Condiciones contempladas por la Dra. Rachael

Incluidas actualmente Bajo consideración No incluidas
Crohn's Disease Pyoderma gangrenosum Great vessels transposition
Acromegaly Cystinosis Proteus syndrome
Lyme Disease Lowe syndrome Neurofibromatosis
Meningitis Kennedy Disease Monoclonal Gammopathy of Undetermined Significance
Porphyria Dermatomyositis Freiberg's Disease
Dercum's Disease Variegate Porphyria
Multiple Sclerosis Empty Sella Syndrome
Neuromyelitis Optica (Devic Disease) Familial Adenomatous Polyposis
Pulmonary Arterial Hypertension Ewing Sarcoma
Hemophilia Stargardt disease
Guillain-Barre syndrome Rubinstein-Taybi syndrome
Madelung’s disease Wilson disease
Marfan syndrome Myotonic Dystrophy
Parsonage Turner Syndrome Nemaline Myopathy
Congenital Contractural Arachnodactyly Acidemia Isovaleric
Addison’s Disease Hypokalemic periodic paralysis
Ramsay Hunt Syndrome Emery Dreifuss Muscular Dystrophy
Tay-Sachs Disease Ataxia Telangiectasia
Sandhoff Disease Okihiro syndrome
Kufs Disease Pyknodysostosis
Kawasaki Disease Osteopetrosis
Toxic Shock Syndrome Lewis-Sumner syndrome
Wegener’s Granulomatosis Anemia, Hemolytic, Cold Antibody
Goodpasture Syndrome Jansky-Bielschowsky disease
Cushing Syndrome Sarcoidosis
Mitral Valve Prolapse Syndrome Plasma cell leukemia
Myasthenia Gravis Chronic Intestinal Pseudo-Obstruction
Lambert-Eaton Myasthenic Syndrome Gastritis, Giant Hypertrophic
Reflex Sympathetic Dystrophy Syndrome Rocky Mountain Spotted Fever
Erythromelalgia Wernicke-Korsakoff Syndrome
Polycythemia Vera Human Monocytic Ehrlichiosis (HME)
Chronic Inflammatory Demyelinating Polyneuropathy Bell’s Palsy
Amyloidosis Leukodystrophy, Krabbe’s
Multiple Myeloma Beta Thalassemia
Whipple Disease Alpha Thalassemia
Osteomyelitis Glutaric Aciduria Type I
Waldenström's Macroglobulinemia Glutaric Aciduria Type II
Maple Syrup Urine Disease Astrocytoma
Balantidiasis Pelizaeus-Merzbacher disease
Propionic Acidemia Acquired immune deficiency syndrome
Methylmalonic Acidemia Nephronophthisis
Winchester Syndrome COACH syndrome
Farber’s Disease Lymphatoid granulomatosis
Moyamoya Disease Idiopathic pulmonary hemosiderosis
Sickle Cell Disease Polyarteritis nodosa
Hereditary Spherocytic Hemolytic Anemia Multifocal motor neuropathy
Restless Legs syndrome Smith-Lemli-Opitz (SLO) syndrome
Refsum Disease Multicentric osteolysis, nodulosis and arthropathy
Adrenoleukodystrophy Burkitt’s lymphoma
Metachromatic Leukodystrophy Lafora disease
Alexander Disease Type I Spondyloepiphyseal Dysplasia, Congenital
Alexander Disease Type II Dyggve Melchior Clausen syndrome
Ogilvie syndrome Chronic inflammatory demyelinating polyradiculoneuropathy
Chronic Intestinal Pseudo-obstruction Central Pain Syndrome
Achondrogenesis Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE)
Kniest Dysplasia Erythema Multiforme
Campomelic Syndrome Cole Carpenter syndrome
Hypophosphatasia Dekaban-Arima syndrome
Morquio Syndrome Chronic Myelogenous Leukemia
Osteogenesis Imperfecta Type I Meningioma
Osteogenesis Imperfecta Type II Hyperekplexia
Osteogenesis Imperfecta Type III Jumping Frenchmen of Maine
Osteogenesis Imperfecta Type IV Townes Brocks Syndrome
Mumps Nance-Horan Syndrome
Leigh Syndrome Chromosome 10, Distal Trisomy 10q
