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{"sheet":"VALIDATION","index":0,"n_rows":102,"n_cols":9,"rows_kept":102,"cut":false,"hidden":false,"merged":[[0,1,0,8],[1,2,1,3],[1,5,1,8]]}
[null,"Inborn error of metabolism"]
[null,"WIKIPEDIA TERMS","METAMAP TERMS",null,"TVP VALIDATION","DISNET VALIDATION"]
[null,"NAME","NAME","SEMANTIC TYPES","VALIDATED","WIKIPEDIA","METAMAP","TVP","RELEVANT"]
[1,"abdominal, pain","Abdominal pain","[sosy]",true,"YES","YES","YES","YES"]
[2,"biopsy","Biopsy","[diap]",true,"YES","YES","YES","FPREAL"]
[3,"blindness","Blindness, NOS","[fndg]",true,"YES","YES","YES","YES"]
[4,"bone, marrow, biopsy","Bone marrow biopsy","[diap]",true,"YES","YES","YES","YES"]
[5,"cramps","Muscle cramp","[sosy]",true,"YES","YES","YES","YES"]
[6,"deafness","Deafness","[fndg]",true,"YES","YES","YES","YES"]
[7,"dehydration","Dehydration","[dsyn]",true,"YES","YES","YES","YES"]
[8,"diabetes","Diabetes mellitus, NOS","[dsyn]",true,"YES","YES","YES","YES"]
[9,"diarrhoea","Diarrhea","[sosy]",true,"YES","YES","YES","YES"]
[10,"encephalopathy","Encephalopathy, NOS","[dsyn]",true,"YES","YES","YES","YES"]
[11,"enlarged, heart","Cardiomegaly","[fndg]",true,"YES","YES","YES","YES"]
[12,"enlarged, lymph, nodes","Lymphadenopathy","[fndg]",true,"YES","YES","YES","YES"]
[13,"enlarged, spleen","Splenomegaly","[fndg]",true,"YES","YES","YES","YES"]
[14,"excessive, hair, growth","Hypertrichosis","[dsyn]",true,"YES","YES","YES","YES"]
[15,"growth, failure","Failure to thrive","[dsyn]",true,"YES","YES","YES","YES"]
[16,"heart, failure","Heart failure","[dsyn]",true,"YES","YES","YES","YES"]
[17,"hypertension","Hypertensive disease","[dsyn]",true,"YES","YES","YES","YES"]
[18,"hyperventilation","Hyperventilation","[fndg]",true,"YES","YES","YES","YES"]
[19,"hypogonadism","Hypogonadism","[dsyn]",true,"YES","YES","YES","YES"]
[20,"hypothyroidism","Hypothyroidism","[dsyn]",true,"YES","YES","YES","YES"]
[21,"immunodeficiency","Unspecified immunity deficiency","[dsyn]",true,"YES","YES","YES","YES"]
[22,"joint, pain","Arthralgia","[sosy]",true,"YES","YES","YES","YES"]
[23,"kidney, failure","Renal insufficiency","[dsyn]",true,"YES","YES","YES","YES"]
[24,"liver, enlargement","Hepatomegaly","[sosy]",true,"YES","YES","YES","YES"]
[25,"low, blood, pressure","Hypotension","[fndg]",true,"YES","YES","YES","YES"]
[26,"low, platelet, count","Decreased platelet count","[fndg]",true,"YES","YES","YES","YES"]
[27,"muscle, weakness","Muscle weakness","[sosy]",true,"YES","YES","YES","YES"]
[28,"necropsy","Autopsy","[diap]",true,"YES","YES","YES","FPREAL"]
[29,"oedema","Edema","[fndg]",true,"YES","YES","YES","YES"]
[30,"pain","Pain","[sosy]",true,"YES","YES","YES","FPREAL"]
[31,"pain, skin","Pain of skin","[sosy]",true,"YES","YES","YES","FPREAL"]
[32,"precocious, puberty","Precocious puberty","[dsyn]",true,"YES","YES","YES","YES"]
[33,"rash, skin","Exanthema","[sosy]",true,"YES","YES","YES","YES"]
[34,"respiratory, failure","Respiratory failure, NOS","[dsyn]",true,"YES","YES","YES","YES"]
[35,"seizures","Convulsions","[sosy]",true,"YES","YES","YES","YES"]
[36,"stroke","Cerebrovascular accident","[dsyn]",true,"YES","YES","YES","YES"]
[37,"urine, analysis","Urinalysis","[lbpr]",true,"YES","YES","YES","YES"]
[38,"vomiting","Vomiting","[sosy]",true,"YES","YES","YES","YES"]
[39,"weightloss","Weight decreased","[fndg]",true,"YES","YES","YES","YES"]
[40,"abnormal, result","Abnormal result","[fndg]",false,"YES","YES","NO","NO"]
[41,"adrenal, insufficiency","Adrenal insufficiency","[dsyn]",false,"YES","YES","NO","YES"]
[42,"analysis","Analysis","[lbpr]",false,"YES","YES","NO","NO"]
[43,"assay","Assay","[lbpr]",false,"YES","YES","NO","NO"]
[44,"biochemical, testing","Biochemical test","[lbpr]",false,"YES","YES","NO","YES"]
[45,"congenital, metabolic, diseases, disease","Inborn error of metabolism, NOS","[cgab, dsyn]",false,"YES","YES","NO","NO"]
[46,"detected","Detected","[fndg]",false,"YES","YES","NO","NO"]
[47,"diagnosis","Diagnosis","[fndg]",false,"YES","YES","NO","NO"]
[48,"diagnostic, test","Diagnostic procedure","[diap]",false,"YES","YES","NO","NO"]
