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congenital anomaly of cardiovascular system

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disorder of development or morphogenesis

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congenital mitral valve insufficiency and/or stenosis

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Peripheral Blood Mononuclear Cell Sample

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Abnormality of the cardiovascular system

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Abnormality of the musculoskeletal system

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Abnormality of the upper respiratory tract

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Abnormal morphology of the great vessels

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Abnormal posterior eye segment morphology

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Abnormal peripheral nervous system morphology

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ValueSet for values associated with targets codes in data harmonization from study, X01-Hakonarson.

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Peripheral blood blast percentage at birth

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Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].code
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].display
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].code
In the past 12 months, how many times has the participant been admitted to a hospital overnight or longer?

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In the past 12 months, how many times has the participant been admitted to a hospital overnight or longer?

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Condition was observed or reported (this will be the case for most conditions)

# entry[].resource.compose.include[].concept[].code
Native Hawaiian or Other Pacific Islander

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Native Hawaiian or Other Pacific Islander

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Abnormality of the musculoskeletal system

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Abnormality of the musculoskeletal system

# entry[].resource.compose.include[].concept[].code
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Acute upper respiratory infections of unspecified site

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Recurrent upper respiratory tract infections

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Cardiac murmurs not elsewhere classified

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Other specified diseases of hair and hair follicles

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Abnormality of the cardiovascular system

# entry[].resource.compose.include[].concept[].code
Anomalies of respiratory system, congenital

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Abnormality of the upper respiratory tract

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Abnormality of the vestibulocochlear nerve

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Other specified diseases of sebaceous glands

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Abnormal morphology of the great vessels

# entry[].resource.compose.include[].concept[].code
Congenital anomalies of lower limb, including pelvic girdle

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Abnormality of the cardiovascular system

# entry[].resource.compose.include[].concept[].code
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Abnormal posterior eye segment morphology

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Purpura and other hemorrhagic conditions

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Tympanosclerosis and middle ear disease related to otitis media

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Abnormality of the gastrointestinal tract

# entry[].resource.compose.include[].concept[].code
Nystagmus and other irregular eye movements

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# entry[].resource.compose.include[].concept[].code
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Abnormal male reproductive system physiology

# entry[].resource.compose.include[].concept[].code
Tooth complications likely association with other diseases

# entry[].resource.compose.include[].concept[].code
Intestinal infection due to C. difficile

# entry[].resource.compose.include[].concept[].display
Abnormal electrophysiology of sinoatrial node origin

# entry[].resource.compose.include[].concept[].code
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# entry[].resource.compose.include[].concept[].code
Arthropathy NOS involving multiple sites

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Intestinal obstruction without mention of hernia

# entry[].resource.compose.include[].concept[].code
Other respiratory conditions of fetus and newborn

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Cardiac complications, not elsewhere classified

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Abnormality of the cardiovascular system

# entry[].resource.compose.include[].concept[].code
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Paralysis/spasm of vocal cords or larynx

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Noninfectious disorders of lymphatic channels

# entry[].resource.compose.include[].concept[].code
Abnormal results of function study of liver

# entry[].resource.compose.include[].concept[].code
Common migraine without mention of intractable migraine

# entry[].resource.compose.include[].concept[].code
Hereditary disturbances in tooth structure

# entry[].resource.compose.include[].concept[].code
Cellulitis and abscess of oral soft tissues

# entry[].resource.compose.include[].concept[].code
Cellulitis and abscess of oral soft tissues

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Abnormal peripheral nervous system morphology

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Pneumonitis due to inhalation of food or vomitus

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Suppurative and unspecified otitis media

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Symptoms involving nervous and musculoskeletal systems

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Cardiac and circulatory congenital anomalies

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congenital anomaly of cardiovascular system

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Disorders of refraction and accommodation

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# entry[].resource.compose.include[].concept[].code
Disorders of muscle, ligament, and fascia

# entry[].resource.compose.include[].concept[].code
Other local infections of skin and subcutaneous tissue

# entry[].resource.compose.include[].concept[].code
Unspecified local infection of skin and subcutaneous tissue

# entry[].resource.compose.include[].concept[].code
Disorders of optic nerve and visual pathways

# entry[].resource.compose.include[].concept[].code
Neurological disorders due to brain damage

# entry[].resource.compose.include[].concept[].code
Other specified diseases of hair and hair follicles

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disorder of development or morphogenesis

# entry[].resource.compose.include[].concept[].code
Other disorders of arteries and arterioles

# entry[].resource.compose.include[].concept[].code
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# entry[].resource.compose.include[].concept[].code
Other specified congenital anomalies of nervous system

# entry[].resource.compose.include[].concept[].code
Other specified diseases of sebaceous glands

# entry[].resource.compose.include[].concept[].code
Other disorders of middle ear and mastoid

# entry[].resource.compose.include[].concept[].code
Congenital anomalies of posterior segment of eye

# entry[].resource.compose.include[].concept[].code
Purpura and other hemorrhagic conditions

# entry[].resource.compose.include[].concept[].code
Tympanosclerosis and middle ear disease related to otitis media

# entry[].resource.compose.include[].concept[].code
Chronic rheumatic disease of the heart valves

# entry[].resource.compose.include[].concept[].code
Nystagmus and other irregular eye movements

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Schizophrenia and other psychotic disorders

