Condiciones contempladas por la Dra. Rachael

Incluidas actualmente (600) Bajo consideración (550) No incluidas (52)
Crohn's Disease Great vessels transposition
Acromegaly Proteus syndrome
Lyme Disease Neurofibromatosis
Meningitis Monoclonal Gammopathy of Undetermined Significance
Porphyria Oculocutaneous albinism
Dercum's Disease streptococci
Multiple Sclerosis Meyer Dysplasia
Neuromyelitis Optica (Devic Disease) Staphylococci
Pulmonary Arterial Hypertension Fitzsimmons Walson Mellor syndrome
Hemophilia Fibrochondrogenesis
Guillain-Barre syndrome pneumococci
Madelung’s disease astroblastoma
Marfan syndrome Actinic lichen planus
Parsonage Turner Syndrome Aldred syndrome
Congenital Contractural Arachnodactyly Ameloblastoma
Addison’s Disease Apocrine carcinoma
Ramsay Hunt Syndrome Boudhina Yedes Khiari syndrome
Tay-Sachs Disease Calvarial hiperostosis
Sandhoff Disease Chancroid
Kufs Disease Hydrops fetalis
Kawasaki Disease Nodding syndrome
Toxic Shock Syndrome Papilledema
Wegener’s Granulomatosis Renal oncocytoma
Goodpasture Syndrome Somatostatinoma
Cushing Syndrome Familial streblodactyly
Mitral Valve Prolapse Syndrome Cartwright Nelson Fryns syndrome
Myasthenia Gravis Angiomyomatous Hamartoma
Lambert-Eaton Myasthenic Syndrome Diphallia
Reflex Sympathetic Dystrophy Syndrome Duplication of leg mirror foot
Erythromelalgia Pheochromocytoma
Polycythemia Vera Pinta
Chronic Inflammatory Demyelinating Polyneuropathy Kleiner Holmes syndrome
Amyloidosis Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities
Multiple Myeloma Potato nose
Whipple Disease Sialadenitis
Osteomyelitis Sitosterolemia
Waldenström's Macroglobulinemia Cicatricial Alopecia
Maple Syrup Urine Disease Oslam syndrome
Balantidiasis Renoprival hypertension
Propionic Acidemia Tetanus
Methylmalonic Acidemia Histidinemia
Winchester Syndrome Dwarfism Levi type
Farber’s Disease Dystelephalangy
Moyamoya Disease Scurvy
Sickle Cell Disease Breast cancer, familial
Hereditary Spherocytic Hemolytic Anemia Stargardt disease
Restless Legs syndrome Alopecia Areata
Refsum Disease Melanoma, familial
Adrenoleukodystrophy Diaphragmatic hernia, congenital
Metachromatic Leukodystrophy Oesophageal atresia
Alexander Disease Type I Familial adenomatous polyposis
Alexander Disease Type II
Ogilvie syndrome
Chronic Intestinal Pseudo-obstruction
Achondrogenesis
Kniest Dysplasia
Campomelic Syndrome
Hypophosphatasia
Morquio Syndrome
Osteogenesis Imperfecta Type I
Osteogenesis Imperfecta Type II
Osteogenesis Imperfecta Type III
Osteogenesis Imperfecta Type IV
Mumps
Leigh Syndrome
Gilbert syndrome
Dubin Johnson Syndrome
Crigler Najjar Syndrome
Babesiosis
TORCH Syndrome
Vogt-Koyanagi-Harada Disease
Usher Syndrome Type I
Usher Syndrome Type II
Usher Syndrome Type III
Usher Syndrome Type IV
Alström Syndrome
Retinitis Pigmentosa
Leber's Congenital Amaurosis
Joubert Syndrome
Meckel Syndrome
Dubowitz Syndrome
Noonan Syndrome
Turner Syndrome
Klinefelter Syndrome
Kallmann Syndrome
Acoustic Neuroma
Ménière’s Disease
Creutzfeldt Jakob Disease
Gerstmann Syndrome
Kikuchi’s Disease
Hodgkin’s Disease
Köhler Disease
Tarsal Tunnel syndrome
Sweet Syndrome
Schnitzler Syndrome
Familial Mediterranean Fever
Familial Cold Autoinflammatory Syndrome
Cogan-Reese Syndrome
Chandler’s Syndrome
Essential Iris Atrophy
