ID

45495

Descrição

Principal Investigator: Isaac S. Kohane, MD, PhD, Boston Children's Hospital, Boston, MA, USA MeSH: Autistic Disorder,Heart Defects, Congenital,Asthma,Attention Deficit Disorders,Diabetes Mellitus, Type 1,Diabetes Mellitus, Type 2,Epilepsy,Gastrointestinal Diseases,Hypersensitivity,Autoimmune Diseases,Hematologic Diseases,Neoplasms,Arrhythmias, Cardiac,Chromosome Aberrations,Congenital Abnormalities,Dermatology,Developmental Disabilities,Endocrine System,Otolaryngology,Syndrome,Urogenital System,Hearing Loss,Immune System Diseases,Musculoskeletal Abnormalities,Nervous System Diseases,Neuromuscular Diseases,Metabolic Diseases,Nutrition Disorders,Vision Disorders,Mouth Diseases,Mental Disorders,Kidney Diseases,Respiration Disorders,Thyroid Diseases,Vascular Diseases https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000495 The Gene Partnership (TGP) is a prospective longitudinal registry at Boston Children's Hospital (BCH) to study the genetic and environmental contributions to childhood health and disease, collect genetic information on a large number of children who have been phenotyped, and implement the Informed Cohort and the Informed Cohort Oversight Board (ICOB). The term "*The Gene Partnership*" reflects a partnership between researchers and participants. Children seen at BCH are offered enrollment, as are their parents and siblings. DNA is collected on all enrollees. BCH has a comprehensive EMR system, and virtually all inpatient and outpatient data are captured electronically. Clinical data in the BCH EMR is loaded in the i2b2 data warehouse which is available to investigators. Cases, phenotypes, and covariates are ascertained using the i2b2 database. Participants at BCH in TGP have consented to receive any research result and/or incidental finding that arises from studies using TGP that is approved by the Informed Cohort Oversight Board (ICOB) and is in accordance with the participants' preferences; results are returned through the Personally Controlled Health Record (PCHR). BCH and Cincinnati Children's Hospital Medical Center (CCHMC) have partnered as the *P*ediatric *A*lliance for *G*enomic and *E*lectronic Medical Record (EMR) *R*esearch (*PAGER*) site for the eMERGE Phase II network for pediatric institutions, and the cohort for eMERGE at BCH is TGP.

Link

dbGap study = phs000495

Palavras-chave

Versões (2)
  1. 16/11/2022 16/11/2022 - Kristina Keller
  2. 13/12/2022 13/12/2022 - Kristina Keller
Titular dos direitos

Isaac S. Kohane, MD, PhD, Boston Children's Hospital, Boston, MA, USA

Transferido a

13 de dezembro de 2022

DOI

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Licença

Creative Commons BY 4.0
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dbGaP phs000495 The Gene Partnership (TGP) - eMERGE Data

Inglês

The dataset contains basic demographic data and ICD9 codes of disease diagnoses of participants.

5 Formulários  
pht002866
Descrição

pht002866

De-identified subject id
Descrição

SUBJID

Tipo de dados

string

Alias
UMLS CUI [1,1]
C2348585
UMLS CUI [1,2]
C4684638
Year the participant was born
Descrição

YEAR_OF_BIRTH

Tipo de dados

text

Alias
UMLS CUI [1,1]
C2826771
UMLS CUI [1,2]
C0679646
Gender of Subject - as reported by participant
Descrição

GENDER

Tipo de dados

text

Alias
UMLS CUI [1,1]
C0079399
UMLS CUI [1,2]
C0681850
UMLS CUI [1,3]
C2700446
Ethnicity of participant - as reported by participant
Descrição

ETHNICITY

Tipo de dados

text

Alias
UMLS CUI [1,1]
C0015031
UMLS CUI [1,2]
C0681906
Race of participant - as reported by participant
Descrição

RACE

Tipo de dados

text

Alias
UMLS CUI [1,1]
C0034510
UMLS CUI [1,2]
C0681906
ICD9 code representing phenotype of participant: ADD and ADHD
Descrição

ADD_&_ADHD

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C4698661
ICD9 code representing phenotype of participant: Allergies
Descrição

ALLERGIES

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0020517
ICD9 code representing phenotype of participant: Asthma
Descrição

ASTHMA

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0004096
ICD9 code representing phenotype of participant: Autism
Descrição

AUTISM

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0004352
ICD9 code representing phenotype of participant: Autoimmune Dx
Descrição

AUTOIMMUNE_DX

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0004364
ICD9 code representing phenotype of participant: Blood Dx
Descrição

BLOOD_DX

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0018939
ICD9 code representing phenotype of participant: Cancer and Tumor Dx
Descrição

CANCER_&_TUMOR_DX

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0006826
ICD9 code representing phenotype of participant: Cardio Structure and Conduction Dx
Descrição

CARDIO_STRUCTURE_&_CONDUCTION_DX

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0018799
ICD9 code representing phenotype of participant: Chromosomal Anomalies
Descrição

CHROMOSOMAL_ANOMALIES

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0008625
ICD9 code representing phenotype of participant: Conditions Affecting Fetus and Newborn
Descrição

CONDITIONS_AFFECTING_FETUS_&_NEWBORN

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C1519760
UMLS CUI [1,3]
C0021289
ICD9 code representing phenotype of participant: Congenital Anomaly - Heart
Descrição

CONGENITAL_ANOMALY_HEART

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0152021
ICD9 code representing phenotype of participant: Congenital Anomaly - Other
Descrição

CONGENITAL_ANOMALY_OTHER

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0000768
UMLS CUI [1,3]
C0205394
ICD9 code representing phenotype of participant: Dermatological Dx
Descrição

DERMATOLOGICAL_DX

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0037274
ICD9 code representing phenotype of participant: Developmental and Learning Dx
Descrição

DEVELOPMENTAL_&_LEARNING_DX

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0424605
UMLS CUI [1,3]
C0851265
ICD9 code representing phenotype of participant: Diabetes Type 1
Descrição

DIABETES_TYPE_1

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0011854
ICD9 code representing phenotype of participant: Diabetes Type 2
Descrição

DIABETES_TYPE_2

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0011860
ICD9 code representing phenotype of participant: Endocrine Dx
Descrição

ENDOCRINE_DX

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0014130
ICD9 code representing phenotype of participant: ENT (Ear - Nose - Throat) Dx
Descrição

ENT_DX

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0395797
ICD9 code representing phenotype of participant: Epilepsy and Seizure Dx
Descrição

EPILEPSY_&_SEIZURE_DX

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0014544
UMLS CUI [1,3]
C0036572
ICD9 code representing phenotype of participant: Gastrointestinal - Lower Dx
Descrição

GASTROINTESTINAL_LOWER_DX

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0266805
ICD9 code representing phenotype of participant: Gastrointestinal - Upper Dx
Descrição

