|
subjectkey |
GUID |
|
Required |
The NDAR Global Unique Identifier (GUID) for research subject |
NDAR*
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src_subject_id |
String |
20
|
Required |
Subject ID how it's defined in lab/project |
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interview_age |
Integer |
|
Required |
Age in months at the time of the interview/test/sampling/imaging. |
0 :: 1260
|
Age is rounded to chronological month. If the research participant is 15-days-old at time of interview, the appropriate value would be 0 months. If the participant is 16-days-old, the value would be 1 month.
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interview_date |
Date |
|
Required |
Date on which the interview/genetic test/sampling/imaging/biospecimen was completed. MM/DD/YYYY |
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sex |
String |
20
|
Required |
Sex of subject at birth |
M;F; O; NR
|
M = Male; F = Female; O=Other; NR = Not reported
|
gender |
Query
|
skin_abnorm |
String |
10
|
Recommended |
Any other skin abnormalities? |
Yes;No;NK
|
NK = Not known
|
anyotherskinabnormalities |
|
skin_abnorm_spec |
String |
700
|
Recommended |
Any other skin abnormalities If yes specify |
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|
anyotherskinabnormalitiesifyes |
Query
|
cran_nerv |
String |
10
|
Recommended |
Are the cranial nerves normal (do face, tongue and palate move normally)? |
Yes;No;NK
|
NK = Not known
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arecranialnervesnormal |
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cran_nerv_spec |
String |
200
|
Recommended |
Are the cranial nerves normal If no specify |
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arecranialnervesnormalifnospec |
Query
|
ref_abnorm |
String |
15
|
Recommended |
Are reflexes DTR abnormal |
Yes; No; Unknown
|
|
arereflexesabnormal |
Query
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ref_abnorm_leftarm |
String |
25
|
Recommended |
Are reflexes DTR abnormal Left Arm |
Increased w/ Clonus; Increased w/o Clonus; Hypoactive; Absent; Not applicable
|
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arereflexesabnormalleftarm |
Query
|
ref_abnorm_leftleg |
String |
25
|
Recommended |
Are reflexes DTR abnormal Left Leg |
Increased w/ Clonus; Increased w/o Clonus; Hypoactive; Absent; Not applicable
|
|
arereflexesabnormalleftleg |
Query
|
ref_abnorm_rightarm |
String |
25
|
Recommended |
Are reflexes DTR abnormal Right Arm |
Increased w/ Clonus; Increased w/o Clonus; Hypoactive; Absent; Not applicable
|
|
arereflexesabnormalrightarm |
Query
|
ref_abnorm_rightleg |
String |
25
|
Recommended |
Are reflexes DTR abnormal Right Leg |
Increased w/ Clonus; Increased w/o Clonus; Hypoactive; Absent; Not applicable
|
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arereflexesabnormalrightleg |
Query
|
eye_mov |
String |
10
|
Recommended |
Are the eye movements full and symmetric? |
Yes;No;NK
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aretheeyemovementsfullandsymme |
Query
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teeth_abnormal |
String |
15
|
Recommended |
Are there abnormalities of the teeth |
Yes; No; Unknown
|
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arethereabnormalitiesteeth |
Query
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teeth_abnormal_op |
String |
100
|
Recommended |
Abnormalities of the teeth |
Gingival fibromas; Dental pits; Malocclusion; Other
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arethereabnormalitie_dentalpits |
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teeth_abnormal_otr |
String |
200
|
Recommended |
Are there abnormalities of the teeth If yes what are they Check all that apply If Other specify |
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arethereabnormalitiesteethifye2 |
Query
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limb_abnor |
String |
10
|
Recommended |
Are there any digital abnormalities (extra or missing fingers or toes)? |
Yes;No;NK
|
NK = Not known
|
arethereanydigitalabnormalitie |
Query
|
limb_abnor_det |
Integer |
|
Recommended |
If yes, what findings? |
1::5
|
1 = Extra fingers; 2 = Missing fingers; 3= Extra toes; 4 = Missing toes; 5 = Fused digits
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arethereanydigitalab_extrafinger |
Query
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neuro_involunmove |
