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{"sheet":"Core Dataset","index":0,"n_rows":47,"n_cols":3,"rows_kept":47,"cut":false,"hidden":false,"merged":[]}
["Field","Values","Notes"]
["Referring physician eurowabb code","List of registered physician"]
["Patient No ","numerical","Autogenerated on entry of record"]
["European Registry (EURO-WABB) Patient Consent","Yes or No or Withdrawn?","Yes (specify multiple choices from drop down list for: assent of child; consent of patient; consent of parent/guardian; consent of next of kin; consent of consultee); No (in which case cannot enter data); Withdrawn and locked.  "]
["Date of Euro-WABB Patient Consent","Date"]
["Data Sharing Consents (other than EURO-WABB)","Yes or No or Withdrawn?","Drop down list: National registry; European registry other than EURO-WABB; non-European registry"]
["Date of completion of record","Date- automatically populated with the current date ","Autogenerated on entry of record"]
["Physician diagnosis","Wolfram, Alstrom, Bardet-Biedl, Wolcott-Rallison, Thiamin responsive megaloblastic anaemia deafness and diabetes, other, not known "]
["Free text if physician diagnosis is 'other' ","Text"]
["Date of diagnosis ","Date"]
["Gender","Male or Female"]
["DOB","Date"]
["Age when record completed","numeric value","Automatically calculates"]
["Deceased","Yes or No"]
["Date of death","Date"]
["Other family member affected?","Yes or No or Not Known"]
["Family Member Registry ID(s)"]
["Eye involvement ","Optic atrophy (H47.2); Hereditary retinal dystrophy (H35.5), Other, No involvement, Not known","Multiple selections possible"]
["Age of onset of symptoms ","numeric age value years  "]
["Deafness","Sensorineural hearing loss (H90.5); Conductive hearing loss (H90.2); mixed conductive and sensorineural heaering loss (H90.8); other; no involvement; not known","Multiple selections possible"]
["Age of onset of symptoms ","numeric age value yrs"]
["Diabetes mellitus ","Unspecified diabetes mellitus (E14); Impaired glucose tolerance (R73.0); other; no involvement; not known"]
["Age of onset of symptoms ","numeric age value"]
["Age resolved (if applicable)","numerical age value "]
["Diabetes insipidus ","Diabetes Insipidus (E23.2); no involvement; not known"]
["Age of onset of symptoms ","numeric age value"]
["History of obesity","Obesity unspecified (E66.9) Yes;No;Not Known"]
["Age of onset of symptoms ","numeric age value"]
["History of heart disease in childhood","Cardiomyopathy, unspecified (I42.9);other;No;Not Known"]
["Age of onset of symptoms ","numeric age value"]
["Age resolved (if applicable)","numerical age value "]
["History of Liver Involvement","Hepatic Failure (K72.9); Fatty (change of) liver (K76.0); other; no involvement; not known  "]
["Age of onset of symptoms ","numeric age value"]
["Genito-urinary Disorders","Polycystic kidneys, unspecified (Q61.3); flaccid neuropathic bladder, not elsewhere specified  (N31.2); chronic renal failure (N18.9); other;no involvement; not known. "]
["Age of onset of symptoms ","numeric age value","Cystic kidneys default value of 0"]
["Neurological involvement ","Degenerative disease of nervous system, unspecified (G31.9); other;no ; not known"]
["Age of onset of symptoms ","numeric age value"]
["Psychological Health Involvement","Unspecified organic personality and behavioural disorder due to brain disease, damage and dysfunction (F07.9); Unspecified mental retardation (F79); no; other; not known"," Includes mild or moderate learning difficulties"]
["Age of onset of symptoms ","Numeric age value"]
["History of polydactyly","Polydactyly (Q69.9); no; not known"]
["Other major diagnostic symptom not covered by above options ","Yes or no"]
["Free field text if physician checks 'yes'"]
["Molecular diagnosis made?","Yes / No / Not Known"]
["Gene ","Select Gene","Drop down list showing all mutations listed on LOVD database with option of entering an unlisted mutation. "]
["Allele 1","Nucleotide change or amino acid change","Free text field"]
["Allele 2","Nucleotide change or amino acid change","Free text field"]
["Allele 3","Nucleotide change or amino acid change","Free text field"]

{"sheet":"Extended Dataset","index":1,"n_rows":400,"n_cols":5,"rows_kept":400,"cut":false,"hidden":false,"merged":[]}
["Grouping","Subgrouping","Field","Values","Notes"]
["Demographics","Demographics","Ethnicity","A1:  British / A2:  French / A3:  Spanish / A4:  Italian / A5:  Polish / A6:  Estonian / A7:  German / A8:  Danish / A9:  Romanian / A10: Turkish / A11: Portugese / A12: Belgian / A13: Netherlands / A14: Luxembourg / A15: Austrian / A16: Latvian / A17: Lithuanian / A18: Norwegian / A19: Swedish / A20: Finnish / A21: Hungarian / A22: Serbian / A23: Greek / A24: Albanian / A25: Czech Republic / A26: Slovak Republic / A27: Kosovan / B: Irish / C: Other White / D: White and Caribbean / E: White and Black African / F: White and Asian / G: Other Mixed / H: Indian / J: Pakistani / K: Bangladeshi / L: Other Asian / M: Black Caribbean / N: Black African / P: Black Other / R: Chinese / S: Other / Z: not given / ZZ: not known"]