GASTROINTESTINAL_UPPER_DX

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C1290613
ICD9 code representing phenotype of participant: Genetic Syndromes
Descrição

GENETIC _SYNDROMES

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0019247
ICD9 code representing phenotype of participant: Genitourinary Dx
Descrição

GENITOURINARY_DX

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0080276
ICD9 code representing phenotype of participant: Hearing Impairment Dx
Descrição

HEARING_IMPAIRMENT_DX

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C1384666
ICD9 code representing phenotype of participant: Immune System Dx
Descrição

IMMUNE_SYSTEM_DX

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0021053
ICD9 code representing phenotype of participant: Musculoskeletal Dx
Descrição

MUSCULOSKELETAL_DX

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0026857
ICD9 code representing phenotype of participant: Neurological Dx
Descrição

NEUROLOGICAL_DX

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0027765
ICD9 code representing phenotype of participant: Neuromuscular Dx
Descrição

NEUROMUSCULAR_DX

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0027868
ICD9 code representing phenotype of participant: Nutrition and Metabolism Dx
Descrição

NUTRITION_&_METABOLISM_DX

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0851358
ICD9 code representing phenotype of participant: Ocular Dx
Descrição

OCULAR_DX

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0015397
ICD9 code representing phenotype of participant: Oral Dx
Descrição

ORAL_DX

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0026636
ICD9 code representing phenotype of participant: Psychological Dx
Descrição

PSYCHOLOGICAL_DX

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0004936
ICD9 code representing phenotype of participant: Renal Dx
Descrição

RENAL_DX

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0022658
ICD9 code representing phenotype of participant: Respiratory Dx
Descrição

RESPIRATORY_DX

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0035204
ICD9 code representing phenotype of participant: Thyroid Dx
Descrição

THYROID_DX

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0040128
ICD9 code representing phenotype of participant: Vascular Dx
Descrição

VASCULAR_DX

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C0042373
ICD9 code representing phenotype of participant: Other and Infectious Dx
Descrição

OTHER_&_INFECTIOUS_DX

Tipo de dados

text

Alias
UMLS CUI [1,1]
C1137111
UMLS CUI [1,2]
C3714514
UMLS CUI [1,3]
C0205394
UMLS CUI [1,4]
C0012634
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Similar models

The dataset contains basic demographic data and ICD9 codes of disease diagnoses of participants.

