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 DeCS Categories

C02 Virus Diseases .
C02.256 DNA Virus Infections .
C02.256.466 Herpesviridae Infections .
C02.256.466.930 Varicella Zoster Virus Infection .
C02.256.466.930.750 Herpes Zoster .
C05 Musculoskeletal Diseases .
C05.116 Bone Diseases .
C05.116.099 Bone Diseases, Developmental .
C05.116.099.370 Dysostoses .
C05.116.099.370.380 Focal Dermal Hypoplasia .
C10 Nervous System Diseases .
C10.228 Central Nervous System Diseases .
C10.228.140 Brain Diseases .
C10.228.140.163 Brain Diseases, Metabolic .
C10. Brain Diseases, Metabolic, Inborn .
C10. Hereditary Central Nervous System Demyelinating Diseases .
C10. Pelizaeus-Merzbacher Disease .
C10. Lesch-Nyhan Syndrome .
C10. Menkes Kinky Hair Syndrome .
C10.228.140.490 Epilepsy .
C10.228.140.490.375 Epilepsy, Generalized .
C10.228.140.490.375.130 Epilepsies, Myoclonic .
C10.228.140.490.375.130.650 Myoclonic Epilepsies, Progressive .
C10.228.140.490.375.130.650.900 Unverricht-Lundborg Syndrome .
C10.228.140.490.375.760 Spasms, Infantile .
C10.228.140.490.493 Epileptic Syndromes .
C10.228.140.490.493.063 Epilepsies, Myoclonic .
C10.228.140.490.493.063.650 Myoclonic Epilepsies, Progressive .
C10.228.140.490.493.063.650.900 Unverricht-Lundborg Syndrome .
C10.228.140.490.493.875 Spasms, Infantile .
C10.228.140.695 Leukoencephalopathies .
C10.228.140.695.625 Hereditary Central Nervous System Demyelinating Diseases .
C10.228.140.695.625.775 Pelizaeus-Merzbacher Disease .
C10.314 Demyelinating Diseases .
C10.314.400 Hereditary Central Nervous System Demyelinating Diseases .
C10.314.400.775 Pelizaeus-Merzbacher Disease .
C10.574 Neurodegenerative Diseases .
C10.574.500 Heredodegenerative Disorders, Nervous System .
C10.574.500.875 Unverricht-Lundborg Syndrome .
C10.597 Neurologic Manifestations .
C10.597.606 Neurobehavioral Manifestations .
C10.597.606.643 Intellectual Disability .
C10.597.606.643.455 Mental Retardation, X-Linked .
C10.597.606.643.455.625 Lesch-Nyhan Syndrome .
C10.597.606.643.455.687 Menkes Kinky Hair Syndrome .
C11 Eye Diseases .
C11.525 Ocular Hypertension .
C11.525.381 Glaucoma .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.131 Congenital Abnormalities .
C16.131.077 Abnormalities, Multiple .
C16.131.077.350 Ectodermal Dysplasia .
C16.131.077.350.424 Focal Dermal Hypoplasia .
C16.131.831 Skin Abnormalities .
C16.131.831.350 Ectodermal Dysplasia .
C16.131.831.350.424 Focal Dermal Hypoplasia .
C16.320 Genetic Diseases, Inborn .
C16.320.322 Genetic Diseases, X-Linked .
C16.320.322.186 Focal Dermal Hypoplasia .
C16.320.322.500 Mental Retardation, X-Linked .
C16.320.322.500.625 Lesch-Nyhan Syndrome .
C16.320.322.500.687 Menkes Kinky Hair Syndrome .
C16.320.322.906 Pelizaeus-Merzbacher Disease .
C16.320.400 Heredodegenerative Disorders, Nervous System .
C16.320.400.525 Mental Retardation, X-Linked .
C16.320.400.525.625 Lesch-Nyhan Syndrome .
C16.320.400.525.687 Menkes Kinky Hair Syndrome .
C16.320.400.940 Unverricht-Lundborg Syndrome .
