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 DeCS Categories

C05 Musculoskeletal Diseases .
C05.651 Muscular Diseases .
C05.651.460 Mitochondrial Myopathies .
C05.651.460.700 Ophthalmoplegia, Chronic Progressive External .
C05.651.460.700.500 Kearns-Sayre Syndrome .
C10 Nervous System Diseases .
C10.177 Autonomic Nervous System Diseases .
C10.177.350 Horner Syndrome .
C10.228 Central Nervous System Diseases .
C10.228.140 Brain Diseases .
C10.228.140.163 Brain Diseases, Metabolic .
C10.228.140.163.100 Brain Diseases, Metabolic, Inborn .
C10.228.140.163.100.640 Oculocerebrorenal Syndrome .
C10.292 Cranial Nerve Diseases .
C10.292.562 Ocular Motility Disorders .
C10.292.562.250 Duane Retraction Syndrome .
C10.292.562.750 Ophthalmoplegia .
C10.292.562.750.250 Ophthalmoplegia, Chronic Progressive External .
C10.292.562.750.250.500 Kearns-Sayre Syndrome .
C10.597 Neurologic Manifestations .
C10.597.622 Paralysis .
C10.597.622.447 Ophthalmoplegia .
C10.597.622.447.511 Ophthalmoplegia, Chronic Progressive External .
C10.597.622.447.511.500 Kearns-Sayre Syndrome .
C10.597.690 Pupil Disorders .
C10.597.690.362 Miosis .
C10.597.690.362.500 Horner Syndrome .
C10.668 Neuromuscular Diseases .
C10.668.491 Muscular Diseases .
C10.668.491.500 Mitochondrial Myopathies .
C10.668.491.500.700 Ophthalmoplegia, Chronic Progressive External .
C10.668.491.500.700.500 Kearns-Sayre Syndrome .
C11 Eye Diseases .
C11.270 Eye Diseases, Hereditary .
C11.270.235 Duane Retraction Syndrome .
C11.590 Ocular Motility Disorders .
C11.590.224 Duane Retraction Syndrome .
C11.590.472 Ophthalmoplegia .
C11.590.472.250 Ophthalmoplegia, Chronic Progressive External .
C11.590.472.250.500 Kearns-Sayre Syndrome .
C11.710 Pupil Disorders .
C11.710.528 Miosis .
C11.710.528.500 Horner Syndrome .
C11.768 Retinal Diseases .
C11.768.585 Retinal Degeneration .
C11.768.585.658 Retinal Dystrophies .
C11.768.585.658.500 Retinitis Pigmentosa .
C11.768.585.658.500.627 Kearns-Sayre Syndrome .
C12 Male Urogenital Diseases .
C12.777 Urologic Diseases .
C12.777.419 Kidney Diseases .
C12.777.419.815 Renal Tubular Transport, Inborn Errors .
C12.777.419.815.720 Oculocerebrorenal Syndrome .
C13 Female Urogenital Diseases and Pregnancy Complications .
C13.351 Female Urogenital Diseases .
C13.351.968 Urologic Diseases .
C13.351.968.419 Kidney Diseases .
C13.351.968.419.815 Renal Tubular Transport, Inborn Errors .
C13.351.968.419.815.720 Oculocerebrorenal Syndrome .
C14 Cardiovascular Diseases .
C14.280 Heart Diseases .
C14.280.238 Cardiomyopathies .
C14.280.238.510 Kearns-Sayre Syndrome .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.131 Congenital Abnormalities .
C16.131.077 Abnormalities, Multiple .
C16.131.077.662 Oculocerebrorenal Syndrome .
C16.320 Genetic Diseases, Inborn .
C16.320.290 Eye Diseases, Hereditary .
C16.320.290.235 Duane Retraction Syndrome .
C16.320.322 Genetic Diseases, X-Linked .
C16.320.322.750 Oculocerebrorenal Syndrome .
C16.320.565 Metabolism, Inborn Errors .
C16.320.565.151 Amino Acid Transport Disorders, Inborn .
C16.320.565.151.600 Oculocerebrorenal Syndrome .
C16.320.565.189 Brain Diseases, Metabolic, Inborn .
C16.320.565.189.640 Oculocerebrorenal Syndrome .
C16.320.565.861 Renal Tubular Transport, Inborn Errors .
C16.320.565.861.750 Oculocerebrorenal Syndrome .
C16.320.709 Oculocerebrorenal Syndrome .
C18 Nutritional and Metabolic Diseases .
C18.452 Metabolic Diseases .
C18.452.132 Brain Diseases, Metabolic .
C18.452.132.100 Brain Diseases, Metabolic, Inborn .
C18.452.132.100.640 Oculocerebrorenal Syndrome .
C18.452.648 Metabolism, Inborn Errors .
C18.452.648.151 Amino Acid Transport Disorders, Inborn .
C18.452.648.151.600 Oculocerebrorenal Syndrome .
C18.452.648.189 Brain Diseases, Metabolic, Inborn .
C18.452.648.189.640 Oculocerebrorenal Syndrome .
C18.452.648.861 Renal Tubular Transport, Inborn Errors .
C18.452.648.861.750 Oculocerebrorenal Syndrome .
C18.452.660 Mitochondrial Diseases .
C18.452.660.410 Kearns-Sayre Syndrome .
C18.452.660.560 Mitochondrial Myopathies .
C18.452.660.560.700 Ophthalmoplegia, Chronic Progressive External .
C18.452.660.560.700.500 Kearns-Sayre Syndrome .
C23 Pathological Conditions, Signs and Symptoms .
C23.550 Pathologic Processes .
C23.550.288 Disease .
C23.550.288.500 Syndrome .
C23.888 Signs and Symptoms .
C23.888.592 Neurologic Manifestations .
C23.888.592.636 Paralysis .
C23.888.592.636.447 Ophthalmoplegia .
C23.888.592.636.447.511 Ophthalmoplegia, Chronic Progressive External .
C23.888.592.636.447.511.500 Kearns-Sayre Syndrome .
C23.888.592.708 Pupil Disorders .
C23.888.592.708.362 Miosis .
C23.888.592.708.362.500 Horner Syndrome .
 