5 Formulários
Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de dados
Alias
Item Group
pht002866
SUBJID
Item
De-identified subject id
string
C2348585 (UMLS CUI [1,1])
C4684638 (UMLS CUI [1,2])
Item
Year the participant was born
text
C2826771 (UMLS CUI [1,1])
C0679646 (UMLS CUI [1,2])
YEAR_OF_BIRTH
Code List
Year the participant was born
CL Item
Missing (.)
C1705492 (UMLS CUI [1,1])
CL Item
Unknown (99)
C0439673 (UMLS CUI [1,1])
Item
Gender of Subject - as reported by participant
text
C0079399 (UMLS CUI [1,1])
C0681850 (UMLS CUI [1,2])
C2700446 (UMLS CUI [1,3])
GENDER
Code List
Gender of Subject - as reported by participant
CL Item
Male (M)
C0086582 (UMLS CUI [1,1])
CL Item
Female (F)
C0086287 (UMLS CUI [1,1])
CL Item
Missing (.)
C1705492 (UMLS CUI [1,1])
CL Item
Unknown (99)
C0439673 (UMLS CUI [1,1])
Item
Ethnicity of participant - as reported by participant
text
C0015031 (UMLS CUI [1,1])
C0681906 (UMLS CUI [1,2])
ETHNICITY
Code List
Ethnicity of participant - as reported by participant
CL Item
Non-Hispanic (0)
C3846648 (UMLS CUI [1,1])
CL Item
Hispanic (1)
C0086409 (UMLS CUI [1,1])
CL Item
Missing (.)
C1705492 (UMLS CUI [1,1])
CL Item
Unknown (99)
C0439673 (UMLS CUI [1,1])
Item
Race of participant - as reported by participant
text
C0034510 (UMLS CUI [1,1])
C0681906 (UMLS CUI [1,2])
RACE
Code List
Race of participant - as reported by participant
CL Item
Black (0)
C0005680 (UMLS CUI [1,1])
CL Item
Native American or Alaskan Native (1)
C0683984 (UMLS CUI [1,1])
CL Item
Asian (2)
C0078988 (UMLS CUI [1,1])
CL Item
White (3)
C0007457 (UMLS CUI [1,1])
CL Item
Native Hawaiian or Pacific Islander (4)
C1513907 (UMLS CUI [1,1])
CL Item
Other (5)
C0205394 (UMLS CUI [1,1])
C0034510 (UMLS CUI [1,2])
CL Item
Missing (.)
C1705492 (UMLS CUI [1,1])
CL Item
Unknown (99)
C0439673 (UMLS CUI [1,1])
Item
ICD9 code representing phenotype of participant: ADD and ADHD
text
C1137111 (UMLS CUI [1,1])
C4698661 (UMLS CUI [1,2])
ADD_&_ADHD
Code List
ICD9 code representing phenotype of participant: ADD and ADHD
CL Item
ADD & ADHD (314.9)
CL Item
ADD & ADHD (314.01)
CL Item
ADD & ADHD (314.00)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Allergies
text
C1137111 (UMLS CUI [1,1])
C0020517 (UMLS CUI [1,2])
ALLERGIES
Code List
ICD9 code representing phenotype of participant: Allergies
CL Item
ALLERGIES (477.0)
CL Item
ALLERGIES (477.2)
CL Item
ALLERGIES (477.8)
CL Item
ALLERGIES (477.9)
CL Item
ALLERGIES (558.3)
CL Item
ALLERGIES (693.1)
CL Item
ALLERGIES (708.0)
CL Item
ALLERGIES (995.3)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Asthma
text
C1137111 (UMLS CUI [1,1])
C0004096 (UMLS CUI [1,2])
ASTHMA
Code List
ICD9 code representing phenotype of participant: Asthma
CL Item
ASTHMA (493.00)
CL Item
ASTHMA (493.90)
CL Item
ASTHMA (493.91)
CL Item
ASTHMA (493.92)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Autism
text
C1137111 (UMLS CUI [1,1])
C0004352 (UMLS CUI [1,2])
AUTISM
Code List
ICD9 code representing phenotype of participant: Autism
CL Item
AUTISM (299.00)
CL Item
AUTISM (299.01)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Autoimmune Dx
text
C1137111 (UMLS CUI [1,1])
C0004364 (UMLS CUI [1,2])
AUTOIMMUNE_DX
Code List
ICD9 code representing phenotype of participant: Autoimmune Dx
CL Item
AUTOIMMUNE DX (710.0)
CL Item
AUTOIMMUNE DX (714.30)
CL Item
AUTOIMMUNE DX (716.60)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Blood Dx
text
C1137111 (UMLS CUI [1,1])
C0018939 (UMLS CUI [1,2])
BLOOD_DX
Code List
ICD9 code representing phenotype of participant: Blood Dx
CL Item
BLOOD DX (280.0)
CL Item
BLOOD DX (280.9)
CL Item
BLOOD DX (284.9)
CL Item
BLOOD DX (285.8)
CL Item
BLOOD DX (285.9)
CL Item
BLOOD DX (287.0)
CL Item
BLOOD DX (287.32)
CL Item
BLOOD DX (288.00)
CL Item
BLOOD DX (288.04)
CL Item
BLOOD DX (288.09)
CL Item
BLOOD DX (288.4)
CL Item
BLOOD DX (288.51)
CL Item
BLOOD DX (288.60)
CL Item
BLOOD DX (289.2)
CL Item
BLOOD DX (282.4)
CL Item
BLOOD DX (282.60)
CL Item
BLOOD DX (286.0)
CL Item
BLOOD DX (286.3)
CL Item
BLOOD DX (286.4)
CL Item
BLOOD DX (287.9)
CL Item
BLOOD DX (289.3)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Cancer and Tumor Dx
text
C1137111 (UMLS CUI [1,1])
C0006826 (UMLS CUI [1,2])
CANCER_&_TUMOR_DX
Code List
ICD9 code representing phenotype of participant: Cancer and Tumor Dx
CL Item
CANCER & TUMOR DX (191.7)
CL Item
CANCER & TUMOR DX (191.9)
CL Item
CANCER & TUMOR DX (192.0)
CL Item
CANCER & TUMOR DX (201.90)
CL Item
CANCER & TUMOR DX (202.10)
CL Item
CANCER & TUMOR DX (213.7)
CL Item
CANCER & TUMOR DX (216.4)
CL Item
CANCER & TUMOR DX (216.5)
CL Item
CANCER & TUMOR DX (216.7)
CL Item
CANCER & TUMOR DX (216.9)
CL Item
CANCER & TUMOR DX (222.9)
CL Item
CANCER & TUMOR DX (228.01)
CL Item
CANCER & TUMOR DX (228.1)
CL Item
CANCER & TUMOR DX (237.2)
CL Item
CANCER & TUMOR DX (239.6)
CL Item
CANCER & TUMOR DX (757.32)
CL Item
CANCER & TUMOR DX (258.02)
CL Item
CANCER & TUMOR DX (216.3)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Cardio Structure and Conduction Dx
text
C1137111 (UMLS CUI [1,1])
C0018799 (UMLS CUI [1,2])
