**Extreme early onset obesity**
Item
**Extreme early onset obesity**
boolean
C4013980 (UMLS CUI [1,1])
Using natural language processing we have developed and validated an NLP algorithm to detect cases and controls for extreme childhood obesity. Details of this algorithm can be found on the emerge network page (https://phekb.org), briefly:
Item
Using natural language processing we have developed and validated an NLP algorithm to detect cases and controls for extreme childhood obesity. Details of this algorithm can be found on the emerge network page (https://phekb.org), briefly:
boolean
C0027489 (UMLS CUI [1,1])
C1527148 (UMLS CUI [1,2])
C1519941 (UMLS CUI [1,3])
C0683473 (UMLS CUI [1,4])
C1511790 (UMLS CUI [1,5])
C1706256 (UMLS CUI [1,6])
C4553389 (UMLS CUI [1,7])
C4013980 (UMLS CUI [1,8])
Case inclusion:Height/Weight measurement is available for same day
Item
Case inclusion:Height/Weight measurement is available for same day
boolean
C0085973 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0005910 (UMLS CUI [1,3])
C0005890 (UMLS CUI [1,4])
C1292424 (UMLS CUI [1,5])
Age (in days at time of measurement): > 365 days and < 2190 days
Item
Age (in days at time of measurement): > 365 days and < 2190 days
boolean
C5239163 (UMLS CUI [1,1])
2 or more BMI measurement ≥ 99th percentile
Item
2 or more BMI measurement ≥ 99th percentile
boolean
C1305855 (UMLS CUI [1,1])
C0242485 (UMLS CUI [1,2])
C4696025 (UMLS CUI [1,3])
C0439547 (UMLS CUI [1,4])
More than 50% of BMI Measurements > 76th percentile
Item
More than 50% of BMI Measurements > 76th percentile
boolean
C1305855 (UMLS CUI [1,1])
C0242485 (UMLS CUI [1,2])
C1532337 (UMLS CUI [1,3])
C4321352 (UMLS CUI [1,4])
Control inclusion:Age (in days) at measurement > 1460 and < 2920
Item
Control inclusion:Age (in days) at measurement > 1460 and < 2920
boolean
C0009932 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C5239163 (UMLS CUI [1,3])
All BMI Measurements are ≥ 5th percentile and ≤ 85th percentile
Item
All BMI Measurements are ≥ 5th percentile and ≤ 85th percentile
boolean
C1305855 (UMLS CUI [1,1])
C0242485 (UMLS CUI [1,2])
C2911064 (UMLS CUI [1,3])
The determination of the BMI-for-age percentile is according to CDC criteria or WHO criteria.
Item
The determination of the BMI-for-age percentile is according to CDC criteria or WHO criteria.
boolean
C5235575 (UMLS CUI [1,1])
C0679228 (UMLS CUI [1,2])
C0007670 (UMLS CUI [1,3])
C0043237 (UMLS CUI [1,4])
**Eosinophilic Esophagitis (EoE)**
Item
**Eosinophilic Esophagitis (EoE)**
boolean
C0341106 (UMLS CUI [1,1])
Individuals need to meet at least one criterion from the list below in order to be included in the original study. Background information is required to analyze the data thoroughly including medical history, slides, and pathology reports, as well as information from CCHMC medical records:Patients undergoing diagnostic endoscopy, colonoscopy, venipuncture, and/or atopy testing at Cincinnati Children's Hospital Medical Center
Item
Individuals need to meet at least one criterion from the list below in order to be included in the original study. Background information is required to analyze the data thoroughly including medical history, slides, and pathology reports, as well as information from CCHMC medical records:Patients undergoing diagnostic endoscopy, colonoscopy, venipuncture, and/or atopy testing at Cincinnati Children's Hospital Medical Center
boolean
C1512693 (UMLS CUI [1,1])
C0243161 (UMLS CUI [1,2])
C2598106 (UMLS CUI [2,1])
C0262926 (UMLS CUI [2,2])
C0807321 (UMLS CUI [2,3])
C0020017 (UMLS CUI [2,4])
C0497101 (UMLS CUI [3,1])
C0009378 (UMLS CUI [3,2])
C0600406 (UMLS CUI [3,3])
C0392707 (UMLS CUI [3,4])
C0430022 (UMLS CUI [3,5])
C0020017 (UMLS CUI [3,6])
Patients cared for in CCHMC clinics, for example, Allergy/Immunology and Gastroenterology
Item
Patients cared for in CCHMC clinics, for example, Allergy/Immunology and Gastroenterology
boolean
C0030705 (UMLS CUI [1,1])
C0020017 (UMLS CUI [1,2])
C0002112 (UMLS CUI [1,3])
C0017163 (UMLS CUI [1,4])
Participants will be no younger than one year of age and no older than 65 years of age
Item
Participants will be no younger than one year of age and no older than 65 years of age
boolean
C4554048 (UMLS CUI [1,1])
C0001779 (UMLS CUI [1,2])
Family members of patients diagnosed with an eosinophilic disorder
Item
Family members of patients diagnosed with an eosinophilic disorder
boolean
C0086282 (UMLS CUI [1,1])
C0030705 (UMLS CUI [1,2])
C0011900 (UMLS CUI [1,3])
C1306759 (UMLS CUI [1,4])
Healthy human volunteers, including employees recruited from the laboratories at Cincinnati children research foundation and the Cincinnati Genomic Control Cohort.
