ID

45374

Beschreibung

Principal Investigator: Hakon Hakonarson, MD, PhD, Center for Applied Genomics, Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA MeSH: Asthma,Attention Deficit Disorder with Hyperactivity,Dermatitis, Atopic,Gastroesophageal Reflux,Lipoproteins, LDL https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000490 The Center for Applied Genomics (CAG) at the Children's Hospital of Philadelphia (CHOP) is a high-throughput, highly automated genotyping and sequencing facility equipped with state-of-the-art genotyping and sequencing platforms. Children who are treated at the Children's Hospital Healthcare Network and their parents may be eligible to take part in a major initiative to collect more than 100,000 blood samples, covering a wide range of pediatric diseases. A large majority of participants consenting to prospective genomic analyses also consent to analysis of their de-identified electronic medical records (EMRs). EMRs are longitudinal, with a mean duration of 6.5 years. CAG has committed to releasing genotype and phenotype data for 4000 individuals diagnosed with *asthma*, *ADHD*, *atopic dermatitis*, *GERD* (1000 for each), and 1000 individuals on the upper and lower ranges of *Low-Density Lipoprotein* (LDL) levels to dbGaP. We will also release genotype/phenotype of 3000 controls. Relevant phenotype data includes primary diagnoses (ICD9 codes), secondary diagnoses (ICD9 codes), medical procedures/tests conducted in relation to the phenotype, and a listing of relevant medications. Further details of CAG's research programs and capacity are available at: http://www.caglab.org

Link

dbGap-study=phs000490

Stichworte

  1. 04.11.22 04.11.22 - Chiara Middel
Rechteinhaber

Hakon Hakonarson, MD, PhD, Center for Applied Genomics, Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA

Hochgeladen am

4. November 2022

DOI

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Lizenz

Creative Commons BY 4.0

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dbGaP phs000490 A Study of the Genetic Causes of Complex Pediatric Disorders

This dataset includes ICD9 codes of participants diagnosed with Gastroesophageal Reflux Disease (GERD), procedures performed, medication prescribed, and basic demographic data.

pht002967
Beschreibung

pht002967

Randomly-generated 6-digit ID code preceded by CHOP ID code (95)
Beschreibung

SUBJID

Datentyp

text

Alias
UMLS CUI [1,1]
C2348585
ID of eMERGE Consortium Site
Beschreibung

ORIGIN_ID

Datentyp

integer

Alias
UMLS CUI [1,1]
C2348585
Year of birth
Beschreibung

BIRTHYEAR

Datentyp

integer

Maßeinheiten
  • Year
Alias
UMLS CUI [1,1]
C2826771
Year
Gender of participant as defined by genotype
Beschreibung

Sex_Genotype

Datentyp

text

Alias
UMLS CUI [1,1]
C0079399
UMLS CUI [1,2]
C0017431
Gender of participant as identified by medical records
Beschreibung

Sex_Med

Datentyp

text

Alias
UMLS CUI [1,1]
C0079399
UMLS CUI [1,2]
C0025102
Gender of participant as identified by survey of patient/patient's parent
Beschreibung

Sex_Survey

Datentyp

text

Alias
UMLS CUI [1,1]
C0079399
UMLS CUI [1,2]
C4042892
Ethnicity of participant as identified by medical records
Beschreibung

Race_Med

Datentyp

text

Alias
UMLS CUI [1,1]
C0015031
UMLS CUI [1,2]
C0025102
Ethnicity of participant as identified by patient/patient's parent
Beschreibung

Race_Survey

Datentyp

text

Alias
UMLS CUI [1,1]
C0015031
UMLS CUI [1,2]
C2700446
Indicates whether participant is a case or control
Beschreibung

Affection_Status

Datentyp

text

Alias
UMLS CUI [1,1]
C3274646
Array on which participants were genotyped
Beschreibung

Chip_Type

Datentyp

string

Alias
UMLS CUI [1,1]
C1510941
UMLS CUI [1,2]
C1285573
Endocrine and metabolic drugs that have been prescribed to the patient
Beschreibung

Endocrine_and_Metabolic_Drugs

Datentyp

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C0356364
UMLS CUI [1,3]
C0311400
UMLS CUI [1,4]
C0013227
Anti-infective agents that have been prescribed to the patient
Beschreibung

Anti_Infective_Agents

Datentyp

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C0003204
Respiratory agents that have been prescribed to the patient
Beschreibung

Respiratory_Agents

Datentyp

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C0282686
Analgesics and anesthetics that have been prescribed to the patient
Beschreibung