 Terms
 Synonyms & Historicals
Documents
LILACS e MDL
 
Horner Syndrome .
Bernard's Syndrome .
Claude Bernard-Horner Syndrome .
Horner Syndrome, Acquired .
Horner Syndrome, Central .
Horner's Syndrome, Pupil .
Ophthalmoplegia, Sympathetic Ocular .
Ptosis Sympathetic .
Sympathetic Ocular-Ophthalmoplegia .
Acquired Horner Syndrome .
Bernard Syndromes .
Bernards Syndrome .
Central Horner Syndrome .
Claude Bernard Horner Syndrome .
Horner Syndrome, Pupil .
Horners Syndrome .
Horners Syndrome, Pupil .
Ocular Ophthalmoplegia, Sympathetic .
Ocular Ophthalmoplegias, Sympathetic .
Ocular-Ophthalmoplegia, Sympathetic .
Ocular-Ophthalmoplegias, Sympathetic .
Oculosympathetic Syndromes .
Ophthalmoplegias, Sympathetic Ocular .
Pupil Horner's Syndrome .
Sympathetic Ocular Ophthalmoplegia .
Sympathetic Ocular Ophthalmoplegias .
Sympathetic Ocular-Ophthalmoplegias .
Syndrome, Acquired Horner .
Syndrome, Bernard .
Syndrome, Bernard's .
Syndrome, Central Horner .
Syndrome, Claude Bernard-Horner .
Syndrome, Horner .
Syndrome, Horner's .
Syndrome, Oculosympathetic .
Syndrome, Pupil Horner's .
Syndromes, Bernard .
Syndromes, Oculosympathetic .
Bernard Syndrome .
Horner's Syndrome .
Miosis, Innervational Defect .
Oculosympathetic Syndrome .
BERNARD'S SYNDROME .
A syndrome associated with defective sympathetic innervation to one side of the face, including the eye. Clinical features include MIOSIS; mild BLEPHAROPTOSIS; and hemifacial ANHIDROSIS (decreased sweating)(see HYPOHIDROSIS). Lesions of the BRAIN STEM; cervical SPINAL CORD; first thoracic nerve root; apex of the LUNG; CAROTID ARTERY; CAVERNOUS SINUS; and apex of the ORBIT may cause this condition. (From Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp500-11) .
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Kearns-Sayre Syndrome .
CPEO with Myopathy .
CPEO with Ragged Red Fibers .
Chronic Progressive External Ophthalmoplegia with Myopathy .
Cpeo With Ragged-Red Fibers .
Kearn-Sayre Mitochondrial Cytopathy .
Kearns Sayre Syndrome .
Kearns' Syndrome .
Kearns-Sayre Mitochondrial Cytopathy .
Kearns-Sayre-Shy-Daroff Syndrome .
Oculocraniosomatic Syndrome .
Ophthalmoplegia Plus Syndrome .
Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy .
Ophthalmoplegia, Progressive External, With Ragged-Red Fibers .
Ophthalmoplegia-Plus Syndrome .
CPEO with Myopathies .
Cytopathy, Kearn-Sayre Mitochondrial .
Kearn Sayre Mitochondrial Cytopathy .
Kearn Syndrome .
Kearns Sayre Shy Daroff Syndrome .
Mitochondrial Cytopathy, Kearn-Sayre .
Myopathies, CPEO with .
Myopathy, CPEO with .
Oculocraniosomatic Syndromes .
Ophthalmoplegia Plus Syndromes .
Sayre Syndrome, Kearns .
Syndrome, Kearns .
Syndrome, Kearns Sayre .
Syndrome, Kearns' .
Syndrome, Kearns-Sayre .
Syndrome, Kearns-Sayre-Shy-Daroff .
Syndrome, Oculocraniosomatic .
Syndrome, Ophthalmoplegia Plus .
Kearns Syndrome .
Kearns-Sayer Syndrome .
KEARNS-SAYRE-SHY-DAROFF SYNDROME .
A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984) .
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Oculocerebrorenal Syndrome .
Cerebro-Oculo-Renal Syndrome .
Lowe Disease .
Lowe Oculocerebrorenal Syndrome .
Lowe-Bickel Syndrome .
Lowe-Terrey-MacLachlan Syndrome .
Oculocerebrorenal Dystrophy .
Oculocerebrorenal Syndrome of Lowe .
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency .
Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency .
Renal-Oculocerebrodystrophy .
Cerebro Oculo Renal Syndrome .
Deficiency, Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase .
Dystrophy, Oculocerebrorenal .
Lowe Bickel Syndrome .
Lowe Terrey MacLachlan Syndrome .
Phosphatidylinositol 4,5 Bisphosphate 5 Phosphatase Deficiency .
Renal Oculocerebrodystrophy .
Lowe Syndrome .
Cerebrooculorenal Syndrome .
A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8) .
0.57
 