C16.320.565 Metabolism, Inborn Errors .
C16.320.565.189 Brain Diseases, Metabolic, Inborn .
C16.320.565.189.362 Hereditary Central Nervous System Demyelinating Diseases .
C16.320.565.189.362.775 Pelizaeus-Merzbacher Disease .
C16.320.565.189.425 Lesch-Nyhan Syndrome .
C16.320.565.189.540 Menkes Kinky Hair Syndrome .
C16.320.565.618 Metal Metabolism, Inborn Errors .
C16.320.565.618.590 Menkes Kinky Hair Syndrome .
C16.320.565.798 Purine-Pyrimidine Metabolism, Inborn Errors .
C16.320.565.798.594 Lesch-Nyhan Syndrome .
C16.320.850 Skin Diseases, Genetic .
C16.320.850.250 Ectodermal Dysplasia .
C16.320.850.250.424 Focal Dermal Hypoplasia .
C17 Skin and Connective Tissue Diseases .
C17.800 Skin Diseases .
C17.800.329 Hair Diseases .
C17.800.329.968 Menkes Kinky Hair Syndrome .
C17.800.804 Skin Abnormalities .
C17.800.804.350 Ectodermal Dysplasia .
C17.800.804.350.424 Focal Dermal Hypoplasia .
C17.800.827 Skin Diseases, Genetic .
C17.800.827.250 Ectodermal Dysplasia .
C17.800.827.250.424 Focal Dermal Hypoplasia .
C18 Nutritional and Metabolic Diseases .
C18.452 Metabolic Diseases .
C18.452.132 Brain Diseases, Metabolic .
C18.452.132.100 Brain Diseases, Metabolic, Inborn .
C18.452.132.100.362 Hereditary Central Nervous System Demyelinating Diseases .
C18.452.132.100.362.775 Pelizaeus-Merzbacher Disease .
C18.452.132.100.425 Lesch-Nyhan Syndrome .
C18.452.132.100.540 Menkes Kinky Hair Syndrome .
C18.452.648 Metabolism, Inborn Errors .
C18.452.648.189 Brain Diseases, Metabolic, Inborn .
C18.452.648.189.362 Hereditary Central Nervous System Demyelinating Diseases .
C18.452.648.189.362.775 Pelizaeus-Merzbacher Disease .
C18.452.648.189.425 Lesch-Nyhan Syndrome .
C18.452.648.189.540 Menkes Kinky Hair Syndrome .
C18.452.648.618 Metal Metabolism, Inborn Errors .
C18.452.648.618.590 Menkes Kinky Hair Syndrome .
C18.452.648.798 Purine-Pyrimidine Metabolism, Inborn Errors .
C18.452.648.798.594 Lesch-Nyhan Syndrome .
F04 Behavioral Disciplines and Activities .
F04.754 Psychotherapy .
F04.754.360 Gestalt Therapy .
M01 Persons .
M01.526 Occupational Groups .
M01.526.485 Health Personnel .
M01.526.485.810 Physicians .
M01.526.485.810.955 Urologists .
N02 Health Care Facilities, Manpower, and Services .
N02.360 Health Personnel .
N02.360.810 Physicians .
N02.360.810.955 Urologists .
 Synonyms & Historicals
Lesch-Nyhan Syndrome .
Choreoathetosis Self-Mutilation Syndrome .
Complete HGPRT Deficiency Disease .
Complete HPRT Deficiency .
Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency .
Deficiency Disease, Complete HGPRT .
Deficiency Disease, Hypoxanthine-Phosphoribosyl-Transferase .
Deficiency of Guanine Phosphoribosyltransferase .
Deficiency of Hypoxanthine Phosphoribosyltransferase .
HGPRT Deficiency .
HGPRT Deficiency Disease, Complete .
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency .
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency .
Hypoxanthine Phosphoribosyltransferase Deficiency .
Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome .
Juvenile Hyperuricemia Syndrome .
Lesch-Nyhan Disease .
