Categorias DeCS
C10 Nervous System Diseases .
C10.500 Nervous System Malformations .
C10.500.507 Malformations of Cortical Development .
C10.500.507.450 Malformations of Cortical Development, Group II .
C10.500.507.450.499 Lissencephaly .
C10.500.507.450.499.249 Cobblestone Lissencephaly .
C10.500.507.450.499.249.500 Walker-Warburg Syndrome .
C11 Eye Diseases .
C11.270 Eye Diseases, Hereditary .
C11.270.881 Walker-Warburg Syndrome .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.131 Congenital Abnormalities .
C16.131.077 Abnormalities, Multiple .
C16.131.077.860 Smith-Lemli-Opitz Syndrome .
C16.131.077.944 Wolf-Hirschhorn Syndrome .
C16.131.260 Chromosome Disorders .
C16.131.260.985 Wolf-Hirschhorn Syndrome .
C16.131.666 Nervous System Malformations .
C16.131.666.507 Malformations of Cortical Development .
C16.131.666.507.450 Malformations of Cortical Development, Group II .
C16.131.666.507.450.499 Lissencephaly .
C16.131.666.507.450.499.249 Cobblestone Lissencephaly .
C16.131.666.507.450.499.249.500 Walker-Warburg Syndrome .
C16.320 Genetic Diseases, Inborn .
C16.320.180 Chromosome Disorders .
C16.320.180.985 Wolf-Hirschhorn Syndrome .
C16.320.565 Metabolism, Inborn Errors .
C16.320.565.398 Lipid Metabolism, Inborn Errors .
C16.320.565.398.850 Smith-Lemli-Opitz Syndrome .
C16.320.565.925 Steroid Metabolism, Inborn Errors .
C16.320.565.925.875 Smith-Lemli-Opitz Syndrome .
C16.320.577 Muscular Dystrophies .
C16.320.577.750 Walker-Warburg Syndrome .
C18 Nutritional and Metabolic Diseases .
C18.452 Metabolic Diseases .
C18.452.584 Lipid Metabolism Disorders .
C18.452.584.500 Dyslipidemias .
C18.452.584.500.937 Smith-Lemli-Opitz Syndrome .
C18.452.648 Metabolism, Inborn Errors .
C18.452.648.398 Lipid Metabolism, Inborn Errors .
C18.452.648.398.850 Smith-Lemli-Opitz Syndrome .
C18.452.648.925 Steroid Metabolism, Inborn Errors .
C18.452.648.925.875 Smith-Lemli-Opitz 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 .
C23.888.672 Prodromal Symptoms .
E01 Diagnosis .
E01.599 Prodromal Symptoms .
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| | Termos
Sinônimos e Históricos | Documentos
LILACS e MDL | | | | | |
| Smith-Lemli-Opitz Syndrome .
7-Dehydrocholesterol Reductase Deficiency .
Hyperotosis Corticalis Generalisata Familiaris .
Lethal Acrodysgenital Syndrome .
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung .
RSH Syndrome .
RSH-SLO Syndrome .
Rutledge Friedman Harrod Syndrome .
Rutledge Lethal Multiple Congenital Anomaly Syndrome .
SLO Syndrome .
Smith Lemli Opitz syndrome, type 1 .
Smith-Lemli-Opitz Syndrome, Type 1 .
Smith-Lemli-Opitz Syndrome, Type 2 .
Smith-Lemli-Opitz Syndrome, Type I .
Smith-Lemli-Opitz Syndrome, Type II .
7-Dehydrocholesterol Reductase Deficiencies .
Acrodysgenital Syndrome, Lethal .
Acrodysgenital Syndromes, Lethal .
Deficiencies, 7-Dehydrocholesterol Reductase .
Deficiency, 7-Dehydrocholesterol Reductase .
Lethal Acrodysgenital Syndromes .
RSH SLO Syndrome .
RSH Syndromes .
RSH-SLO Syndromes .
Reductase Deficiencies, 7-Dehydrocholesterol .
Reductase Deficiency, 7-Dehydrocholesterol .
SLO Syndromes .
Smith Lemli Opitz Syndrome .
Smith Lemli Opitz Syndrome, Type 2 .
Smith Lemli Opitz Syndrome, Type I .
Smith Lemli Opitz Syndrome, Type II .
Syndrome, Lethal Acrodysgenital .
