| IVD |
243500 |
Digestive-system-diseases |
|
gastrointestinal |
#2124776 #8765634 #8830183 #10191353 #12911192 #15486829 #15624372 #16040844 #16602101 |
| IVD |
243500 |
Biliary-tract-diseases |
|
gastrointestinal |
#10191353 |
| IVD |
243500 |
Cholestasis |
|
gastrointestinal |
10191353 |
| IVD |
243500 |
Liver-diseases |
|
gastrointestinal |
#10191353 |
| IVD |
243500 |
Fatty-liver |
liver fatty change; extramedullary hematopoiesis
|
gastrointestinal |
10191353 |
| IVD |
243500 |
Hepatomegaly |
|
gastrointestinal |
10191353 |
| IVD |
243500 |
Abdominal-pain |
colicky pain; midepigastric abdominal tenderness
|
gastrointestinal |
8765634 |
| IVD |
243500 |
Feeding-difficulties |
poor feeding
|
gastrointestinal |
8830183 10191353 16040844 16602101 |
| IVD |
243500 |
Diarrhea |
|
gastrointestinal |
12911192 |
| IVD |
243500 |
Vomiting |
nausea
|
gastrointestinal |
2124776 8765634 8830183 12911192 15486829 15624372 16040844 16602101 |
| IVD |
243500 |
Respiratory-tract-diseases |
|
respiratory |
#16040844 |
| IVD |
243500 |
Respiration-disorders |
|
respiratory |
#16040844 |
| IVD |
243500 |
Hyperventilation |
tachypnea
|
respiratory |
16040844 |
| IVD |
243500 |
Nervous-system-diseases |
|
neurologic |
#2124776 #8765634 #8830183 #9673537 #10191353 #10677295 #12911192 #15486829 #15624372 #16040844 #16602101 |
| IVD |
243500 |
Central-nervous-system-diseases |
|
neurologic |
#2124776 #10191353 #12911192 #15486829 #16602101 |
| IVD |
243500 |
Brain-diseases |
|
neurologic |
#2124776 #10191353 #12911192 #15486829 #16602101 |
| IVD |
243500 |
Brain-edema |
|
neurologic |
16602101 |
| IVD |
243500 |
Encephalopathy |
acute encephalopathy; neonatal
|
neurologic |
2124776 15486829 |
| IVD |
243500 |
Seizures |
acidosis progressing to seizures
|
neurologic |
12911192 16602101 |
| IVD |
243500 |
Electroencephalogram-abnormal |
low voltage electroencephalogram; delta wave bursts; shock waves
|
neurologic |
10191353 |
| IVD |
243500 |
Neurologic-manifestations |
|
neurologic |
#8765634 #8830183 #9673537 #10191353 #10677295 #12911192 #15486829 #15624372 #16040844 #16602101 |
| IVD |
243500 |
Neurobehavioral-manifestations |
|
neurologic |
#8765634 #8830183 #9673537 #10191353 #10677295 #12911192 #15486829 #15624372 #16040844 #16602101 |
| IVD |
243500 |
Consciousness-disorders |
coma; mental state altered
|
neurologic |
8830183 10191353 12911192 15486829 15624372 16040844 16602101 |
| IVD |
243500 |
Mental-retardation |
mild to moderate mental retardation
|
neurologic |
9673537 10677295 16602101 |
| IVD |
243500 |
Developmental-delay |
psychomotor retardation; variable
|
neurologic |
2124776 9673537 10677295 12911192 15486829 16602101 |
| IVD |
243500 |
Irritability |
episodes
|
neurologic |
8765634 |
| IVD |
243500 |
Lethargy |
listlessness
|
neurologic |
8765634 8830183 10191353 12911192 15486829 16040844 |
| IVD |
243500 |
Reflexes-abnormal |
|
neurologic |
#10191353 |
| IVD |
243500 |
Hyporeflexia |
|
neurologic |
10191353 |
| IVD |
243500 |
Cardiovascular-diseases |
|
cardiovascular |
#9673537 #10191353 #12911192 #16602101 |
| IVD |
243500 |
Cardiorespiratory-arrest |
infant death
|
cardiovascular |
9673537 10191353 12911192 16602101 |
| IVD |
243500 |
Vascular-diseases |
|
cardiovascular |
#10191353 |
| IVD |
243500 |
Hypotension |
hypotensive
|
cardiovascular |
10191353 |
| IVD |
243500 |
Hematologic-diseases |
|
hematologic |
#2124776 #10191353 #12911192 #15624372 #16602101 |
| IVD |
243500 |
Anemia |
|
hematologic |
2124776 |
| IVD |
243500 |
Blood-platelet-disorders |
|
hematologic |
#2124776 #10191353 #15624372 #16602101 |
| IVD |
243500 |
Thrombocytopenia |
|
hematologic |
2124776 10191353 15624372 16602101 |
| IVD |
243500 |
Bone-marrow-diseases |
hypoplastic bone marrow; myelopoiesis abnormal; promyelocytes abnormal; myeloblasts elevated; myelodysplasia; extramedullary hematopoiesis; bone marrow suppression
|
hematologic |
10191353 16602101 |
| IVD |
243500 |