# entry[].resource.compose.include[].concept[].code
Other inflammatory disorders of male genital organs

# entry[].resource.compose.include[].concept[].code
Tooth complications likely association with other diseases

# entry[].resource.compose.include[].concept[].code
Intestinal infection due to C. difficile

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Congenital anomalies of peripheral vascular system

# entry[].resource.compose.include[].concept[].code
Arthropathy NOS involving multiple sites

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Acute, but ill-defined cerebrovascular disease

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Intestinal obstruction without mention of hernia

# entry[].resource.compose.include[].concept[].code
Other respiratory conditions of fetus and newborn

# entry[].resource.compose.include[].concept[].display
congenital mitral valve insufficiency and/or stenosis

# entry[].resource.compose.include[].concept[].code
Persistent mental disorders due to other conditions

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Delirium dementia and amnestic disorders

# entry[].resource.compose.include[].concept[].code
Paralysis/spasm of vocal cords or larynx

# entry[].resource.compose.include[].concept[].code
Noninfectious disorders of lymphatic channels

# entry[].resource.compose.include[].concept[].code
Common migraine without mention of intractable migraine

# entry[].resource.compose.include[].concept[].code
Hereditary disturbances in tooth structure

# entry[].resource.compose.include[].concept[].code
Cellulitis and abscess of oral soft tissues

# entry[].resource.compose.include[].concept[].code
Cellulitis and abscess of oral soft tissues

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ValueSet for values associated with sources codes in data harmonization from study, X01-Hakonarson.

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ValueSet for all values associated with variable, file_manifest.File Format, from INCLUDE datasets.

# entry[].resource.title
ValueSet for all values associated with variable, file_manifest.Experimental Strategy, from INCLUDE datasets.

# entry[].resource.title
ValueSet for all values associated with variable, file_manifest.Data Type, from INCLUDE datasets.

# entry[].resource.title
ValueSet for all values associated with variable, file_manifest.Data Category, from INCLUDE datasets.

# entry[].resource.title
ValueSet for all values associated with variable, file_manifest.Data Access, from INCLUDE datasets.

# entry[].resource.title
ValueSet for all variables associated with table, file_manifest, from INCLUDE datasets.

# entry[].resource.title
ValueSet for all values associated with variable, specimen.Volume Unit, from INCLUDE datasets.

# entry[].resource.title
ValueSet for all values associated with variable, specimen.Concentration_Unit, from INCLUDE datasets.

# entry[].resource.title
ValueSet for all values associated with variable, specimen.Biospecimen Storage, from INCLUDE datasets.

# entry[].resource.title
ValueSet for all values associated with variable, specimen.In/Out, from INCLUDE datasets.

# entry[].resource.title
ValueSet for all values associated with variable, specimen.Parent Sample Type, from INCLUDE datasets.

# entry[].resource.title
ValueSet for all values associated with variable, specimen.Container Availability, from INCLUDE datasets.

# entry[].resource.title
ValueSet for all values associated with variable, specimen.Collection Sample Type, from INCLUDE datasets.

# entry[].resource.title
ValueSet for all values associated with variable, specimen.Sample Availability, from INCLUDE datasets.

# entry[].resource.title
ValueSet for all values associated with variable, specimen.Sample Type, from INCLUDE datasets.

# entry[].resource.title
ValueSet for all variables associated with table, specimen, from INCLUDE datasets.

# entry[].resource.title
ValueSet for all values associated with variable, condition.Condition Data Source, from INCLUDE datasets.

# entry[].resource.title
ValueSet for all values associated with variable, condition.Condition Status, from INCLUDE datasets.

# entry[].resource.title
ValueSet for all values associated with variable, condition.Condition Interpretation, from INCLUDE datasets.

# entry[].resource.title
ValueSet for all variables associated with table, condition, from INCLUDE datasets.

# entry[].resource.title
ValueSet for all values associated with variable, participant.Outcomes Vital Status, from INCLUDE datasets.

# entry[].resource.title
ValueSet for all values associated with variable, participant.Down Syndrome Status, from INCLUDE datasets.

# entry[].resource.title
ValueSet for all values associated with variable, participant.Ethnicity, from INCLUDE datasets.

# entry[].resource.title
ValueSet for all values associated with variable, participant.Race, from INCLUDE datasets.

# entry[].resource.title
ValueSet for all values associated with variable, participant.Sex, from INCLUDE datasets.

# entry[].resource.title
ValueSet for all values associated with variable, participant.Family Relationship, from INCLUDE datasets.

# entry[].resource.title
ValueSet for all values associated with variable, participant.Family Type, from INCLUDE datasets.

# entry[].resource.title
ValueSet for all variables associated with table, participant, from INCLUDE datasets.

# entry[].resource.title
ValueSet for all variables associated with table, DataSet, from INCLUDE datasets.

# entry[].resource.compose.include[].concept[].display
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].display
In the past 12 months, how many times has the participant been admitted to a hospital overnight or longer?

# entry[].resource.compose.include[].concept[].display
Native Hawaiian or Other Pacific Islander

# entry[].resource.compose.include[].concept[].display
Peripheral Blood Mononuclear Cell Sample

# entry[].resource.title
ValueSet for values associated with targets codes in data harmonization from study, X01-deSmith.