CARDIO_STRUCTURE_&_CONDUCTION_DX
Code List
ICD9 code representing phenotype of participant: Cardio Structure and Conduction Dx
CL Item
CARDIO STRUCTURE & CONDUCTION DX (424.1)
CL Item
CARDIO STRUCTURE & CONDUCTION DX (424.2)
CL Item
CARDIO STRUCTURE & CONDUCTION DX (425.3)
CL Item
CARDIO STRUCTURE & CONDUCTION DX (425.4)
CL Item
CARDIO STRUCTURE & CONDUCTION DX (425.9)
CL Item
CARDIO STRUCTURE & CONDUCTION DX (426.89)
CL Item
CARDIO STRUCTURE & CONDUCTION DX (427.0)
CL Item
CARDIO STRUCTURE & CONDUCTION DX (427.69)
CL Item
CARDIO STRUCTURE & CONDUCTION DX (427.89)
CL Item
CARDIO STRUCTURE & CONDUCTION DX (427.9)
CL Item
CARDIO STRUCTURE & CONDUCTION DX (428.9)
CL Item
CARDIO STRUCTURE & CONDUCTION DX (429.3)
CL Item
CARDIO STRUCTURE & CONDUCTION DX (425.1)
CL Item
CARDIO STRUCTURE & CONDUCTION DX (426.82)
CL Item
CARDIO STRUCTURE & CONDUCTION DX (437.2)
CL Item
CARDIO STRUCTURE & CONDUCTION DX (785.20)
CL Item
CARDIO STRUCTURE & CONDUCTION DX (785.00)
CL Item
CARDIO STRUCTURE & CONDUCTION DX (276.90)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Chromosomal Anomalies
text
C1137111 (UMLS CUI [1,1])
C0008625 (UMLS CUI [1,2])
CHROMOSOMAL_ANOMALIES
Code List
ICD9 code representing phenotype of participant: Chromosomal Anomalies
CL Item
CHROMOSOMAL ANOMALIES (758.39)
CL Item
CHROMOSOMAL ANOMALIES (758.5)
CL Item
CHROMOSOMAL ANOMALIES (758.81)
CL Item
CHROMOSOMAL ANOMALIES (758.9)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Conditions Affecting Fetus and Newborn
text
C1137111 (UMLS CUI [1,1])
C1519760 (UMLS CUI [1,2])
C0021289 (UMLS CUI [1,3])
CONDITIONS_AFFECTING_FETUS_&_NEWBORN
Code List
ICD9 code representing phenotype of participant: Conditions Affecting Fetus and Newborn
CL Item
CONDITIONS AFFECTING FETUS & NEWBORN (760.71)
CL Item
CONDITIONS AFFECTING FETUS & NEWBORN (760.72)
CL Item
CONDITIONS AFFECTING FETUS & NEWBORN (760.9)
CL Item
CONDITIONS AFFECTING FETUS & NEWBORN (763.0)
CL Item
CONDITIONS AFFECTING FETUS & NEWBORN (765.22)
CL Item
CONDITIONS AFFECTING FETUS & NEWBORN (765.25)
CL Item
CONDITIONS AFFECTING FETUS & NEWBORN (767.0)
CL Item
CONDITIONS AFFECTING FETUS & NEWBORN (770.7)
CL Item
CONDITIONS AFFECTING FETUS & NEWBORN (771.7)
CL Item
CONDITIONS AFFECTING FETUS & NEWBORN (771.8)
CL Item
CONDITIONS AFFECTING FETUS & NEWBORN (774.6)
CL Item
CONDITIONS AFFECTING FETUS & NEWBORN (777.3)
CL Item
CONDITIONS AFFECTING FETUS & NEWBORN (778.4)
CL Item
CONDITIONS AFFECTING FETUS & NEWBORN (779.0)
CL Item
CONDITIONS AFFECTING FETUS & NEWBORN (779.3)
CL Item
CONDITIONS AFFECTING FETUS & NEWBORN (779.7)
CL Item
CONDITIONS AFFECTING FETUS & NEWBORN (783.41)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Congenital Anomaly - Heart
text
C1137111 (UMLS CUI [1,1])
C0152021 (UMLS CUI [1,2])
CONGENITAL_ANOMALY_HEART
Code List
ICD9 code representing phenotype of participant: Congenital Anomaly - Heart
CL Item
CONGENITAL ANOMALY HEART (745.10)
CL Item
CONGENITAL ANOMALY HEART (745.11)
CL Item
CONGENITAL ANOMALY HEART (745.2)
CL Item
CONGENITAL ANOMALY HEART (745.3)
CL Item
CONGENITAL ANOMALY HEART (745.4)
CL Item
CONGENITAL ANOMALY HEART (745.5)
CL Item
CONGENITAL ANOMALY HEART (745.69)
CL Item
CONGENITAL ANOMALY HEART (746.01)
CL Item
CONGENITAL ANOMALY HEART (746.02)
CL Item
CONGENITAL ANOMALY HEART (746.2)
CL Item
CONGENITAL ANOMALY HEART (746.3)
CL Item
CONGENITAL ANOMALY HEART (746.4)
CL Item
CONGENITAL ANOMALY HEART (746.5)
CL Item
CONGENITAL ANOMALY HEART (746.6)
CL Item
CONGENITAL ANOMALY HEART (746.7)
CL Item
CONGENITAL ANOMALY HEART (746.85)
CL Item
CONGENITAL ANOMALY HEART (746.87)
CL Item
CONGENITAL ANOMALY HEART (747.0)
CL Item
CONGENITAL ANOMALY HEART (747.10)
CL Item
CONGENITAL ANOMALY HEART (747.21)
CL Item
CONGENITAL ANOMALY HEART (747.22)
CL Item
CONGENITAL ANOMALY HEART (747.29)
CL Item
CONGENITAL ANOMALY HEART (747.3)
CL Item
CONGENITAL ANOMALY HEART (747.40)
CL Item
CONGENITAL ANOMALY HEART (747.42)
CL Item
CONGENITAL ANOMALY HEART (747.49)
CL Item
CONGENITAL ANOMALY HEART (746.89)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Congenital Anomaly - Other
text
C1137111 (UMLS CUI [1,1])
C0000768 (UMLS CUI [1,2])
C0205394 (UMLS CUI [1,3])
CONGENITAL_ANOMALY_OTHER
Code List
ICD9 code representing phenotype of participant: Congenital Anomaly - Other
CL Item
CONGENITAL ANOMALY OTHER (742.0)
CL Item
CONGENITAL ANOMALY OTHER (742.1)
CL Item
CONGENITAL ANOMALY OTHER (742.2)
CL Item
CONGENITAL ANOMALY OTHER (742.3)
CL Item
CONGENITAL ANOMALY OTHER (742.4)
CL Item
CONGENITAL ANOMALY OTHER (742.59)
CL Item
CONGENITAL ANOMALY OTHER (742.9)
CL Item
CONGENITAL ANOMALY OTHER (743.61)
CL Item
CONGENITAL ANOMALY OTHER (743.65)
CL Item
CONGENITAL ANOMALY OTHER (744.3)
CL Item
CONGENITAL ANOMALY OTHER (744.89)
CL Item
CONGENITAL ANOMALY OTHER (747.69)
CL Item
CONGENITAL ANOMALY OTHER (747.81)
CL Item
CONGENITAL ANOMALY OTHER (747.82)
CL Item
CONGENITAL ANOMALY OTHER (748.3)
CL Item
CONGENITAL ANOMALY OTHER (749.12)
CL Item
CONGENITAL ANOMALY OTHER (750.0)
CL Item
CONGENITAL ANOMALY OTHER (750.5)
CL Item
CONGENITAL ANOMALY OTHER (750.9)