Primary Hyperuricemia Syndrome .
Total HPRT Deficiency .
Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency .
X-Linked Hyperuricemia .
X-Linked Primary Hyperuricemia .
Choreoathetosis Self Mutilation Hyperuricemia Syndrome .
Choreoathetosis Self Mutilation Syndrome .
Choreoathetosis Self-Mutilation Syndromes .
Complete HPRT Deficiencies .
Complete Hypoxanthine Guanine Phosphoribosyltransferase Deficiency .
Deficiencies, Complete HPRT .
Deficiencies, HGPRT .
Deficiencies, Hypoxanthine Phosphoribosyltransferase .
Deficiencies, Total HPRT .
Deficiency Disease, Hypoxanthine Phosphoribosyl Transferase .
Deficiency Diseases, Hypoxanthine-Phosphoribosyl-Transferase .
Deficiency, Complete HPRT .
Deficiency, HGPRT .
Deficiency, Hypoxanthine Phosphoribosyltransferase .
Deficiency, Total HPRT .
Guanine Phosphoribosyltransferase Deficiencies .
Guanine Phosphoribosyltransferase Deficiency .
HGPRT Deficiencies .
HPRT Deficiencies, Complete .
HPRT Deficiencies, Total .
HPRT Deficiency, Complete .
HPRT Deficiency, Total .
Hyperuricemia Syndrome, Juvenile .
Hyperuricemia Syndrome, Primary .
Hyperuricemia Syndromes, Juvenile .
Hyperuricemia Syndromes, Primary .
Hyperuricemia, X-Linked .
Hyperuricemia, X-Linked Primary .
Hyperuricemias, X-Linked .
Hyperuricemias, X-Linked Primary .
Hypoxanthine Phosphoribosyl Transferase Deficiency Disease .
Hypoxanthine Phosphoribosyltransferase Deficiencies .
Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases .
Juvenile Hyperuricemia Syndromes .
Lesch Nyhan Disease .
Lesch Nyhan Syndrome .
Phosphoribosyltransferase Deficiencies, Guanine .
Phosphoribosyltransferase Deficiencies, Hypoxanthine .
Phosphoribosyltransferase Deficiency, Guanine .
Phosphoribosyltransferase Deficiency, Hypoxanthine .
Primary Hyperuricemia Syndromes .
Primary Hyperuricemia, X-Linked .
Primary Hyperuricemias, X-Linked .
Self-Mutilation Syndrome, Choreoathetosis .
Self-Mutilation Syndromes, Choreoathetosis .
Syndrome, Choreoathetosis Self-Mutilation .
Syndrome, Juvenile Hyperuricemia .
Syndrome, Primary Hyperuricemia .
Syndromes, Choreoathetosis Self-Mutilation .
Syndromes, Juvenile Hyperuricemia .
Syndromes, Primary Hyperuricemia .
Total HPRT Deficiencies .
Total Hypoxanthine Guanine Phosphoribosyl Transferase Deficiency .
X Linked Hyperuricemia .
X Linked Primary Hyperuricemia .
X-Linked Hyperuricemias .
X-Linked Primary Hyperuricemias .
Choreoathetosis Self-Mutilation Hyperuricemia Syndrome .
Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease .
An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127) .
Spasms, Infantile .
Cryptogenic West Syndrome .
Lightning Attacks .
Salaam Attacks .
Symptomatic West Syndrome .
Attack, Lightning .
Attacks, Lightning .
Attacks, Salaam .
Cryptogenic Infantile Spasm .
Hypsarrhythmias .
Infantile Spasm .
Infantile Spasm, Cryptogenic .
Infantile Spasm, Symptomatic .
Infantile Spasms, Cryptogenic .
Infantile Spasms, Symptomatic .
Jackknife Seizure .
Lightning Attack .
Nodding Spasms .
Seizure, Jackknife .
Seizures, Jackknife .
Seizures, Salaam .
Spasm, Cryptogenic Infantile .
Spasm, Nodding .