# entry[].resource.compose.include[].concept[].code
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].display
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].code
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].display
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].code
In the past 12 months, how many times has the participant been admitted to a hospital overnight or longer?

# entry[].resource.compose.include[].concept[].display
In the past 12 months, how many times has the participant been admitted to a hospital overnight or longer?

# entry[].resource.compose.include[].concept[].display
Condition was observed or reported (this will be the case for most conditions)

# entry[].resource.compose.include[].concept[].code
Native Hawaiian or Other Pacific Islander

# entry[].resource.compose.include[].concept[].display
Native Hawaiian or Other Pacific Islander

# entry[].resource.compose.include[].concept[].code
Transient abnormal myelopoiesis, blasts >10%

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Oesophageal atresia + Hirschsprung's disease

# entry[].resource.compose.include[].concept[].code
Oesophageal atresia + Hirschsprung's disease

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Oesophageal atresia + Tetralogy of Fallot

# entry[].resource.compose.include[].concept[].code
Oesophageal atresia + Tetralogy of Fallot

# entry[].resource.compose.include[].concept[].code
Transient abnormal myelopoiesis, blasts >10%

# entry[].resource.compose.include[].concept[].code
Oesophageal atresia + Hirschsprung's disease

# entry[].resource.compose.include[].concept[].code
Oesophageal atresia + Hirschsprung's disease

# entry[].resource.compose.include[].concept[].code
Oesophageal atresia + Tetralogy of Fallot

# entry[].resource.compose.include[].concept[].code
Oesophageal atresia + Tetralogy of Fallot

# entry[].resource.title
ValueSet for values associated with sources codes in data harmonization from study, X01-deSmith.

# entry[].resource.compose.include[].concept[].display
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].display
In the past 12 months, how many times has the participant been admitted to a hospital overnight or longer?

# entry[].resource.compose.include[].concept[].display
Native Hawaiian or Other Pacific Islander

# entry[].resource.compose.include[].concept[].display
precursor B-cell acute lymphoblastic leukemia

# entry[].resource.compose.include[].concept[].display
isolated congenital growth hormone deficiency

# entry[].resource.compose.include[].concept[].display
congenital pulmonary venous return anomaly

# entry[].resource.compose.include[].concept[].display
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# entry[].resource.compose.include[].concept[].display
Seizure precipitated by febrile infection

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# entry[].resource.compose.include[].concept[].display
myringotomy and insertion of tympanic ventilation tube

# entry[].resource.title
ValueSet for values associated with targets codes in data harmonization from study, HTP.

# entry[].resource.compose.include[].concept[].code
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].display
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].code
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].display
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].code
In the past 12 months, how many times has the participant been admitted to a hospital overnight or longer?

# entry[].resource.compose.include[].concept[].display
In the past 12 months, how many times has the participant been admitted to a hospital overnight or longer?

# entry[].resource.compose.include[].concept[].display
Condition was observed or reported (this will be the case for most conditions)

# entry[].resource.compose.include[].concept[].code
Native Hawaiian or Other Pacific Islander

# entry[].resource.compose.include[].concept[].display
Native Hawaiian or Other Pacific Islander

# entry[].resource.compose.include[].concept[].code
Acute lymphocytic leukemia (B-cell Precursor ALL)

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precursor B-cell acute lymphoblastic leukemia

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Acute lymphocytic leukemia (Unspecified ALL)

# entry[].resource.compose.include[].concept[].code
Partial Trisomy 21 (only a part of chromosome 21 is present in 3 copies)

# entry[].resource.compose.include[].concept[].code
Learning disorder not otherwise specified

# entry[].resource.compose.include[].concept[].display
isolated congenital growth hormone deficiency

# entry[].resource.compose.include[].concept[].display
congenital pulmonary venous return anomaly

# entry[].resource.compose.include[].concept[].code
Cognitive disorder not otherwise specified

# entry[].resource.compose.include[].concept[].display
Abnormality of the gastrointestinal tract

# entry[].resource.compose.include[].concept[].display
Seizure precipitated by febrile infection

# entry[].resource.compose.include[].concept[].code
Acute lymphocytic leukemia (B-cell Precursor ALL)

# entry[].resource.compose.include[].concept[].code
Acute lymphocytic leukemia (Unspecified ALL)

# entry[].resource.compose.include[].concept[].display
Recurrent infections in infancy and early childhood

# entry[].resource.compose.include[].concept[].code
Learning disorder not otherwise specified

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Decreased response to growth hormone stimulation test

# entry[].resource.compose.include[].concept[].code
Cognitive disorder not otherwise specified

# entry[].resource.compose.include[].concept[].display
myringotomy and insertion of tympanic ventilation tube

# entry[].resource.title
ValueSet for values associated with sources codes in data harmonization from study, HTP.

# entry[].resource.compose.include[].concept[].display
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].display
In the past 12 months, how many times has the participant been admitted to a hospital overnight or longer?

# entry[].resource.compose.include[].concept[].display
Native Hawaiian or Other Pacific Islander

# entry[].resource.compose.include[].concept[].display
Peripheral Blood Mononuclear Cell Sample

# entry[].resource.title
ValueSet for values associated with targets codes in data harmonization from study, DS-Sleep.

# entry[].resource.compose.include[].concept[].code
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].display
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].code
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].display
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].code
In the past 12 months, how many times has the participant been admitted to a hospital overnight or longer?