["Baseline Data","Baseline Data","Age when record completed","Calculate to year & month from current date and DOB","Autocalculated"]
["Family History","Family History","Other family member affected?","Yes / No / Not Known","Autocompleted from Core Dataset entry"]
["Family History","Parental History","Are parents related?","Yes/ No / Not Known"]
["Family History","Parental History","Nature of relationship","First cousins (2 grandparents related); First cousins (all 4 grandparents related); uncle/niece relation; relation in more distant ancestor/ unknown but parents come from same village"]
["Family History","Parental History","Maternal year of birth","Year","To allow for possibility of future request for prenatal diagnosis"]
["Family History","Parental History","Biological parent?","Biological mother; biological father; no; not known (if no, then dont need rest of boxes relating to biological parent only)","I suggest have set of boxes for biological mother, and set for biological father"]
["Family History","Parental History","Deceased","Yes / No / Not Known"]
["Family History","Parental History","Age at death","YY"]
["Family History","Parental History","Cause of death","[Free Text]"]
["Family History","Parental History","Parent health ","Healthy; core dataset symptom; other illness ","Drop-down list of the core dataset ICD10 codes with the relevant descriptions beside.  "]
["Family History","Parental History","Parent health: core dataset symptom ","Drop-down list of the core dataset ICD10 codes with the relevant descriptions beside.  ","Multiple selections enabled"]
["Family History","Parental History","Parent health: other illness","[Free Text]"]
["Family History","Sibling and or biological children","date of birth","DD/MM/YY","Up to 12 siblings and up to 5 children "]
["Family History","Sibling and or biological children","gender","Male / Female"]
["Family History","Sibling and or biological children","nature of relationship","Full Sibling / Half Sibling / Step Sibling","If step sibing, then no further information needed"]
["Family History","Sibling and or biological children","Same diagnosis made as in index case above?","Yes / No / Not Known"]
["Family History","Sibling and or biological children","Patient number if Known",null,"If 'yes' for sibling/biological children"]
["Family History","Sibling and or biological children","Sibling  health","Healthy / core dataset symptom / other illness ","Drop-down list of the core dataset ICD10 codes with the relevant descriptions beside.  "]
["Family History","Sibling and or biological children","Sibling health: core dataset symptom ","Drop-down list of the core dataset ICD10 codes with the relevant descriptions beside.  "]
["Family History","Sibling and or biological children","Sibling health; 'other' illness","[Free Text]"]
["Family History","Other Family","Relevant illnesses in other family members (grandparents, uncles, aunts, cousins?","Yes / No / Not Known","Up to 5 other family members"]
["Family History","Other Family","[if yes, then the following options]","Healthy / core dataset symptom / other illness "]
["Family History","Other Family","Other Family' health: core dataset symptom","Drop-down list of the core dataset ICD10 codes with the relevant descriptions beside.  ","Multiple selections enabled"]
["Family History","Other Family","Other Family' health: 'other' illness","[Free Text]"]
["Medical History","Vision","Eye involvement ","Optic atrophy (H47.2); Hereditary retinal dystrophy (H35.5), Other, No involvement, Not known","Autocompleted from Core Dataset entry"]
["Medical History","Vision","Age of onset of symptoms ","numeric age value ","Autocompleted from Core Dataset entry"]
["Medical History","Vision","Visual acuity","(H54.0) Blindness Both Eyes, (H54.1) Blindness one eye low vision other eye, (H54.2) Low vision both eyes","With link: http://apps.who.int/classifications/apps/icd/icd10online/"]
["Medical History","Vision","Optic atrophy (H47.2)","Yes / No","Autocompleted from Core Dataset entry"]
["Medical History","Vision","Optic atrophy (H47.2) age at diagnosis","Numerical age value"]
["Medical History","Vision","Retinal dystrophy (H35.5) ",null,"Autocompleted from Core Dataset entry"]
["Medical History","Vision","Retinal dystrophy (H35.5) age at diagnosis","Numerical age value"]
["Medical History","Vision","Type of dystrophy","[Free Text]"]
["Medical History","Vision","Macular degeneration (H35.3)","Yes / No / Not Known"]
["Medical History","Vision","age at diagnosis","Numerical age value"]
["Medical History","Vision","Cataract, unspecified (H26.9)","Yes / No / Not Known"]
["Medical History","Vision","age at diagnosis","Numerical age value"]
["Medical History","Vision","Glaucoma, unspecified (H40.9)","Yes / No / Not Known"]
