| CPT2 |
255110 |
Musculoskeletal-diseases |
|
musculoskeletal |
#2748260 #8201482 #8358442 #8786066 #8815169 #9600456 #10090476 #10398215 #10862092 #11999976 #12410208 #12752755 #15642848 #15776096 |
| CPT2 |
600649 |
Musculoskeletal-diseases |
|
musculoskeletal |
#11389301 |
| CPT2 |
255110 |
Muscular-diseases |
myopathy; lipid storage; progressive; necrotic fibers during attacks; atrophic fibers; increased variability in fiber size
|
musculoskeletal |
#2748260 #8201482 #8358442 #8786066 #8815169 #9600456 #10090476 10398215 #10862092 11999976 12410208 #12752755 15642848 #15776096 |
| CPT2 |
600649 |
Muscular-diseases |
myofibrillar disarray; skeletal muscle; myopathic process
|
musculoskeletal |
11389301 |
| CPT2 |
255110 |
Rhabdomyolysis |
dark urine; recurrent episodes
|
musculoskeletal |
2748260 8358442 8786066 8815169 11999976 15642848 15776096 |
| CPT2 |
255110 |
Myoglobinuria |
paroxysmal; after exercise; cold triggered; fever triggered; fasting triggered; recurrent episodes; pigmenturia
|
musculoskeletal |
2748260 8201482 8358442 8786066 8815169 9600456 10090476 10398215 10862092 11999976 12752755 15642848 15776096 |
| CPT2 |
255110 |
Digestive-system-diseases |
|
gastrointestinal |
#8201482 #8815169 |
| CPT2 |
600649 |
Digestive-system-diseases |
|
gastrointestinal |
#1528846 #1999498 #8682496 #9600456 #11389301 #11477613 #12410208 #12560872 |
| CPT2 |
255110 |
Liver-diseases |
|
gastrointestinal |
#8201482 #8815169 |
| CPT2 |
600649 |
Liver-diseases |
liver calcifications; liver dysfunction
|
gastrointestinal |
#1999498 #8682496 9600456 11389301 #11477613 12410208 #12560872 |
| CPT2 |
600649 |
Fatty-liver |
steatosis; microvesicular; macrovesicular; fat droplets; swollen hepatocytes; fatty changes
|
gastrointestinal |
8682496 9600456 11389301 11477613 |
| CPT2 |
255110 |
Liver-enzymes-abnormal |
AST elevated; ALT elevated
|
gastrointestinal |
8201482 8815169 |
| CPT2 |
600649 |
Liver-enzymes-abnormal |
AST elevated; ALT elevated
|
gastrointestinal |
1999498 8682496 9600456 11389301 11477613 12410208 |
| CPT2 |
600649 |
Hepatomegaly |
moderate
|
gastrointestinal |
1999498 8682496 9600456 11477613 12560872 |
| CPT2 |
255110 |
Pancreatic-diseases |
|
gastrointestinal |
#8201482 |
| CPT2 |
255110 |
Pancreatitis |
pancreas enlargement; serum amylase elevated; recurrent pancreatitis
|
gastrointestinal |
8201482 |
| CPT2 |
255110 |
Abdominal-pain |
epigastric pain
|
gastrointestinal |
8201482 |
| CPT2 |
600649 |
Feeding-difficulties |
|
gastrointestinal |
11477613 |
| CPT2 |
600649 |
Diarrhea |
|
gastrointestinal |
9600456 12410208 |
| CPT2 |
255110 |
Vomiting |
nausea; vomiting
|
gastrointestinal |
8201482 8815169 |
| CPT2 |
600649 |
Vomiting |
episodes; regurgitations
|
gastrointestinal |
1528846 11477613 12410208 |
| CPT2 |
600649 |
Respiratory-tract-diseases |
|
respiratory |
#1528846 #1999498 #11389301 #12410208 #12560872 |
| CPT2 |
600649 |
Respiration-disorders |
|
respiratory |
#1528846 #1999498 #11389301 #12410208 #12560872 |
| CPT2 |
600649 |