Analgesics_and_Anesthetics

Datentyp

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C0002771
UMLS CUI [1,3]
C0002932
Neuromuscular drugs that have been prescribed to the patient
Beschreibung

Neuromuscular_Drugs

Datentyp

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C0027865
Nutritional products that have been prescribed to the patient
Beschreibung

Nutritional_Products

Datentyp

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C4036031
Topical products that have been prescribed to the patient
Beschreibung

Topical_Products

Datentyp

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C0360289
Miscellaneous products that have been prescribed to the patient
Beschreibung

Miscellaneous_Products

Datentyp

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C0301555
Gastrointestinal agents that have been prescribed to the patient
Beschreibung

Gastrointestinal_Agents

Datentyp

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C0017173
Central nervous system drugs that have been prescribed to the patient
Beschreibung

Central_Nervous_System_Drugs

Datentyp

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C0007680
Hematological agents that have been prescribed to the patient
Beschreibung

Hematological_Agents

Datentyp

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C0018938
Cardiovascular agents that have been prescribed to the patient
Beschreibung

Cardiovascular_Agents

Datentyp

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C0007220
Genitourinary products that have been prescribed to the patient
Beschreibung

Genitourinary_Products

Datentyp

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C1268853
Antineoplastic agents that have been prescribed to the patient
Beschreibung

Antineoplastic_Agents

Datentyp

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C0003392
Other biological agents/drugs prescribed to the patient
Beschreibung

Biological

Datentyp

string

Alias
UMLS CUI [1,1]
C2239117
UMLS CUI [1,2]
C0205394
UMLS CUI [1,3]
C0013227
UMLS CUI [1,4]
C3166216
Primary diagnosis as defined by ICD9 code(s)
Beschreibung

Primary_Diagnoses

Datentyp

text

Alias
UMLS CUI [1,1]
C0332137
UMLS CUI [1,2]
C2598420
Secondary diagnoses as defined by ICD9 code(s)
Beschreibung

Secondary_Diagnoses

Datentyp

text

Alias
UMLS CUI [1,1]
C4489532
UMLS CUI [1,2]
C2598420
Codes for procedures/tests performed on GERD patients
Beschreibung

Gerd_Procedure_Codes

Datentyp

text

Alias
UMLS CUI [1,1]
C1550373
UMLS CUI [1,2]
C0017168

Ähnliche Modelle

This dataset includes ICD9 codes of participants diagnosed with Gastroesophageal Reflux Disease (GERD), procedures performed, medication prescribed, and basic demographic data.

Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
pht002967
SUBJID
Item
Randomly-generated 6-digit ID code preceded by CHOP ID code (95)
text
C2348585 (UMLS CUI [1,1])
Item
ID of eMERGE Consortium Site
integer
C2348585 (UMLS CUI [1,1])
Code List
ID of eMERGE Consortium Site
CL Item
CHOP (95)
BIRTHYEAR
Item
Year of birth
integer
C2826771 (UMLS CUI [1,1])
Item
Gender of participant as defined by genotype
text
C0079399 (UMLS CUI [1,1])
C0017431 (UMLS CUI [1,2])
Code List
Gender of participant as defined by genotype
CL Item
Female (F)
CL Item
Male (M)
Item
Gender of participant as identified by medical records
text
C0079399 (UMLS CUI [1,1])
C0025102 (UMLS CUI [1,2])
Code List
Gender of participant as identified by medical records
CL Item
Female (F)
CL Item
Male (M)
Item
Gender of participant as identified by survey of patient/patient's parent
text
C0079399 (UMLS CUI [1,1])
C4042892 (UMLS CUI [1,2])
Code List
Gender of participant as identified by survey of patient/patient's parent
CL Item
Female (F)
CL Item
Female; Male (F | M)
CL Item
Male (M)
Item
Ethnicity of participant as identified by medical records
text
C0015031 (UMLS CUI [1,1])
C0025102 (UMLS CUI [1,2])
Code List
Ethnicity of participant as identified by medical records
CL Item
Black or African American (AA)
CL Item
American Indian or Alaska Native (AI)
CL Item
Asian (AS)
CL Item
European American (EA)
CL Item
Hispanic/Latino (HI)
CL Item
Not Available/Missing (NA)
CL Item
Other (OT)
CL Item
Native Hawaiian/Pacific Islander (PI)
Item
Ethnicity of participant as identified by patient/patient's parent
text
C0015031 (UMLS CUI [1,1])
C2700446 (UMLS CUI [1,2])
Code List
Ethnicity of participant as identified by patient/patient's parent
CL Item
Black or African American (AA)
CL Item
American Indian or Alaska Native (AI)
CL Item
Asian (AS)
CL Item
European American (EA)
CL Item
Hispanic/Latino (HI)
CL Item
Not Available/Missing (NA)
CL Item
Other (OT)
CL Item
Native Hawaiian/Pacific Islander (PI)
Item
Indicates whether participant is a case or control
text
C3274646 (UMLS CUI [1,1])
Code List
Indicates whether participant is a case or control
CL Item
Control (1)
CL Item
Case (2)
Item
Array on which participants were genotyped
string
C1510941 (UMLS CUI [1,1])
C1285573 (UMLS CUI [1,2])
Code List
Array on which participants were genotyped
CL Item
Illumina Human610-Quadv1 (610 QV1)
Endocrine_and_Metabolic_Drugs
Item
Endocrine and metabolic drugs that have been prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C0356364 (UMLS CUI [1,2])
C0311400 (UMLS CUI [1,3])
C0013227 (UMLS CUI [1,4])
Anti_Infective_Agents
Item
Anti-infective agents that have been prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C0003204 (UMLS CUI [1,2])
Respiratory_Agents
Item
Respiratory agents that have been prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C0282686 (UMLS CUI [1,2])
Analgesics_and_Anesthetics
Item
Analgesics and anesthetics that have been prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C0002771 (UMLS CUI [1,2])
C0002932 (UMLS CUI [1,3])
Neuromuscular_Drugs
Item
Neuromuscular drugs that have been prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C0027865 (UMLS CUI [1,2])
Nutritional_Products
Item
Nutritional products that have been prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C4036031 (UMLS CUI [1,2])
Topical_Products
Item
Topical products that have been prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C0360289 (UMLS CUI [1,2])
Miscellaneous_Products
Item
Miscellaneous products that have been prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C0301555 (UMLS CUI [1,2])
Gastrointestinal_Agents
Item
Gastrointestinal agents that have been prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C0017173 (UMLS CUI [1,2])
Central_Nervous_System_Drugs