# entry[].resource.compose.include[].concept[].display
In the past 12 months, how many times has the participant been admitted to a hospital overnight or longer?

# entry[].resource.compose.include[].concept[].display
Condition was observed or reported (this will be the case for most conditions)

# entry[].resource.compose.include[].concept[].code
Native Hawaiian or Other Pacific Islander

# entry[].resource.compose.include[].concept[].display
Native Hawaiian or Other Pacific Islander

# entry[].resource.title
ValueSet for values associated with sources codes in data harmonization from study, DS-Sleep.

# entry[].resource.compose.include[].concept[].display
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].display
In the past 12 months, how many times has the participant been admitted to a hospital overnight or longer?

# entry[].resource.compose.include[].concept[].display
Native Hawaiian or Other Pacific Islander

# entry[].resource.compose.include[].concept[].display
isolated congenital growth hormone deficiency

# entry[].resource.compose.include[].concept[].display
Peripheral Blood Mononuclear Cell Sample

# entry[].resource.compose.include[].concept[].display
Decreased response to growth hormone stimulation test

# entry[].resource.compose.include[].concept[].display
Abnormality of the gastrointestinal tract

# entry[].resource.compose.include[].concept[].display
myringotomy and insertion of tympanic ventilation tube

# entry[].resource.title
ValueSet for values associated with targets codes in data harmonization from study, DSC.

# entry[].resource.compose.include[].concept[].code
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].display
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].code
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].display
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].code
In the past 12 months, how many times has the participant been admitted to a hospital overnight or longer?

# entry[].resource.compose.include[].concept[].display
In the past 12 months, how many times has the participant been admitted to a hospital overnight or longer?

# entry[].resource.compose.include[].concept[].display
Condition was observed or reported (this will be the case for most conditions)

# entry[].resource.compose.include[].concept[].code
Native Hawaiian or Other Pacific Islander

# entry[].resource.compose.include[].concept[].display
Native Hawaiian or Other Pacific Islander

# entry[].resource.compose.include[].concept[].code
Has the participant ever been diagnosed with diabetes? - Yes

# entry[].resource.compose.include[].concept[].code
Language delay: difficulty understanding what others are saying as well as those of the same age

# entry[].resource.compose.include[].concept[].code
Speech delay: difficulty speaking as clearly as those of the same age

# entry[].resource.compose.include[].concept[].code
Mixed receptive and expressive language impairment

# entry[].resource.compose.include[].concept[].code
Verbal apraxia/dyspraxia (difficulty saying what he/she intends correctly and consistently)

# entry[].resource.compose.include[].concept[].code
Folliculitis (red rash where the hair comes out of the skin)

# entry[].resource.compose.include[].concept[].code
Other eye or vision condition(s) diagnosed

# entry[].resource.compose.include[].concept[].code
Has the participant ever been diagnosed with any form of seizures or epilepsy? - Yes

# entry[].resource.compose.include[].concept[].code
Transient hearing loss (hearing loss went away)

# entry[].resource.compose.include[].concept[].code
Attention Deficit Disorder (ADD) or Attention Deficit Hyperactivity Disorder (ADHD)

# entry[].resource.compose.include[].concept[].code
Visual processing deficits (difficulty seeing differences between colors, shapes, patterns)

# entry[].resource.compose.include[].concept[].code
Auditory processing disorder (difficulty recognizing and interpreting sounds)

# entry[].resource.compose.include[].concept[].code
Has participant ever been diagnosed with celiac disease (gluten or wheat intolerance)? - Yes

# entry[].resource.compose.include[].concept[].code
Lacrimal duct stenosis (blockage of tear duct)

# entry[].resource.compose.include[].concept[].code
Alopecia areata (loss of hair on scalp at a young age)

# entry[].resource.compose.include[].concept[].code
Sensorineural hearing loss (permanent nerve hearing loss)

# entry[].resource.compose.include[].concept[].code
Autism or Autism Spectrum Disorder (ASD)

# entry[].resource.compose.include[].concept[].code
Other metabolic, hormonal, or autoimmune condition(s) diagnosed

# entry[].resource.compose.include[].concept[].code
Diagnosed with any of the following: leukemia, TMD, or leukemoid reaction

# entry[].resource.compose.include[].concept[].display
isolated congenital growth hormone deficiency

# entry[].resource.compose.include[].concept[].code
Vitiligo (white patches of skin without any pigment)

# entry[].resource.compose.include[].concept[].code
Presbyopia ("old eyes" requiring magnifying lenses or reading glasses)

# entry[].resource.compose.include[].concept[].code
Other mental health condition(s) diagnosed

# entry[].resource.compose.include[].concept[].code
Systemic Lupus Erythematosus (SLE) or other autoimmune disease

# entry[].resource.compose.include[].concept[].code
Metabolic syndrome (combination of at least 2-3 of the following: high blood pressure, high blood sugar, unhealthy cholesterol levels, and increased abdominal fat)

# entry[].resource.compose.include[].concept[].code
Other corneal problem or keratoconus (eye covering is cone-shaped and causes double vision)

# entry[].resource.compose.include[].concept[].code
Partial Trisomy 21 (only a part of chromosome 21 is present in 3 copies)

