English

Eligibility Criteria

6 forms  
  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.
Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
Patient samples were chosen for inclusion in the project based on the following criteria:
Description

Patient samples were chosen for inclusion in the project based on the following criteria:

Data type

boolean

Alias
UMLS CUI [1,1]
C0370003
UMLS CUI [1,2]
C1512693
UMLS CUI [1,3]
C0243161
Families who had similar syndromic features were studied
Description

Families who had similar syndromic features were studied

Data type

boolean

Alias
UMLS CUI [1,1]
C0015576
UMLS CUI [1,2]
C5453017
UMLS CUI [1,3]
C2603343
Patients, parents and other family members are available
Description

Patients, parents and other family members are available

Data type

boolean

Alias
UMLS CUI [1,1]
C0470187
UMLS CUI [1,2]
C0086282
UMLS CUI [1,3]
C0030551
DNA was available for use in whole genome or exome sequencing
Description

DNA was available for use in whole genome or exome sequencing

Data type

boolean

Alias
UMLS CUI [1,1]
C0012854
UMLS CUI [1,2]
C3640076
UMLS CUI [1,3]
C3640077
Informed consent documentation
Description

Informed consent documentation

Data type

boolean

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C0920316
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Similar models

Eligibility Criteria

6 forms
  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)
Data type
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Patient samples were chosen for inclusion in the project based on the following criteria:
Item
Patient samples were chosen for inclusion in the project based on the following criteria:
boolean
C0370003 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0243161 (UMLS CUI [1,3])
Families who had similar syndromic features were studied
Item
Families who had similar syndromic features were studied
boolean
C0015576 (UMLS CUI [1,1])
C5453017 (UMLS CUI [1,2])
C2603343 (UMLS CUI [1,3])
Patients, parents and other family members are available
Item
Patients, parents and other family members are available
boolean
C0470187 (UMLS CUI [1,1])
C0086282 (UMLS CUI [1,2])
C0030551 (UMLS CUI [1,3])
DNA was available for use in whole genome or exome sequencing
Item
DNA was available for use in whole genome or exome sequencing
boolean
C0012854 (UMLS CUI [1,1])
C3640076 (UMLS CUI [1,2])
C3640077 (UMLS CUI [1,3])
Informed consent documentation
Item
Informed consent documentation
boolean
C0021430 (UMLS CUI [1,1])
C0920316 (UMLS CUI [1,2])
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