Inglés

The Dataset provides information about affection status (congenital cranial dysinnervation disorder) and basic sociodemographic information.

7 formularios  
pht008300
Descripción

pht008300

Alias
UMLS CUI [1,1]
C0011298
UMLS CUI [1,2]
C5671326
De-identified Subject ID
Descripción

SUBJECT_ID

Tipo de datos

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C2348585
Gender of participant
Descripción

SEX

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0079399
Race of participant
Descripción

Race

Tipo de datos

string

Alias
UMLS CUI [1,1]
C0034510
Ethnicity of participant
Descripción

Ethnicity

Tipo de datos

string

Alias
UMLS CUI [1,1]
C5441552
CCDD diagnosis type for pedigree
Descripción

Diagnosis

Tipo de datos

text

Alias
UMLS CUI [1,1]
C1550351
UMLS CUI [1,2]
C5671326
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Similar models

The Dataset provides information about affection status (congenital cranial dysinnervation disorder) and basic sociodemographic information.

7 formularios
Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
Alias
Item Group
pht008300
C0011298 (UMLS CUI [1,1])
C5671326 (UMLS CUI [1,2])
SUBJECT_ID
Item
De-identified Subject ID
string
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
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])
Item
Race of participant
string
C0034510 (UMLS CUI [1,1])
Race
Code List
Race of participant
CL Item
Asian (Asian)
C0078988 (UMLS CUI [1,1])
CL Item
Black/African American (Black/African American)
C0085756 (UMLS CUI [1,1])
CL Item
More than One Race (More than One Race)
C0205430 (UMLS CUI [1,1])
C0034510 (UMLS CUI [1,2])
CL Item
Unknown (Unknown)
C0439673 (UMLS CUI [1,1])
CL Item
White (White)
C0043157 (UMLS CUI [1,1])
Item
Ethnicity of participant
string
C5441552 (UMLS CUI [1,1])
Ethnicity
Code List
Ethnicity of participant
CL Item
Hispanic or Latino (Hispanic or Latino)
C0086409 (UMLS CUI [1,1])
C0086528 (UMLS CUI [2,1])
CL Item
Non Hispanic or Latino (Non Hispanic or Latino)
C1518424 (UMLS CUI [1,1])
CL Item
Unknown (Unknown)
C0439673 (UMLS CUI [1,1])
Item
CCDD diagnosis type for pedigree
text
C1550351 (UMLS CUI [1,1])
C5671326 (UMLS CUI [1,2])
Diagnosis
Code List
CCDD diagnosis type for pedigree
CL Item
Congenital Fibrosis of Extraocular Muscles (CFEOM)
C1302995 (UMLS CUI [1,1])
CL Item
Congenital Facial Palsy (CFP)
C0393791 (UMLS CUI [1,1])
CL Item
Duane Retraction Syndrome-Horizontal Gaze Palsy (DRS-HGP)
C0013261 (UMLS CUI [1,1])
C0339651 (UMLS CUI [1,2])
CL Item
Moebius Syndrome (Moebius)
C0221060 (UMLS CUI [1,1])
CL Item
Ptosis - drooping eyelids (Ptosis)
C0033377 (UMLS CUI [1,1])
C0423131 (UMLS CUI [2,1])
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