Hyperventilation |
tachypnea
|
respiratory |
11389301 12410208 |
| CPT2 |
600649 |
Respiratory-insufficiency |
respiratory distress; respiratory arrest
|
respiratory |
1528846 1999498 12410208 12560872 |
| CPT2 |
255110 |
Nervous-system-diseases |
|
neurologic |
#8201482 #8358442 #8786066 #8815169 #9600456 #10090476 #10398215 #10862092 #11999976 #12410208 #12752755 #15642848 #15776096 |
| CPT2 |
600649 |
Nervous-system-diseases |
|
neurologic |
#1528846 #1999498 #8682496 #11389301 #11477613 #12410208 #12560872 |
| CPT2 |
255110 |
Central-nervous-system-diseases |
|
neurologic |
#12752755 |
| CPT2 |
600649 |
Central-nervous-system-diseases |
|
neurologic |
#1999498 #11389301 #11477613 #12410208 #12560872 |
| CPT2 |
255110 |
Brain-diseases |
|
neurologic |
#12752755 |
| CPT2 |
600649 |
Brain-diseases |
|
neurologic |
#1999498 #11389301 #11477613 #12410208 #12560872 |
| CPT2 |
600649 |
Cerebrovascular-disorders |
|
neurologic |
#11477613 |
| CPT2 |
600649 |
Intracranial-hemorrhages |
periventricular hemorrhages; subependymal hemorrhages; subarachnoid hemorrhages
|
neurologic |
11477613 |
| CPT2 |
600649 |
Seizures |
seizures refractory to antiepileptic drugs
|
neurologic |
1999498 11389301 12410208 12560872 |
| CPT2 |
255110 |
Headache-disorders |
migraine headache; migraine; frequent headaches; jabs and jolts headache; ice pick headache
|
neurologic |
12752755 |
| CPT2 |
600649 |
Cerebral-atrophy |
ventriculomegaly; cerebral atrophy
|
neurologic |
11477613 |
| CPT2 |
600649 |
Cerebral-calcifications |
intracerebral; periventricular; subependymal; scattered calcifications
|
neurologic |
11389301 11477613 |
| CPT2 |
600649 |
Corpus-callosum-hypoplasia |
MRI findings; absence corpus callosum; dysplasia; dysplastic corpus callosum
|
neurologic |
11389301 11477613 |
| CPT2 |
600649 |
Cortical-dysplasia |
polymicrogyria; glial heterotopia; cerebral malformations
|
neurologic |
11477613 |
| CPT2 |
600649 |
Electroencephalogram-abnormal |
burst suppression patterns
|
neurologic |
11389301 |
| CPT2 |
600649 |
Neuronal-loss-and-lesions |
MRI findings; signal intensity abnormalities; anterior horn abnormal; calcifications
|
neurologic |
11477613 |
| CPT2 |
255110 |
Neurologic-manifestations |
|
neurologic |
#8201482 #8358442 #8786066 #8815169 #9600456 #10090476 #10398215 #10862092 #11999976 #12410208 #12752755 #15642848 #15776096 |
| CPT2 |
600649 |
Neurologic-manifestations |
|
neurologic |
#1528846 #1999498 #8682496 #11389301 #11477613 #12410208 #12560872 |
| CPT2 |
600649 |
Neurobehavioral-manifestations |
|
neurologic |
#1528846 #1999498 #8682496 #11477613 #12410208 #12560872 |
| CPT2 |
600649 |
Consciousness-disorders |
coma
|
neurologic |
1528846 |
| CPT2 |
255110 |
Developmental-delay |
gross motor delay
|
neurologic |
8201482 |
| CPT2 |
600649 |
Lethargy |
episodes; hypoactivity
|
neurologic |
1528846 1999498 8682496 11477613 12410208 12560872 |
| CPT2 |
255110 |
Neuromuscular-manifestations |
|
neurologic |
#8201482 #8358442 #8786066 #8815169 #9600456 #10090476 #10398215 #10862092 #11999976 #12410208 #12752755 #15642848 #15776096 |