# entry[].resource.compose.include[].concept[].code
Diagnosed with testicular cancer (for males)

# entry[].resource.compose.include[].concept[].code
Diagnosed with cervical cancer (for females)

# entry[].resource.compose.include[].concept[].code
Has the participant ever been diagnosed with COVID-19 (novel coronavirus disease)? - Yes

# entry[].resource.compose.include[].concept[].code
Hypothyroidism (low thyroid function); high TSH, low T4 levels

# entry[].resource.compose.include[].concept[].code
Other congenital heart defect(s) diagnosed

# entry[].resource.compose.include[].concept[].code
Hyperthyroidism (overactive thyroid); low TSH, high T4 levels

# entry[].resource.compose.include[].concept[].code
Celiac disease (gluten or wheat intolerance)

# entry[].resource.compose.include[].concept[].code
Atrioventricular septal defect (or AV canal defect)

# entry[].resource.compose.include[].concept[].code
Subclinical or compensated hypothyroidism (hyperthyrotropinemia); high TSH, normal T4 levels

# entry[].resource.compose.include[].concept[].code
Inflammatory bowel disease (Crohn's disease or ulcerative colitis)

# entry[].resource.compose.include[].concept[].code
Gastroesophageal reflux (GERD; acid reflux)

# entry[].resource.compose.include[].concept[].code
Duodenal atresia, stenosis or web (blockage or narrowing of intestines beyond the stomach)

# entry[].resource.compose.include[].concept[].code
Hashimoto thyroiditis (immune system attacks thyroid gland which stops making T4)

# entry[].resource.compose.include[].concept[].code
Pyloric stenosis (blockage of intestines just below the stomach causing projectile vomiting in newborns)

# entry[].resource.compose.include[].concept[].code
Insomnia (difficulty falling asleep or staying asleep)

# entry[].resource.compose.include[].concept[].code
Hirschsprung disease (the gut doesn't move the stool and becomes enlarged inside)

# entry[].resource.compose.include[].concept[].code
Osteoporosis (weak, brittle bones that are easy to break)

# entry[].resource.compose.include[].concept[].code
Esophageal atresia (swallowing tube is blocked) or tracheoesophageal fistula (swallowing tube connects to windpipe)

# entry[].resource.compose.include[].concept[].code
Anal stenosis/atresia (blockage of intestines near the anus where the stool comes out)

# entry[].resource.compose.include[].concept[].code
Cervical spine degeneration (pain or numbness in the neck or extremities from weakness in the neck bones)

# entry[].resource.compose.include[].concept[].code
Has the participant ever been diagnosed with a thyroid condition? - Yes

# entry[].resource.compose.include[].concept[].code
Has the participant been diagnosed with a congenital heart defect (a birth defect of the heart)? - Yes

# entry[].resource.compose.include[].concept[].code
Has the participant ever been diagnosed with any gastrointestinal (gut or intestinal) conditions? - Yes

# entry[].resource.compose.include[].concept[].code
Has the participant ever been diagnosed with any sleep problems? - Yes

# entry[].resource.compose.include[].concept[].code
Has the participant ever been diagnosed with a skeletal problem (problems with the bones or joints)? - Yes

# entry[].resource.compose.include[].concept[].code
Down syndrome - specific diagnosis not provided

# entry[].resource.compose.include[].concept[].display
Down syndrome - specific diagnosis not provided

# entry[].resource.compose.include[].concept[].code
Hirschsprung disease (the gut doesn't move the stool and becomes enlarged inside)

# entry[].resource.compose.include[].concept[].code
Has the participant ever been diagnosed with diabetes? - Yes

# entry[].resource.compose.include[].concept[].code
Language delay: difficulty understanding what others are saying as well as those of the same age

# entry[].resource.compose.include[].concept[].code
Speech delay: difficulty speaking as clearly as those of the same age

# entry[].resource.compose.include[].concept[].code
Mixed receptive and expressive language impairment

# entry[].resource.compose.include[].concept[].code
Verbal apraxia/dyspraxia (difficulty saying what he/she intends correctly and consistently)

# entry[].resource.compose.include[].concept[].code
Folliculitis (red rash where the hair comes out of the skin)

# entry[].resource.compose.include[].concept[].code
Other eye or vision condition(s) diagnosed

# entry[].resource.compose.include[].concept[].code
Has the participant ever been diagnosed with any form of seizures or epilepsy? - Yes

# entry[].resource.compose.include[].concept[].code
Transient hearing loss (hearing loss went away)

# entry[].resource.compose.include[].concept[].code
Attention Deficit Disorder (ADD) or Attention Deficit Hyperactivity Disorder (ADHD)

# entry[].resource.compose.include[].concept[].code
Visual processing deficits (difficulty seeing differences between colors, shapes, patterns)

# entry[].resource.compose.include[].concept[].code
Has participant ever been diagnosed with celiac disease (gluten or wheat intolerance)? - Yes

# entry[].resource.compose.include[].concept[].code
Lacrimal duct stenosis (blockage of tear duct)

# entry[].resource.compose.include[].concept[].code
Alopecia areata (loss of hair on scalp at a young age)

# entry[].resource.compose.include[].concept[].code
Sensorineural hearing loss (permanent nerve hearing loss)

# entry[].resource.compose.include[].concept[].code
Autism or Autism Spectrum Disorder (ASD)

# entry[].resource.compose.include[].concept[].code
Regression or loss of previously attained skills (speech-language, social, self-help or motor skills)

