Ontology designed for the definition of parameters for the purpose of simulation by Discrete Events
Quantitative enzymatic determination of biotinidase activity in serum and plasma,and analysis of mutations of the biotinidase gene.
Cost of diagnosis for profound BD in Spain. Includes retest for screening, two diagnostic tests and two blood extraction.
Cost for annual ophthalmologic, auditory, and medical geneticist or metabolic specialist evaluations, and urinary organic acid and acylcarnitine analyses
Cost of screening test for profound biotinidase deficiency in Spain
Cost of annual use of biotin for profound biotinidase deficiency
Ophthalmologic, auditory, and medical geneticist or metabolic specialist evaluations and urinary organic acid and acylcarnitine analyses.
The Genetic and Rare Diseases Information Center (GARD) is a program which includes an online database of disease-specific information. The Orphanet Rare Diseases Ontology (ORDO), which is anontology that captures relationships among diseases, genes and other features The Online Mendelian Inheritance in Man (OMIM), which is an online catalog on phenotypes and genotypes, and the relationships between them.
Measurement of biotinidase activity in blood-saturated filter paper samples on enzymatic assay or semiquantitative fluorometric determination. After a positive, the analysis is repeated twice.
Measurement of biotinidase activity in blood-saturated filter paper samples on enzymatic assay or semiquantitative fluorometric determination
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Country in which the cost data is collected
Indicates the time cycle of how often the treatment, the follow-up test or their respective strategies have to be applied. In the case of a manifestation of the disease, it will indicate how many times a year the symptom manifests itself. By default = 1, for the Manifestations.
Interval in which the indicated dose of drug should be given.
Stores the identifier of an instance. The objective of this field is to facilitate the identification and relationship between instances with a view to software programming.
The prevalence of a disease is the total number of individuals presenting an attribute or disease at a time or during a period divided by the population at that point in time or in the middle of the period. Quantifies the proportion of people in a population who have a disease (or any other event) at a given time and provides an estimate of the proportion of subjects in that population who have the disease at that time.
Age range in which the drug will be delivered.
The Sensitivity in epidemiology is the Probability of correctly classifying a sick individual, that is, the Probability that a positive result will be obtained in a diagnostic test for a sick subject. The Sensitivity is, therefore, the ability of the complementary test to detect the disease. Sensitivity is the percentage of true positives or the Probability that the test is positive if the disease is present; False negatives are sick subjects diagnosed as healthy.
The Specificity of a test is the Probability that a healthy subject will have a negative test result. Specificity is the percentage of true negatives or the Probability that the test will be negative if the disease is not present. False positives are healthy subjects diagnosed as sick.
ONETIME: the cost/utility applies only once at the time of the event. LIFETIME: the cost/utility the cost represents the total applied to the patient's life. ANNUAL: the cost/utility indicates that the indicated value affects annually throughout the patient's life.
Time limit in which the sample must be made. For example on the third day of birth. This value must be expressed in number of days.
Year in which the cost data is collected
hasDiseaseClinicalDiagnosisStrategy Domain Disease
hasDevelopment Domain DevelopmentModification
DevelopmentModification DisjointWith Disease
PBD_ProfoundBiotinidaseDeficiency Type Disease