["Medical History","Vision","age at diagnosis","Numerical age value"]
["Medical History","Vision","Strabismus, unspecified (H50.9)","Yes / No / Not Known"]
["Medical History","Vision","age at diagnosis","Numerical age value"]
["Medical History","Vision","(H53.5) Colour Vision Deficiencies - includes colour blindness","Yes / No / Not Known"]
["Medical History","Vision","(H53.6) Night Blindness","Yes / No / Not Known"]
["Medical History","Vision","photophobia (H53.1)","Yes / No / Not Known"]
["Medical History","Vision","(H55) Nystagmus and/or other irregular eye movements","Yes / No / Not Known"]
["Medical History","Vision","date of most recent visual function tests ","DD/MM/YY","Accept YY only if full date not available"]
["Medical History","Vision","Reduced Visual acuity","Yes / No / Not Known","if yes, open box for date of examination, then right and left eyes"]
["Medical History","Vision","right eye","[numerical value e.g. 6/60; ranges 0-60/0-60]; then also options of: 'No perception of Light (NPL) / Perception of Light (PL) / Hand Movements (HM) / Counting Fingers (CF)'"]
["Medical History","Vision","left eye","[numerical value e.g. 6/60; ranges 0-60/0-60]; then also options of: 'No perception of Light (NPL) / Perception of Light (PL) / Hand Movements (HM) / Counting Fingers (CF)'"]
["Medical History","Vision","Visual fields","Yes / No / Not Known","if yes, open box for date of examination, then right and left eyes"]
["Medical History","Vision","right eye","normal / reduced peripheral fields only / reduced peripheral and central fields"]
["Medical History","Vision","left eye","normal / reduced peripheral fields only / reduced peripheral and central fields"]
["Medical History","Vision","Scotoma (H53.4)  right eye","Yes / No / Not Known"]
["Medical History","Vision","Scotoma (H53.4) left eye","Yes / No / Not Known"]
["Medical History","Vision","ERG","Yes / No / Not Known"]
["Medical History","Vision","date of test","DD/MM/YY","Accept YY only if full date not available"]
["Medical History","Vision","right eye","[Free Text]"]
["Medical History","Vision","left eye ","[Free Text]"]
["Medical History","Vision","VEP","Yes / No / Not Known"]
["Medical History","Vision","date of test","DD/MM/YY","Accept YY only if full date not available"]
["Medical History","Vision","right eye","[Free Text]"]
["Medical History","Vision","left eye ","[Free Text]"]
["Medical History","Vision","Other visual function test ","Yes / No / Not Known"," Up to 3 additional visual function tests"]
["Medical History","Vision","date of test ","DD/MM/YY"]
["Medical History","Vision","name of test ","[Free Text]"]
["Medical History","Vision","result ","[Free Text]"]
["Medical History","Hearing","Deafness","Sensorineural hearing loss (H90.5); Conductive hearing loss (H90.2); mixed conductive and sensorineural hearing loss (H90.8); other; no involvement; not known","Autocompleted from Core Dataset entry"]
["Medical History","Hearing","Age of onset of symptoms ","numeric age value","Autocompleted from Core Dataset entry"]
["Medical History","Hearing","Hearing loss right ear ","Yes / No / Not Known ","If yes, opens box for high frequency or low frequency or all frequencies or not known"]
["Medical History","Hearing","Hearing loss high or low frequency (H91.9)","High Frequency; Low Frequency; All Frequencies; Not known"]
["Medical History","Hearing","Hearing loss left ear ","Yes / No / Not Known ","If yes, opens box for high frequency or low frequency or all frequencies or not known"]
["Medical History","Hearing","Hearing loss high or low frequency (H91.9)","High Frequency; Low Frequency; All Frequencies; Not known"]
["Medical History","Hearing","Chronic mucoid otitis media (Recurrent Glue ear) (H65.3)","Yes / No / Not Known "]
["Medical History","Hearing","Audiogram","Yes / No / Not Known ","If yes opens box for date the most recent audiogram was performed and box for result"]
["Medical History","Hearing","Date of most recent audiogram","DD/MM/YY"]
["Medical History","Hearing","result ","[Free Text]"]
["Medical History","Hearing","Brain stem auditory evoked potentials","Yes / No / Not Known ","If yes, opens box for date the most recent test done, and box for result (free field text)"]
["Medical History","Hearing","Date of most recent test","DD/MM/YY"]
["Medical History","Hearing","result ","[Free Text]"]
["Medical History","Hearing","Oto-acoustic emissions","Yes / No / Not Known ","If yes, opens box for date the most recent test done, and box for result (free field text)"]
["Medical History","Hearing","Date of most recent test","DD/MM/YY"]
["Medical History","Hearing","result ","[Free Text]"]
["Medical History","Hearing","Other auditory function test ","Yes / No / Not Known ","Up to 3 additional visual function tests? "]
["Medical History","Hearing","date of test ","DD/MM/YY"]
["Medical History","Hearing","name of test ","[Free Text]"]
["Medical History","Hearing","result ","[Free Text]"]
