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ID

14733

Description

A series of self-administered questions to assess family and personal history of strabismus, including history of treatments and surgeries. ODM derived from: https://cde.nlm.nih.gov Primary source: https://www.phenxtoolkit.org/ Recent publication: Hendershot, T., Pan, H., Haines, J., Harlan, W.R., Marazita, M.L., McCarty, C.A., Ramos, E.M., and Hamilton, C.M. (2015) Using the PhenX toolkit to add standard measures to a study. Curr. Protoc. Hum. Genet. 86:1.21.1-1.21.17. doi: 10.1002/0471142905.hg0121s86 Permission to publish granted by Carol M. Hamilton.

Link

https://cde.nlm.nih.gov

Keywords

  1. 4/26/16 4/26/16 -
Uploaded on

April 26, 2016

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License

Creative Commons BY-NC 3.0

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    Personal and Family History of Strabismus Protocol PhenX Toolkit

    Personal and Family History of Strabismus Protocol PhenX Toolkit

    PhenX - personal - family history of strabismus protocol
    Description

    PhenX - personal - family history of strabismus protocol

    Alias
    UMLS CUI-1
    C3169769
    Have you ever had a crossed or wandering eye (amblyopia)?
    Description

    Have you ever had a crossed or wandering eye (amblyopia)?

    Data type

    integer

    Alias
    UMLS CUI [1]
    C0002418
    Have you ever had double vision?
    Description

    Have you ever had double vision?

    Data type

    integer

    Alias
    UMLS CUI [1]
    C0012569
    Do you ever tilt your head when looking straight?
    Description

    Do you ever tilt your head when looking straight?

    Data type

    integer

    Alias
    UMLS CUI [1]
    C3174895
    Have you ever undergone eye muscle surgery?
    Description

    Have you ever undergone eye muscle surgery?

    Data type

    integer

    Alias
    UMLS CUI [1]
    C0197937
    Have you ever worn a patch or used eye drops (atropine penalization) for eye correction?
    Description

    Have you ever worn a patch or used eye drops (atropine penalization) for eye correction?

    Data type

    integer

    Alias
    UMLS CUI [1]
    C3174899
    Have you ever worn glasses or contacts?
    Description

    Have you ever worn glasses or contacts?

    Data type

    integer

    Alias
    UMLS CUI [1]
    C3174901
    If you answered YES to any of the above questions (questions 1-6), please provide further details (i.e. age of onset of eye condition, dates of surgery, name of procedure if known, reason for glasses, etc.)
    Description

    If you answered YES to any of the above questions (questions 1-6), please provide further details (i.e. age of onset of eye condition, dates of surgery, name of procedure if known, reason for glasses, etc.)

    Data type

    text

    Alias
    UMLS CUI [1]
    C3174903
    Do you have a coloboma? (Absence or defect of ocular tissue ranging from a small pit in the optic disk to extensive defects in the iris, ciliary body, choroid, retina, or optic disk)
    Description

    Do you have a coloboma? (Absence or defect of ocular tissue ranging from a small pit in the optic disk to extensive defects in the iris, ciliary body, choroid, retina, or optic disk)

    Data type

    integer

    Alias
    UMLS CUI [1]
    C3174905
    Do you have microphthalmia? (Abnormally small eye)
    Description

    Do you have microphthalmia? (Abnormally small eye)

    Data type

    integer

    Alias
    UMLS CUI [1]
    C0026010
    Do you have epibulbar dermoid? (Eye tumors that are not recurrent or progressive)
    Description

    Do you have epibulbar dermoid? (Eye tumors that are not recurrent or progressive)

    Data type

    integer

    Alias
    UMLS CUI [1]
    C3174909
    Do you have any abnormal ocular features?
    Description

    Do you have any abnormal ocular features?

    Data type

    integer

    Alias
    UMLS CUI [1]
    C3174911
    Do you have any retinal defects?
    Description

    Do you have any retinal defects?

    Data type

    integer

    Alias
    UMLS CUI [1]
    C0154823
    Do you have any visual impairment other than previously noted?
    Description

    Do you have any visual impairment other than previously noted?

    Data type

    integer

    Alias
    UMLS CUI [1]
    C3665347
    If you answered YES to any question above (questions 8-13), please describe.
    Description

    If you answered YES to any question above (questions 8-13), please describe.