# entry[].resource.compose.include[].concept[].code
Other metabolic, hormonal, or autoimmune condition(s) diagnosed

# entry[].resource.compose.include[].concept[].code
Swallowing disorder (required a gastrostomy tube or nasogastric tube for more than 1 month)

# entry[].resource.compose.include[].concept[].code
Diagnosed with any of the following: leukemia, TMD, or leukemoid reaction

# entry[].resource.compose.include[].concept[].display
Decreased response to growth hormone stimulation test

# entry[].resource.compose.include[].concept[].code
Vitiligo (white patches of skin without any pigment)

# entry[].resource.compose.include[].concept[].code
Diagnosed with mild cognitive decline or mild cognitive impairment

# entry[].resource.compose.include[].concept[].code
Regression (loss of previously stable functional skills)

# entry[].resource.compose.include[].concept[].code
Other mental health condition(s) diagnosed

# entry[].resource.compose.include[].concept[].code
Systemic Lupus Erythematosus (SLE) or other autoimmune disease

# entry[].resource.compose.include[].concept[].code
Exhibiting early signs of dementia or loss of skills that are being monitored

# entry[].resource.compose.include[].concept[].code
Other corneal problem or keratoconus (eye covering is cone-shaped and causes double vision)

# entry[].resource.compose.include[].concept[].code
Diagnosed with testicular cancer (for males)

# entry[].resource.compose.include[].concept[].code
Diagnosed with cervical cancer (for females)

# entry[].resource.compose.include[].concept[].code
Hypothyroidism (low thyroid function); high TSH, low T4 levels

# entry[].resource.compose.include[].concept[].code
Other congenital heart defect(s) diagnosed

# entry[].resource.compose.include[].concept[].code
Hyperthyroidism (overactive thyroid); low TSH, high T4 levels

# entry[].resource.compose.include[].concept[].code
Celiac disease (gluten or wheat intolerance)

# entry[].resource.compose.include[].concept[].code
Positive thyroglobulin or thyroid peroxidase (TPO) antibodies

# entry[].resource.compose.include[].concept[].code
Atrioventricular septal defect (or AV canal defect)

# entry[].resource.compose.include[].concept[].code
Subclinical or compensated hypothyroidism (hyperthyrotropinemia); high TSH, normal T4 levels

# entry[].resource.compose.include[].concept[].code
Inflammatory bowel disease (Crohn's disease or ulcerative colitis)

# entry[].resource.compose.include[].concept[].code
Gastroesophageal reflux (GERD; acid reflux)

# entry[].resource.compose.include[].concept[].code
Atlanto-axial instability or (neck spine is weak or unstable)

# entry[].resource.compose.include[].concept[].code
Duodenal atresia, stenosis or web (blockage or narrowing of intestines beyond the stomach)

# entry[].resource.compose.include[].concept[].code
Hashimoto thyroiditis (immune system attacks thyroid gland which stops making T4)

# entry[].resource.compose.include[].concept[].code
Pyloric stenosis (blockage of intestines just below the stomach causing projectile vomiting in newborns)

# entry[].resource.compose.include[].concept[].code
Insomnia (difficulty falling asleep or staying asleep)

# entry[].resource.compose.include[].concept[].code
Hirschsprung disease (the gut doesn't move the stool and becomes enlarged inside)

# entry[].resource.compose.include[].concept[].code
Osteoporosis (weak, brittle bones that are easy to break)

# entry[].resource.compose.include[].concept[].code
Esophageal atresia (swallowing tube is blocked) or tracheoesophageal fistula (swallowing tube connects to windpipe)

# entry[].resource.compose.include[].concept[].code
Aspiration (inhalation of oral secretions, food, water, or gastric contents into the lower airways, which can lead to pneumonia)

# entry[].resource.compose.include[].concept[].code
Anal stenosis/atresia (blockage of intestines near the anus where the stool comes out)

# entry[].resource.compose.include[].concept[].display
Abnormality of the gastrointestinal tract

# entry[].resource.compose.include[].concept[].code
Has the participant ever been diagnosed with a thyroid condition? - Yes

# entry[].resource.compose.include[].concept[].code
Has the participant been diagnosed with a congenital heart defect (a birth defect of the heart)? - Yes

# entry[].resource.compose.include[].concept[].code
Has the participant ever been diagnosed with any gastrointestinal (gut or intestinal) conditions? - Yes

# entry[].resource.compose.include[].concept[].display
Abnormality of the gastrointestinal tract

# entry[].resource.compose.include[].concept[].code
Has the participant ever been diagnosed with any sleep problems? - Yes

# entry[].resource.compose.include[].concept[].code
Has the participant ever been diagnosed with a skeletal problem (problems with the bones or joints)? - Yes

# entry[].resource.compose.include[].concept[].code
Hirschsprung disease (the gut doesn't move the stool and becomes enlarged inside)

# entry[].resource.compose.include[].concept[].code
Has the participant ever seen an audiologist for hearing testing? - Yes

# entry[].resource.compose.include[].concept[].code
Has the participant ever had an eye exam performed by an eye doctor or an ophthalmologist? - Yes

# entry[].resource.compose.include[].concept[].code
Surgery for a congenital heart defect in the first year of life

# entry[].resource.compose.include[].concept[].code
Tympanostomy tubes (myringotomy tubes; PE or pressure equalization tubes) in eardrum to allow fluid to drain from middle ear

# entry[].resource.compose.include[].concept[].display
myringotomy and insertion of tympanic ventilation tube

# entry[].resource.compose.include[].concept[].code
Surgery for a congenital heart defect after the first year of life

# entry[].resource.compose.include[].concept[].code
Cardiac surgery for other reason later in life

# entry[].resource.title
ValueSet for values associated with sources codes in data harmonization from study, DSC.

# entry[].resource.compose.include[].concept[].display
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].display
In the past 12 months, how many times has the participant been admitted to a hospital overnight or longer?