Item
Central nervous system drugs that have been prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C0007680 (UMLS CUI [1,2])
Hematological_Agents
Item
Hematological agents that have been prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C0018938 (UMLS CUI [1,2])
Cardiovascular_Agents
Item
Cardiovascular agents that have been prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C0007220 (UMLS CUI [1,2])
Genitourinary_Products
Item
Genitourinary products that have been prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C1268853 (UMLS CUI [1,2])
Antineoplastic_Agents
Item
Antineoplastic agents that have been prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C0003392 (UMLS CUI [1,2])
Biological
Item
Other biological agents/drugs prescribed to the patient
string
C2239117 (UMLS CUI [1,1])
C0205394 (UMLS CUI [1,2])
C0013227 (UMLS CUI [1,3])
C3166216 (UMLS CUI [1,4])
Item
Primary diagnosis as defined by ICD9 code(s)
text
C0332137 (UMLS CUI [1,1])
C2598420 (UMLS CUI [1,2])
Code List
Primary diagnosis as defined by ICD9 code(s)
CL Item
Reflux esophagitis (530.11)
CL Item
Esophageal reflux (530.81)
CL Item
Reflux esophagitis; Esophageal reflux (530.11;530.81)
CL Item
Reflux esophagitis; Esophageal reflux; Esophageal reflux (530.11;530.81;530.81A)
CL Item
Reflux esophagitis; Esophageal reflux; Esophageal reflux (530.11;530.81;530.81BC)
CL Item
Reflux esophagitis; Esophageal reflux; Esophageal reflux (530.11;530.81;530.81K)
CL Item
Reflux esophagitis; Esophageal reflux; Esophageal reflux (530.11;530.81;530.81L)
CL Item
Reflux esophagitis; Esophageal reflux; Esophageal reflux (530.11;530.81;530.81T)
CL Item
Reflux esophagitis; Esophageal reflux; Esophageal reflux (530.11;530.81;530.81Y)
CL Item
Esophageal reflux; Esophageal reflux (530.81;530.81A)
CL Item
Esophageal reflux; Esophageal reflux (530.81;530.81AA)
CL Item
Esophageal reflux; Esophageal reflux (530.81;530.81AJ)
CL Item
Esophageal reflux; Esophageal reflux (530.81;530.81K)
CL Item
Esophageal reflux; Esophageal reflux (530.81;530.81T)
CL Item
Esophageal reflux; Esophageal reflux (530.81;530.81Y)
CL Item
Esophageal reflux (530.81A)
CL Item
Esophageal reflux (530.81AA)
CL Item
Esophageal reflux (530.81AJ)
CL Item
Esophageal reflux (530.81BC)
CL Item
Esophageal reflux (530.81K)
CL Item
Esophageal reflux (530.81L)
CL Item
Esophageal reflux (530.81T)
CL Item
Esophageal reflux (530.81Y)
Secondary_Diagnoses
Item
Secondary diagnoses as defined by ICD9 code(s)
text
C4489532 (UMLS CUI [1,1])
C2598420 (UMLS CUI [1,2])
Item
Codes for procedures/tests performed on GERD patients
text
C1550373 (UMLS CUI [1,1])
C0017168 (UMLS CUI [1,2])
Code List
Codes for procedures/tests performed on GERD patients
CL Item
ESOPHAGRAM (74220)
CL Item
FL ESOPHAGRAM/ANATOMY (74246)
CL Item
NM MILK SCAN (GASTRIC EMPTYING and REFLUX) (78262)
CL Item
NM GASTRIC EMPTYING ONLY (78264)
CL Item
POC GASTRIC OCCULT BLOOD (82271)
CL Item
POC GASTRIC OCCULT BLOOD (82771)
CL Item
POC GASTRIC PH (83986)
CL Item
ESOPHAGEAL MOTILITY STUDY (91010)
CL Item
ESOPH W/NAS CATH (91034)
CL Item
ESOPH PH W/TELE PROBE (91035)
CL Item
GASTRO IMPEDANCE TEST (91038)
CL Item
ESOPHAGOGASTRODUODENOSCOPY (91040)
CL Item
ESOPHAGRAM; FL ESOPHAGRAM/ANATOMY; NM MILK SCAN (GASTRIC EMPTYING and REFLUX); NM GASTRIC EMPTYING ONLY; GASTRO IMPEDANCE TEST; ESOPHAGOGASTRODUODENOSCOPY (74220,74246,78262,78264,91038,91040)
CL Item
ESOPHAGRAM; FL ESOPHAGRAM/ANATOMY; NM MILK SCAN (GASTRIC EMPTYING and REFLUX); NM GASTRIC EMPTYING ONLY; GASTRO IMPEDANCE TEST; ESOPHAGOGASTRODUODENOSCOPY (74220; 74246; 78262; 78264; 91038; 91040)
CL Item
FL ESOPHAGRAM/ANATOMY; NM MILK SCAN (GASTRIC EMPTYING and REFLUX); NM GASTRIC EMPTYING ONLY (74246,78262,78264)
CL Item
FL ESOPHAGRAM/ANATOMY; NM MILK SCAN (GASTRIC EMPTYING and REFLUX); NM GASTRIC EMPTYING ONLY; POC GASTRIC PH (74246,78262,78264,83986)