    Data type

    text

    Alias
    UMLS CUI [1]
    C3174555
    Relative
    Description

    Relative

    Relative with strabismus [PhenX]
    Description

    Relative with strabismus [PhenX]

    Data type

    integer

    Alias
    UMLS CUI [1]
    C3174557
    Treatment related to strabismus [PhenX]
    Description

    Treatment related to strabismus [PhenX]

    Data type

    integer

    Alias
    UMLS CUI [1,1]
    C0087111
    UMLS CUI [1,2]
    C0038379
    Did this relative have this strabismus treament [PhenX]
    Description

    Did this relative have this strabismus treament [PhenX]

    Data type

    integer

    Alias
    UMLS CUI [1]
    C3174559
    Other relative with strabismus [PhenX]
    Description

    Other relative with strabismus [PhenX]

    Data type

    text

    Alias
    UMLS CUI [1]
    C3174561

    Similar models

    Personal and Family History of Strabismus Protocol PhenX Toolkit

    Name
    Type
    Description | Question | Decode (Coded Value)
    Data type
    Alias
    Item Group
    PhenX - personal - family history of strabismus protocol
    C3169769 (UMLS CUI-1)
    Item
    Have you ever had a crossed or wandering eye (amblyopia)?
    integer
    C0002418 (UMLS CUI [1])
    Code List
    Have you ever had a crossed or wandering eye (amblyopia)?
    CL Item
    Yes (1)
    C1705108 (UMLS CUI-1)
    CL Item
    No (2)
    C1298908 (UMLS CUI-1)
    CL Item
    Not sure (3)
    C3844332 (UMLS CUI-1)
    Item
    Have you ever had double vision?
    integer
    C0012569 (UMLS CUI [1])
    Code List
    Have you ever had double vision?
    CL Item
    Yes (1)
    C1705108 (UMLS CUI-1)
    CL Item
    No (2)
    C1298908 (UMLS CUI-1)
    CL Item
    Not sure (3)
    C3844332 (UMLS CUI-1)
    Item
    Do you ever tilt your head when looking straight?
    integer
    C3174895 (UMLS CUI [1])
    Code List
    Do you ever tilt your head when looking straight?
    CL Item
    Yes (1)
    C1705108 (UMLS CUI-1)
    CL Item
    No (2)
    C1298908 (UMLS CUI-1)
    CL Item
    Not sure (3)
    C3844332 (UMLS CUI-1)
    Item
    Have you ever undergone eye muscle surgery?
    integer
    C0197937 (UMLS CUI [1])
    Code List
    Have you ever undergone eye muscle surgery?
    CL Item
    Yes (1)
    C1705108 (UMLS CUI-1)
    CL Item
    No (2)
    C1298908 (UMLS CUI-1)
    CL Item
    Not sure (3)
    C3844332 (UMLS CUI-1)
    Item
    Have you ever worn a patch or used eye drops (atropine penalization) for eye correction?
    integer
    C3174899 (UMLS CUI [1])
    Code List
    Have you ever worn a patch or used eye drops (atropine penalization) for eye correction?
    CL Item
    Yes (1)
    C1705108 (UMLS CUI-1)
    CL Item
    No (2)
    C1298908 (UMLS CUI-1)
    CL Item
    Not sure (3)
    C3844332 (UMLS CUI-1)
    Item
    Have you ever worn glasses or contacts?
    integer
    C3174901 (UMLS CUI [1])
    Code List
    Have you ever worn glasses or contacts?
    CL Item
    Yes (1)
    C1705108 (UMLS CUI-1)
    CL Item
    No (2)
    C1298908 (UMLS CUI-1)
    CL Item
    Not sure (3)
    C3844332 (UMLS CUI-1)
    details glasses contacts
    Item
    If you answered YES to any of the above questions (questions 1-6), please provide further details (i.e. age of onset of eye condition, dates of surgery, name of procedure if known, reason for glasses, etc.)
    text
    C3174903 (UMLS CUI [1])
    Item
    Do you have a coloboma? (Absence or defect of ocular tissue ranging from a small pit in the optic disk to extensive defects in the iris, ciliary body, choroid, retina, or optic disk)
    integer
    C3174905 (UMLS CUI [1])
    Code List
    Do you have a coloboma? (Absence or defect of ocular tissue ranging from a small pit in the optic disk to extensive defects in the iris, ciliary body, choroid, retina, or optic disk)
    CL Item
    Yes (1)
    C1705108 (UMLS CUI-1)
    CL Item
    No (2)
    C1298908 (UMLS CUI-1)
    CL Item
    Not sure (3)
    C3844332 (UMLS CUI-1)
    Item
    Do you have microphthalmia? (Abnormally small eye)
    integer