["Medical History","Endocrinology & Metabolism","Diabetes mellitus ","Unspecified diabetes mellitus (E14); Impaired glucose tolerance (R73.0); other; no involvement; not known","Autocompleted from Core Dataset entry"]
["Medical History","Endocrinology & Metabolism","Diabetes mellitus: 'other'","[Free Text]","Autocompleted from Core Dataset entry"]
["Medical History","Endocrinology & Metabolism","Age of onset of symptoms ","numeric age value"]
["Medical History","Endocrinology & Metabolism","Age resolved (if applicable)","numeric age value "]
["Medical History","Endocrinology & Metabolism","Symptoms at diagnosis","(R63.1) Polydipsia, (R35) Polyuria, (N48.1) Balanoposthitis, (B37.9) Candidiasis, unspecified, (R63.4) Abnormal weight loss, (E14.1) Unspecified diabetes mellitus with ketoacidosis; no symptoms; not known","Only if has positive diagnosis for one of the diabetes categories "]
["Medical History","Endocrinology & Metabolism","Type of diabetes ","Juvenile onset and/or insulin dependent diabetes (ICD E10); type 2 diabetes and/or non-insulin dependent (E11); impaired glucose tolerance (R73.0)"]
["Medical History","Endocrinology & Metabolism","Acanthosis nigricans(L83)  present? ","Yes / No / Not Known "]
["Medical History","Endocrinology & Metabolism","Type 1 diabetes autoantibody tests (if performed)","Positive / Negative / Not Done / Not Known"]
["Medical History","Endocrinology & Metabolism","Blood glucose tests used to make diagnosis Result 1: Sample","Capillary sample / Venous sample"]
["Medical History","Endocrinology & Metabolism","Type","Random / Fasting"]
["Medical History","Endocrinology & Metabolism","Value","numerical value","11-500"]
["Medical History","Endocrinology & Metabolism","Units","mmol/L; mg/dl"]
["Medical History","Endocrinology & Metabolism","Date of test","DD/MM/YY"]
["Medical History","Endocrinology & Metabolism","Blood glucose tests used to make diagnosis Result 2: Sample","Capillary sample / Venous sample","Only if field 92 (symptoms at diagnosis) checks as no symptoms"]
["Medical History","Endocrinology & Metabolism","Type","Random / Fasting"]
["Medical History","Endocrinology & Metabolism","Value","numerical value","11-500"]
["Medical History","Endocrinology & Metabolism","Units","mmol/L; mg/dl"]
["Medical History","Endocrinology & Metabolism","Date of test","DD/MM/YY"]
["Medical History","Endocrinology & Metabolism","HbA1c ","Type of test value would be HbA1c"]
["Medical History","Endocrinology & Metabolism","Value","numerical value","4.7-140"]
["Medical History","Endocrinology & Metabolism","Units","mmol/L; %"]
["Medical History","Endocrinology & Metabolism","Date of test","DD/MM/YY"]
["Medical History","Endocrinology & Metabolism","Insulin measurement type","Random (post prandial); Fasting; not done "]
["Medical History","Endocrinology & Metabolism","Value","numerical value","5-600"]
["Medical History","Endocrinology & Metabolism","Units","mmol/L; mIU/L; Other"]
["Medical History","Endocrinology & Metabolism","Other","[Free Text]"]
["Medical History","Endocrinology & Metabolism","Date of test","DD/MM/YY"]
["Medical History","Endocrinology & Metabolism","C-peptide measurement type  ","Random (post prandial) / Fasting / Not Done "]
["Medical History","Endocrinology & Metabolism","Type","Random / Fasting"]
["Medical History","Endocrinology & Metabolism","Value","numerical value","5-600"]
["Medical History","Endocrinology & Metabolism","Units","mmol/L; mIU/L; Other"]
["Medical History","Endocrinology & Metabolism","Other","[Free Text]"]
["Medical History","Endocrinology & Metabolism","Date of test","DD/MM/YY"]
["Medical History","Endocrinology & Metabolism","severe hypoglycemia (with impaired consciousness) (E16.2) ","Yes / No / Not Known "]
["Medical History","Endocrinology & Metabolism","If yes, frequency","once a week or more; once a month or more; once every 6 months or more ; once a year or more; not in last year. "]
["Medical History","Endocrinology & Metabolism","severe hyperglycemia (unspecified diabetes mellitus with ketoacidosis) E14.1","Yes / No / Not Known "]
["Medical History","Endocrinology & Metabolism","If yes, frequency","once a month or more; once every 6 months or more; at least once in the past year; not in past year. "]
["Medical History","Endocrinology & Metabolism","Diabetes insipidus (E23.2) ","Yes / No / Not Known","Autocompleted from Core Dataset entry"]
["Medical History","Endocrinology & Metabolism","Diabetes insipidus (E23.2)  age of onset ","numeric age value","Autocompleted from Core Dataset entry"]
["Medical History","Endocrinology & Metabolism","Method of diagnosis","Water deprivation test / Early morning paired urine and blood samples"]
["Medical History","Endocrinology & Metabolism","Fasting blood sodium result value","numerical value (3 digits); has to be in mmol/L e.g. 115-175","Part of diagnostic test for diabetes insipidus"]