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
Pyoderma gangrenosum
Cystinosis
Lowe syndrome
Kennedy Disease
Dermatomyositis
Variegate Porphyria
Empty Sella Syndrome
Familial Adenomatous Polyposis
Ewing Sarcoma
Stargardt disease
Rubinstein-Taybi syndrome
Wilson disease
Biotinidase deficiency
Nemaline Myopathy
Cryptococcosis
Hypokalemic periodic paralysis
Emery Dreifuss Muscular Dystrophy
Ataxia Telangiectasia
Okihiro syndrome
Pyknodysostosis
Osteopetrosis
Lewis-Sumner syndrome
Anemia, Hemolytic, Cold Antibody
Jansky-Bielschowsky disease
Sarcoidosis
Plasma cell leukemia
Freeman-Sheldon syndrome
Gastritis, Giant Hypertrophic
Rocky Mountain Spotted Fever
Wernicke-Korsakoff Syndrome
Human Monocytic Ehrlichiosis (HME)
Bell’s Palsy
Leukodystrophy, Krabbe’s
Beta Thalassemia
Alpha Thalassemia
Glutaric Aciduria Type I
Glutaric Aciduria Type II
Astrocytoma
Pelizaeus-Merzbacher disease
Acquired immune deficiency syndrome
Nephronophthisis
COACH syndrome
Lymphatoid granulomatosis
Idiopathic pulmonary hemosiderosis
Polyarteritis nodosa
Multifocal motor neuropathy
Smith-Lemli-Opitz (SLO) syndrome
Multicentric osteolysis, nodulosis and arthropathy
Burkitt’s lymphoma
Lafora disease
Spondyloepiphyseal Dysplasia, Congenital
Dyggve Melchior Clausen syndrome
Chronic inflammatory demyelinating polyradiculoneuropathy
Central Pain Syndrome
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE)
Erythema Multiforme
Cole Carpenter syndrome
Dekaban-Arima syndrome
Chronic Myelogenous Leukemia
Meningioma
Frontotemporal dementia
Jumping Frenchmen of Maine
Townes Brocks Syndrome
Ivemark syndrome
Chromosome 10, Distal Trisomy 10q
Dominant Multiple Epiphyseal Dysplasia
Primary Biliary Cholangitis
Canavan disease
Neuropathy ataxia retinitis pigmentosa syndrome
Hereditary Neuralgic Amyotrophy
Familial multiple lipomatosis
Acute disseminated encephalomyelitis
Schmidt syndrome
Fetal alcohol syndrome
Fanconi Anemia
Pachydermoperiostosis
Cardiofaciocutaneous syndrome
Neurofibromatosis-Noonan syndrome
Cyclic vomiting syndrome
Cone dystrophy
Anemia, Hereditary Nonspherocytic Hemolytic
Zellweger Spectrum Disorders
Eosinophilic Fasciitis
Ocular Motor Apraxia, Cogan Type
Familial Hypophosphatemia
Thyroid Cancer
Chiari Malformations
Ectodermal Dysplasias
X-linked adrenal hypoplasia congenita
Congenital adrenal hyperplasia
Psittacosis
Iris hypoplasia and glaucoma
Urea cycle disorders
Primary Mitochondrial Myopathies
Severe Combined Immunodeficiency
Agammaglobulinemia
Rasmussen Encephalitis
Congenital Muscular Dystrophy
Mucopolysaccharidosis Type III
Langer Giedion Syndrome
Alkaptonuria
Nakajo syndrome
Osteosarcoma
hypereosinophilic syndrome
Blastomycosis
Lichtenstein syndrome
Cherubism
Insulinoma
Madelung deformity
Bassoe syndrome
Acromicric dysplasia
Tetraploidy
Syringomyelia
Swyer syndrome
Acrodysostosis
Anorchia
Atransferrinemia
Barakat syndrome
Cysticercosis
Cystinuria
Danon disease
Darier disease
Desmoid tumor
Dirofilariasis
DOOR syndrome
Feingold syndrome
Flynn Aird syndrome
Frasier syndrome
Frias syndrome
Fucosidosis
Wagner syndrome
Warfarin syndrome
West syndrome
Mycetoma
Muenke Syndrome
Micro syndrome
Martsolf syndrome
Kanzaki disease
Griscelli syndrome
Dravet syndrome
Diencephalic syndrome
Dent disease
Dengue fever
Cyclic neutropenia
Cutis marmorata telangiectatica congenita
Cutis laxa