| CPT2 |
600649 |
Neuromuscular-manifestations |
|
neurologic |
#11389301 #11477613 #12560872 |
| CPT2 |
600649 |
Muscle-hypotonia |
muscular hypotonia; generalized
|
neurologic |
11389301 11477613 12560872 |
| CPT2 |
255110 |
Muscle-weakness |
after exercise; floppy legs
|
neurologic |
8358442 10090476 11999976 12410208 12752755 15642848 |
| CPT2 |
255110 |
Electromyography-abnormal |
myogenic abnormalities; myopathic changes
|
neurologic |
9600456 11999976 |
| CPT2 |
255110 |
Muscle-aching-and-stiffness |
recurrent; episodes; myalgia; cramps; muscle pain; muscle cramps
|
neurologic |
8201482 8358442 8786066 8815169 9600456 10090476 10398215 10862092 11999976 12752755 15642848 15776096 |
| CPT2 |
255110 |
Eye-diseases |
|
ophthalmologic |
#12752755 |
| CPT2 |
600649 |
Eye-diseases |
|
ophthalmologic |
#11389301 |
| CPT2 |
600649 |
Lens-diseases |
|
ophthalmologic |
#11389301 |
| CPT2 |
600649 |
Cataract |
bilateral cataracts
|
ophthalmologic |
11389301 |
| CPT2 |
255110 |
Vision-disorders |
|
ophthalmologic |
#12752755 |
| CPT2 |
255110 |
Photophobia |
photophobia and phonophobia
|
ophthalmologic |
12752755 |
| CPT2 |
255110 |
Genitourinary-diseases |
|
genitourinary |
#2748260 #8358442 #8815169 #10398215 #10862092 #11999976 #15642848 #15776096 |
| CPT2 |
600649 |
Genitourinary-diseases |
|
genitourinary |
#8682496 #11389301 #11477613 #12410208 |
| CPT2 |
255110 |
Urologic-diseases |
|
genitourinary |
#2748260 #8358442 #8815169 #10398215 #10862092 #11999976 #15642848 #15776096 |
| CPT2 |
600649 |
Urologic-diseases |
|
genitourinary |
#8682496 #11389301 #11477613 #12410208 |
| CPT2 |
255110 |
Kidney-diseases |
|
genitourinary |
#2748260 #8358442 #8815169 #10398215 #10862092 #11999976 #15642848 #15776096 |
| CPT2 |
600649 |
Kidney-diseases |
|
genitourinary |
#8682496 #11389301 #11477613 #12410208 |
| CPT2 |
600649 |
Hydronephrosis |
left hydronephrosis
|
genitourinary |
11389301 12410208 |
| CPT2 |
600649 |
Cystic-kidney-diseases |
kidney cysts; bilateral cysts; dysplastic kidneys; polycystic kidneys; kidneys enlarged; kidneys irregular
|
genitourinary |
11389301 11477613 12410208 |
| CPT2 |
255110 |
Renal-insufficiency |
renal failure; renal tubular dysfunction; acute renal failure
|
genitourinary |
2748260 8358442 8815169 10398215 10862092 11999976 15642848 15776096 |
| CPT2 |
600649 |
Renal-insufficiency |
renal tubular dysfunction; renal failure
|
genitourinary |
11389301 11477613 12410208 |
| CPT2 |
255110 |
Creatinine-levels-abnormal |
elevated
|
genitourinary |
8815169 |
| CPT2 |
600649 |
Creatinine-levels-abnormal |
creatinine elevated
|
genitourinary |
11389301 11477613 |
| CPT2 |
255110 |
Uremia |
blood urea nitrogen elevated; related to anuria
|
genitourinary |
8815169 |
| CPT2 |
600649 |
Uremia |
serum urea nitrogen increased; BUN increased
|
genitourinary |
8682496 |
| CPT2 |
255110 |
Cardiovascular-diseases |
|
cardiovascular |
#2748260 #10577999 |
| CPT2 |
600649 |
Cardiovascular-diseases |