["Medical History","Endocrinology & Metabolism","Fasting blood osmolarity","numerical value to 3 digits; units have to be mOsmol/L e.g. 245-480","Part of diagnostic test for diabetes insipidus"]
["Medical History","Endocrinology & Metabolism","Fasting Urine Sodium result value","numerical value to 3 digits; units have to be mmol/L e.g. 5-145","Part of diagnostic test for diabetes insipidus"]
["Medical History","Endocrinology & Metabolism","Fasting urine osmolarity","numerical value to 3 digits; units have to be mOsmol/L e.g. 80-1100","Part of diagnostic test for diabetes insipidus"]
["Medical History","Endocrinology & Metabolism","Units","mOsmol/L","Part of diagnostic test for diabetes insipidus"]
["Medical History","Endocrinology & Metabolism","Date of Test","DD/MM/YY"]
["Medical History","Endocrinology & Metabolism","FSH","Unstimulated / Not done "]
["Medical History","Endocrinology & Metabolism","Units","[Free Text]","0.5-75"]
["Medical History","Endocrinology & Metabolism","Date Performed","DD/MM/YY"]
["Medical History","Endocrinology & Metabolism","normal range for your lab","[Free Text]"]
["Medical History","Endocrinology & Metabolism","Luteinising hormone","Unstimulated / Not done "]
["Medical History","Endocrinology & Metabolism","Units","[Free Text]"]
["Medical History","Endocrinology & Metabolism","Date Performed","DD/MM/YY"]
["Medical History","Endocrinology & Metabolism","normal range for your lab","[Free Text]"]
["Medical History","Endocrinology & Metabolism","Testosterone","Unstimulated / Not done ","e.g. 0.1-30"]
["Medical History","Endocrinology & Metabolism","Units","[Free Text]"]
["Medical History","Endocrinology & Metabolism","Date Performed","DD/MM/YY"]
["Medical History","Endocrinology & Metabolism","normal range for your lab","[Free Text]"]
["Medical History","Endocrinology & Metabolism","Oestradiol","baseline / not measured","e.g. 0.1-300"]
["Medical History","Endocrinology & Metabolism","Units","[Free Text]"]
["Medical History","Endocrinology & Metabolism","Date Performed","DD/MM/YY"]
["Medical History","Endocrinology & Metabolism","normal range for your lab","[Free Text]"]
["Medical History","Endocrinology & Metabolism","Androstenedione","baseline / not measured","e.g. Up to 30"]
["Medical History","Endocrinology & Metabolism","Most recent measure","[Free Text]"]
["Medical History","Endocrinology & Metabolism","Units","[Free Text]"]
["Medical History","Endocrinology & Metabolism","Date Performed","DD/MM/YY"]
["Medical History","Endocrinology & Metabolism","normal range for your lab","[Free Text]"]
["Medical History","Endocrinology & Metabolism","Dehydroepiandrosterone (DHEA)","baseline / not measured"]
["Medical History","Endocrinology & Metabolism","Most recent measure","[Free Text]","e.g. Up to 30"]
["Medical History","Endocrinology & Metabolism","Units","[Free Text]"]
["Medical History","Endocrinology & Metabolism","Date Performed","DD/MM/YY"]
["Medical History","Endocrinology & Metabolism","normal range for your lab","[Free Text]"]
["Medical History","Endocrinology & Metabolism","Dehydroepiandrosterone sulphate (DHEA-S)","baseline / not measured"]
["Medical History","Endocrinology & Metabolism","Most recent measure","[Free Text]","e.g. Up to 30"]
["Medical History","Endocrinology & Metabolism","Units","[Free Text]"]
["Medical History","Endocrinology & Metabolism","Date Performed","DD/MM/YY"]
["Medical History","Endocrinology & Metabolism","normal range for your lab","[Free Text]"]
["Medical History","Endocrinology & Metabolism","For females only: Menarche","Yes / No / Not Known "]
["Medical History","Endocrinology & Metabolism","Date of menarche","DD/MM/YY","Accept YY only if full date not available"]
["Medical History","Endocrinology & Metabolism","Menstrual disturbance","Yes / No / Not Known "]
["Medical History","Endocrinology & Metabolism","Type of Menstrual disturbance"," amenorrhoea, unspecified (N91.2); oligomenorrhoea unspecified (N91.5); dysmenorrhoea, unspecified (N94.6); menorrhagia (N92.0).  "]
["Medical History","Endocrinology & Metabolism","Delayed puberty (E30.0)","Yes / No / Not Known "]
["Medical History","Endocrinology & Metabolism","Pelvic ultrasound? ","Yes / Not Done / Not Known"]
["Medical History","Endocrinology & Metabolism","date of Pelvic ultrasound","DD/MM/YY"]
["Medical History","Endocrinology & Metabolism","result","[Free Text]"]
["Medical History","Endocrinology & Metabolism","Diagnosis of polycystic ovarian syndrome (E28.2)? ","Yes / No / Not Known "]
["Medical History","Endocrinology & Metabolism","Short stature (E43.3)? ","Yes / No / Not Known "]
["Medical History","Endocrinology & Metabolism","Current height in cm","numerical value in cm, 50-210 "]
["Medical History","Endocrinology & Metabolism","Date of last measurement","DD/MM/YY"]
["Medical History","Endocrinology & Metabolism","Growth hormone stimulation test? ","Yes / No / Not Known"]
["Medical History","Endocrinology & Metabolism","Date of test","DD/MM/YY"]
["Medical History","Endocrinology & Metabolism","name of test","[Free Text]"]