Item
Healthy human volunteers, including employees recruited from the laboratories at Cincinnati children research foundation and the Cincinnati Genomic Control Cohort.
boolean
C1708335 (UMLS CUI [1,1])
C0599987 (UMLS CUI [1,2])
C2949735 (UMLS CUI [1,3])
C0022879 (UMLS CUI [1,4])
C0020017 (UMLS CUI [1,5])
C0016617 (UMLS CUI [1,6])
C0009932 (UMLS CUI [1,7])
**Familial Sample Repository (FSR) and Directed Sample Repository (DSR)**
Item
**Familial Sample Repository (FSR) and Directed Sample Repository (DSR)**
boolean
C2347026 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
Consistent with the hypothesis described above, this two studies will broadly target CCHMC patients (and their families) with suspected de novo genetic mutations predisposing them to physical developmental abnormalities, mental retardation, seizures, pulmonary dysfunction, and idiopathic inflammatory diseases, and the other disorders evaluated that can be identified with exome sequencing.
Item
Consistent with the hypothesis described above, this two studies will broadly target CCHMC patients (and their families) with suspected de novo genetic mutations predisposing them to physical developmental abnormalities, mental retardation, seizures, pulmonary dysfunction, and idiopathic inflammatory diseases, and the other disorders evaluated that can be identified with exome sequencing.
boolean
C1512571 (UMLS CUI [1,1])
C0947630 (UMLS CUI [1,2])
C5708048 (UMLS CUI [1,3])
C2985439 (UMLS CUI [1,4])
C0000768 (UMLS CUI [1,5])
C0205485 (UMLS CUI [1,6])
C0025362 (UMLS CUI [1,7])
C0036572 (UMLS CUI [1,8])
C1709770 (UMLS CUI [1,9])
C1290884 (UMLS CUI [1,10])
C0332240 (UMLS CUI [1,11])
C0205396 (UMLS CUI [1,12])
C3640077 (UMLS CUI [1,13])
**CLRR-Cincinnati Lupus Registry and Repository**
Item
**CLRR-Cincinnati Lupus Registry and Repository**
boolean
C0409974 (UMLS CUI [1,1])
C2985664 (UMLS CUI [1,2])
C5708278 (UMLS CUI [1,3])
The recruitment of subjects include Patients with lupus (affected) and non-affected family members enrolled through referrals from physicians and patients. To be enrolled as an affected, an individual is required to have a diagnosis that satisfies the 1982 American College of Rheumatology's criteria for the classification SLE as revised in 1997.