CL Item
CONGENITAL ANOMALY OTHER (751.1)
CL Item
CONGENITAL ANOMALY OTHER (751.2)
CL Item
CONGENITAL ANOMALY OTHER (751.69)
CL Item
CONGENITAL ANOMALY OTHER (752.69)
CL Item
CONGENITAL ANOMALY OTHER (752.61)
CL Item
CONGENITAL ANOMALY OTHER (752.89)
CL Item
CONGENITAL ANOMALY OTHER (752.9)
CL Item
CONGENITAL ANOMALY OTHER (753.0)
CL Item
CONGENITAL ANOMALY OTHER (753.21)
CL Item
CONGENITAL ANOMALY OTHER (753.23)
CL Item
CONGENITAL ANOMALY OTHER (753.29)
CL Item
CONGENITAL ANOMALY OTHER (753.6)
CL Item
CONGENITAL ANOMALY OTHER (753.9)
CL Item
CONGENITAL ANOMALY OTHER (754.0)
CL Item
CONGENITAL ANOMALY OTHER (754.1)
CL Item
CONGENITAL ANOMALY OTHER (754.3)
CL Item
CONGENITAL ANOMALY OTHER (754.31)
CL Item
CONGENITAL ANOMALY OTHER (754.32)
CL Item
CONGENITAL ANOMALY OTHER (754.51)
CL Item
CONGENITAL ANOMALY OTHER (754.60)
CL Item
CONGENITAL ANOMALY OTHER (754.61)
CL Item
CONGENITAL ANOMALY OTHER (754.81)
CL Item
CONGENITAL ANOMALY OTHER (754.89)
CL Item
CONGENITAL ANOMALY OTHER (755.51)
CL Item
CONGENITAL ANOMALY OTHER (755.63)
CL Item
CONGENITAL ANOMALY OTHER (755.67)
CL Item
CONGENITAL ANOMALY OTHER (755.69)
CL Item
CONGENITAL ANOMALY OTHER (756.0)
CL Item
CONGENITAL ANOMALY OTHER (756.11)
CL Item
CONGENITAL ANOMALY OTHER (756.13)
CL Item
CONGENITAL ANOMALY OTHER (756.79)
CL Item
CONGENITAL ANOMALY OTHER (756.9)
CL Item
CONGENITAL ANOMALY OTHER (759.0)
CL Item
CONGENITAL ANOMALY OTHER (759.7)
CL Item
CONGENITAL ANOMALY OTHER (759.89)
CL Item
CONGENITAL ANOMALY OTHER (778.6)
CL Item
CONGENITAL ANOMALY OTHER (752.49)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Dermatological Dx
text
C1137111 (UMLS CUI [1,1])
C0037274 (UMLS CUI [1,2])
DERMATOLOGICAL_DX
Code List
ICD9 code representing phenotype of participant: Dermatological Dx
CL Item
DERMATOLOGICAL DX (690.12)
CL Item
DERMATOLOGICAL DX (691.8)
CL Item
DERMATOLOGICAL DX (692.72)
CL Item
DERMATOLOGICAL DX (692.9)
CL Item
DERMATOLOGICAL DX (695.1)
CL Item
DERMATOLOGICAL DX (695.2)
CL Item
DERMATOLOGICAL DX (695.3)
CL Item
DERMATOLOGICAL DX (696.0)
CL Item
DERMATOLOGICAL DX (696.1)
CL Item
DERMATOLOGICAL DX (696.5)
CL Item
DERMATOLOGICAL DX (698.9)
CL Item
DERMATOLOGICAL DX (701.2)
CL Item
DERMATOLOGICAL DX (701.5)
CL Item
DERMATOLOGICAL DX (701.9)
CL Item
DERMATOLOGICAL DX (702.8)
CL Item
DERMATOLOGICAL DX (704.00)
CL Item
DERMATOLOGICAL DX (706.1)
CL Item
DERMATOLOGICAL DX (709.00)
CL Item
DERMATOLOGICAL DX (709.09)
CL Item
DERMATOLOGICAL DX (709.2)
CL Item
DERMATOLOGICAL DX (709.8)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Developmental and Learning Dx
text
C1137111 (UMLS CUI [1,1])
C0424605 (UMLS CUI [1,2])
C0851265 (UMLS CUI [1,3])
DEVELOPMENTAL_&_LEARNING_DX
Code List
ICD9 code representing phenotype of participant: Developmental and Learning Dx
CL Item
DEVELOPMENTAL & LEARNING DX (299.90)
CL Item
DEVELOPMENTAL & LEARNING DX (299.80)
CL Item
DEVELOPMENTAL & LEARNING DX (315.00)
CL Item
DEVELOPMENTAL & LEARNING DX (315.02)
CL Item
DEVELOPMENTAL & LEARNING DX (315.1)
CL Item
DEVELOPMENTAL & LEARNING DX (315.2)
CL Item
DEVELOPMENTAL & LEARNING DX (315.31)
CL Item
DEVELOPMENTAL & LEARNING DX (315.32)
CL Item
DEVELOPMENTAL & LEARNING DX (315.34)
CL Item
DEVELOPMENTAL & LEARNING DX (315.39)
CL Item
DEVELOPMENTAL & LEARNING DX (315.4)
CL Item
DEVELOPMENTAL & LEARNING DX (315.5)
CL Item
DEVELOPMENTAL & LEARNING DX (315.8)
CL Item
DEVELOPMENTAL & LEARNING DX (315.9)
CL Item
DEVELOPMENTAL & LEARNING DX (316)
CL Item
DEVELOPMENTAL & LEARNING DX (317)
CL Item
DEVELOPMENTAL & LEARNING DX (318.0)
CL Item
DEVELOPMENTAL & LEARNING DX (318.1)
CL Item
DEVELOPMENTAL & LEARNING DX (318.2)
CL Item
DEVELOPMENTAL & LEARNING DX (319)
CL Item
DEVELOPMENTAL & LEARNING DX (783.42)
CL Item
DEVELOPMENTAL & LEARNING DX (784.60)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Diabetes Type 1
text
C1137111 (UMLS CUI [1,1])
C0011854 (UMLS CUI [1,2])
DIABETES_TYPE_1
Code List
ICD9 code representing phenotype of participant: Diabetes Type 1
CL Item
DIABETES TYPE 1 (250.01)
CL Item
DIABETES TYPE 1 (250.03)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Diabetes Type 2
text
C1137111 (UMLS CUI [1,1])
C0011860 (UMLS CUI [1,2])
DIABETES_TYPE_2
Code List
ICD9 code representing phenotype of participant: Diabetes Type 2
CL Item
DIABETES TYPE 2 (250.00)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Endocrine Dx
text
C1137111 (UMLS CUI [1,1])
C0014130 (UMLS CUI [1,2])
ENDOCRINE_DX
Code List
ICD9 code representing phenotype of participant: Endocrine Dx
CL Item
ENDOCRINE DX (251.1)
CL Item
ENDOCRINE DX (251.2)
CL Item
ENDOCRINE DX (253.0)
CL Item
ENDOCRINE DX (253.1)
CL Item
ENDOCRINE DX (253.6)
CL Item
ENDOCRINE DX (255.2)
CL Item
ENDOCRINE DX (255.41)
CL Item
ENDOCRINE DX (256.4)
CL Item
ENDOCRINE DX (259.1)
CL Item
ENDOCRINE DX (625.3)
CL Item
ENDOCRINE DX (626.2)
CL Item
ENDOCRINE DX (626.4)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: ENT (Ear - Nose - Throat) Dx
text
C1137111 (UMLS CUI [1,1])
C0395797 (UMLS CUI [1,2])
ENT_DX
Code List
ICD9 code representing phenotype of participant: ENT (Ear - Nose - Throat) Dx