["Medical History","Endocrinology & Metabolism","result of peak growth hormone measurement","numerical value"]
["Medical History","Endocrinology & Metabolism","Units","[Free Text]","0-36"]
["Medical History","Endocrinology & Metabolism","Normal lower limit for your lab","numerical value "]
["Medical History","Endocrinology & Metabolism","Thyroid function test ","Yes / No / Not Known ","If yes then next fields for results "]
["Medical History","Endocrinology & Metabolism","Date of most recent results for TSH","DD/MM/YY"]
["Medical History","Endocrinology & Metabolism","result for TSH","numerical value","0.1-200"]
["Medical History","Endocrinology & Metabolism","units","[Free Text]"]
["Medical History","Endocrinology & Metabolism","normal range for your lab","[Free Text]"]
["Medical History","Endocrinology & Metabolism","FT4","numerical value",".2-48"]
["Medical History","Endocrinology & Metabolism","Units","[Free Text]"]
["Medical History","Endocrinology & Metabolism","normal range for your lab","[Free Text]"]
["Medical History","Endocrinology & Metabolism","Diagnosis of thyroid disease","Underactive (E03.9); overactive (E05.9); nontoxic goitre, unspecified (E04.9); thyroid nodule (E04.1); no thyroid disease"]
["Medical History","Endocrinology & Metabolism","date of first diagnosis ","DD/MM/YY","Accept YY only if full date not available"]
["Medical History","Endocrinology & Metabolism","History of obesity","Obesity unspecified (E66.9) Yes;No;Not Known","Autocompleted from Core Dataset entry"]
["Medical History","Endocrinology & Metabolism","Age of onset of symptoms ","numeric age value","Autocompleted from Core Dataset entry"]
["Medical History","Endocrinology & Metabolism","Current weight ","numerical value, Kg"]
["Medical History","Endocrinology & Metabolism","date of measurement","DD/MM/YY"]
["Medical History","Endocrinology & Metabolism","Current BMI","numerical value in kg/m2, derived from other collected data"]
["Medical History","Endocrinology & Metabolism","Lipodystrophy","Yes / No / Not Known ","E88.1"]
["Medical History","Endocrinology & Metabolism","Lipodystrophy Distribution","[Free Text]"]
["Medical History","Endocrinology & Metabolism","Genital abnormalities","Yes / No / Not Known "]
["Medical History","Endocrinology & Metabolism","type"," small penis (N48.9); small testes (N50.9); undescended testes (Q53.9); absent testes (Q55.0); hypospadius (Q54.9); other "]
["Medical History","Endocrinology & Metabolism","other detail","[Free Text]"]
["Medical History","Endocrinology & Metabolism","HDL Cholesterol","Random; Fasting; not done; not known"]
["Medical History","Endocrinology & Metabolism","Result in mmol/L","numerical","0-11"]
["Medical History","Endocrinology & Metabolism","Normal range","[Free Text]"]
["Medical History","Endocrinology & Metabolism","LDL Cholesterol","Random / Fasting / Not Done / Not Known"]
["Medical History","Endocrinology & Metabolism","Result in mmol/L","numerical"]
["Medical History","Endocrinology & Metabolism","Normal range","[Free Text]","0-11"]
["Medical History","Endocrinology & Metabolism","Triglycerides","Random / Fasting / Not Done / Not Known"]
["Medical History","Endocrinology & Metabolism","Result in mmol/L","numerical","0-30"]
["Medical History","Endocrinology & Metabolism","Normal range","[Free Text]"]
["Medical History","Endocrinology & Metabolism","Total Cholesterol","Random, fasting, not done, notknown","0-11"]
["Medical History","Endocrinology & Metabolism","Result in mmol/L","numerical"]
["Medical History","Endocrinology & Metabolism","Normal range","[Free Text]"]
["Medical History","Heart","History of heart disease in childhood","Cardiomyopathy, unspecified (I42.9);other;No;Not Known","Autocompleted from Core Dataset entry"]
["Medical History","Heart","Age of onset of symptoms ","numeric age value"]
["Medical History","Heart","Age resolved (if applicable)","numerical age value "]
["Medical History","Heart","Congenital heart malformation (Q24.9)","yes, no, not known"]
["Medical History","Heart","Name of abnormality","[Free Text]"]
["Medical History","Heart","Cardiac Rhythm problems (Conduction disorder, unspecified I45.9)","Yes / No / Not Known "]
["Medical History","Heart","Name of abnormality","[Free Text]"]
["Medical History","Heart","Ischemic heart disease (I24.9)","disabled if age < 16yr; yes/no. If yes opens box for age at diagnosis "]
["Medical History","Heart","age at diagnosis","numerical age"]
["Medical History","Heart","Hypertension (I15.9)","Yes / No / Not Known "]
["Medical History","Heart","age at diagnosis","numerical age"]
["Medical History","Heart","Current blood pressure ","single measurement; ambulatory; not done; not known"]
["Medical History","Heart","Systolic value","Numerical"]
["Medical History","Heart","Diastolic value","Numerical"]
["Medical History","Heart","Date of last measurement","DD/MM/YY"]
["Medical History","Heart","ECG","Yes / No / Not Known "]