String |
50
|
Recommended |
Are there any involuntary movements? |
Yes;No;NK
|
NK = Not known
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arethereinvoluntarymovements |
|
neuro_involunmovedesc |
String |
255
|
Recommended |
Involuntary Movement - Describe |
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|
arethereinvoluntarymovementsif |
Query
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limb_joint_loos |
String |
10
|
Recommended |
Are joints excessively loose? |
Yes;No;NK
|
NK = Not known
|
aretherejointcontractures |
Query
|
medprob_ear |
String |
50
|
Recommended |
Ears: Is there any known abnormality in this area? |
No;Yes;NK
|
NK = Not known
|
doearsappearabnormal |
|
rev_earabdesc |
String |
255
|
Recommended |
Ext. Ear Abnormalities: Abnormalities |
|
|
doearsappearabnormalifyeshowth2 |
Query
|
ear_ab_type |
String |
100
|
Recommended |
If yes, how do they appear? |
Cupped; Prominent; Lowset; Tags
|
|
doearsappearabnormal_cupped |
Query
|
jaw_ab |
String |
10
|
Recommended |
Does the jaw appear abnormal? |
Yes;No;NK
|
NK = Not known
|
doesjawappearabnormal |
|
jaw_ab_otr |
String |
255
|
Recommended |
Does the jaw appear abnormal specify |
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|
ifyesanycorrectionifyeswhatkin2 |
Query
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eye_correct |
Integer |
|
Recommended |
If yes, is there any correction/what kind? |
1::3
|
1=Glasses or Corrective lens; 2=Surgery; 3=Both
|
ifyesanycorrectionif_glasses |
Query
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ishearingabnormal |
String |
15
|
Recommended |
Is hearing abnormal |
Yes; No; Unknown
|
|
|
Query
|
muscle_streng |
String |
10
|
Recommended |
Is muscle strength abnormal? |
Yes;No;NK
|
NK = Not known
|
ismusclestrengthabnormal |
Query
|
muscle_streng_det |
Integer |
|
Recommended |
If yes, what findings |
1::3
|
1 = Generalized weakness; 2 = Focal weakness; 3 = Both
|
ismusclestrengthabno_focalweakne |
Query
|
neck_webbed |
String |
50
|
Recommended |
Is the neck short and/or webbed? |
Yes;No;NK
|
NK = Not known
|
isneckshortwebbed |
Query
|
sens_exam |
String |
10
|
Recommended |
Is sensory exam normal? |
Yes;No;NK
|
NK = Not known
|
issensoryexamabnormal |
|
sens_exam_spec |
String |
255
|
Recommended |
Sensory exam specified |
|
|
issensoryexamabnormalifyes |
Query
|
genit_exam |
String |
10
|
Recommended |
Is the genital exam abnormal? |
Yes;No;NK
|
NK = Not known
|
isthegenitalexamabnormal |
Query
|
genit_exam_spec |
Integer |
|
Recommended |
If yes, what findings? |
1::6
|
1 = Hypospadias; 2 = Cryptorchidism; 3 = Enlarged testicles; 4 = Micropenis; 5 = Hypoplastic labia; 6=other
|
isthegenitalexamabno_cryptorchid |
|
genit_exam_spec_otr |
String |
50
|
Recommended |
Is the genital exam abnormal specify |
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|
|
Query
|
head_shape |
String |
50
|
Recommended |
Abnormal head shape |
Yes;No;NE;_BLANK_
|
NE = Not examined
|
isthereabnormalheadshape |
|
head_desc |
String |
255
|
Recommended |
Abnormal Head Shape - Describe |
|
|
isthereabnormalheadshapeifyess |
Query
|
iris_ab_any |
String |
15
|
Recommended |
Is there any abnormality of the iris |
Yes; No; Unknown
|
|
isthereanyabnormalityoftheiris |
Query
|
eyes_irispattern |
String |
100
|
Recommended |
Iris Patterning |
Brushfield Spots;Coloboma;Lisch Nodules;Fine/Porous;Heterochromasia;Stellate;Pale Blue;None;NE
|
NE = Not examined
|
isthereanyabnormalit_brushfields |
|
iris_ab_other |
String |
255
|
Recommended |
Is there any abnormality of the iris Other |
|
|
irisabnormalother |
Query
|
eye_retinal_ab |
String |
100
|
Recommended |
Retinal Abnormality |
Retinal Hamartoma; Retinal Achromic Patch; Other
|
|
isthereanyabnormalit_othe2 |
Query
|
retina_abnor |
String |
15
|
Recommended |
Is there any abnormality of the retinafundoscopy |
Yes; No; Unknown
|
|
isthereanyabnormalityofretina |
|
retina_abnor_spec |
String |
50
|
Recommended |
Is there any abnormality of the retinafundoscopy other spec |
|
|
isthereanyabnormalityofretinai2 |
Query
|
hypotonia |
Integer |
|
Recommended |
Does (did) the Child have Hypotonia (low muscle tone)? |
0;1;2
|
0 = No; 1 = Yes; 2 = Not known
|
isthereanyevidencehypotonia |
|
hypotonia_append |
String |
100
|
Recommended |
Is there any evidence of hypotonia low muscle tone Appendicular specify |
|
|
isthereanyevidencehypotoniaapp |
|
hypotonia_axial |
String |
50
|
Recommended |