CL Item
ENT DX (380.81)
CL Item
ENT DX (381.81)
CL Item
ENT DX (388.30)
CL Item
ENT DX (388.42)
CL Item
ENT DX (478.31)
CL Item
ENT DX (478.33)
CL Item
ENT DX (478.5)
CL Item
ENT DX (478.74)
CL Item
ENT DX (478.75)
CL Item
ENT DX (478.79)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Epilepsy and Seizure Dx
text
C1137111 (UMLS CUI [1,1])
C0014544 (UMLS CUI [1,2])
C0036572 (UMLS CUI [1,3])
EPILEPSY_&_SEIZURE_DX
Code List
ICD9 code representing phenotype of participant: Epilepsy and Seizure Dx
CL Item
EPILEPSY & SEIZURE DX (345.00)
CL Item
EPILEPSY & SEIZURE DX (345.10)
CL Item
EPILEPSY & SEIZURE DX (345.11)
CL Item
EPILEPSY & SEIZURE DX (345.3)
CL Item
EPILEPSY & SEIZURE DX (345.40)
CL Item
EPILEPSY & SEIZURE DX (345.41)
CL Item
EPILEPSY & SEIZURE DX (345.50)
CL Item
EPILEPSY & SEIZURE DX (345.60)
CL Item
EPILEPSY & SEIZURE DX (345.90)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Gastrointestinal - Lower Dx
text
C1137111 (UMLS CUI [1,1])
C0266805 (UMLS CUI [1,2])
GASTROINTESTINAL_LOWER_DX
Code List
ICD9 code representing phenotype of participant: Gastrointestinal - Lower Dx
CL Item
GASTROINTESTINAL LOWER DX (550.90)
CL Item
GASTROINTESTINAL LOWER DX (550.92)
CL Item
GASTROINTESTINAL LOWER DX (553.1)
CL Item
GASTROINTESTINAL LOWER DX (555.0)
CL Item
GASTROINTESTINAL LOWER DX (555.2)
CL Item
GASTROINTESTINAL LOWER DX (555.9)
CL Item
GASTROINTESTINAL LOWER DX (556.6)
CL Item
GASTROINTESTINAL LOWER DX (556.9)
CL Item
GASTROINTESTINAL LOWER DX (558.9)
CL Item
GASTROINTESTINAL LOWER DX (560.2)
CL Item
GASTROINTESTINAL LOWER DX (574.40)
CL Item
GASTROINTESTINAL LOWER DX (575.11)
CL Item
GASTROINTESTINAL LOWER DX (577.1)
CL Item
GASTROINTESTINAL LOWER DX (577.2)
CL Item
GASTROINTESTINAL LOWER DX (578.0)
CL Item
GASTROINTESTINAL LOWER DX (578.1)
CL Item
GASTROINTESTINAL LOWER DX (579.0)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Gastrointestinal - Upper Dx
text
C1137111 (UMLS CUI [1,1])
C1290613 (UMLS CUI [1,2])
GASTROINTESTINAL_UPPER_DX
Code List
ICD9 code representing phenotype of participant: Gastrointestinal - Upper Dx
CL Item
GASTROINTESTINAL UPPER DX (533.90)
CL Item
GASTROINTESTINAL UPPER DX (535.11)
CL Item
GASTROINTESTINAL UPPER DX (535.50)
CL Item
GASTROINTESTINAL UPPER DX (536.2)
CL Item
GASTROINTESTINAL UPPER DX (536.3)
CL Item
GASTROINTESTINAL UPPER DX (540.9)
CL Item
GASTROINTESTINAL UPPER DX (541)
CL Item
GASTROINTESTINAL UPPER DX (530.81)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Genetic Syndromes
text
C1137111 (UMLS CUI [1,1])
C0019247 (UMLS CUI [1,2])
GENETIC _SYNDROMES
Code List
ICD9 code representing phenotype of participant: Genetic Syndromes
CL Item
GENETIC SYNDROMES (237.71)
CL Item
GENETIC SYNDROMES (272.0)
CL Item
GENETIC SYNDROMES (277.00)
CL Item
GENETIC SYNDROMES (277.02)
CL Item
GENETIC SYNDROMES (277.03)
CL Item
GENETIC SYNDROMES (277.5)
CL Item
GENETIC SYNDROMES (756.83)
CL Item
GENETIC SYNDROMES (758.7)
CL Item
GENETIC SYNDROMES (759.81)
CL Item
GENETIC SYNDROMES (759.82)
CL Item
GENETIC SYNDROMES (759.83)
CL Item
GENETIC SYNDROMES (758.0)
CL Item
GENETIC SYNDROMES (279.11)
CL Item
GENETIC SYNDROMES (756.51)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Genitourinary Dx
text
C1137111 (UMLS CUI [1,1])
C0080276 (UMLS CUI [1,2])
GENITOURINARY_DX
Code List
ICD9 code representing phenotype of participant: Genitourinary Dx
CL Item
GENITOURINARY DX (593.70)
CL Item
GENITOURINARY DX (593.71)
CL Item
GENITOURINARY DX (593.72)
CL Item
GENITOURINARY DX (595.0)
CL Item
GENITOURINARY DX (596.54)
CL Item
GENITOURINARY DX (597.89)
CL Item
GENITOURINARY DX (603.8)
CL Item
GENITOURINARY DX (603.9)
CL Item
GENITOURINARY DX (604.90)
CL Item
GENITOURINARY DX (605)
CL Item
GENITOURINARY DX (608.89)
CL Item
GENITOURINARY DX (608.9)
CL Item
GENITOURINARY DX (614.9)
CL Item
GENITOURINARY DX (616.10)
CL Item
GENITOURINARY DX (617.3)
CL Item
GENITOURINARY DX (617.9)
CL Item
GENITOURINARY DX (625.8)
CL Item
GENITOURINARY DX (625.9)
CL Item
GENITOURINARY DX (752.65)
CL Item
GENITOURINARY DX (752.51)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Hearing Impairment Dx
text
C1137111 (UMLS CUI [1,1])
C1384666 (UMLS CUI [1,2])
HEARING_IMPAIRMENT_DX
Code List
ICD9 code representing phenotype of participant: Hearing Impairment Dx
CL Item
HEARING IMPAIRMENT DX (388.43)
CL Item
HEARING IMPAIRMENT DX (389.10)
CL Item
HEARING IMPAIRMENT DX (389.11)
CL Item
HEARING IMPAIRMENT DX (389.8)
CL Item
HEARING IMPAIRMENT DX (389.9)
CL Item
HEARING IMPAIRMENT DX (389.03)
CL Item
HEARING IMPAIRMENT DX (389.12)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Immune System Dx
text
C1137111 (UMLS CUI [1,1])
C0021053 (UMLS CUI [1,2])
IMMUNE_SYSTEM_DX
Code List
ICD9 code representing phenotype of participant: Immune System Dx
CL Item
IMMUNE SYSTEM DX (279.00)
CL Item
IMMUNE SYSTEM DX (279.04)
CL Item
IMMUNE SYSTEM DX (279.3)
CL Item
IMMUNE SYSTEM DX (795.79)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Musculoskeletal Dx
text
C1137111 (UMLS CUI [1,1])
C0026857 (UMLS CUI [1,2])
MUSCULOSKELETAL_DX
Code List