|
cardiovascular |
#1528846 #1999498 #11389301 #11477613 #12410208 #12560872 |
| CPT2 |
255110 |
Heart-diseases |
|
cardiovascular |
#2748260 #10577999 |
| CPT2 |
600649 |
Heart-diseases |
|
cardiovascular |
#1528846 #1999498 #11389301 #11477613 #12410208 #12560872 |
| CPT2 |
255110 |
Arrhythmia |
arrhythmia; conduction impairment; atrial tachycardias
|
cardiovascular |
2748260 10577999 |
| CPT2 |
600649 |
Arrhythmia |
arrhythmia; bradycardia; tachycardia; heart block; arrhythmic episodes
|
cardiovascular |
1999498 11389301 12410208 12560872 |
| CPT2 |
600649 |
Cardiomyopathy |
cardiomegaly; dilated; atrial enlargement; ventricular enlargement; myocardium thickened
|
cardiovascular |
1528846 1999498 11477613 12560872 |
| CPT2 |
600649 |
Cardiorespiratory-arrest |
sudden infant death; cardiorespiratory insufficieny; cardiorespiratory failure
|
cardiovascular |
1528846 11389301 12410208 12560872 |
| CPT2 |
255110 |
Vascular-diseases |
|
cardiovascular |
#2748260 |
| CPT2 |
255110 |
Hypertension |
|
cardiovascular |
2748260 |
| CPT2 |
255110 |
Hematologic-diseases |
|
hematologic |
#8201482 #8815169 |
| CPT2 |
600649 |
Hematologic-diseases |
|
hematologic |
#1999498 |
| CPT2 |
600649 |
Blood-coagulation-disorders |
fibrinogen decreased
|
hematologic |
1999498 |
| CPT2 |
255110 |
Leukocyte-disorders |
|
hematologic |
#8201482 #8815169 |
| CPT2 |
255110 |
Leukocytosis |
elevated leukocyte count; neutrophils elevated; neutrophil leukocytosis; WBC abnormal
|
hematologic |
8201482 8815169 |
| CPT2 |
600649 |
Skin-diseases |
|
dermatologic |
#1528846 |
| CPT2 |
600649 |
Sweat-gland-diseases |
|
dermatologic |
#1528846 |
| CPT2 |
600649 |
Hyperhidrosis |
sweating episodes
|
dermatologic |
1528846 |
| CPT2 |
255110 |
Metabolic-diseases |
|
metabolic |
#2748260 #8201482 #11999976 #12752755 #15642848 |
| CPT2 |
600649 |
Metabolic-diseases |
|
metabolic |
#1528846 #1999498 #8682496 #9600456 #11389301 #11477613 #12410208 |
| CPT2 |
600649 |
Acid-base-imbalance |
|
metabolic |
#1999498 #8682496 #9600456 #11389301 #11477613 |
| CPT2 |
600649 |
Acidosis |
lactic acidosis; metabolic acidosis; blood acidosis
|
metabolic |
1999498 8682496 9600456 11389301 11477613 |
| CPT2 |
600649 |
Hypoketosis |
|
metabolic |
8682496 |
| CPT2 |
600649 |
Metabolic-brain-diseases |
CSF protein levels decreased
|
metabolic |
12410208 |
| CPT2 |
600649 |
Glucose-metabolism-disorders |
|
metabolic |
#1528846 #1999498 #8682496 #11389301 #12410208 |
| CPT2 |
600649 |
Hypoglycemia |
hypoketotic; nonketotic
|
metabolic |
1528846 1999498 8682496 11389301 12410208 |
| CPT2 |
600649 |
Hyperammonemia |
ammonia levels elevated
|
metabolic |
1999498 8682496 11389301 |
| CPT2 |
600649 |
Hyperbilirubinemia |
|
metabolic |
11477613 |
| CPT2 |
255110 |
Phosphorus-metabolism-disorders |
|
metabolic |
#2748260 |
| CPT2 |
255110 |
Hyperphosphatemia |
|
metabolic |
2748260 |
| CPT2 |
255110 |
Water-electrolyte-imbalance |
|
metabolic |
#2748260 |
| CPT2 |
600649 |
Water-electrolyte-imbalance |
|
metabolic |