# entry[].resource.compose.include[].concept[].display
Native Hawaiian or Other Pacific Islander

# entry[].resource.compose.include[].concept[].display
Peripheral Blood Mononuclear Cell Sample

# entry[].resource.title
ValueSet for values associated with targets codes in data harmonization from study, BRI-DSR.

# entry[].resource.compose.include[].concept[].code
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].display
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].code
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].display
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].code
In the past 12 months, how many times has the participant been admitted to a hospital overnight or longer?

# entry[].resource.compose.include[].concept[].display
In the past 12 months, how many times has the participant been admitted to a hospital overnight or longer?

# entry[].resource.compose.include[].concept[].display
Condition was observed or reported (this will be the case for most conditions)

# entry[].resource.compose.include[].concept[].code
Native Hawaiian or Other Pacific Islander

# entry[].resource.compose.include[].concept[].display
Native Hawaiian or Other Pacific Islander

# entry[].resource.compose.include[].concept[].code
Epileptic encephalopathy not otherwise specified

# entry[].resource.compose.include[].concept[].code
Polyhydramnios, megalencephaly and symptomatic epilepsy syndrome (PMSE) caused by homozygous or compound heterozygous mutations in STRADA

# entry[].resource.compose.include[].concept[].code
Epileptic encephalopathy not otherwise specified

# entry[].resource.title
ValueSet for values associated with sources codes in data harmonization from study, BRI-DSR.

# entry[].resource.compose.include[].concept[].display
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].display
In the past 12 months, how many times has the participant been admitted to a hospital overnight or longer?

# entry[].resource.compose.include[].concept[].display
Native Hawaiian or Other Pacific Islander

# entry[].resource.compose.include[].concept[].display
Peripheral Blood Mononuclear Cell Sample

# entry[].resource.title
ValueSet for values associated with targets codes in data harmonization from study, ABC-DS.

# entry[].resource.compose.include[].concept[].code
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].display
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].code
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].display
Peripheral blood blast percentage at birth

# entry[].resource.compose.include[].concept[].code
In the past 12 months, how many times has the participant been admitted to a hospital overnight or longer?

# entry[].resource.compose.include[].concept[].display
In the past 12 months, how many times has the participant been admitted to a hospital overnight or longer?

# entry[].resource.compose.include[].concept[].display
Condition was observed or reported (this will be the case for most conditions)

# entry[].resource.compose.include[].concept[].code
Native Hawaiian or Other Pacific Islander

# entry[].resource.compose.include[].concept[].display
Native Hawaiian or Other Pacific Islander

# entry[].resource.title
ValueSet for values associated with sources codes in data harmonization from study, ABC-DS.

# entry[].resource.compose.include[].concept[].display
Native Hawaiian or Other Pacific Islander

# entry[].resource.title
ValueSet for values associated with targets codes in data harmonization from study, GREGoR_DD.

# entry[].resource.compose.include[].concept[].code
Native Hawaiian or Other Pacific Islander

# entry[].resource.compose.include[].concept[].display
Native Hawaiian or Other Pacific Islander

# entry[].resource.title
ValueSet for values associated with sources codes in data harmonization from study, GREGoR_DD.

# entry[].resource.title
ValueSet for all values associated with variable, phenotype.additional_modifiers, from study, GREGoR_DD.

# entry[].resource.title
ValueSet for all values associated with variable, phenotype.onset_age_range, from study, GREGoR_DD.

# entry[].resource.title
ValueSet for all values associated with variable, phenotype.ontology, from study, GREGoR_DD.

# entry[].resource.title
ValueSet for all values associated with variable, phenotype.presence, from study, GREGoR_DD.

# entry[].resource.title
ValueSet for all variables associated with table, phenotype, from study, GREGoR_DD.

# entry[].resource.title
ValueSet for all values associated with variable, family.consanguinity, from study, GREGoR_DD.

# entry[].resource.title
ValueSet for all variables associated with table, family, from study, GREGoR_DD.

# entry[].resource.title
ValueSet for all values associated with variable, experiment_dna_short_read.experiment_type, from study, GREGoR_DD.

# entry[].resource.title
ValueSet for all variables associated with table, experiment_dna_short_read, from study, GREGoR_DD.

# entry[].resource.title
ValueSet for all values associated with variable, called_variants_dna_short_read.variant_types, from study, GREGoR_DD.

# entry[].resource.title
ValueSet for all variables associated with table, called_variants_dna_short_read, from study, GREGoR_DD.

# entry[].resource.title
ValueSet for all variables associated with table, aligned_dna_short_read_set, from study, GREGoR_DD.