Leukocyte-disorders |
|
hematologic |
#2124776 #10191353 #15624372 #16602101 |
| IVD |
243500 |
Leukopenia |
neutropenia
|
hematologic |
2124776 10191353 15624372 16602101 |
| IVD |
243500 |
Pancytopenia |
|
hematologic |
2124776 10191353 12911192 15624372 16602101 |
| IVD |
243500 |
Metabolic-diseases |
|
metabolic |
#2124776 #8765634 #8830183 #9673537 #10191353 #10677295 #12911192 #15486829 #15624372 #16040844 #16602101 |
| IVD |
243500 |
Acid-base-imbalance |
|
metabolic |
#2124776 #8765634 #8830183 #10191353 #10677295 #12911192 #15624372 #16602101 |
| IVD |
243500 |
Acidosis |
lactic acidosis; ketosis; episodes; ketoacidosis
|
metabolic |
2124776 8765634 8830183 10191353 10677295 12911192 15624372 16602101 |
| IVD |
243500 |
Ketosis |
ketones elevated; ketonuria
|
metabolic |
2124776 8765634 8830183 10677295 12911192 15624372 16602101 |
| IVD |
243500 |
Glucose-metabolism-disorders |
|
metabolic |
#2124776 #8830183 #12911192 #16602101 |
| IVD |
243500 |
Hyperglycemia |
hyperglycaemia; severe hyperglycaemia; diabetic ketoacidosis; diabetic coma
|
metabolic |
2124776 8830183 12911192 16602101 |
| IVD |
243500 |
Hypoglycemia |
|
metabolic |
16602101 |
| IVD |
243500 |
Hyperammonemia |
ammonia levels elevated
|
metabolic |
2124776 12911192 16602101 |
| IVD |
243500 |
Hyperbilirubinemia |
jaundice; sclerae jaundice
|
metabolic |
10191353 |
| IVD |
243500 |
Aminoacid-levels-abnormal |
leucine decreased; isoleucine decreased; ornithine decreased; glycine elevated
|
metabolic |
8765634 10191353 |
| IVD |
243500 |
Water-electrolyte-imbalance |
|
metabolic |
#2124776 #8765634 #8830183 #12911192 #16040844 #16602101 |
| IVD |
243500 |
Dehydration |
|
metabolic |
2124776 8765634 8830183 12911192 16040844 16602101 |
| IVD |
243500 |
Hypocalcemia |
|
metabolic |
2124776 16602101 |
| IVD |
243500 |
Acylcarnitine-profile-abnormal |
elevated C5 acylcarnitine; isovalerylcarnitine
|
metabolic |
8830183 15486829 16602101 |
| IVD |
243500 |
Acylglycine-profile-abnormal |
elevated isovalerylglycine
|
metabolic |
2124776 8765634 8830183 15486829 16040844 16602101 |
| IVD |
243500 |
Carnitine-levels-abnormal |
decreased total carnitine; decreased free carnitine; elevated esterified carnitine; secondary carnitine deficiency
|
metabolic |
12911192 16602101 |
| IVD |
243500 |
Organic-acids-abnormal |
isovalerylglycinuria; 3 hydroxyisovalericaciduria; isovaleric aciduria; 4 isovaleric aciduria; methylsuccinic aciduria; isovalerylasparagine uria; isovalerylhistidine uria; isovaleryllysine uria; isovaleryltryptophan uria; acetyltryptophan uria; isovaleryl conjugates; acetyl amino conjugates; organic acidemia
|
metabolic |
#2124776 8765634 8830183 9673537 10191353 10677295 #12911192 15486829 16040844 16602101 |
| IVD |
243500 |
Hydroxyisovaleric-aciduria |
3 hydroxyisovaleric acid elevated; isovaleric acidemia
|
metabolic |
2124776 8765634 8830183 9673537 10191353 10677295 12911192 16602101 |
| IVD |
243500 |
Immune-system-diseases |
|
immunologic |
#2124776 #12911192 |
| IVD |
243500 |
Infections |
infection triggered; acute metabolic decompensation; respiratory tract infections
|
immunologic |
2124776 12911192 |
| IVD |
243500 |
Psychiatric-disorders |
|
psychiatric |
#8765634 #12911192 |
| IVD |
243500 |
Behavioral-symptoms |
|
psychiatric |
#8765634 #12911192 |
| IVD |
243500 |
Feeding-behavior |
protein avoidance; protein rich foods; meat products; self selected diet; dietary
|
psychiatric |
8765634 12911192 |
| IVD |
243500 |
Body-temperature-changes |
|
miscellaneous |
#8830183 #10191353 #16602101 |
| IVD |
243500 |
Fever |
|
miscellaneous |
8830183 |
| IVD |
243500 |
Hypothermia |
|
miscellaneous |
10191353 16602101 |
| IVD |
243500 |
Splenomegaly |
hepatosplenomegaly
|
miscellaneous |
10191353 |
| IVD |
243500 |
Odors |
body odor; sweaty feet; urine odor; dirty sock odor; unwashed body odor; pungent odor
|
miscellaneous |
2124776 8765634 9673537 10191353 12911192 16602101 |