ICD9 code representing phenotype of participant: Musculoskeletal Dx
CL Item
MUSCULOSKELETAL DX (710.9)
CL Item
MUSCULOSKELETAL DX (723.5)
CL Item
MUSCULOSKELETAL DX (727.00)
CL Item
MUSCULOSKELETAL DX (728.5)
CL Item
MUSCULOSKELETAL DX (728.89)
CL Item
MUSCULOSKELETAL DX (728.9)
CL Item
MUSCULOSKELETAL DX (732.4)
CL Item
MUSCULOSKELETAL DX (732.7)
CL Item
MUSCULOSKELETAL DX (733.90)
CL Item
MUSCULOSKELETAL DX (733.99)
CL Item
MUSCULOSKELETAL DX (736)
CL Item
MUSCULOSKELETAL DX (736.71)
CL Item
MUSCULOSKELETAL DX (736.79)
CL Item
MUSCULOSKELETAL DX (737.19)
CL Item
MUSCULOSKELETAL DX (737.20)
CL Item
MUSCULOSKELETAL DX (737.30)
CL Item
MUSCULOSKELETAL DX (737.41)
CL Item
MUSCULOSKELETAL DX (734)
CL Item
MUSCULOSKELETAL DX (735.0)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Neurological Dx
text
C1137111 (UMLS CUI [1,1])
C0027765 (UMLS CUI [1,2])
NEUROLOGICAL_DX
Code List
ICD9 code representing phenotype of participant: Neurological Dx
CL Item
NEUROLOGICAL DX (324.1)
CL Item
NEUROLOGICAL DX (327.01)
CL Item
NEUROLOGICAL DX (327.10)
CL Item
NEUROLOGICAL DX (327.23)
CL Item
NEUROLOGICAL DX (327.31)
CL Item
NEUROLOGICAL DX (327.39)
CL Item
NEUROLOGICAL DX (330.8)
CL Item
NEUROLOGICAL DX (331.4)
CL Item
NEUROLOGICAL DX (331.9)
CL Item
NEUROLOGICAL DX (346.00)
CL Item
NEUROLOGICAL DX (346.10)
CL Item
NEUROLOGICAL DX (346.90)
CL Item
NEUROLOGICAL DX (348.0)
CL Item
NEUROLOGICAL DX (348.4)
CL Item
NEUROLOGICAL DX (349.9)
CL Item
NEUROLOGICAL DX (358.8)
CL Item
NEUROLOGICAL DX (307.20)
CL Item
NEUROLOGICAL DX (307.21)
CL Item
NEUROLOGICAL DX (307.23)
CL Item
NEUROLOGICAL DX (307.6)
CL Item
NEUROLOGICAL DX (307.7)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Neuromuscular Dx
text
C1137111 (UMLS CUI [1,1])
C0027868 (UMLS CUI [1,2])
NEUROMUSCULAR_DX
Code List
ICD9 code representing phenotype of participant: Neuromuscular Dx
CL Item
NEUROMUSCULAR DX (333.20)
CL Item
NEUROMUSCULAR DX (334.30)
CL Item
NEUROMUSCULAR DX (336.9)
CL Item
NEUROMUSCULAR DX (337.21)
CL Item
NEUROMUSCULAR DX (337.22)
CL Item
NEUROMUSCULAR DX (337.29)
CL Item
NEUROMUSCULAR DX (340)
CL Item
NEUROMUSCULAR DX (342.90)
CL Item
NEUROMUSCULAR DX (343.1)
CL Item
NEUROMUSCULAR DX (343.2)
CL Item
NEUROMUSCULAR DX (343.9)
CL Item
NEUROMUSCULAR DX (718.44)
CL Item
NEUROMUSCULAR DX (727.81)
CL Item
NEUROMUSCULAR DX (728.87)
CL Item
NEUROMUSCULAR DX (335.10)
CL Item
NEUROMUSCULAR DX (334.0)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Nutrition and Metabolism Dx
text
C1137111 (UMLS CUI [1,1])
C0851358 (UMLS CUI [1,2])
NUTRITION_&_METABOLISM_DX
Code List
ICD9 code representing phenotype of participant: Nutrition and Metabolism Dx
CL Item
NUTRITION & METABOLISM DX (262)
CL Item
NUTRITION & METABOLISM DX (263.1)
CL Item
NUTRITION & METABOLISM DX (268.9)
CL Item
NUTRITION & METABOLISM DX (269.9)
CL Item
NUTRITION & METABOLISM DX (270.7)
CL Item
NUTRITION & METABOLISM DX (271.0)
CL Item
NUTRITION & METABOLISM DX (275.40)
CL Item
NUTRITION & METABOLISM DX (275.41)
CL Item
NUTRITION & METABOLISM DX (277.6)
CL Item
NUTRITION & METABOLISM DX (277.85)
CL Item
NUTRITION & METABOLISM DX (277.87)
CL Item
NUTRITION & METABOLISM DX (277.9)
CL Item
NUTRITION & METABOLISM DX (278.00)
CL Item
NUTRITION & METABOLISM DX (278.01)
CL Item
NUTRITION & METABOLISM DX (278.02)
CL Item
NUTRITION & METABOLISM DX (271.1)
CL Item
NUTRITION & METABOLISM DX (276.20)
CL Item
NUTRITION & METABOLISM DX (276.10)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Ocular Dx
text
C1137111 (UMLS CUI [1,1])
C0015397 (UMLS CUI [1,2])
OCULAR_DX
Code List
ICD9 code representing phenotype of participant: Ocular Dx
CL Item
OCULAR DX (362.63)
CL Item
OCULAR DX (362.76)
CL Item
OCULAR DX (367.0)
CL Item
OCULAR DX (367.1)
CL Item
OCULAR DX (367.20)
CL Item
OCULAR DX (367.21)
CL Item
OCULAR DX (368.01)
CL Item
OCULAR DX (368.03)
CL Item
OCULAR DX (368.2)
CL Item
OCULAR DX (368.40)
CL Item
OCULAR DX (368.8)
CL Item
OCULAR DX (374.30)
CL Item
OCULAR DX (375.15)
CL Item
OCULAR DX (375.30)
CL Item
OCULAR DX (375.55)
CL Item
OCULAR DX (375.56)
CL Item
OCULAR DX (377.75)
CL Item
OCULAR DX (378.00)
CL Item
OCULAR DX (378.22)
CL Item
OCULAR DX (378.24)
CL Item
OCULAR DX (378.35)
CL Item
OCULAR DX (378.41)
CL Item
OCULAR DX (378.42)
CL Item
OCULAR DX (378.53)
CL Item
OCULAR DX (378.61)
CL Item
OCULAR DX (378.87)
CL Item
OCULAR DX (379.31)
CL Item
OCULAR DX (379.50)
CL Item
OCULAR DX (379.51)
CL Item
OCULAR DX (379.56)
CL Item
OCULAR DX (379.59)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Oral Dx
text
C1137111 (UMLS CUI [1,1])
C0026636 (UMLS CUI [1,2])
ORAL_DX
Code List
ICD9 code representing phenotype of participant: Oral Dx
CL Item
ORAL DX (520.6)
CL Item
ORAL DX (520.7)
CL Item
ORAL DX (521.00)
CL Item
ORAL DX (521.09)
CL Item
ORAL DX (521.6)
CL Item
ORAL DX (525.8)
CL Item
ORAL DX (527.1)
CL Item
ORAL DX (527.6)
CL Item
ORAL DX (528.00)
CL Item
ORAL DX (524.30)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Psychological Dx
text
C1137111 (UMLS CUI [1,1])
C0004936 (UMLS CUI [1,2])
PSYCHOLOGICAL_DX
Code List
ICD9 code representing phenotype of participant: Psychological Dx