#1999498 #11389301 #12410208 |
| CPT2 |
255110 |
Hyperkalemia |
potassium levels elevated
|
metabolic |
2748260 |
| CPT2 |
600649 |
Hyperkalemia |
potassium levels elevated
|
metabolic |
1999498 11389301 12410208 |
| CPT2 |
255110 |
Hypocalcemia |
calcium levels abnormal
|
metabolic |
2748260 |
| CPT2 |
255110 |
Acylcarnitine-profile-abnormal |
elevated long chain acylcarnitines; elevated C16:0 C18:1 C18:2 acylcarnitines; palmitoylcarnitine elevated
|
metabolic |
8201482 11999976 15642848 |
| CPT2 |
600649 |
Acylcarnitine-profile-abnormal |
elevated long chain acylcarnitines; elevated C16:0 C18:1 C18:2 acylcarnitines
|
metabolic |
9600456 11389301 12410208 |
| CPT2 |
255110 |
Carnitine-levels-abnormal |
decreased total carnitine; decreased free carnitine; elevated esterified carnitine
|
metabolic |
12752755 |
| CPT2 |
600649 |
Carnitine-levels-abnormal |
decreased total carnitine; decreased free carnitine; elevated esterified carnitine
|
metabolic |
1999498 9600456 12410208 |
| CPT2 |
600649 |
Fatty-acids-abnormal |
palmitic acids abnormal
|
metabolic |
1528846 1999498 11477613 |
| CPT2 |
600649 |
Organic-acids-abnormal |
dicarboxylic aciduria; adipic aciduria; suberic aciduria; sebacic aciduria; lactic aciduria; pyruvic aciduria
|
metabolic |
8682496 #9600456 11389301 |
| CPT2 |
600649 |
Dicarboxylic-aciduria |
dicarboxylic acids elevated; saturated and unsaturated dicarboxylic acids elevated
|
metabolic |
8682496 9600456 11389301 |
| CPT2 |
255110 |
Immune-system-diseases |
|
immunologic |
#8201482 #8815169 #11999976 #15642848 #15776096 |
| CPT2 |
255110 |
Infections |
infection triggered episodes; flu like illnesses
|
immunologic |
8201482 8815169 11999976 15642848 15776096 |
| CPT2 |
600649 |
Body-temperature-changes |
|
miscellaneous |
#1999498 #8682496 #9600456 #12410208 |
| CPT2 |
600649 |
Fever |
episode; malignant hyperthermia; anesthesia related
|
miscellaneous |
1999498 8682496 9600456 12410208 |
| CPT2 |
255110 |
Exercise-intolerance |
exercise related myalgia; fatigue; chronic fatigue
|
miscellaneous |
8201482 8786066 8815169 10090476 10862092 11999976 12752755 15642848 |
| CPT2 |
600649 |
Growth-disorders |
|
miscellaneous |
#12560872 |
| CPT2 |
600649 |
Growth-deficiency |
growth retardation; intrauterine
|
miscellaneous |
12560872 |
| CPT2 |
600649 |
Dysmorphism-and-abnormalities |
mild dysmorphic features; high arched palate; narrow palate; facial anomalies; cerebral malformations; low set ears; posteriorly rotated ears; bulbous nose; prominent forehead; hypoplastic toenails
|
miscellaneous |
11389301 11477613 12410208 |
| CPT2 |
255110 |
Creatine-kinase-abnormal |
elevated; serum
|
miscellaneous |
8201482 8786066 8815169 9600456 10398215 10862092 11999976 15776096 |
| CPT2 |
600649 |
Creatine-kinase-abnormal |
MM elevated; MB elevated
|
miscellaneous |
1999498 11477613 |
| CPT2 |
255110 |
Carnitine-responsive |
supplementation with carnitine may improve the outcome of the migraine as well as the carnitine associated symptoms
|
miscellaneous |
12752755 |