["Medical History","Heart","Date of last measurement","DD/MM/YY"]
["Medical History","Heart","result","[Free Text]"]
["Medical History","Heart","Echocardiogram","Yes / No / Not Known "]
["Medical History","Heart","Date of last measurement","DD/MM/YY"]
["Medical History","Heart","result","[Free Text]"]
["Medical History","Heart","Cardiac MRI ","Yes / No / Not Known "]
["Medical History","Heart","Date of last measurement","DD/MM/YY"]
["Medical History","Heart","result","[Free Text]"]
["Medical History","Heart","Other cardiac function test ","[Free Text]"]
["Medical History","Heart",null,"[Free Text]"]
["Medical History","Heart","date of test ","DD/MM/YY"]
["Medical History","Hepatic","History of Liver Involvement","Hepatic Failure (K72.9); Fatty (change of) liver (K76.0); other; no involvement; not known  ","Autocompleted from Core Dataset entry"]
["Medical History","Hepatic","Age of onset of symptoms ","numeric age value","Autocompleted from Core Dataset entry"]
["Medical History","Hepatic","Hepatomegaly (R16.0)","Yes / No / Not Known "]
["Medical History","Hepatic","Splenomegaly (R16.1)","Yes / No / Not Known "]
["Medical History","Hepatic","Hepatic fibrosis (K74.0)","Yes / No / Not Known "]
["Medical History","Hepatic","age at diagnosis","numerical age"]
["Medical History","Hepatic","cirrhosis (K74.6)","Yes / No / Not Known "]
["Medical History","Hepatic","age at diagnosis","numeric age value"]
["Medical History","Hepatic","cholestasis (jaundice) (K71.0)","Yes / No / Not Known "]
["Medical History","Hepatic","portal hypertension (K76.6)","Yes / No / Not Known "]
["Medical History","Hepatic","age at diagnosis","numeric age value"]
["Medical History","Hepatic","oesophageal varices (I85.0)","Yes / No / Not Known "]
["Medical History","Hepatic","age at diagnosis","numeric age value"]
["Medical History","Hepatic","Liver biopsy? ","Yes / No / Not Known "]
["Medical History","Hepatic","date of biopsy","DD/MM/YY"]
["Medical History","Hepatic","description","[Free Text]"]
["Medical History","Hepatic","Liver function tests: ALT ","Yes / No / Not Known "]
["Medical History","Hepatic","date of most recent measurement","DD/MM/YY"]
["Medical History","Hepatic","value","numeric age value","15-4000"]
["Medical History","Hepatic","units","[Free Text]"]
["Medical History","Hepatic","Liver function tests: AST","Yes / No / Not Known "]
["Medical History","Hepatic","date of most recent measurement","DD/MM/YY"]
["Medical History","Hepatic","value","numeric age value","15-4000"]
["Medical History","Hepatic","units","[Free Text]"]
["Medical History","Hepatic","Liver function tests: gamma-GT","Yes / No / Not Known "]
["Medical History","Hepatic","date of most recent measurement","DD/MM/YY"]
["Medical History","Hepatic","value","numeric age value","5-500"]
["Medical History","Hepatic","units","[Free Text]"]
["Medical History","Hepatic","Liver function tests: bilirubin","Yes / No / Not Known "]
["Medical History","Hepatic","date of most recent measurement","DD/MM/YY"]
["Medical History","Hepatic","value","numeric age value","5-400"]
["Medical History","Hepatic","units","[Free Text]"]
["Medical History","Hepatic","Liver function tests: Fibrotest","Yes / No / Not Known ","Up to 100"]
["Medical History","Hepatic","date of most recent measurement","DD/MM/YY"]
["Medical History","Hepatic","value","numeric age value"]
["Medical History","Hepatic","units","[Free Text]"]
["Medical History","Hepatic","Liver function tests: other ","Yes / No / Not Known "]
["Medical History","Hepatic","Name of test ","[Free Text]"]
["Medical History","Hepatic","Value","[Free Text]"]
["Medical History","Hepatic","Units ","[Free Text]"]
["Medical History","Hepatic","Normal range","[Free Text]"]
["Medical History","Renal & Urological","Genito-urinary Disorders","Polycystic kidneys, unspecified (Q61.3); flaccid neuropathic bladder, not elsewhere specified  (N31.2); chronic renal failure (N18.9); other;no involvement; not known. ","Autocompleted from Core Dataset entry"]
["Medical History","Renal & Urological","Age of onset of symptoms ","numeric age value","Autocompleted from Core Dataset entry"]
["Medical History","Renal & Urological","Other renal tract abnormalities","Yes / No / Not Known "]
["Medical History","Renal & Urological","Description (if yes above)","[Free Text]"]
["Medical History","Renal & Urological","Urinary difficulties?","Yes / No / Not Known "]
["Medical History","Renal & Urological","If yes, options:","Dysuria (R30); Urinary retention (R33); Enuresis (R32); Stress incontinence (N39.3); other specified urinary incontinence (including overflow, reflux, urge (N39.4))"]
["Medical History","Renal & Urological","If yes, age of onset","YY"]
["Medical History","Renal & Urological","Urinary tract infection (N39.0) in last year ?","Yes / No / Not Known "]
["Medical History","Renal & Urological","Renal biopsy?","Yes / No / Not Known "]
["Medical History","Renal & Urological","date of biopsy","DD/MM/YY"]
