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Subject ID, gender, age, disease onset age, ethnicity, birth place, and first- cousin marriage of parents of subjects with or without Joubert syndrome and involved in the "CIDR Whole Exome Sequencing in Joubert Syndrome" project.

5 Formulär  
pht002323
Beskrivning

pht002323

De-identified subject ID
Beskrivning

SUBJECT_ID

Datatyp

text

Alias
UMLS CUI [1,1]
C2346787
UMLS CUI [1,2]
C2348585
Gender of participant
Beskrivning

gender

Datatyp

text

Alias
UMLS CUI [1,1]
C0079399
Participant's age at time of study
Beskrivning

age

Datatyp

text

Måttenheter
  • Years
Alias
UMLS CUI [1,1]
C0001779
Years
Disease onset age
Beskrivning

onset

Datatyp

text

Måttenheter
  • years
Alias
UMLS CUI [1,1]
C0206132
years
Ethnicity of participant [Arabic, Turkish, Pakistani, Sudanese, Indian]
Beskrivning

ethnicity

Datatyp

text

Alias
UMLS CUI [1,1]
C0015031
Place of subject's birth [Egypt, Turkey, Jordan, Saudi-Arabia, Pakistan, United Arab Emirates, Yemen, Qatar, India, Kuwait]
Beskrivning

birth place

Datatyp

text

Alias
UMLS CUI [1,1]
C0032040
First-cousin marriage of parents
Beskrivning

consanguinity

Datatyp

text

Alias
UMLS CUI [1,1]
C2598510
UMLS CUI [1,2]
C0337580
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Similar models

Subject ID, gender, age, disease onset age, ethnicity, birth place, and first- cousin marriage of parents of subjects with or without Joubert syndrome and involved in the "CIDR Whole Exome Sequencing in Joubert Syndrome" project.

5 Formulär
Name
Typ
Description | Question | Decode (Coded Value)
Datatyp
Alias
Item Group
pht002323
SUBJECT_ID
Item
De-identified subject ID
text
C2346787 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
Item
Gender of participant
text
C0079399 (UMLS CUI [1,1])
gender
Code List
Gender of participant
CL Item
Female (F)
CL Item
Male (M)
age
Item
Participant's age at time of study
text
C0001779 (UMLS CUI [1,1])
onset
Item
Disease onset age
text
C0206132 (UMLS CUI [1,1])
Item
Ethnicity of participant [Arabic, Turkish, Pakistani, Sudanese, Indian]
text
C0015031 (UMLS CUI [1,1])
ethnicity
Code List
Ethnicity of participant [Arabic, Turkish, Pakistani, Sudanese, Indian]
CL Item
Unknown (UNK)
Item
Place of subject's birth [Egypt, Turkey, Jordan, Saudi-Arabia, Pakistan, United Arab Emirates, Yemen, Qatar, India, Kuwait]
text
C0032040 (UMLS CUI [1,1])
birth place
Code List
Place of subject's birth [Egypt, Turkey, Jordan, Saudi-Arabia, Pakistan, United Arab Emirates, Yemen, Qatar, India, Kuwait]
CL Item
United Arab Emirates (UAE)
CL Item
Unknown (UNK)
Item
First-cousin marriage of parents
text
C2598510 (UMLS CUI [1,1])
C0337580 (UMLS CUI [1,2])
consanguinity
Code List
First-cousin marriage of parents
CL Item
is not consanguineous (N)
CL Item
is consanguineous (Y)
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