| ACADS |
201470 |
Musculoskeletal-diseases |
|
musculoskeletal |
#3335634 #3571488 #9932958 #11524729 #15534767 |
| ACADS |
201470 |
Bone-diseases |
|
musculoskeletal |
#9932958 #11524729 |
| ACADS |
201470 |
Spinal-diseases |
scoliosis; lumbar lordosis
|
musculoskeletal |
9932958 11524729 |
| ACADS |
201470 |
Joint-diseases |
|
musculoskeletal |
#9932958 |
| ACADS |
201470 |
Joint-limitations |
joint limitations; joint contractures; progressive
|
musculoskeletal |
9932958 |
| ACADS |
201470 |
Muscular-diseases |
myopathy; lipid storage; adult form; multicore myopathy; axial myopathy; intrafiber lipid deposits; variation in muscle fibre size; hypertrophic fibres; atrophic fibers
|
musculoskeletal |
3335634 9932958 15534767 |
| ACADS |
201470 |
Craniofacial-abnormalities |
|
musculoskeletal |
#3335634 #3571488 |
| ACADS |
201470 |
Microcephaly |
|
musculoskeletal |
3335634 3571488 |
| ACADS |
201470 |
Digestive-system-diseases |
|
gastrointestinal |
#3335634 #3571488 #7776094 #9499414 #9578969 #11524729 #12061367 #12872838 #14595061 |
| ACADS |
201470 |
Biliary-tract-diseases |
|
gastrointestinal |
#3571488 |
| ACADS |
201470 |
Cholestasis |
intracanalicular cholestasis
|
gastrointestinal |
3571488 |
| ACADS |
201470 |
Gastrointestinal-diseases |
|
gastrointestinal |
#12061367 |
| ACADS |
201470 |
Gastroenteritis |
|
gastrointestinal |
12061367 |
| ACADS |
201470 |
Liver-diseases |
hepatocellular necrosis
|
gastrointestinal |
3571488 #14595061 |
| ACADS |
201470 |
Fatty-liver |
fatty changes; microvesicular fat
|
gastrointestinal |
3571488 |
| ACADS |
201470 |
Liver-enzymes-abnormal |
AST elevated
|
gastrointestinal |
14595061 |
| ACADS |
201470 |
Hepatomegaly |
hepatosplenomegaly
|
gastrointestinal |
3571488 14595061 |
| ACADS |
201470 |
Feeding-difficulties |
poor feeding; fed poorly
|
gastrointestinal |
3335634 3571488 7776094 9499414 9578969 11524729 |
| ACADS |
201470 |
Vomiting |
nausea; vomit; gastroesophageal reflux; vomiting attacks; chronic recurrent vomiting
|
gastrointestinal |
3335634 3571488 9499414 9578969 12872838 |
| ACADS |
201470 |
Respiratory-tract-diseases |
|
respiratory |
#3571488 #9499414 #9578969 #11134486 #14595061 |
| ACADS |
201470 |
Lung-diseases |
|
respiratory |
#3571488 #9499414 #9578969 |
| ACADS |
201470 |
Pneumonia |
bronchopneumonia
|
respiratory |
3571488 9499414 9578969 |
| ACADS |
201470 |
Respiration-disorders |
respiratory distress
|
respiratory |
3571488 11134486 14595061 |
| ACADS |
201470 |
Hyperventilation |
hyperpnea
|
respiratory |
3571488 |
| ACADS |
201470 |
Nervous-system-diseases |
|
neurologic |
#2808706 #3335634 #3571488 #7776094 #9499414 #9578969 #9932958 #11134486 #11524729 #12061367 #14595061 #15534767 |
| ACADS |
201470 |
Central-nervous-system-diseases |
|
neurologic |
#3571488 #7776094 #9578969 #11134486 #15534767 |
| ACADS |
201470 |
Brain-diseases |
|
neurologic |
#3571488 #7776094 #9578969 #11134486 #15534767 |
| ACADS |
201470 |
Brain-edema |
cerebral edema
|
neurologic |
3571488 |
| ACADS |
201470 |
Seizures |
seizures; convulsions; multifocal seizures
|
neurologic |
3571488 7776094 11134486 |
| ACADS |
201470 |
Cerebral-atrophy |
CT findings; atrophy; ventricular dilatation; wide extracerebral space
|
neurologic |
9578969 15534767 |
| ACADS |
201470 |
Electroencephalogram-abnormal |
multifocal seizures; poor background activity
|
neurologic |
3571488 |
| ACADS |
201470 |
Neurologic-manifestations |
|
neurologic |
#2808706 #3335634 #3571488 #7776094 #9499414 #9578969 #9932958 #11134486 #11524729 #12061367 #14595061 #15534767 |
| ACADS |
201470 |
Neurobehavioral-manifestations |
|
neurologic |
#3571488 #7776094 #9499414 #9578969 #12061367 #14595061 |
| ACADS |
201470 |
Consciousness-disorders |
low level of consciousness; consciousness decreased
|
neurologic |
9499414 9578969 |