Is there any evidence of hypotonia low muscle tone Axial specify |
|
|
isthereanyevidencehypotoniaaxi |
Query
|
hypertonia |
Integer |
|
Recommended |
Does (did) the Child have Hypertonia (tight muscle tone)? |
0;1;2
|
0 = No; 1 = Yes; 2 = Not known
|
isthereanyevidencehypertonia |
|
hypertonia_append |
String |
50
|
Recommended |
Is there any evidence of hypertonia increased muscle tone Appendicular specify |
|
|
isthereanyevidencehypertoniaap |
|
hypertonia_axial |
String |
50
|
Recommended |
Is there any evidence of hypertonia increased muscle tone Axial specify |
|
|
isthereanyevidencehypertoniaax |
Query
|
abdomen_hepatom |
String |
50
|
Recommended |
Is there evidence of hepato(spleno)megaly (large liver or spleen)? |
Yes;No;NK
|
NK = Not known
|
isthereevidencehepatosplenomeg |
|
abdomen_hepatom_spec |
String |
50
|
Recommended |
Is there evidence of hepatosplenomegaly large liver or spleen Other specify |
|
|
isthereevidencehepatosplenomeg2 |
Query
|
gait_atax |
String |
10
|
Recommended |
Is there evidence of poor coordination or gait ataxia (difficulty walking straight)? |
Yes;No;NK
|
NK = Not known
|
isthereevidenceofpoorcoordinat |
Query
|
gait_atax_spec |
String |
100
|
Recommended |
Evidence of poor coordination or gait type |
Apraxic Gait; Hemiparetic Gait-Left Side; Diplegic Gait; Hemiparetic Gait-Right Side; Parkinsonian Gait; Ataxic Gait; Other
|
|
isthereevidenceofpoo_apraxicgait |
|
gait_atax_spec_otr |
String |
100
|
Recommended |
Is there evidence of poor coordination or gait ataxia difficulty walking straight If yes specify Check all that apply If Other specify |
|
|
isthereevidenceofpoorcoordinat3 |
Query
|
head_faciala |
String |
50
|
Recommended |
Facial Asymmetry |
Yes;No;NK
|
NK = Not known
|
istherefacialasymmetry |
Query
|
head_faciala_cor |
String |
15
|
Recommended |
Is there any facial asymmetry If yes is there any correction |
Yes; No
|
|
istherefacialasymmetryifyesany |
Query
|
cardio_murmur |
String |
50
|
Recommended |
Is there a heart murmur or abnormal heart examination? |
Yes;No;NK
|
NK = Not known
|
isthereheartmurmur |
|
dysm_heart_murm_desc |
String |
50
|
Recommended |
Heart - Murmur - Comments |
|
|
abnormalheartspecify |
Query
|
eyes_nystagmus |
String |
50
|
Recommended |
Nystagmus |
Yes;No;NK
|
NK = Not known
|
istherenystagmus |
Query
|
neck_pect |
String |
10
|
Recommended |
Is there a pectus deformity (breastbone scooped in or prominent)? |
Yes;No;NK
|
NK = Not known
|
istherepectusdeformity |
Query
|
eyes_ptosis |
String |
50
|
Recommended |
Ptosis |
Yes;No;NK
|
NK = Not known
|
isthereptosis |
Query
|
neck_scoliosis |
String |
50
|
Recommended |
Is there scoliosis (curvature of the spine)? |
Yes;No;NK
|
NK = Not known
|
istherescoliosis |
|
eyes_strabismus |
String |
50
|
Recommended |
Strabismus |
|
Yes; No; NK (not known/not examined)
|
istherestrabismus |
Query
|
isvisionabnormal |
String |
15
|
Recommended |
Is vision abnormal |
Yes; No; Unknown
|
|
|
Query
|
isbalancenormal |
String |
15
|
Recommended |
Is balance normal |
Yes; No; Unknown
|
|
|
Query
|
isbalancenormalyes |
String |
25
|
Recommended |
Is balance normal If yes |
Cerebellar signs; Long track signs
|
|
|
Query
|
leftplantarresponse |
String |
25
|
Recommended |
Are reflexes DTR abnormal Left Plantar Response |
Flexor; Extensor; Equivocal; Other
|
|
|
|
leftplantarresponseother |
String |
50
|
Recommended |
Left Plantar Response Other specify |
|
|
|
|
pectusdeformityspecify |
String |
50
|
Recommended |
Is there a pectus deformity breastbone scooped in or prominent If yes specify |
|
|
|
Query
|
rightplantarresponse |
String |
25
|
Recommended |
Are reflexes DTR abnormal Right Plantar Response |
Flexor; Extensor; Equivocal; Other
|
|
|
|
rightplantarresponseother |
String |
50
|
Recommended |
Right Plantar Response Other specify |
|
|
|
Query
|
muscallesions |
String |
3
|
Recommended |
Are there any oral mucosal lesions |
Yes; No; NK
|
|
|
|
muscallesionsyesother |
String |
100
|
Recommended |
Are there any oral mucosal lesions, specify |
|
|
|
Query
|
muscallesionsyes_other |
Integer |
|
Recommended |
Mucosal lesions Yes: Other |
0;1
|
0=unchecked box; 1=checked box
|
|
Query
|
muscallesionsyes_papillomas |
Integer |
|
Recommended |
Mucosal lesions Yes: Papillomas |
0;1
|
0=unchecked box; 1=checked box
|
|
Query
|
muscallesionsyes_scrotaltongue |
Integer |
|
Recommended |
Mucosal lesions Yes: Scrotal tongue |
0;1
|
0=unchecked box; 1=checked box
|
|