Spasm, Symptomatic Infantile .
Spasms, Cryptogenic Infantile .
Spasms, Nodding .
Spasms, Symptomatic Infantile .
Symptomatic Infantile Spasm .
Syndrome, Cryptogenic West .
Syndrome, Symptomatic West .
Syndrome, West .
West Syndrome, Cryptogenic .
West Syndrome, Symptomatic .
Hypsarrhythmia .
West Syndrome .
Jackknife Seizures .
Nodding Spasm .
Salaam Seizures .
Spasmus Nutans .
Cryptogenic Infantile Spasms .
Infantile Spasms .
Symptomatic Infantile Spasms .
An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs. The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as intrauterine infections; nervous system abnormalities; BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.). (From Menkes, Textbook of Child Neurology, 5th ed, pp744-8) .
Menkes Kinky Hair Syndrome .
Congenital Hypocupremia .
Copper Transport Disease .
Kinky Hair Disease .
Menkea Syndrome .
Menkes Disease .
Menkes' Disease .
Steely Hair Disease .
X-Linked Copper Deficiency .
Congenital Hypocupremias .
Copper Deficiencies, X-Linked .
Copper Deficiency, X-Linked .
Copper Transport Diseases .
Deficiencies, X-Linked Copper .
Deficiency, X-Linked Copper .
Disease, Copper Transport .
Disease, Steely Hair .
Diseases, Copper Transport .
Diseases, Kinky Hair .
Diseases, Menkes' .
Diseases, Steely Hair .
Hair Diseases, Kinky .
Hair Diseases, Steely .
Hypocupremias, Congenital .
Kinky Hair Diseases .
Menkea Syndromes .
Menkes' Diseases .
Steely Hair Diseases .
Steely Hair Syndromes .
Syndrome, Menkea .
Syndrome, Steely Hair .
Syndromes, Menkea .
Syndromes, Steely Hair .
Transport Disease, Copper .
Transport Diseases, Copper .
X Linked Copper Deficiency .
X-Linked Copper Deficiencies .
Menkes Syndrome .
Steely Hair Syndrome .
Kinky Hair Syndrome .
Hypocupremia, Congenital .
An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125) .
Pelizaeus-Merzbacher Disease .
Adult Pelizaeus-Merzbacher Disease .
Atypical Pelizaeus-Merzbacher Disease .
Classic Pelizaeus-Merzbacher Disease .
Leukodystrophy, Hypomyelinating, 1 .
Pelizaeus-Merzbacher Brain Sclerosis .
Pelizaeus-Merzbacher Disease, Adult .
Pelizaeus-Merzbacher Disease, Atypical .
Pelizaeus-Merzbacher Disease, Classic .
Pelizaeus-Merzbacher Disease, Transitional .
Pelizaeus-Merzbacher Sclerosis, Brain .
Transitional Pelizaeus-Merzbacher Disease .
Adult Pelizaeus Merzbacher Disease .
Atypical Pelizaeus Merzbacher Disease .
Brain Pelizaeus-Merzbacher Sclerosis .
Brain Sclerosis, Pelizaeus-Merzbacher .
Classic Pelizaeus Merzbacher Disease .
Cockayne Pelizaeus Merzbacher Disease .
Pelizaeus Merzbacher Brain Sclerosis .
Pelizaeus Merzbacher Disease .
Pelizaeus Merzbacher Disease, Adult .
Pelizaeus Merzbacher Disease, Atypical .
Pelizaeus Merzbacher Disease, Classic .
Pelizaeus Merzbacher Disease, Transitional .
Pelizaeus Merzbacher Sclerosis, Brain .
Transitional Pelizaeus Merzbacher Disease .
Cockayne-Pelizaeus-Merzbacher Disease .
A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190) .
Urologists .
Urologist .
Physicians specializing in the diagnosis, and treatment of diseases of the urinary tract in both sexes, and the genital tract in the male. .
Herpes Zoster .
Shingles .
Zona 5059 .