# entry[].resource.title
ValueSet for all values associated with variable, analyte.tissue_affected_status, from study, GREGoR_DD.

# entry[].resource.title
ValueSet for all values associated with variable, analyte.primary_biosample, from study, GREGoR_DD.

# entry[].resource.title
ValueSet for all values associated with variable, analyte.analyte_type, from study, GREGoR_DD.

# entry[].resource.title
ValueSet for all variables associated with table, analyte, from study, GREGoR_DD.

# entry[].resource.title
ValueSet for all values associated with variable, participant.affected_status, from study, GREGoR_DD.

# entry[].resource.title
ValueSet for all values associated with variable, participant.reported_ethnicity, from study, GREGoR_DD.

# entry[].resource.title
ValueSet for all values associated with variable, participant.reported_race, from study, GREGoR_DD.

# entry[].resource.title
ValueSet for all values associated with variable, participant.sex, from study, GREGoR_DD.

# entry[].resource.title
ValueSet for all values associated with variable, participant.proband_relationship, from study, GREGoR_DD.

# entry[].resource.title
ValueSet for all values associated with variable, participant.recontactable, from study, GREGoR_DD.

# entry[].resource.title
ValueSet for all values associated with variable, participant.consent_code, from study, GREGoR_DD.

# entry[].resource.title
ValueSet for all values associated with variable, participant.gregor_center, from study, GREGoR_DD.

# entry[].resource.title
ValueSet for all variables associated with table, participant, from study, GREGoR_DD.

# entry[].resource.title
ValueSet for all variables associated with table, DataSet, from study, GREGoR_DD.

# entry[].resource.compose.include[].concept[].display
Native Hawaiian or Other Pacific Islander

# entry[].resource.title
ValueSet for values associated with targets codes in data harmonization from study, CCDG_DD.

# entry[].resource.compose.include[].concept[].code
Native Hawaiian or Other Pacific Islander

# entry[].resource.compose.include[].concept[].display
Native Hawaiian or Other Pacific Islander

# entry[].resource.title
ValueSet for values associated with sources codes in data harmonization from study, CCDG_DD.

# entry[].resource.title
ValueSet for all values associated with variable, sequencing.sex, from study, CCDG_DD.

# entry[].resource.title
ValueSet for all values associated with variable, sequencing.sequencing_assay, from study, CCDG_DD.

# entry[].resource.title
ValueSet for all values associated with variable, sequencing.analyte_type, from study, CCDG_DD.

# entry[].resource.title
ValueSet for all variables associated with table, sequencing, from study, CCDG_DD.

# entry[].resource.title
ValueSet for all values associated with variable, sample.sample_source, from study, CCDG_DD.

# entry[].resource.title
ValueSet for all variables associated with table, sample, from study, CCDG_DD.

# entry[].resource.title
ValueSet for all values associated with variable, subject.affected_status, from study, CCDG_DD.

# entry[].resource.title
ValueSet for all values associated with variable, subject.race_ethnicity, from study, CCDG_DD.

# entry[].resource.title
ValueSet for all values associated with variable, subject.sex, from study, CCDG_DD.

# entry[].resource.title
ValueSet for all values associated with variable, subject.dbgap_consent_id, from study, CCDG_DD.

# entry[].resource.title
ValueSet for all variables associated with table, subject, from study, CCDG_DD.

# entry[].resource.title
ValueSet for all variables associated with table, DataSet, from study, CCDG_DD.

# entry[].resource.compose.include[].concept[].display
Native Hawaiian or Other Pacific Islander

# entry[].resource.title
ValueSet for values associated with targets codes in data harmonization from study, CMG_DD.

# entry[].resource.compose.include[].concept[].code
Native Hawaiian or Other Pacific Islander

# entry[].resource.compose.include[].concept[].display
Native Hawaiian or Other Pacific Islander

# entry[].resource.title
ValueSet for values associated with sources codes in data harmonization from study, CMG_DD.

# entry[].resource.title
ValueSet for all values associated with variable, discovery.significance, from study, CMG_DD.

# entry[].resource.title
ValueSet for all values associated with variable, discovery.sv_type, from study, CMG_DD.

# entry[].resource.title
ValueSet for all values associated with variable, discovery.zygosity, from study, CMG_DD.

# entry[].resource.title
ValueSet for all values associated with variable, discovery.inheritance_description, from study, CMG_DD.

# entry[].resource.title
ValueSet for all values associated with variable, discovery.gene_class, from study, CMG_DD.

# entry[].resource.title
ValueSet for all variables associated with table, discovery, from study, CMG_DD.

# entry[].resource.title
ValueSet for all values associated with variable, family.family_history, from study, CMG_DD.

# entry[].resource.title
ValueSet for all values associated with variable, family.consanguinity, from study, CMG_DD.

# entry[].resource.title
ValueSet for all variables associated with table, family, from study, CMG_DD.

# entry[].resource.title
ValueSet for all values associated with variable, sequencing.functional_equivalence_standard, from study, CMG_DD.

# entry[].resource.title
ValueSet for all values associated with variable, sequencing.sequencing_assay, from study, CMG_DD.

# entry[].resource.title
ValueSet for all values associated with variable, sequencing.analyte_type, from study, CMG_DD.

# entry[].resource.title
ValueSet for all variables associated with table, sequencing, from study, CMG_DD.