Item
The recruitment of subjects include Patients with lupus (affected) and non-affected family members enrolled through referrals from physicians and patients. To be enrolled as an affected, an individual is required to have a diagnosis that satisfies the 1982 American College of Rheumatology's criteria for the classification SLE as revised in 1997.
boolean
C0376425 (UMLS CUI [1,1])
C0409974 (UMLS CUI [1,2])
C0030705 (UMLS CUI [1,3])
C0086282 (UMLS CUI [1,4])
C2986417 (UMLS CUI [1,5])
C0583834 (UMLS CUI [1,6])
C1516879 (UMLS CUI [2,1])
C0522476 (UMLS CUI [2,2])
C4055473 (UMLS CUI [2,3])
**Juvenile Idiopathic Arthritis (JIA)**
Item
**Juvenile Idiopathic Arthritis (JIA)**
boolean
C1444845 (UMLS CUI [1,1])
The overriding criteria for selection of all patients is the diagnosis of JIA according to the ACR criteria.
Item
The overriding criteria for selection of all patients is the diagnosis of JIA according to the ACR criteria.
boolean
C0242801 (UMLS CUI [1,1])
C0011900 (UMLS CUI [1,2])
C3495559 (UMLS CUI [1,3])
C3273747 (UMLS CUI [1,4])
Inclusion criteria for New Onset disease: No prior disease-remitting treatment
Item
Inclusion criteria for New Onset disease: No prior disease-remitting treatment
boolean
C1512693 (UMLS CUI [1,1])
C0746890 (UMLS CUI [1,2])
C0012634 (UMLS CUI [1,3])
C4489231 (UMLS CUI [1,4])
Subject and/or parent or legal guardian must be willing to sign consent/assent forms
Item
Subject and/or parent or legal guardian must be willing to sign consent/assent forms
boolean
C0021430 (UMLS CUI [1,1])
C0030701 (UMLS CUI [1,2])
C0030551 (UMLS CUI [1,3])
C1274041 (UMLS CUI [1,4])
Disease onset for less than 10 months (JIA) (If duration exceeds 10 months and the patient is about to start MTX therapy, enroll and contact the coordinating center for an exemption.)
Item
Disease onset for less than 10 months (JIA) (If duration exceeds 10 months and the patient is about to start MTX therapy, enroll and contact the coordinating center for an exemption.)
boolean
C0277793 (UMLS CUI [1,1])
C3495559 (UMLS CUI [1,2])
C0449238 (UMLS CUI [2,1])
C5446435 (UMLS CUI [2,2])
C0439659 (UMLS CUI [2,3])
C0025677 (UMLS CUI [2,4])
C0013216 (UMLS CUI [2,5])
C1516879 (UMLS CUI [2,6])
C2825181 (UMLS CUI [2,7])
Patient has an established or probable diagnosis of pauciarticular, polyarticular or systemic onset JIA as determined by ACR criteria.
Item
Patient has an established or probable diagnosis of pauciarticular, polyarticular or systemic onset JIA as determined by ACR criteria.
boolean
C0332139 (UMLS CUI [1,1])
C0332148 (UMLS CUI [1,2])
C2931171 (UMLS CUI [1,3])
C0311221 (UMLS CUI [1,4])
C0087031 (UMLS CUI [1,5])
C3273747 (UMLS CUI [1,6])
Patient must have joints with active arthritis as defined by ACR or signs/symptoms of systemic JRA.
Item
Patient must have joints with active arthritis as defined by ACR or signs/symptoms of systemic JRA.
boolean
C4543862 (UMLS CUI [1,1])
C1709632 (UMLS CUI [1,2])
C0030705 (UMLS CUI [1,3])
C3273747 (UMLS CUI [1,4])
C0037088 (UMLS CUI [1,5])
C0087031 (UMLS CUI [1,6])
Elig.phs001011.v2.p1.27
Item
Exclusion criteria for New Onset disease:Prior treatment with a DMARD
boolean
C0680251 (UMLS CUI [1,1])
C0746890 (UMLS CUI [1,2])
C1514463 (UMLS CUI [1,3])
C0242708 (UMLS CUI [1,4])
Any uncontrolled, clinically significant pre-existing systemic disease, unrelated to the primary rheumatic disease, including hepatic, renal, neurological, endocrine, cardiac, gastrointestinal or hematologic diseases.