Zoster .
An acute infectious, usually self-limited, disease believed to represent activation of latent varicella-zoster virus (HERPESVIRUS 3, HUMAN) in those who have been rendered partially immune after a previous attack of CHICKENPOX. It involves the SENSORY GANGLIA and their areas of innervation and is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area. (From Dorland, 27th ed) .
Focal Dermal Hypoplasia .
Goltz's Syndrome .
Goltz-Gorlin Syndrome .
Dermal Hypoplasias, Focal .
Focal Dermal Hypoplasias .
Goltzs Syndrome .
Gorlin Syndrome, Goltz .
Hypoplasia, Focal Dermal .
Hypoplasias, Focal Dermal .
Syndrome, Goltz .
Syndrome, Goltz Gorlin .
Syndrome, Goltz's .
Syndrome, Goltz-Gorlin .
Dermal Hypoplasia, Focal .
Goltz Syndrome .
Goltz Gorlin Syndrome .
A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an X-linked dominant trait. .
Unverricht-Lundborg Syndrome .
Baltic Myoclonic Epilepsy .
Baltic Myoclonus Epilepsy .
Epilepsy, Progressive Myoclonic 1 .
Epilepsy, Progressive Myoclonic 1a .
Epilepsy, Progressive Myoclonic Type 1 .
Epilepsy, Progressive Myoclonus 1 .
Myoclonic Epilepsy of Unverricht and Lundborg .
Myoclonus Progressive Epilepsy of Unverricht and Lundborg .
Progressive Myoclonus Epilepsy 1 .
Progressive Myoclonus Epilepsybaltic Myoclonic Epilepsy .
Unverricht Disease .
Unverricht-Lundborg Disease .
Baltic Myoclonic Epilepsies .
Baltic Myoclonus Epilepsies .
Disease, Unverricht .
Disease, Unverricht-Lundborg .
Diseases, Unverricht .
Diseases, Unverricht-Lundborg .
Epilepsies, Baltic Myoclonic .
Epilepsies, Baltic Myoclonus .
Epilepsy, Baltic Myoclonic .
Epilepsy, Baltic Myoclonus .
Epilepsy, Mediterranean Myoclonic .
Lundborg Unverricht Syndrome .
Myoclonic Epilepsies, Baltic .
Myoclonic Epilepsy, Baltic .
Myoclonic Epilepsy, Mediterranean .
Myoclonus Epilepsies, Baltic .
Myoclonus Epilepsy, Baltic .
Myoclonus, Baltic .
Syndrome, Lundborg-Unverricht .
Syndrome, Unverricht-Lundborg .
Unverricht Diseases .
Unverricht Lundborg Disease .
Unverricht Lundborg Syndrome .
Unverricht-Lundborg Diseases .
Baltic Myoclonus .
Lundborg-Unverricht Syndrome .
Mediterranean Myoclonic Epilepsy .
An autosomal recessive condition characterized by recurrent myoclonic and generalized seizures, ATAXIA, slowly progressive intellectual deterioration, DYSARTHRIA, and intention tremor. Myoclonic seizures are severe and continuous, and tend to be triggered by movement, stress, and sensory stimuli. The age of onset is between 8 and 13 years, and the condition is relatively frequent in the Baltic region, especially Finland. (From Menkes, Textbook of Child Neurology, 5th ed, pp109-110) .
Gestalt Therapy .
Therapy, Gestalt .
A form of psychotherapy with emphasis on the interplay of organism and environment. Basic to this therapy is the development of awareness and maturity, as well as self-confidence. .
Glaucoma .
Glaucomas .
An ocular disease, occurring in many forms, having as its primary characteristics an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. The consequences of the increased pressure may be manifested in a variety of symptoms, depending upon type and severity, such as excavation of the optic disk, hardness of the eyeball, corneal anesthesia, reduced visual acuity, seeing of colored halos around lights, disturbed dark adaptation, visual field defects, and headaches. (Dictionary of Visual Science, 4th ed) .