frommel Syndrome  Chondrodysplasia Punctata
  Colonic Pseudo-Obstruction  Colorectal Neoplasms, Hereditary Nonpolyposis
  Craniofacial Dysostosis  Creutzfeldt-Jakob Syndrome
  Crohn Disease  Cushing Syndrome
  Cystic Fibrosis
  Dandy-Walker Syndrome  De Lange Syndrome
  Dementia, Vascular  Dermatitis Herpetiformis
  DiGeorge Syndrome  Diffuse Cerebral Sclerosis of Schilder
  Duane Retraction Syndrome  Dupuytren Contracture
  Ebstein Anomaly  Eisenmenger Complex
  Ellis-Van Creveld Syndrome  Encephalitis
  Enchondromatosis  Epidermal Necrolysis, Toxic
  Facial Hemiatrophy  Factor XII Deficiency
  Fanconi Anemia  Felty's Syndrome
  Fibrous Dysplasia, Polyostotic  Fox-Fordyce Disease
  Friedreich Ataxia  Fusobacterium
  Gardner Syndrome  Gaucher Disease
  Gerstmann Syndrome  Giant Lymph Node Hyperplasia
  Glycogen Storage Disease Type I  Glycogen Storage Disease Type II
  Glycogen Storage Disease Type IV  Glycogen Storage Disease Type V
  Glycogen Storage Disease Type VII  Goldenhar Syndrome
  Guillain-Barre Syndrome
  Hallermann's Syndrome  Hamartoma Syndrome, Multiple
  Hartnup Disease  Hepatolenticular Degeneration
  Hepatolenticular Degeneration  Hereditary Sensory and Motor Neuropathy
  Hirschsprung Disease  Histiocytic Necrotizing Lymphadenitis
  Histiocytosis, Langerhans-Cell  Hodgkin Disease
  Horner Syndrome  Huntington Disease
  Hyperaldosteronism  Hyperhidrosis
  Hyperostosis, Diffuse Idiopathic Skeletal  Hypopituitarism
  Inappropriate ADH Syndrome  Intestinal Polyps
  Isaacs Syndrome
  Kartagener Syndrome  Kearns-Sayre Syndrome
  Klippel-Feil Syndrome  Klippel-Trenaunay-Weber Syndrome
  Kluver-Bucy Syndrome  Korsakoff Syndrome
  Lafora Disease  Lambert-Eaton Myasthenic Syndrome
  Landau-Kleffner Syndrome  Langer-Giedion Syndrome
  Leigh Disease  Lesch-Nyhan Syndrome
  Leukodystrophy, Globoid Cell  Li-Fraumeni Syndrome
  Long QT Syndrome
  Machado-Joseph Disease  Mallory-Weiss Syndrome
  Marek Disease  Marfan Syndrome
  Meckel Diverticulum  Meige Syndrome
  Melkersson-Rosenthal Syndrome  Meniere Disease
  Mikulicz' Disease  Miller Fisher Syndrome
  Mobius Syndrome  Moyamoya Disease
  Mucocutaneous Lymph Node Syndrome  Mucopolysaccharidosis I
  Mucopolysaccharidosis II  Mucopolysaccharidosis III
  Mucopolysaccharidosis IV  Mucopolysaccharidosis VI
  Multiple Endocrine Neoplasia Type 1  Munchausen Syndrome by Proxy
  Muscular Atrophy, Spinal
  Narcolepsy  Neuroaxonal Dystrophies
  Neuromyelitis Optica  Neuronal Ceroid-Lipofuscinoses
  Niemann-Pick Diseases  Noonan Syndrome
  Optic Atrophies, Hereditary  Osteitis Deformans
  Osteochondritis  Osteochondrodysplasias
  Osteolysis, Essential
  Paget Disease Extramammary  Paget's Disease, Mammary
  Panniculitis, Nodular Nonsuppurative  Papillon-Lefevre Disease
  Paralysis  Pelizaeus-Merzbacher Disease
  Pemphigus, Benign Familial  Penile Induration
  Pericarditis, Constrictive  Peroxisomal Disorders
  Peutz-Jeghers Syndrome  Pick Disease of the Brain
  Pierre Robin Syndrome  Pigmentation Disorders
  Pityriasis Lichenoides  Polycystic Ovary Syndrome
  Polyendocrinopathies, Autoimmune  Prader-Willi Syndrome
  Pupil Disorders
  Rett Syndrome  Reye Syndrome
  Rubinstein-Taybi Syndrome
  Sandhoff Disease  Sarcoma, Ewing's
  Schnitzler Syndrome  Sjogren's Syndrome
  Sjogren-Larsson Syndrome  Smith-Lemli-Opitz Syndrome
  Spinal Muscular Atrophies of Childhood  Sturge-Weber Syndrome
  Sweating, Gustatory
  Takayasu Arteritis  Tangier Disease
  Tay-Sachs Disease  Thromboangiitis Obliterans
  Thyroiditis, Autoimmune  Tietze's Syndrome
  Togaviridae Infections  Tolosa-Hunt Syndrome
  Tourette Syndrome
  Uveomeningoencephalitic Syndrome
  Waardenburg's Syndrome  Wegener Granulomatosis
  Weil Disease  Werner Syndrome
  Williams Syndrome  Wilms Tumor
  Wolff-Parkinson-White Syndrome  Wolfram Syndrome
  Wolman Disease
  Zellweger Syndrome  Zollinger-Ellison Syndrome
  von Willebrand Diseases
Prevalencia das doenças raras

Medicamentos orfaos
São medicamentos especificos para uma determinada doença rara



Urgencias nas doenças raras
http://www.orpha.net/consor/cgi-bin/Disease_Emergency.php?lng=EN
Jornais electrónicos – doenças raras

Doenças genéticas - textos

Lista de doenças genéticas









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