Gilbert syndrome Dominant Multiple Epiphyseal Dysplasia
Dubin Johnson Syndrome Primary Biliary Cholangitis
Crigler Najjar Syndrome Canavan disease
Babesiosis Neuropathy ataxia retinitis pigmentosa syndrome
TORCH Syndrome Bardet-Biedl Syndrome
Vogt-Koyanagi-Harada Disease Familial multiple lipomatosis
Usher Syndrome Type I Acute disseminated encephalomyelitis
Usher Syndrome Type II Schmidt syndrome
Usher Syndrome Type III Fetal alcohol syndrome
Usher Syndrome Type IV Fanconi Anemia
Alström Syndrome Pachydermoperiostosis
Retinitis Pigmentosa Cardiofaciocutaneous syndrome
Leber's Congenital Amaurosis Neurofibromatosis-Noonan syndrome
Joubert Syndrome Cyclic vomiting syndrome
Meckel Syndrome Cone dystrophy
Dubowitz Syndrome Anemia, Hereditary Nonspherocytic Hemolytic
Noonan Syndrome Zellweger Spectrum Disorders
Turner Syndrome Pseudo-Hurler Polydystrophy
Klinefelter Syndrome Ocular Motor Apraxia, Cogan Type
Kallmann Syndrome Familial Hypophosphatemia
Acoustic Neuroma Thyroid Cancer
Ménière’s Disease Chiari Malformations
Creutzfeldt Jakob Disease Ectodermal Dysplasias
Gerstmann Syndrome X-linked adrenal hypoplasia congenita
Kikuchi’s Disease Congenital adrenal hyperplasia
Hodgkin’s Disease Metatropic Dysplasia I
Köhler Disease Iris hypoplasia and glaucoma
Tarsal Tunnel syndrome Urea cycle disorders
Sweet Syndrome Primary Mitochondrial Myopathies
Schnitzler Syndrome Severe Combined Immunodeficiency
Familial Mediterranean Fever Agammaglobulinemia
Familial Cold Autoinflammatory Syndrome Rasmussen Encephalitis
Cogan-Reese Syndrome Congenital Muscular Dystrophy
Chandler’s Syndrome Mucopolysaccharidosis Type III
Essential Iris Atrophy Langer Giedion Syndrome
Rieger Syndrome
Carnosinemia
Phenylketonuria
Cerebral Palsy: Tetrahydrobiopterin Deficiency
Progressive Multifocal Leukoencephalopathy
Paget’s disease
Pallister Hall Syndrome
Aarskog Syndrome
Abetalipoproteinemia
Ablepharon-Macrostomia Syndrome
Acquired Aplastic Anemia
Aceruloplasminemia
Acidemia Isovaleric
Yellow Nail syndrome
Weil Syndrome
Adult Neuronal Ceroid Lipofuscinosis
Unverricht-Lundborg Disease
Legg Calvé Perthes Disease
Spondyloepiphyseal Dysplasia Tarda
Fitz Hugh Curtis Syndrome
Cholecystitis
Fox Fordyce Disease
Hidradenitis Suppurativa
Keratosis Follicularis
Fibrodysplasia Ossificans Progressiva
Severe Chronic Neutropenia
Lymphangioleiomyomatosis
Langerhans Cell Histiocytosis
Rosai-Dorfman Disease
Erdheim Chester Disease
Erysipelas
Essential Tremor
Q fever
Epidermolysis Bullosa
Peeling Skin Syndrome
Leber Hereditary Optic Neuropathy
Fatal Familial Insomnia
Dupuytren’s Contracture
Dravet Syndrome Spectrum
Duchenne Muscular Dystrophy
Dysautonomia, Familial
Dyskeratosis Congenita
L1 Syndrome
Lenz Microphthalmia Syndrome
Nance-Horan Syndrome
Oculo-Dento-Digital Dysplasia
Hartnup Disease
Hajdu Cheney Syndrome
Hantavirus Pulmonary Syndrome
Henoch-Schönlein Purpura
Hereditary Coproporphyria
Hermansky Pudlak Syndrome
Holt Oram Syndrome
Hyperekplexia
Hyperlipoproteinemia Type III
Hypochondroplasia
Hypohidrotic Ectodermal Dysplasia
Amyotrophic Lateral Sclerosis
Lipoprotein Lipase Deficiency
Choroideremia
Transthyretin Amyloidosis
Susac’s syndrome
Huntington disease
Urbach-Wiethe Disease
Hemochromatosis