CL Item
FL ESOPHAGRAM/ANATOMY; NM MILK SCAN (GASTRIC EMPTYING and REFLUX); NM GASTRIC EMPTYING ONLY; ESOPHAGOGASTRODUODENOSCOPY (74246,78262,78264,91040)
CL Item
FL ESOPHAGRAM/ANATOMY; NM GASTRIC EMPTYING ONLY (74246,78264)
CL Item
FL ESOPHAGRAM/ANATOMY; ESOPHAGOGASTRODUODENOSCOPY (74246,91040)
CL Item
FL ESOPHAGRAM/ANATOMY; NM MILK SCAN (GASTRIC EMPTYING and REFLUX); NM GASTRIC EMPTYING ONLY (74246; 78262; 78264)
CL Item
FL ESOPHAGRAM/ANATOMY; NM MILK SCAN (GASTRIC EMPTYING and REFLUX); NM GASTRIC EMPTYING ONLY; POC GASTRIC PH (74246; 78262; 78264; 83986)
CL Item
FL ESOPHAGRAM/ANATOMY; NM MILK SCAN (GASTRIC EMPTYING and REFLUX); NM GASTRIC EMPTYING ONLY; ESOPHAGOGASTRODUODENOSCOPY (74246; 78262; 78264; 91040)
CL Item
FL ESOPHAGRAM/ANATOMY; NM GASTRIC EMPTYING ONLY (74246; 78264)
CL Item
FL ESOPHAGRAM/ANATOMY; ESOPHAGOGASTRODUODENOSCOPY (74246; 91040)
CL Item
NM MILK SCAN (GASTRIC EMPTYING and REFLUX); NM GASTRIC EMPTYING ONLY (78262,78264)
CL Item
NM MILK SCAN (GASTRIC EMPTYING and REFLUX); NM GASTRIC EMPTYING ONLY; ESOPHAGEAL MOTILITY STUDY; GASTRO IMPEDANCE TEST (78262,78264,91010,91038)
CL Item
NM MILK SCAN (GASTRIC EMPTYING and REFLUX); NM GASTRIC EMPTYING ONLY; ESOPH W/NAS CATH; ESOPHAGOGASTRODUODENOSCOPY (78262,78264,91034,91040)
CL Item
NM MILK SCAN (GASTRIC EMPTYING and REFLUX); NM GASTRIC EMPTYING ONLY; ESOPH PH W/TELE PROBE; GASTRO IMPEDANCE TEST; ESOPHAGOGASTRODUODENOSCOPY (78262,78264,91035,91038,91040)
CL Item
NM MILK SCAN (GASTRIC EMPTYING and REFLUX); NM GASTRIC EMPTYING ONLY; GASTRO IMPEDANCE TEST; ESOPHAGOGASTRODUODENOSCOPY (78262,78264,91038,91040)
CL Item
NM MILK SCAN (GASTRIC EMPTYING and REFLUX); NM GASTRIC EMPTYING ONLY; ESOPHAGOGASTRODUODENOSCOPY (78262,78264,91040)
CL Item
NM MILK SCAN (GASTRIC EMPTYING and REFLUX); POC GASTRIC PH (78262,83986)
CL Item
NM MILK SCAN (GASTRIC EMPTYING and REFLUX); ESOPHAGOGASTRODUODENOSCOPY (78262,91040)
CL Item
NM MILK SCAN (GASTRIC EMPTYING and REFLUX); NM GASTRIC EMPTYING ONLY (78262; 78264)
CL Item
NM MILK SCAN (GASTRIC EMPTYING and REFLUX); NM GASTRIC EMPTYING ONLY; ESOPHAGEAL MOTILITY STUDY; GASTRO IMPEDANCE TEST (78262; 78264; 91010; 91038)
CL Item
NM MILK SCAN (GASTRIC EMPTYING and REFLUX); NM GASTRIC EMPTYING ONLY; ESOPH W/NAS CATH; ESOPHAGOGASTRODUODENOSCOPY (78262; 78264; 91034; 91040)
CL Item
NM MILK SCAN (GASTRIC EMPTYING and REFLUX); NM GASTRIC EMPTYING ONLY; ESOPH PH W/TELE PROBE; GASTRO IMPEDANCE TEST; ESOPHAGOGASTRODUODENOSCOPY (78262; 78264; 91035; 91038; 91040)
CL Item
NM MILK SCAN (GASTRIC EMPTYING and REFLUX); NM GASTRIC EMPTYING ONLY; GASTRO IMPEDANCE TEST; ESOPHAGOGASTRODUODENOSCOPY (78262; 78264; 91038; 91040)
CL Item
NM MILK SCAN (GASTRIC EMPTYING and REFLUX); NM GASTRIC EMPTYING ONLY; ESOPHAGOGASTRODUODENOSCOPY (78262; 78264; 91040)
CL Item
NM MILK SCAN (GASTRIC EMPTYING and REFLUX); POC GASTRIC PH (78262; 83986)
CL Item
NM MILK SCAN (GASTRIC EMPTYING and REFLUX); ESOPHAGOGASTRODUODENOSCOPY (78262; 91040)
CL Item
NM GASTRIC EMPTYING ONLY; POC GASTRIC OCCULT BLOOD; POC GASTRIC PH; ESOPHAGOGASTRODUODENOSCOPY (78264,82271,83986,91040)
CL Item
NM GASTRIC EMPTYING ONLY; ESOPHAGOGASTRODUODENOSCOPY (78264,91040)
CL Item
NM GASTRIC EMPTYING ONLY; POC GASTRIC OCCULT BLOOD; POC GASTRIC PH; ESOPHAGOGASTRODUODENOSCOPY (78264; 82271; 83986; 91040)
CL Item
NM GASTRIC EMPTYING ONLY; ESOPHAGOGASTRODUODENOSCOPY (78264; 91040)
CL Item
POC GASTRIC OCCULT BLOOD (82771; 91041)
CL Item
ESOPH W/NAS CATH; ESOPHAGOGASTRODUODENOSCOPY (91034,91040)
CL Item
ESOPH W/NAS CATH; ESOPHAGOGASTRODUODENOSCOPY (91034; 91040)
CL Item
GASTRO IMPEDANCE TEST; ESOPHAGOGASTRODUODENOSCOPY (91038,91040)
CL Item
GASTRO IMPEDANCE TEST; ESOPHAGOGASTRODUODENOSCOPY (91038; 91040)

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