[49,"disorder, disorders, diseases","Disease","[dsyn]",false,"YES","YES","NO","NO"]
[50,"enzyme, testing","Enzyme measurement","[lbpr]",false,"YES","YES","NO","YES"]
[51,"failure, to, thrive","Pediatric failure to thrive","[dsyn]",false,"YES","YES","NO","YES"]
[52,"gas, chromatography","Gas chromatography measurement, NOS","[lbpr]",false,"YES","YES","NO","YES"]
[53,"gene, sequencing","Nucleic acid sequencing","[lbpr]",false,"YES","YES","NO","YES"]
[54,"genetic, disorders","Genetic screening for disorder","[lbpr]",false,"YES","YES","NO","NO"]
[55,"liquid, chromatography","Liquid chromatography measurement, NOS","[lbpr]",false,"YES","YES","NO","NO"]
[56,"liver, failure","Liver failure NOS","[dsyn]",false,"YES","YES","NO","YES"]
[57,"low, red, blood, cell, count","RBC count low","[fndg]",false,"YES","YES","NO","YES"]
[58,"lumps","Mass of body structure","[fndg]",false,"YES","YES","NO","YES"]
[59,"mass, spectrometry","Mass spectrometry","[lbpr]",false,"YES","YES","NO","YES"]
[60,"myocardial, infarction","Electrocardiogram: myocardial infarction (finding)","[lbtr]",false,"YES","YES","NO","YES"]
[61,"newborn","Newborn (finding)","[fndg]",false,"YES","YES","NO","NO"]
[62,"newborn, screening, test","Neonatal screening","[diap]",false,"YES","YES","NO","YES"]
[63,"presenting, complaint","Chief complaint (finding)","[fndg]",false,"YES","YES","NO","NO"]
[64,"test","Test finding","[fndg]",false,"YES","YES","NO","NO"]
[65,"tests, test","Laboratory procedures","[lbpr]",false,"YES","YES","NO","NO"]
[66,"turned","Does turn (finding)","[fndg]",false,"YES","YES","NO","NO"]
[67,"urine, chromatography","Urine chromatography","[lbpr]",false,"YES","YES","NO","NO"]
[68,"used","Used by","[fndg]",false,"YES","YES","NO","NO"]
[69,"psychosis","Psychotic disorder","[mobd]",true,"YES","YES","YES","YES"]
[70,"jaundice","Icterus","[patf]",true,"YES","YES","YES","YES"]
[71,"dementia","Dementia","[mobd]",true,"YES","YES","YES","YES"]
[72,"abnormal, behaviour","Abnormal behavior","[mobd]",true,"YES","YES","YES","YES"]
[73,"agnosia","Agnosia","[mobd]",true,"YES","YES","YES","YES"]
[74,"delayed, puberty","Delayed puberty NOS","[patf]",true,"YES","YES","YES","YES"]
[75,"cancer","Primary malignant neoplasm","[neop]",false,"YES","YES","NO","YES"]
[76,"developmental, delay","Developmental delay (disorder)","[mobd]",false,"YES","YES","NO","YES"]
[77,"abnormalities, congenital, malformations","Congenital abnormality","[cgab]",false,"YES","YES","NO","YES"]
[78,"ambiguous, genitalia","Ambiguous genitalia","[cgab]",false,"YES","YES","NO","YES"]
[]
[null,"abnormal pigmentation",null,null,null,"YES","NO","NO","FN"]
[null,"lack of pigmentation",null,null,null,"YES","NO","NO","FN"]
[null,"bumps",null,null,null,"YES","NO","NO","FN"]
[null,"Dental abnormalities",null,null,null,"YES","NO","NO","FN"]
[null,"Excessive urination",null,null,null,"YES","NO","NO","FN"]
[null,"Unusual facial features",null,null,null,"YES","NO","NO","FN"]
[null,"depression",null,null,null,"YES","NO","NO","FN"]
[null,"Ferric chloride test",null,null,null,"YES","NO","NO","FN"]
[null,"Ninhydrin paper chromatography",null,null,null,"YES","NO","NO","FN"]
[null,"Guthrie bacterial inhibition assay",null,null,null,"YES","NO","NO","FN"]
[null,"The dried blood spot",null,null,null,"YES","NO","NO","FN"]
[null,"Tandem Mass Spectrometry (MS/MS)",null,null,null,"YES","NO","NO","FN"]
[null,"IEX-Ninhydrin post column derivitization liquid ion-exchange chromatography ",null,null,null,"YES","NO","NO","FN"]
[null,"GC/MS",null,null,null,"YES","NO","NO","FN"]
[null,"DNA Testing",null,null,null,"YES","NO","NO","FN"]
[null,"Quantitative measurement of amino acids in plasma and urine",null,null,null,"YES","NO","NO","FN"]
[null,"Urine organic acid analysis",null,null,null,"YES","NO","NO","FN"]
[null,"Tissue biopsy or necropsy: liver, muscle, brain, bone marrow",null,null,null,"YES","NO","NO","FN"]
[null,"Skin biopsy and fibroblast cultivation for specific enzyme testing",null,null,null,"YES","NO","NO","FN"]
[null,"Tissue biopsy or necropsy: liver, muscle, brain",null,null,null,"YES","NO","NO","FN"]