Takayasu arteritis
TAR syndrome
Tangier disease
Piebaldism
Perrault syndrome
Pearson syndrome
Ollier disease
Oliver syndrome
Norrie disease
Mullerian aplasia
Mulibrey Nanism
Milroy disease
Miller syndrome
Microscopic polyangiitis
Metatropic dysplasia
Malakoplakia
Listeria infection
LEOPARD syndrome
Jeune syndrome
Hypothalamic hamartomas
Hypomelanosis of Ito
Heavy metal poisoning
Gomez Lopez Hernandez syndrome
Gitelman syndrome
Kyphomelic dysplasia
Rhizomelic chondrodysplasia punctata
Free sialic acid storage disease
Frontonasal dysplasia
Aagenaes syndrome
Acrodermatitis enteropathica
Adie syndrome
Lujan syndrome
Dysferlinopathy
Björnstad Syndrome
Fraser Syndrome
Genoa syndrome
Krabbe disease
Harding ataxia
Wagner syndrome
IRVAN syndrome
Buerger’s Disease
Mevalonic aciduria
Cat scratch disease
Evans Syndrome
Neu Laxova Syndrome
Antley-Bixler Syndrome
Felty Syndrome
Filippi Syndrome
Hemi 3 syndrome
Pachygyria
Degos disease
Rubella, Congenital
Botulism
Tyrosine Hydroxylase Deficiency
Hereditary Angioedema
Non-24-Hour Sleep-Wake Disorder
Barth syndrome
Kaposi sarcoma
Sturge-Weber Syndrome
Keratoconus
Catel-Manzke syndrome
Arthrogryposis Multiplex Congenita
Spinal Muscular Atrophy with Respiratory Distress
Duane syndrome
Limb-Girdle Muscular Distrophies
Alternating Hemiplegia of Childhood
Filippi syndrome
Focal dermal hipoplasia
Fountain syndrome
Hydranencephaly
IgA nephropathy
Inclusion body myositis
Melkersson-Rosenthal syndrome
Glanzmann Thrombasthenia
Nakajo-Nishimura syndrome
Ichthyosis, Netherton Syndrome
Simian B Virus Infection
Primary Visual Agnosia
Caudal Regression Syndrome
Graves’ Disease
Blue diaper syndrome
Fryns Syndrome
Hanhart syndrome
Antiphospholipid syndrome
Sutton Disease II
Physical Allergy Urticaria
Snyder-Robinson Syndrome
Sotos syndrome
Meige Syndrome
Banti’s Syndrome
Bowenoid Papulosis
Brown Syndrome
Seatworm Infection
Fascioliasis
Meleda Disease
Mikulicz Syndrome
Optic Nerve Papillitis
Papillon-Lefèvre Syndrome
Poland Syndrome
Potter syndrome
Proctitis
Pyruvate Kinase Deficiency
Radiation Sickness
Reye Syndrome
Renal Glycosuria
Adenylosuccinase deficiency
Alport syndrome
Bronchiolitis Obliterans Organizing Pneumonia
Cantu syndrome
Carney triad
Neonatal progeroid syndrome
Peutz-Jeghers syndrome
Retinoschisis
Kernicterus
Growth Hormone Insensitivity
Sporadic Porencephaly
Nail-patella Syndrome
Transverse Myelitis
Retroperitoneal Fibrosis
Fibrosing Mediastinitis
Alagille Syndrome
Tarlov Cysts
Pityriasis Rubra Pilaris
Erythrokeratoderma
Hereditary mucoepithelial dysplasia
Emanuel syndrome
Central Core Disease
Gastroparesis
Acute disseminated encephalomyelitis
Chronic lymphocytic leukemia
Riboflavin Transporter Deficiency
Nonketotic Hyperglycinemia
Hydrocephalus
Congenital Generalized Lipodystrophy
Bartonellosis
Acquired Lipodystrophy
Ulcerative Colitis
Infective Endocarditis
Leptospirosis
Systemic Scleroderma
Hallermann Streiff Syndrome
Freiberg’s Disease
Smith Lemli Opitz Syndrome
Dandy-Walker Malformation
Familial Hypophosphatemia
Corticobasal Degeneration
Rabson-Mendenhall Syndrome
Obesity due to congenital leptin deficiency
Psoriatic juvenile idiopathic arthritis
Thoracic Outlet Syndrome
Leri Pleonosteosis
Chromosome 14 Ring
Vitamin D Deficiency Rickets
Short Bowel Syndrome


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