CL Item
PSYCHOLOGICAL DX (294.9)
CL Item
PSYCHOLOGICAL DX (296.33)
CL Item
PSYCHOLOGICAL DX (296.7)
CL Item
PSYCHOLOGICAL DX (296.80)
CL Item
PSYCHOLOGICAL DX (296.90)
CL Item
PSYCHOLOGICAL DX (298.9)
CL Item
PSYCHOLOGICAL DX (300.00)
CL Item
PSYCHOLOGICAL DX (300.01)
CL Item
PSYCHOLOGICAL DX (300.02)
CL Item
PSYCHOLOGICAL DX (300.3)
CL Item
PSYCHOLOGICAL DX (300.4)
CL Item
PSYCHOLOGICAL DX (301.13)
CL Item
PSYCHOLOGICAL DX (301.9)
CL Item
PSYCHOLOGICAL DX (308.3)
CL Item
PSYCHOLOGICAL DX (309.0)
CL Item
PSYCHOLOGICAL DX (309.21)
CL Item
PSYCHOLOGICAL DX (309.24)
CL Item
PSYCHOLOGICAL DX (309.28)
CL Item
PSYCHOLOGICAL DX (309.3)
CL Item
PSYCHOLOGICAL DX (309.4)
CL Item
PSYCHOLOGICAL DX (309.81)
CL Item
PSYCHOLOGICAL DX (309.9)
CL Item
PSYCHOLOGICAL DX (310.2)
CL Item
PSYCHOLOGICAL DX (311)
CL Item
PSYCHOLOGICAL DX (312.00)
CL Item
PSYCHOLOGICAL DX (307.59)
CL Item
PSYCHOLOGICAL DX (313.23)
CL Item
PSYCHOLOGICAL DX (313.81)
CL Item
PSYCHOLOGICAL DX (313.9)
CL Item
PSYCHOLOGICAL DX (307.52)
CL Item
PSYCHOLOGICAL DX (312.9)
CL Item
PSYCHOLOGICAL DX (307.1)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Renal Dx
text
C1137111 (UMLS CUI [1,1])
C0022658 (UMLS CUI [1,2])
RENAL_DX
Code List
ICD9 code representing phenotype of participant: Renal Dx
CL Item
RENAL DX (580.9)
CL Item
RENAL DX (581.9)
CL Item
RENAL DX (585.6)
CL Item
RENAL DX (588.81)
CL Item
RENAL DX (590.80)
CL Item
RENAL DX (591)
CL Item
RENAL DX (592.0)
CL Item
RENAL DX (593.2)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Respiratory Dx
text
C1137111 (UMLS CUI [1,1])
C0035204 (UMLS CUI [1,2])
RESPIRATORY_DX
Code List
ICD9 code representing phenotype of participant: Respiratory Dx
CL Item
RESPIRATORY DX (511.9)
CL Item
RESPIRATORY DX (518.0)
CL Item
RESPIRATORY DX (518.82)
CL Item
RESPIRATORY DX (518.89)
CL Item
RESPIRATORY DX (519.19)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Thyroid Dx
text
C1137111 (UMLS CUI [1,1])
C0040128 (UMLS CUI [1,2])
THYROID_DX
Code List
ICD9 code representing phenotype of participant: Thyroid Dx
CL Item
THYROID DX (240.9)
CL Item
THYROID DX (243)
CL Item
THYROID DX (244.3)
CL Item
THYROID DX (244.9)
CL Item
THYROID DX (245.2)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Vascular Dx
text
C1137111 (UMLS CUI [1,1])
C0042373 (UMLS CUI [1,2])
VASCULAR_DX
Code List
ICD9 code representing phenotype of participant: Vascular Dx
CL Item
VASCULAR DX (401.9)
CL Item
VASCULAR DX (414.11)
CL Item
VASCULAR DX (416.0)
CL Item
VASCULAR DX (416.8)
CL Item
VASCULAR DX (437.5)
CL Item
VASCULAR DX (441.9)
CL Item
VASCULAR DX (443.0)
CL Item
VASCULAR DX (458.0)
CL Item
VASCULAR DX (458.29)
CL Item
VASCULAR DX (458.9)
CL Item
VASCULAR DX (459.89)
CL Item
No significant phenotype in this category (NA)
Item
ICD9 code representing phenotype of participant: Other and Infectious Dx
text
C1137111 (UMLS CUI [1,1])
C3714514 (UMLS CUI [1,2])
C0205394 (UMLS CUI [1,3])
C0012634 (UMLS CUI [1,4])
OTHER_&_INFECTIOUS_DX
Code List
ICD9 code representing phenotype of participant: Other and Infectious Dx
CL Item
OTHER & INFECTIOUS DX (752.51)
CL Item
OTHER & INFECTIOUS DX (009.3)
CL Item
OTHER & INFECTIOUS DX (041.11)
CL Item
OTHER & INFECTIOUS DX (078.0)
CL Item
OTHER & INFECTIOUS DX (088.81)
CL Item
OTHER & INFECTIOUS DX (110.0)
CL Item
OTHER & INFECTIOUS DX (127.4)
CL Item
OTHER & INFECTIOUS DX (372.14)
CL Item
OTHER & INFECTIOUS DX (372.30)
CL Item
OTHER & INFECTIOUS DX (381.10)
CL Item
OTHER & INFECTIOUS DX (381.20)
CL Item
OTHER & INFECTIOUS DX (381.3)
CL Item
OTHER & INFECTIOUS DX (382.00)
CL Item
OTHER & INFECTIOUS DX (382.02)
CL Item
OTHER & INFECTIOUS DX (382.9)
CL Item
OTHER & INFECTIOUS DX (384.20)
CL Item
OTHER & INFECTIOUS DX (388.70)
CL Item
OTHER & INFECTIOUS DX (462)
CL Item
OTHER & INFECTIOUS DX (463)
CL Item
OTHER & INFECTIOUS DX (465.9)
CL Item
OTHER & INFECTIOUS DX (466.0)
CL Item
OTHER & INFECTIOUS DX (466.11)
CL Item
OTHER & INFECTIOUS DX (466.19)
CL Item
OTHER & INFECTIOUS DX (472.0)
CL Item
OTHER & INFECTIOUS DX (473.0)
CL Item
OTHER & INFECTIOUS DX (474.00)
CL Item
OTHER & INFECTIOUS DX (474.01)
CL Item
OTHER & INFECTIOUS DX (474.02)
CL Item
OTHER & INFECTIOUS DX (474.10)
CL Item
OTHER & INFECTIOUS DX (474.11)
CL Item
OTHER & INFECTIOUS DX (474.12)
CL Item
OTHER & INFECTIOUS DX (475)
CL Item
OTHER & INFECTIOUS DX (478.19)
CL Item
OTHER & INFECTIOUS DX (478.29)
CL Item
OTHER & INFECTIOUS DX (486)
CL Item
OTHER & INFECTIOUS DX (507.0)
CL Item
OTHER & INFECTIOUS DX (564.00)
CL Item
OTHER & INFECTIOUS DX (564.09)
CL Item
OTHER & INFECTIOUS DX (599.0)
CL Item
OTHER & INFECTIOUS DX (711.06)
CL Item
OTHER & INFECTIOUS DX (446.1)
CL Item
OTHER & INFECTIOUS DX (112.0)
CL Item
OTHER & INFECTIOUS DX (009.00)
CL Item
OTHER & INFECTIOUS DX (9.00)
CL Item
OTHER & INFECTIOUS DX (546.00)
CL Item
OTHER & INFECTIOUS DX (489.00)
CL Item
OTHER & INFECTIOUS DX (730.12)
CL Item
OTHER & INFECTIOUS DX (371.14)
CL Item
OTHER & INFECTIOUS DX (381.00)
CL Item
No significant phenotype in this category (NA)
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