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 DeCS Categories

C10 Nervous System Diseases .
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 .
C10.228.140.163.100.425 Lesch-Nyhan 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 .
C10.597.606.643.455.500 Fragile X Syndrome .
C10.597.606.643.455.625 Lesch-Nyhan Syndrome .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.131 Congenital Abnormalities .
C16.131.260 Chromosome Disorders .
C16.131.260.830 Sex Chromosome Disorders .
C16.131.260.830.300 Fragile X Syndrome .
C16.320 Genetic Diseases, Inborn .
C16.320.180 Chromosome Disorders .
C16.320.180.830 Sex Chromosome Disorders .
C16.320.180.830.300 Fragile X Syndrome .
C16.320.322 Genetic Diseases, X-Linked .
C16.320.322.500 Mental Retardation, X-Linked .
C16.320.322.500.500 Fragile X Syndrome .
C16.320.322.500.625 Lesch-Nyhan Syndrome .
C16.320.400 Heredodegenerative Disorders, Nervous System .
C16.320.400.525 Mental Retardation, X-Linked .
C16.320.400.525.500 Fragile X Syndrome .
C16.320.400.525.625 Lesch-Nyhan Syndrome .
C16.320.565 Metabolism, Inborn Errors .
C16.320.565.189 Brain Diseases, Metabolic, Inborn .
C16.320.565.189.425 Lesch-Nyhan Syndrome .
C16.320.565.798 Purine-Pyrimidine Metabolism, Inborn Errors .
C16.320.565.798.594 Lesch-Nyhan Syndrome .
C18 Nutritional and Metabolic Diseases .
C18.452 Metabolic Diseases .
C18.452.132 Brain Diseases, Metabolic .
C18.452.132.100 Brain Diseases, Metabolic, Inborn .
C18.452.132.100.425 Lesch-Nyhan Syndrome .
C18.452.648 Metabolism, Inborn Errors .
C18.452.648.189 Brain Diseases, Metabolic, Inborn .
C18.452.648.189.425 Lesch-Nyhan Syndrome .
C18.452.648.798 Purine-Pyrimidine Metabolism, Inborn Errors .
C18.452.648.798.594 Lesch-Nyhan Syndrome .
C23 Pathological Conditions, Signs and Symptoms .
C23.888 Signs and Symptoms .
C23.888.592 Neurologic Manifestations .
C23.888.592.604 Neurobehavioral Manifestations .
C23.888.592.604.646 Intellectual Disability .
F01 Behavior and Behavior Mechanisms .
F01.700 Neurobehavioral Manifestations .
F01.700.687 Intellectual Disability .
F03 Mental Disorders .
F03.625 Neurodevelopmental Disorders .
F03.625.539 Intellectual Disability .
 
 Terms
 Synonyms & Historicals
Documents
LILACS e MDL
 
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) .
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201179
 
Intellectual Disability .
Deficiency, Mental .
Intellectual Development Disorder .
Mental Deficiency .
Mental Retardation, Psychosocial .
Deficiencies, Mental .
Development Disorder, Intellectual .
Development Disorders, Intellectual .
Disabilities, Intellectual .
Disorder, Intellectual Development .
Disorders, Intellectual Development .
Intellectual Development Disorders .
Intellectual Disabilities .
Mental Deficiencies .
Mental Retardations, Psychosocial .
Psychosocial Mental Retardation .
Psychosocial Mental Retardations .
Retardation, Psychosocial Mental .
Retardations, Psychosocial Mental .
Disability, Intellectual .
Idiocy .
Mental Retardation .
Retardation, Mental .
MENTAL DEFICIENCY .
MENTAL RETARDATION, PSYCHOSOCIAL .
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) .
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Fragile X Syndrome .
Fra(X) Syndrome .
Fragile X Mental Retardation Syndrome .
Fragile X-F Mental Retardation Syndrome .
Mar (X) Syndrome .
Marker X Syndrome .
Mental Retardation, X-Linked, Associated With Fragile Site Fraxe .
Mental Retardation, X-Linked, Associated With Marxq28 .
X-Linked Mental Retardation and Macroorchidism .
FRAXA Syndromes .
FRAXE Syndromes .
Fragile X Syndromes .
Marker X Syndromes .
Martin Bell Syndrome .
Syndrome, FRAXA .
Syndrome, FRAXE .
Syndrome, Fragile X .
Syndrome, Marker X .
Syndrome, Martin-Bell .
Syndromes, FRAXA .
Syndromes, FRAXE .
Syndromes, Fragile X .
Syndromes, Marker X .
X Linked Mental Retardation and Macroorchidism .
FRAXA Syndrome .
FRAXE Syndrome .
Martin-Bell Syndrome .
A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226) .
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Mental Retardation, X-Linked .
X-Linked Mental Retardation Disorders .
X-Linked Mental Retardation Syndromes .
Mental Retardation, X Linked .
Retardation, X-Linked Mental .
X Linked Mental Retardation .
X Linked Mental Retardation Disorders .
X Linked Mental Retardation Syndromes .
X-Linked Mental Retardations .
X-Linked Mental Retardation .
A class of genetic disorders resulting in INTELLECTUAL DISABILITY that is associated either with mutations of GENES located on the X CHROMOSOME or aberrations in the structure of the X chromosome (SEX CHROMOSOME ABERRATIONS). .
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