Condition | Indicated | Relationship Strength | Studies | Trials |
Metabolic Acidosis [description not available] | 0 | 2.39 | 2 | 0 |
Amino Acid Metabolism Disorders, Inborn [description not available] | 0 | 4.63 | 6 | 0 |
Fasting Hypoglycemia HYPOGLYCEMIA expressed in the postabsorptive state, after prolonged FASTING, or an overnight fast. | 0 | 2.08 | 1 | 0 |
Acidosis A pathologic condition of acid accumulation or depletion of base in the body. The two main types are RESPIRATORY ACIDOSIS and metabolic acidosis, due to metabolic acid build up. | 0 | 2.39 | 2 | 0 |
Acute Disease Disease having a short and relatively severe course. | 0 | 2.08 | 1 | 0 |
Hypoglycemia A syndrome of abnormally low BLOOD GLUCOSE level. Clinical hypoglycemia has diverse etiologies. Severe hypoglycemia eventually lead to glucose deprivation of the CENTRAL NERVOUS SYSTEM resulting in HUNGER; SWEATING; PARESTHESIA; impaired mental function; SEIZURES; COMA; and even DEATH. | 0 | 2.08 | 1 | 0 |
Aging, Premature Changes in the organism associated with senescence, occurring at an accelerated rate. | 0 | 2.04 | 1 | 0 |
Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. | 0 | 2.04 | 1 | 0 |
Child Development Deviations [description not available] | 0 | 2.04 | 1 | 0 |
Stunted Growth [description not available] | 0 | 2.04 | 1 | 0 |
Inborn Errors of Metabolism [description not available] | 0 | 3.09 | 5 | 0 |
Developmental Disabilities Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed) | 0 | 2.04 | 1 | 0 |
Growth Disorders Deviations from the average values for a specific age and sex in any or all of the following: height, weight, skeletal proportions, osseous development, or maturation of features. Included here are both acceleration and retardation of growth. | 0 | 2.04 | 1 | 0 |
Metabolism, Inborn Errors Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. | 0 | 3.09 | 5 | 0 |
Genetic Predisposition [description not available] | 0 | 2.05 | 1 | 0 |
Aura [description not available] | 0 | 2.05 | 1 | 0 |
Auditory Processing Disorder, Central [description not available] | 0 | 2.05 | 1 | 0 |
Epilepsy A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313) | 0 | 2.05 | 1 | 0 |
Disease Exacerbation [description not available] | 0 | 2.07 | 1 | 0 |
Inborn Urea Cycle Disorder [description not available] | 0 | 2.48 | 2 | 0 |
Urea Cycle Disorders, Inborn Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA. | 0 | 2.48 | 2 | 0 |
Electron Transport Chain Deficiencies, Mitochondrial [description not available] | 0 | 2.02 | 1 | 0 |
Mitochondrial Diseases Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes. | 0 | 2.02 | 1 | 0 |
Acute Hemorrhagic Encephalomyelitis [description not available] | 0 | 2.02 | 1 | 0 |
Apoplexy [description not available] | 0 | 2.03 | 1 | 0 |
Stroke A group of pathological conditions characterized by sudden, non-convulsive loss of neurological function due to BRAIN ISCHEMIA or INTRACRANIAL HEMORRHAGES. Stroke is classified by the type of tissue NECROSIS, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810) | 0 | 2.03 | 1 | 0 |
Ataxia with Lactic Acidosis 2 [description not available] | 0 | 1.95 | 1 | 0 |
Infant, Newborn, Diseases Diseases of newborn infants present at birth (congenital) or developing within the first month of birth. It does not include hereditary diseases not manifesting at birth or within the first 30 days of life nor does it include inborn errors of metabolism. Both HEREDITARY DISEASES and METABOLISM, INBORN ERRORS are available as general concepts. | 0 | 1.95 | 1 | 0 |
Cystinuria An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PROXIMAL RENAL TUBULES. This form of aminoaciduria is characterized by the abnormally high urinary levels of cystine; LYSINE; ARGININE; and ORNITHINE. Mutations involve the amino acid transport protein gene SLC3A1. | 0 | 1.95 | 1 | 0 |
Alopecia Cicatrisata [description not available] | 0 | 2.36 | 2 | 0 |
Facial Dermatoses Skin diseases involving the FACE. | 0 | 1.96 | 1 | 0 |
Dermatoses [description not available] | 0 | 1.96 | 1 | 0 |
Alopecia Absence of hair from areas where it is normally present. | 0 | 2.36 | 2 | 0 |
Skin Diseases Diseases involving the DERMIS or EPIDERMIS. | 0 | 1.96 | 1 | 0 |
Failure to Thrive A condition of substandard growth or diminished capacity to maintain normal function. | 0 | 1.98 | 1 | 0 |
Cholera Infantum [description not available] | 0 | 1.98 | 1 | 0 |
Hypermyotonia [description not available] | 0 | 1.98 | 1 | 0 |
BCKD Deficiency [description not available] | 0 | 2.92 | 1 | 0 |
Maple Syrup Urine Disease An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a maple syrup odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936) | 0 | 2.92 | 1 | 0 |
Deficiency Diseases A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed) | 0 | 2.01 | 1 | 0 |
Sensitivity and Specificity Binary classification measures to assess test results. Sensitivity or recall rate is the proportion of true positives. Specificity is the probability of correctly determining the absence of a condition. (From Last, Dictionary of Epidemiology, 2d ed) | 0 | 2.01 | 1 | 0 |
Carboxylase Deficiency, Combined [description not available] | 0 | 1.97 | 1 | 0 |
Disease Models, Animal Naturally-occurring or experimentally-induced animal diseases with pathological processes analogous to human diseases. | 0 | 1.97 | 1 | 0 |
Nervous System Disorders [description not available] | 0 | 1.96 | 1 | 0 |
Erythema Redness of the skin produced by congestion of the capillaries. This condition may result from a variety of disease processes. | 0 | 1.96 | 1 | 0 |
Nervous System Diseases Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle. | 0 | 1.96 | 1 | 0 |