| C0002871 |
BXGD000132 |
Anemia |
Hemic and Lymphatic Diseases |
| C0002896 |
BXGD000153 |
Sideroblastic anemia |
Hemic and Lymphatic Diseases |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004610 |
BXGD000281 |
Bacteremia |
Pathological Conditions, Signs and Symptoms; Infections |
| C0011847 |
BXGD000749 |
Diabetes |
Endocrine System Diseases |
| C0011849 |
BXGD000751 |
Diabetes Mellitus |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0011860 |
BXGD000755 |
Diabetes Mellitus, Non-Insulin-Dependent |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013362 |
BXGD000817 |
Dysarthria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0014772 |
BXGD000948 |
Red Blood Cell Count measurement |
|
| C0014800 |
BXGD000950 |
Erythroid hyperplasia |
Pathological Conditions, Signs and Symptoms |
| C0016719 |
BXGD001074 |
Friedreich Ataxia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0019214 |
BXGD001307 |
Hepatosplenomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases |
| C0022107 |
BXGD001530 |
Irritable Mood |
Behavior and Behavior Mechanisms |
| C0022346 |
BXGD001537 |
Icterus |
Pathological Conditions, Signs and Symptoms |
| C0023520 |
BXGD001678 |
Leukodystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0023882 |
BXGD001710 |
Little's Disease |
Nervous System Diseases |
| C0026848 |
BXGD001941 |
Myopathy |
Musculoskeletal Diseases; Nervous System Diseases |
| C0027066 |
BXGD001966 |
Myoclonus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0034935 |
BXGD002497 |
Babinski Reflex |
|
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037772 |
BXGD002703 |
Spastic Paraplegia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038002 |
BXGD002723 |
Splenomegaly |
Pathological Conditions, Signs and Symptoms |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0149721 |
BXGD003349 |
Left Ventricular Hypertrophy |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0221018 |
BXGD004366 |
Hereditary sideroblastic anemia |
Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases |
| C0221278 |
BXGD004435 |
Anisocytosis |
|
| C0231686 |
BXGD004508 |
Gait, Unsteady |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0238644 |
BXGD004949 |
Anemia, severe |
Hemic and Lymphatic Diseases |
| C0241013 |
BXGD005075 |
Increased serum ferritin |
|
| C0241224 |
BXGD005087 |
Spinal cord lesion |
Nervous System Diseases |
| C0262630 |
BXGD005262 |
Reduced concentration span |
Behavior and Behavior Mechanisms |
| C0268307 |
BXGD005892 |
Conjugated hyperbilirubinemia |
Pathological Conditions, Signs and Symptoms |
| C0268559 |
BXGD005984 |
Hyperglycinemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0270612 |
BXGD006081 |
Leukoencephalopathy |
Nervous System Diseases |
| C0282193 |
BXGD006798 |
Iron Overload |
Nutritional and Metabolic Diseases |
| C0333912 |
BXGD006973 |
Hypochromatism |
|
| C0343401 |
BXGD007623 |
MRSA - Methicillin resistant Staphylococcus aureus infection |
Infections |
| C0344482 |
BXGD007678 |
Hypoplasia of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0454596 |
BXGD008842 |
Dysarthria, Spastic |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0524587 |
BXGD009232 |
Mean Corpuscular Volume (result) |
|
| C0575081 |
BXGD009512 |
Gait abnormality |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751748 |
BXGD010573 |
Nonketotic Hyperglycinemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0855790 |
BXGD011088 |
Decreased mean corpuscular volume |
|
| C1261502 |
BXGD011856 |
Finding of Mean Corpuscular Hemoglobin |
|
| C1835993 |
BXGD014068 |
Loss of ability to walk in early childhood |
|
| C1836830 |
BXGD014165 |
Developmental regression |
Mental Disorders |
| C1839888 |
BXGD014424 |
Decreased activity of the pyruvate dehydrogenase complex |
|
| C1848701 |
BXGD014967 |
Elevated hepatic transaminase |
|
| C1849156 |
BXGD015017 |
Spastic Ataxia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1859520 |
BXGD015907 |
Progressive spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2673914 |
BXGD017232 |
Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive |
Hemic and Lymphatic Diseases |
| C2698117 |
BXGD017446 |
Anisocyte Measurement |
|
| C2700617 |
BXGD017474 |
Irritation - emotion |
Behavior and Behavior Mechanisms |
| C3665347 |
BXGD019279 |
Visual Impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C4022891 |
BXGD021028 |
Elevated hepatic iron concentration |
|
| C4225155 |
BXGD022161 |
ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY |
|
| C4225178 |
BXGD022168 |
Childhood-onset spasticity with hyperglycinemia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C4225425 |
BXGD022275 |
ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY |
|
| C4551511 |
BXGD023330 |
X-linked sideroblastic anemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C4551915 |
BXGD023441 |
Gait Disturbance, CTCAE |
|
| C4552810 |
BXGD023525 |
Irritability, CTCAE |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|