    C0026010 (UMLS CUI [1])
    Code List
    Do you have microphthalmia? (Abnormally small eye)
    CL Item
    Yes (1)
    C1705108 (UMLS CUI-1)
    CL Item
    No (2)
    C1298908 (UMLS CUI-1)
    CL Item
    Not sure (3)
    C3844332 (UMLS CUI-1)
    Item
    Do you have epibulbar dermoid? (Eye tumors that are not recurrent or progressive)
    integer
    C3174909 (UMLS CUI [1])
    Code List
    Do you have epibulbar dermoid? (Eye tumors that are not recurrent or progressive)
    CL Item
    Yes (1)
    C1705108 (UMLS CUI-1)
    CL Item
    No (2)
    C1298908 (UMLS CUI-1)
    CL Item
    Not sure (3)
    C3844332 (UMLS CUI-1)
    Item
    Do you have any abnormal ocular features?
    integer
    C3174911 (UMLS CUI [1])
    Code List
    Do you have any abnormal ocular features?
    CL Item
    Yes (1)
    C1705108 (UMLS CUI-1)
    CL Item
    No (2)
    C1298908 (UMLS CUI-1)
    CL Item
    Not sure (3)
    C3844332 (UMLS CUI-1)
    Item
    Do you have any retinal defects?
    integer
    C0154823 (UMLS CUI [1])
    Code List
    Do you have any retinal defects?
    CL Item
    Yes (1)
    C1705108 (UMLS CUI-1)
    CL Item
    No (2)
    C1298908 (UMLS CUI-1)
    CL Item
    Not sure (3)
    C3844332 (UMLS CUI-1)
    Item
    Do you have any visual impairment other than previously noted?
    integer
    C3665347 (UMLS CUI [1])
    Code List
    Do you have any visual impairment other than previously noted?
    CL Item
    Yes (1)
    C1705108 (UMLS CUI-1)
    CL Item
    No (2)
    C1298908 (UMLS CUI-1)
    CL Item
    Not sure (3)
    C3844332 (UMLS CUI-1)
    describe other visual impairment
    Item
    If you answered YES to any question above (questions 8-13), please describe.
    text
    C3174555 (UMLS CUI [1])
    Item Group
    Relative
    Item
    Relative with strabismus [PhenX]
    integer
    C3174557 (UMLS CUI [1])
    Code List
    Relative with strabismus [PhenX]
    CL Item
    Mother (1)
    C0026591 (UMLS CUI-1)
    CL Item
    Father (2)
    C0015671 (UMLS CUI-1)
    CL Item
    Sister (3)
    C0337514 (UMLS CUI-1)
    CL Item
    Brother (4)
    C0337527 (UMLS CUI-1)
    CL Item
    Daughter (5)
    C0011011 (UMLS CUI-1)
    CL Item
    Son (6)
    C0037683 (UMLS CUI-1)
    CL Item
    Maternal Grandmother  (7)
    C1273525 (UMLS CUI-1)
    CL Item
    Maternal Grandfather  (8)
    C1273523 (UMLS CUI-1)
    CL Item
    Paternal Grandmother (9)
    C1273524 (UMLS CUI-1)
    CL Item
    Paternal Grandfather (10)
    C1292533 (UMLS CUI-1)
    CL Item
    Maternal Aunt  (11)
    C3714275 (UMLS CUI-1)
    CL Item
    Maternal Uncle  (12)
    C3714277 (UMLS CUI-1)
    CL Item
    Paternal Aunt  (13)
    C3714274 (UMLS CUI-1)
    CL Item
    Paternal Uncle  (14)
    C3714276 (UMLS CUI-1)
    CL Item
    Child 1  (15)
    C3844033 (UMLS CUI-1)
    CL Item
    Sibling 1 (16)
    C3844026 (UMLS CUI-1)
    CL Item
    Adopted son or daughter  (17)
    C3844043 (UMLS CUI-1)
    CL Item
    Half sibling  (18)
    C0337505 (UMLS CUI-1)
    CL Item
    Half-sister (19)
    C0337518 (UMLS CUI-1)
    CL Item
    Stepson or stepdaughter  (20)
    C3844041 (UMLS CUI-1)
    CL Item
    Self (21)
    C0036588 (UMLS CUI-1)
    Item
    Treatment related to strabismus [PhenX]
    integer
    C0087111 (UMLS CUI [1,1])
    C0038379 (UMLS CUI [1,2])
    Code List
    Treatment related to strabismus [PhenX]
    CL Item
    Glasses before age 6  (1)
    C3843266 (UMLS CUI-1)
    CL Item
    Patching  (2)
    C0776981 (UMLS CUI-1)
    CL Item
    Eye muscle surgery (3)
    C0197937 (UMLS CUI-1)
    Item
    Did this relative have this strabismus treament [PhenX]
    integer
    C3174559 (UMLS CUI [1])
    Code List
    Did this relative have this strabismus treament [PhenX]
    CL Item
    Yes (1)
    C1705108 (UMLS CUI-1)
    CL Item
    No (2)
    C1298908 (UMLS CUI-1)
    CL Item
    Not sure (3)
    C3844332 (UMLS CUI-1)
    other relative with strabismus
    Item
    Other relative with strabismus [PhenX]
    text
    C3174561 (UMLS CUI [1])

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