| ACADS |
201470 |
Developmental-delay |
psychomotor retardation; speech development delayed; failure to aquire motor skills
|
neurologic |
2808706 3335634 7776094 11134486 11524729 14595061 15534767 |
| ACADS |
201470 |
Psychomotor-agitation |
jittery; hyperactivity; very active behavior
|
neurologic |
7776094 14595061 |
| ACADS |
201470 |
Lethargy |
lethargic; listlessness; weak; tired
|
neurologic |
3571488 7776094 12061367 |
| ACADS |
201470 |
Neuromuscular-manifestations |
|
neurologic |
#2808706 #3335634 #3571488 #7776094 #9578969 #9932958 #11134486 #11524729 #14595061 #15534767 |
| ACADS |
201470 |
Muscle-hypertonia |
hypertonic
|
neurologic |
3571488 7776094 |
| ACADS |
201470 |
Muscle-hypotonia |
hypotonic; axial hypotonia
|
neurologic |
3335634 7776094 9578969 9932958 11134486 14595061 15534767 |
| ACADS |
201470 |
Muscle-weakness |
proximal; progressive; severe weakness
|
neurologic |
2808706 3335634 7776094 15534767 |
| ACADS |
201470 |
Muscular-atrophy |
muscle wasting; type 1 fiber predominance; type 1 fibre atrophy; type 2 fibre atrophy; neurogenic atrophy; denervation atrophy
|
neurologic |
9932958 11524729 15534767 |
| ACADS |
201470 |
Electromyography-abnormal |
Electromyogram abnormal; severe loss of compound motor action potential
|
neurologic |
15534767 |
| ACADS |
201470 |
Reflexes-abnormal |
|
neurologic |
#7776094 #9932958 #15534767 |
| ACADS |
201470 |
Hyperreflexia |
|
neurologic |
7776094 |
| ACADS |
201470 |
Hyporeflexia |
deep tendon reflexes absent
|
neurologic |
9932958 15534767 |
| ACADS |
201470 |
Peripheral-nervous-system-diseases |
|
neurologic |
#15534767 |
| ACADS |
201470 |
Polyneuropathies |
chronic; active; axonal sensory motor polyneuropathy; fibrillations; axonal neuropathy; collagen deposition
|
neurologic |
15534767 |
| ACADS |
201470 |
Eye-diseases |
|
ophthalmologic |
#3335634 #3571488 #7776094 #9932958 #15534767 |
| ACADS |
201470 |
Blepharoptosis |
ptosis
|
ophthalmologic |
3335634 3571488 9932958 |
| ACADS |
201470 |
Lens-diseases |
|
ophthalmologic |
#9932958 |
| ACADS |
201470 |
Cataract |
|
ophthalmologic |
9932958 |
| ACADS |
201470 |
Ocular-motility-disorders |
|
ophthalmologic |
#7776094 #9932958 #15534767 |
| ACADS |
201470 |
Pathologic-nystagmus |
rotatory nystagmus; vertical nystagmus; horizontal nystagmus
|
ophthalmologic |
7776094 15534767 |
| ACADS |
201470 |
Ophthalmoplegia |
ophthalmoparesis
|
ophthalmologic |
9932958 |
| ACADS |
201470 |
Optic-nerve-diseases |
bilateral optic atrophy; optic atrophy
|
ophthalmologic |
15534767 |
| ACADS |
201470 |
Genitourinary-diseases |
|
genitourinary |
#3571488 #14595061 |
| ACADS |
201470 |
Urologic-diseases |
|
genitourinary |
#3571488 |
| ACADS |
201470 |
Kidney-diseases |
|
genitourinary |
#3571488 |
| ACADS |
201470 |
Uremia |
blood urea nitrogen elevated
|
genitourinary |
3571488 |
| ACADS |
201470 |
Female-genital-diseases |
|
genitourinary |
#14595061 |
| ACADS |
201470 |
Pregnancy-complications |
hypertension or hemolysis elevated liver enzymes and low platelets; HELLP syndrome
|
genitourinary |
14595061 |
| ACADS |
201470 |
Cardiovascular-diseases |
|
cardiovascular |
#3571488 #9932958 |
| ACADS |
201470 |
Heart-diseases |
|
cardiovascular |
#3571488 #9932958 |
| ACADS |
201470 |
Arrhythmia |
tachycardia
|
cardiovascular |
3571488 |
| ACADS |
201470 |
Cardiomyopathy |
bilateral; hypertrophic; ventricular dysfunction; left ventricle
|
cardiovascular |
9932958 |
| ACADS |
201470 |
Blood-circulation-disorder |
pale extremities; mottled extremities
|
cardiovascular |
3571488 |
| ACADS |
201470 |
Hematologic-diseases |
|
hematologic |
#3571488 |
| ACADS |
201470 |
Blood-platelet-disorders |
|
hematologic |
#3571488 |
| ACADS |
201470 |
Thrombocytosis |
platelets elevated
|
hematologic |
3571488 |
| ACADS |
201470 |
Hemoglobin-levels-abnormal |