Hemophagocytic Lymphohistiocytosis
Friedreich’s Ataxia
Mastocytosis
Bardet-Biedl Syndrome
Gaucher disease
Senior-Loken Syndrome
Muckle-Wells Syndrome
Churg-Strauss syndrome
Sennetsu Fever
Seckel Syndrome
Homocystinuria
Trisomy 13 Syndrome
Bloom Syndrome
Still’s disease
Trigeminal Neuralgia
Hailey-Hailey Disease
Charcot-Marie-Tooth Disease
Acid sphingomyelinase deficiency
Gerstmann-Sträussler-Scheinker Disease
Tumor Necrosis Factor Receptor-Associated Periodic Syndrome
Moebius syndrome
CHARGE Syndrome
Primary Sclerosing Cholangitis
Achondroplasia
Primary Myelofibrosis
Kugelberg Welander Syndrome
Oral-Facial-Digital Syndrome
Essential Thrombocythemia
Chronic Erosive Gastritis
Chronic Infantile Neurological Cutaneous Articular (CINCA) syndrome
Dejerine-Sottas disease
Human Granulocytic Ehrlichiosis (HGE)
Costello syndrome
Acute flaccid myelitis (AFM)
Klippel-Trenaunay Syndrome
Incontinentia pigmenti
Aicardi syndrome
CADASIL
Li-Fraumeni syndrome
Castleman disease
Kabuki syndrome
Cerebrotendinous xanthomatosis
Larsen syndrome
Kearns-Sayre syndrome
Cockayne syndrome
Cohen syndrome
Silver-Russell syndrome
Denys-Drash syndrome
CHILD syndrome
Waardenburg syndrome
Schinzel-Giedion syndrome
Pallister-Killian syndrome
Systemic Capillary Leak Syndrome
Acrocallosal syndrome, Schinzel type
Alpha Thalassemia X-linked Intellectual Disability Syndrome
McCune Albright syndrome
Job syndrome
Alpha-1 Antitrypsin Deficiency
Chromosome 22q11.2 Deletion Syndrome
Treacher Collins Syndrome
Tumor-induced osteomalacia
Parry Romberg Syndrome
Idiopathic Pulmonary Fibrosis
Macrophagic myofasciitis
Congenital Disorders of Glycosylation
Coffin Siris Syndrome
Brugada Syndrome
Tetralogy of Fallot
Scleroderma
Dystonia
Mantle Cell Lymphoma
Narcolepsy
Neurofibromatosis 1
Coffin-Lowry Syndrome
Hereditary Hemorrhagic Telangiectasia
Dermatitis Herpetiformis
Duodenal Atresia
Ehlers Danlos Syndromes
Hirschsprung disease
Hereditary Spherocytosis
MELAS syndrome
Lennox-Gastaut Syndrome
Fragile X Syndrome
Stickler Syndrome
Williams Syndrome
Spinal muscular atrophy
Tuberous Sclerosis
Rett syndrome
Von Hippel-Lindau Disease
Mucopolysaccharidosis
Polymyositis and Necrotizing Myopathy
Cystic fibrosis
Mevalonate Kinase Deficiency
Blau syndromes
Fabry Disease
Sialidosis
I-cell disease
Pseudo-Hurler polydystrophy
Mucolipidosis IV
Pompe disease
Marshall Syndrome
Wolf-Hirschhorn Syndrome
Diamond Blackfan Anemia
Lesch-Nyhan syndrome
Prader-Willi Syndrome
Smith-Magenis Syndrome
Angelman syndrome
Ataxia with Vitamin E Deficiency
Galactosemia
Glycogen Storage Disease Type III
Severe Chronic Neutropenia
Gastrointestinal Stromal Tumors
Multiple Endocrine Neoplasia Type 1
VACTERL association
Behçet's syndrome
Congenital central hypoventilation syndrome
Phelan-McDermid syndrome
Optic Nerve Hypoplasia
Ocular Albinism
Chediak Higashi Syndrome
Apert Syndrome
Landau Kleffner Syndrome
Trisomy 18
Beckwith-Wiedemann Syndrome
Hereditary Fructose Intolerance
Primary ciliary dyskinesia
Progressive supranuclear palsy
Juvenile CLN3 disease
Classic infantile CLN1 disease
Myotonic Dystrophy
Propionic Acidemia
Oculo-Auriculo-Vertebral Spectrum
ADNP Syndrome
Menkes Disease
POEMS syndrome


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