Item
Any uncontrolled, clinically significant pre-existing systemic disease, unrelated to the primary rheumatic disease, including hepatic, renal, neurological, endocrine, cardiac, gastrointestinal or hematologic diseases.
boolean
C0521987 (UMLS CUI [1,1])
C2985739 (UMLS CUI [1,2])
C0205318 (UMLS CUI [1,3])
C0442893 (UMLS CUI [1,4])
C0023895 (UMLS CUI [1,5])
C0022658 (UMLS CUI [1,6])
C0027765 (UMLS CUI [1,7])
C0014130 (UMLS CUI [1,8])
C0018799 (UMLS CUI [1,9])
C0017178 (UMLS CUI [1,10])
C0018939 (UMLS CUI [1,11])
The patient has a history or current substance abuse or psychiatric problem that, in the investigator's opinion, would interfere with the ability to give informed consent or comply with study requirements or physician instructions.
Item
The patient has a history or current substance abuse or psychiatric problem that, in the investigator's opinion, would interfere with the ability to give informed consent or comply with study requirements or physician instructions.
boolean
C1444635 (UMLS CUI [1,1])
C0740858 (UMLS CUI [1,2])
C0455498 (UMLS CUI [1,3])
C0021430 (UMLS CUI [1,4])
C1299582 (UMLS CUI [1,5])
C3858934 (UMLS CUI [1,6])
C1710221 (UMLS CUI [1,7])
C1442085 (UMLS CUI [1,8])
Inclusion Criteria for Existing disease: Subject and/or parent or legal guardian must be willing to sign consent/assent forms
Item
Inclusion Criteria for Existing disease: Subject and/or parent or legal guardian must be willing to sign consent/assent forms
boolean
C1512693 (UMLS CUI [1,1])
C0521987 (UMLS CUI [1,2])
C0021430 (UMLS CUI [1,3])
C0030551 (UMLS CUI [1,4])
C0023226 (UMLS CUI [1,5])
Exclusion Criteria for Existing disease:Any uncontrolled, clinically significant pre-existent and systemic disease, hepatic, renal, neurological, endocrine, cardiac, gastrointestinal or hematologic diseases. Past or current substance abuse or psychiatric history that would interfere with the ability to give informed consent or comply with study requirements or physician instructions.
Item
Exclusion Criteria for Existing disease:Any uncontrolled, clinically significant pre-existent and systemic disease, hepatic, renal, neurological, endocrine, cardiac, gastrointestinal or hematologic diseases. Past or current substance abuse or psychiatric history that would interfere with the ability to give informed consent or comply with study requirements or physician instructions.
boolean
C0680251 (UMLS CUI [1,1])
C0521987 (UMLS CUI [1,2])
C2985739 (UMLS CUI [1,3])
C0205318 (UMLS CUI [1,4])
C0442893 (UMLS CUI [1,5])
C0023895 (UMLS CUI [1,6])
C0022658 (UMLS CUI [1,7])
C0027765 (UMLS CUI [1,8])
C0014130 (UMLS CUI [1,9])
C0018799 (UMLS CUI [1,10])
C0017178 (UMLS CUI [1,11])
C0018939 (UMLS CUI [1,12])
C1444635 (UMLS CUI [2,1])
C0740858 (UMLS CUI [2,2])
C0455498 (UMLS CUI [2,3])
C0021430 (UMLS CUI [2,4])
C1299582 (UMLS CUI [2,5])
C3858934 (UMLS CUI [2,6])
C1710221 (UMLS CUI [2,7])
C1442085 (UMLS CUI [2,8])
**Better Outcomes for Children-Cytogenetics**
Item
**Better Outcomes for Children-Cytogenetics**
boolean
C2963499 (UMLS CUI [1,1])
C2986411 (UMLS CUI [1,2])
C0200896 (UMLS CUI [1,3])
A collection of pediatric samples with diagnoses of various developmental or genetic abnormalities (rare or common diseases) have been selected for high throughput SNP genotyping.
Item
A collection of pediatric samples with diagnoses of various developmental or genetic abnormalities (rare or common diseases) have been selected for high throughput SNP genotyping.
boolean
C0200345 (UMLS CUI [1,1])
C1521725 (UMLS CUI [1,2])
C0000768 (UMLS CUI [1,3])
C001827 (UMLS CUI [1,4])
C0205161 (UMLS CUI [1,5])
C0242801 (UMLS CUI [1,6])
C5392992 (UMLS CUI [1,7])
C0752046 (UMLS CUI [1,8])