hemoglobin deficiency
|
hematologic |
3571488 |
| ACADS |
201470 |
Leukocyte-disorders |
|
hematologic |
#3571488 |
| ACADS |
201470 |
Leukocytosis |
leukocyte count elevated
|
hematologic |
3571488 |
| ACADS |
201470 |
Metabolic-diseases |
|
metabolic |
#2808706 #3335634 #3571488 #7776094 #9499414 #9578969 #9932958 #11134486 #11524729 #12061367 #12872838 #14595061 #15534767 |
| ACADS |
201470 |
Acid-base-imbalance |
|
metabolic |
#2808706 #3571488 #7776094 #12061367 |
| ACADS |
201470 |
Acidosis |
metabolic acidosis; neonatal
|
metabolic |
2808706 3571488 7776094 12061367 |
| ACADS |
201470 |
Glucose-metabolism-disorders |
|
metabolic |
#3571488 #11134486 #12061367 |
| ACADS |
201470 |
Hypoglycemia |
blood sugar decreased; plasma glucagon elevated; hypoglycaemia
|
metabolic |
3571488 11134486 12061367 |
| ACADS |
201470 |
Hyperbilirubinemia |
elevated conjugated serum bilirubin; jaundice
|
metabolic |
14595061 |
| ACADS |
201470 |
Aminoaciduria |
aspartate elevated; threonine elevated; glutamine elevated; proline elevated; glycine elevated; alanine elevated; histidine elevated
|
metabolic |
3335634 3571488 |
| ACADS |
201470 |
Water-electrolyte-imbalance |
|
metabolic |
#3571488 |
| ACADS |
201470 |
Hyperkalemia |
potassium elevated
|
metabolic |
3571488 |
| ACADS |
201470 |
Hypernatremia |
|
metabolic |
3571488 |
| ACADS |
201470 |
Acylcarnitine-profile-abnormal |
elevated C4 acylcarnitine; elevated butyrylcarnitine; C4 elevation during episodes
|
metabolic |
7776094 12872838 14595061 15534767 |
| ACADS |
201470 |
Acylglycine-profile-abnormal |
butyrylglycinuria; isovalerylglycine
|
metabolic |
7776094 9932958 |
| ACADS |
201470 |
Carnitine-levels-abnormal |
decreased total carnitine; decreased free carnitine; elevated esterified carnitine
|
metabolic |
2808706 3335634 12061367 15534767 |
| ACADS |
201470 |
Fatty-acids-abnormal |
serum; free fatty acids elevated
|
metabolic |
12061367 |
| ACADS |
201470 |
Organic-acids-abnormal |
ethylmalonic aciduria; methylsuccinic aciduria; citric acid decreased; ketonuria
|
metabolic |
2808706 #3335634 3571488 7776094 #9499414 #9578969 9932958 11134486 11524729 12061367 12872838 14595061 15534767 |
| ACADS |
201470 |
Dicarboxylic-aciduria |
mild; elevation of dicarboxylic acids; urine sample
|
metabolic |
3335634 3571488 9578969 |
| ACADS |
201470 |
Ethylmalonic-aciduria |
ethylmalonic acids elevated; ethylmalonate elevated
|
metabolic |
2808706 3571488 7776094 9499414 9578969 9932958 11134486 12061367 12872838 14595061 15534767 |
| ACADS |
201470 |
Tiglylglycinuria |
tiglylglycine levels elevated
|
metabolic |
11134486 |
| ACADS |
201470 |
Immune-system-diseases |
|
immunologic |
#3571488 #9578969 #9932958 #12061367 #15534767 |
| ACADS |
201470 |
Infections |
respiratory tract infections; viral infections; bronchiolitis; urinary tract infections; tonsilitis
|
immunologic |
3571488 9578969 9932958 12061367 15534767 |
| ACADS |
201470 |
Body-temperature-changes |
|
miscellaneous |
#9578969 #14595061 |
| ACADS |
201470 |
Fever |
febrile illness
|
miscellaneous |
9578969 14595061 |
| ACADS |
201470 |
Splenomegaly |
enlarged spleen; hepatosplenomegaly
|
miscellaneous |
14595061 |
| ACADS |
201470 |
Growth-disorders |
|
miscellaneous |
#3335634 #7776094 #9499414 |
| ACADS |
201470 |
Failure-to-thrive |
|
miscellaneous |
3335634 7776094 9499414 |
| ACADS |
201470 |
Dysmorphism-and-abnormalities |
dysmorphic features
|
miscellaneous |
11134486 |
| ACADS |
201470 |
Mitochondria-abnormal |
decreased numbers; multicores; minicores; increased numbers of subsarcolemmal mitochondria
|
miscellaneous |
9932958 15534767 |
| ACADS |
201470 |
Alkaline-phosphatase-abnormal |
elevated
|
miscellaneous |
14595061 |
| ACADS |
201470 |
Creatine-kinase-abnormal |
elevated; raised
|
miscellaneous |
15534767 |
