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Subject ID, age, race, sex, and diagnostic criteria of participants with or without protein losing enteropathy, thrombosis, and complement dysregulation and involved in the "Autosomal Recessive CD55 Deficiency is Associated with Protein Losing Enteropathy, Thrombosis, and Complement Dysregulation" project.

6 Formulaires  
  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. Subject ID, consent group, and affection status of participants with or without protein losing enteropathy, thrombosis, and complement dysregulation and involved in the "Autosomal Recessive CD55 Deficiency is Associated with Protein Losing Enteropathy, Thrombosis, and Complement Dysregulation" project.
    3. Subject ID, father ID, mother ID, and sex of participants with or without protein losing enteropathy, thrombosis, and complement dysregulation and involved in the "Autosomal Recessive CD55 Deficiency is Associated with Protein Losing Enteropathy, Thrombosis, and Complement Dysregulation" project.
    4. Subject ID, sample ID, and sample use variable of participants with or without protein losing enteropathy, thrombosis, and complement dysregulation and involved in the "Autosomal Recessive CD55 Deficiency is Associated with Protein Losing Enteropathy, Thrombosis, and Complement Dysregulation" project.
    5. Subject ID, age, race, sex, and diagnostic criteria of participants with or without protein losing enteropathy, thrombosis, and complement dysregulation and involved in the "Autosomal Recessive CD55 Deficiency is Associated with Protein Losing Enteropathy, Thrombosis, and Complement Dysregulation" project.
    6. Sample ID, analyte type, body site, genotyping center, and tumor status of sample of participants with or without protein losing enteropathy, thrombosis, and complement dysregulation and involved in the "Autosomal Recessive CD55 Deficiency is Associated with Protein Losing Enteropathy, Thrombosis, and Complement Dysregulation" project.
pht006554
Description

pht006554

Alias
UMLS CUI [1,1]
C3846158
De-identified Subject ID
Description

SUBJECT_ID

Type de données

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C2348585
Subject age
Description

Age

Type de données

text

Unités de mesure
  • Years
Alias
UMLS CUI [1,1]
C0001779
Gender of participant
Description

Sex

Type de données

text

Alias
UMLS CUI [1,1]
C0079399
Race of participant [African American, Asian, Caucasian, Hispanic, Non-Hispanic]
Description

Race

Type de données

string

Alias
UMLS CUI [1,1]
C0034510
UMLS CUI [1,2]
C1518424
UMLS CUI [1,3]
C0086409
UMLS CUI [1,4]
C0085756
UMLS CUI [1,5]
C0078988
UMLS CUI [1,6]
C0043157
Diagnosis criteria - Protein Deficiency
Description

CD55 Deficiency

Type de données

string

Alias
UMLS CUI [1,1]
C0679228
UMLS CUI [1,2]
C0033626
Diagnosis criteria - PLE
Description

Protein Losing Enteropathy

Type de données

string

Alias
UMLS CUI [1,1]
C0679228
UMLS CUI [1,2]
C0033680
Diagnosis criteria - PIL
Description

Primary Intestinal Lymphangiectasia

Type de données

string

Alias
UMLS CUI [1,1]
C0679228
UMLS CUI [1,2]
C3846158
Diagnosis criteria - Respiratory Infections
Description

Respiratory Infections

Type de données

string

Alias
UMLS CUI [1,1]
C0679228
UMLS CUI [1,2]
C0035243
Diagnosis criteria - Thrombosis
Description

Thrombosis

Type de données

string

Alias
UMLS CUI [1,1]
C0679228
UMLS CUI [1,2]
C0040053
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Similar models

Subject ID, age, race, sex, and diagnostic criteria of participants with or without protein losing enteropathy, thrombosis, and complement dysregulation and involved in the "Autosomal Recessive CD55 Deficiency is Associated with Protein Losing Enteropathy, Thrombosis, and Complement Dysregulation" project.

6 Formulaires
  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. Subject ID, consent group, and affection status of participants with or without protein losing enteropathy, thrombosis, and complement dysregulation and involved in the "Autosomal Recessive CD55 Deficiency is Associated with Protein Losing Enteropathy, Thrombosis, and Complement Dysregulation" project.
    3. Subject ID, father ID, mother ID, and sex of participants with or without protein losing enteropathy, thrombosis, and complement dysregulation and involved in the "Autosomal Recessive CD55 Deficiency is Associated with Protein Losing Enteropathy, Thrombosis, and Complement Dysregulation" project.
    4. Subject ID, sample ID, and sample use variable of participants with or without protein losing enteropathy, thrombosis, and complement dysregulation and involved in the "Autosomal Recessive CD55 Deficiency is Associated with Protein Losing Enteropathy, Thrombosis, and Complement Dysregulation" project.
    5. Subject ID, age, race, sex, and diagnostic criteria of participants with or without protein losing enteropathy, thrombosis, and complement dysregulation and involved in the "Autosomal Recessive CD55 Deficiency is Associated with Protein Losing Enteropathy, Thrombosis, and Complement Dysregulation" project.
    6. Sample ID, analyte type, body site, genotyping center, and tumor status of sample of participants with or without protein losing enteropathy, thrombosis, and complement dysregulation and involved in the "Autosomal Recessive CD55 Deficiency is Associated with Protein Losing Enteropathy, Thrombosis, and Complement Dysregulation" project.
Name
Type
Description | Question | Decode (Coded Value)
Type de données
Alias
Item Group
pht006554
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
De-identified Subject ID
string
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
Item
Subject age
text
C0001779 (UMLS CUI [1,1])
Age
Code List
Subject age
CL Item
Missing (9999)
CL Item
Not assessed (1000)
Item
Gender of participant
text
C0079399 (UMLS CUI [1,1])
Sex
Code List
Gender of participant
CL Item
Female (F)
C0086287 (UMLS CUI [1,1])
CL Item
Male (M)
C0086582 (UMLS CUI [1,1])
Race
Item
Race of participant [African American, Asian, Caucasian, Hispanic, Non-Hispanic]
string
C0034510 (UMLS CUI [1,1])
C1518424 (UMLS CUI [1,2])
C0086409 (UMLS CUI [1,3])
C0085756 (UMLS CUI [1,4])
C0078988 (UMLS CUI [1,5])
C0043157 (UMLS CUI [1,6])
CD55 Deficiency
Item
Diagnosis criteria - Protein Deficiency
string
C0679228 (UMLS CUI [1,1])
C0033626 (UMLS CUI [1,2])
Protein Losing Enteropathy
Item
Diagnosis criteria - PLE
string
C0679228 (UMLS CUI [1,1])
C0033680 (UMLS CUI [1,2])
Primary Intestinal Lymphangiectasia
Item
Diagnosis criteria - PIL
string
C0679228 (UMLS CUI [1,1])
C3846158 (UMLS CUI [1,2])
Respiratory Infections
Item
Diagnosis criteria - Respiratory Infections
string
C0679228 (UMLS CUI [1,1])
C0035243 (UMLS CUI [1,2])
Thrombosis
Item
Diagnosis criteria - Thrombosis
string
C0679228 (UMLS CUI [1,1])
C0040053 (UMLS CUI [1,2])
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