Syndrome .
Symptom Cluster .
Cluster, Symptom .
Clusters, Symptom .
Symptom Clusters .
Syndromes .
A characteristic symptom complex. .
0.55
 
Duane Retraction Syndrome .
Acrorenoocular Syndrome .
Co-Contractive Retraction Syndrome .
Duane Anomaly .
Duane Anomaly with Radial Abnormalities and Deafness .
Duane Anomaly with Radial Ray Abnormalities and Deafness .
Duane Anomaly, Isolated .
Duane Retraction Syndrome 1 .
Duane Retraction Syndrome 2 .
Duane Retraction Syndrome, Type 1 .
Duane Retraction Syndrome, Type 2 .
Duane Retraction Syndrome, Type 3 .
Duane's Syndrome .
Duane-Radial Ray Syndrome .
Isolated Duane Retraction Syndrome .
Okihiro Syndrome .
Retraction Syndrome .
Stilling-Turk-Duane Syndrome .
Type 1 Duane Retraction Syndrome .
Type 2 Duane Retraction Syndrome .
Type 3 Duane Retraction Syndrome .
Acrorenoocular Syndromes .
Anomalies, Isolated Duane .
Anomaly, Duane .
Anomaly, Isolated Duane .
Co Contractive Retraction Syndrome .
Co-Contractive Retraction Syndromes .
Duane Anomalies, Isolated .
Duane Radial Ray Syndrome .
Duanes Syndrome .
Isolated Duane Anomalies .
Isolated Duane Anomaly .
Ocular Retraction Syndromes .
Retraction Syndrome, Co-Contractive .
Retraction Syndrome, Duane .
Retraction Syndrome, Ocular .
Retraction Syndromes .
Retraction Syndromes, Co-Contractive .
Retraction Syndromes, Ocular .
Stilling Turk Duane Syndrome .
Stilling-Turk-Duane Syndromes .
Syndrome, Acrorenoocular .
Syndrome, Co-Contractive Retraction .
Syndrome, Duane .
Syndrome, Duane Retraction .
Syndrome, Duane's .
Syndrome, Duane-Radial Ray .
Syndrome, Ocular Retraction .
Syndrome, Okihiro .
Syndrome, Retraction .
Syndrome, Stilling-Turk-Duane .
Syndromes, Acrorenoocular .
Syndromes, Co-Contractive Retraction .
Syndromes, Ocular Retraction .
Syndromes, Retraction .
Syndromes, Stilling-Turk-Duane .
Duane Syndrome .
Ocular Retraction Syndrome .
DUANE'S SYNDROME .
A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE. .
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