Syndrome, RSH .
Syndrome, SLO .
Syndromes, RSH .
Syndromes, SLO .
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| Prodromal Symptoms .
Prodromal Characteristics .
Prodromal Period .
Prodromal Signs .
Prodromal Stage .
Prodromal States .
Prodromal Syndromes .
Characteristic, Prodromal .
Characteristics, Prodromal .
Period, Prodromal .
Periods, Prodromal .
Prodromal Characteristic .
Prodromal Periods .
Prodromal Sign .
Prodromal Stages .
Prodromal State .
Prodromal Symptom .
Prodromal Syndrome .
Sign, Prodromal .
Signs, Prodromal .
Stage, Prodromal .
Stages, Prodromal .
State, Prodromal .
States, Prodromal .
Symptom, Prodromal .
Symptoms, Prodromal .
Syndrome, Prodromal .
Syndromes, Prodromal .
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| Wolf-Hirschhorn Syndrome .
4p Deletion Syndrome .
4p- Syndrome .
Chromosome 4p Deletion Syndrome .
Chromosome 4p Monosomy .
Chromosome 4p Syndrome .
Del(4p) Syndrome .
Mental Retardation, Unusual Facies, And Intrauterine Growth Retardation .
Partial Monosomy 4p .
Pitt Syndrome .
Pitt-Rogers-Danks Syndrome .
Wolf Syndrome .
Wolf-Hirchhorn Syndrome .
4p Syndrome, Chromosome .
4p Syndromes, Chromosome .
Chromosome 4p Syndromes .
Pitt Rogers Danks Syndrome .
Pitt Syndromes .
Syndrome, Chromosome 4p .
Syndrome, Pitt .
Syndrome, Pitt-Rogers-Danks .
Syndrome, Wolf .
Syndrome, Wolf-Hirchhorn .
Syndrome, Wolf-Hirschhorn .
Syndromes, Chromosome 4p .
Syndromes, Pitt .
Wolf Hirchhorn Syndrome .
Wolf Hirschhorn Syndrome .
Wolf-Hirchhorn Syndrome .
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| Walker-Warburg Syndrome .
COD-MD Syndrome .
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome .
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A1 .
Fukuyama CMD .
Fukuyama Muscular Dystrophy .
Fukuyama Syndrome .
HARD Syndrome .
Hydrocephalus, Agyria, And Retinal Dysplasia .
LGMD2K .
MDDGA1 .
MEB (Muscle-Eye-Brain) Syndrome .
Muscle Eye Brain Disease .
Muscle-Eye-Brain Disease, POMT1-Related .
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation .
Muscular Dystrophy, Limb-Girdle, Type 2K .
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1 .
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 .
Pagon Syndrome .
CMD, Fukuyama .
COD MD Syndrome .
COD-MD Syndromes .
Cerebroocular Dysplasia Muscular Dystrophy Syndrome .
Congenital Muscular Dystrophy Dystroglycanopathy with Brain and Eye Anomalies, Type A1 .
Disease, POMT1-Related Muscle-Eye-Brain .
Diseases, POMT1-Related Muscle-Eye-Brain .
Dystrophy, Fukuyama Muscular .
HARD Syndromes .
Muscle Eye Brain Disease, POMT1 Related .
Muscle-Eye-Brain Diseases .
Muscle-Eye-Brain Diseases, POMT1-Related .
Muscular Dystrophy, Fukuyama .
POMT1-Related Muscle-Eye-Brain Disease .
POMT1-Related Muscle-Eye-Brain Diseases .
Pagon Syndromes .
Syndrome, COD-MD .
Syndrome, Chemke .
Syndrome, Fukuyama .
Syndrome, HARD .
Syndrome, Pagon .
Syndrome, Walker-Warburg .
Syndrome, Warburg .
Syndromes, COD-MD .
Syndromes, HARD .
Syndromes, Pagon .
Walker Warburg Syndrome .
alpha Dystroglycanopathies .
alpha-Dystroglycanopathies .
Cerebromuscular Dystrophy, Fukuyama Type .
Chemke Syndrome .
Fukuyama Congenital Muscular Dystrophy .
Fukuyama Type Congenital Muscular Dystrophy .
Muscle-Eye-Brain Disease .
Muscular Dystrophy, Congenital, Fukuyama Type .
Warburg Syndrome .
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