- 1. 111 In-B3
- [A radioimmunoconjugate of monoclonal antibody (MoAb) B3 labeled with Indium 111 (In-111). MoAb B3 is a murine MoAb that recognizes a Lewis Y carbohydrate antigen present on the surface of many carcinomas. This radioimmunoconjugate emits gamma radiation and X-Ray photons that can be captured by gamma camera allowing imaging of Lewis Y expressing tissues. ( NCI )] (UMLS (NCI) C0935762) In 111 Monoclonal Antibody B3;
Indium In 111 Monoclonal Antibody B3 =Amino Acid, Peptide, or Protein; Pharmacologic Substance; Immunologic Factor | - 10. inborn lipoprotein disorder
- [ ] (UMLS (CSP) C0920559) =Disease or Syndrome
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- 2. inborn aminoacidopathy
- [ ] (UMLS (CSP) C0598674) =Disease or Syndrome ;
| - 11. inborn lysosomal enzyme disorder
- [inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates. ( CSP )] (UMLS (CSP) C0085078) =Disease or Syndrome ;
=Congenital Metabolic Disorder;
=cholesterol ester storage disease;
alpha fucosidase deficiency;
Gangliosidoses;
I cell disease;
beta galactocerebrosidase deficiency;
arylsulfatase A deficiency;
Mucopolysaccharidoses;
Sphingolipidoses;
Wolman Disease;
mannosidase deficiency;
cholesterol ester storage disease;
Mucopolysaccharidoses;
Wolman Disease;
Lysosomal Storage Diseases, Nervous System;
mannosidase deficiency |
- 3. inborn aminoaciduria
- [ ] (UMLS (CSP) C0598675) =Disease or Syndrome ;
| - 12. inborn metabolism disorder clinical registry
- [ ] (UMLS (CSP) C0599086) =Intellectual Product ;
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- 4. inborn biological transport disorder
- [condition in which there is a deviation or interruption in the movement of materials (including biochemical substances and drugs) through a biological system at the cellular level; the defects in transport can occur within intracellular and extracellular compartments. ( CSP )] (UMLS (CSP) C0596765) =Disease or Syndrome =Congenital Metabolic Disorder;
=Bartter's Disease;
cystic fibrosis;
De Toni-Debre-Fanconi Syndrome;
inborn renal tubular transport disorder;
hereditary carnitine deficiency myopathy;
vitamin B12 transport defect;
familial hypophosphatemia in rickets;
congenital sucrose isomaltose malabsorption | - 13. inborn metabolism disorder diagnosis
- [determination of the presence of errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero based on symptoms, medical history, risk factors, and clinical tests. ( CSP )] (UMLS (CSP) C0596766) =Diagnostic Procedure =genetic disorder diagnosis;
metabolism disorder diagnosis |
- 5. inborn epithelial transport disorder
- [ ] (UMLS (CSP) C0598676) =Disease or Syndrome ;
| - 14. inborn metal metabolism disorder
- [genetically determined biochemical disorders in metal absorption, metal excretion, metal transport, or incorporation of metal to protein or enzyme. ( CSP )] (UMLS (CSP) C0025534) =Disease or Syndrome =Congenital Metabolic Disorder;
metal metabolism disorder =cerebral pseudosclerosis;
kinky hair syndrome;
familial periodic paralysis;
hereditary hemochromatosis;
diabetes bronze;
cerebral pseudosclerosis;
hypophosphatasia;
Hypophosphatemia, Familial;
kinky hair syndrome;
familial periodic paralysis;
Albright's hereditary osteodystrophy;
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- 6. inborn immunodeficiency
- [genetically or developmently determined deficiency of immune response or disorder that is characterized by deficient immune response. ( CSP )] (UMLS (CSP) C0392207) =Disease or Syndrome ;
=hypoimmunity;
Congenital Metabolic Disorder =DiGeorge Anomaly;
Phagocyte Bactericidal Dysfunction;
Aldrich syndrome;
combined T and B cell inborn immunodeficiency;
complement deficiency | - 15. inborn renal tubular transport disorder
- [genetically determined disorders of the reabsorptive functions of the kidney with regard to specific nephron segments responsible for specific transport functions, classifiable by proximal nephron function, loop of Henle function, and distal nephron function; transport defects can be selective or nonselective. ( CSP )] (UMLS (CSP) C0035091) =Disease or Syndrome =Kidney Disease;
Congenital Metabolic Disorder;
inborn biological transport disorder;
=Acidosis, Renal Tubular;
Aminoaciduria, Renal;
cystine storage disease;
cystinuria;
cerebrooculorenal syndrome;
Acidosis, Renal Tubular;
Aminoaciduria, Renal;
cystine storage disease;
DIABETES RENALA;
Hypophosphatemia, Familial;
cerebrooculorenal syndrome;
Pseudohypoaldosteronism;
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- 7. inborn lipid disorder
- [ ] (UMLS (CSP) C0920558) =Disease or Syndrome
| - 16. inborn reticuloendothelial disorder
- [ ] (UMLS (CSP) C0598677) =Disease or Syndrome ;
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- 8. inborn lipid storage disorder
- [disturbance of lipid metabolism with abnormal deposit of lipids in the cells. ( CSP )] (UMLS (CSP) C0023794) =Disease or Syndrome =Lipid Metabolism, Inborn Errors;
inborn lipid/lipoprotein disorder =cholesterol ester storage disease;
I cell disease;
hereditary ceroid lipofuscinosis;
heredopathia atactica polyneuritiformis;
Sphingolipidoses;
Wolman Disease;
cerebrotendinous xanthomatosis;
cholesterol ester storage disease;
Lipoidproteinosis;
hereditary ceroid lipofuscinosis;
heredopathia atactica polyneuritiformis;
Sjogren Larsson syndrome;
Sphingolipidoses;
Wolman Disease | - 17. inborn urea cycle disorder
- [inherited errors in the metabolic reactions occurring in the liver that convert ammonia to urea, resulting from inborn genetic mutations. ( CSP )] (UMLS (CSP) C0596767) =Disease or Syndrome =Amino Acid Metabolism, Inborn Errors;
=arginosuccinate synthetase deficiency;
arginase deficiency;
arginosuccinate lyase deficiency;
OCP deficiency;
CAPS deficiency;
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- 9. inborn lipid/lipoprotein disorder
- [genetically determined biochemical disorders in lipid/lipoprotein transport, apolipoprotein synthesis, HDL synthesis, enzyme deficiency or gene mutation that involves the lipid/lipoprotein metabolism pathway. ( CSP )] (UMLS (CSP) C0178714) =Disease or Syndrome =Congenital Metabolic Disorder;
Alteracoes do metabolismo lipidico =inborn lipid storage disorder;
RSH Syndrome;
familial hypolipoproteinemia;
familial hyperlipoproteinemia | - 18. inbreeding
- [the crossing of closely related plants or animals. ( CSP )] (UMLS (CSP) C0021144) =Organism Function ;
=Genetics, Population;
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