["Medical History","Renal & Urological","description","[Free Text]"]
["Medical History","Renal & Urological","Renal ultrasound? ","Yes / No / Not Known "]
["Medical History","Renal & Urological","date of scan","DD/MM/YY"]
["Medical History","Renal & Urological","description","[Free Text]"]
["Medical History","Renal & Urological","Urodynamic bladder function tests? ","Yes / No / Not Known "]
["Medical History","Renal & Urological","Date of test","DD/MM/YY"]
["Medical History","Renal & Urological","description","[Free Text]"]
["Medical History","Renal & Urological","Other renal function test ","[Free Text]"]
["Medical History","Renal & Urological","Result","[Free Text]"]
["Medical History","Renal & Urological","Date of test ","DD/MM/YY"]
["Medical History","Renal & Urological","Normal range","[Free Text]"]
["Medical History","Gastrointestinal","Congenital gastrointestinal tract abnormality?","Yes / No / Not Known "]
["Medical History","Gastrointestinal","type (if yes to above)","[Free Text]"]
["Medical History","Gastrointestinal","description if other","[Free Text]"]
["Medical History","Gastrointestinal","Current Constipation (K59.0)","Yes / No / Not Known "]
["Medical History","Gastrointestinal","Current Diarrhoea (K52.9)","Yes / No / Not Known "]
["Medical History","Gastrointestinal","Current Gastritis (K29.7) with or 'without' haemorrhage","Yes / No / Not Known "]
["Medical History","Gastrointestinal","Difficulty swallowing (dysphagia) (R13)","Yes / No / Not Known "]
["Medical History","Gastrointestinal","age of onset ","numeric age value"]
["Medical History","Gastrointestinal","Description of symptoms","[Free Text]"]
["Medical History","Gastrointestinal","Video-fluoroscopy test performed?  ","Yes / No / Not Known "]
["Medical History","Gastrointestinal","date","DD/MM/YY"]
["Medical History","Gastrointestinal","description of result","[Free Text]"]
["Medical History","Respiratory","recurrent lower respiratory tract Infections (J22)?","yes/no/NK; if yes then number per year; age when started"]
["Medical History","Respiratory","number per year","numeric"]
["Medical History","Respiratory","age when started","numeric age value"]
["Medical History","Respiratory","sleep apnoeas (G47.3)","Yes / No / Not Known "]
["Medical History","Respiratory","age at diagnosis","numeric age value"]
["Medical History","Respiratory","Other","Yes / No / Not Known "]
["Medical History","Respiratory","age at diagnosis","numeric age value"]
["Medical History","Respiratory","description","[Free Text]"]
["Medical History","Respiratory","Chest X-ray","Yes / No / Not Known "]
["Medical History","Respiratory","If yes, then date of most recent  ","DD/MM/YY"]
["Medical History","Respiratory","If yes, then report ","[Free Text]"]
["Medical History","Neurological","Neurological involvement ","Degenerative disease of nervous system, unspecified (G31.9); other;no ; not known","Autocompleted from Core Dataset entry"]
["Medical History","Neurological","Age of onset of symptoms ","numeric age value","Autocompleted from Core Dataset entry"]
["Medical History","Neurological","Epilepsy (G40.9)","Yes / No / Not Known "]
["Medical History","Neurological","Age of onset","numeric age value"]
["Medical History","Neurological","type","[Free Text]"]
["Medical History","Neurological","Cerebellar involvement ","Yes / No / Not Known "]
["Medical History","Neurological","Age of onset","numeric age value"]
["Medical History","Neurological","type","ataxia (G11.9); nystagmus (H55); dysarthria (R47.1); other "]
["Medical History","Neurological","if selects 'other'","[Free Text]"]
["Medical History","Neurological","Brainstem involvement ","Yes / No / Not Known "]
["Medical History","Neurological","Age of onset","numeric age value"]
["Medical History","Neurological","Type","sleep apnoeas (G47.3); dysphagia (R13); dysarthria (R47.1) "]
["Medical History","Neurological","Motor system","Yes / No / Not Known "]
["Medical History","Neurological","Age of onset","numeric age value"]
["Medical History","Neurological","Type","hemiparesis, proximal weakness, distal weakness; affecting primarily upper limbs, lower limbs or both "]
["Medical History","Neurological","Sensory system","Yes / No / Not Known "]
["Medical History","Neurological","Age of onset","numeric age value"]
["Medical History","Neurological","Type","reduced touch, reduced pin prick, reduced vibration, reduced proprioception, hemihypoesthesis (reduced sensitivity on one side of the body); glove and/or stocking hypoesthesis (reduced sensitivity in glove and stocking distribution) "]
["Medical History","Neurological","Pyramidal system ","areflexia, hyporeflexia (R29.2), Extensor plantar reflexes, muscle fasciculation, increased muscle tone (spasticity), decreased muscle tone. "]
["Medical History","Neurological","Cranial nerve involvement other than optic or auditory nerves?","Yes / No / Not Known "]
["Medical History","Neurological","Age of onset","numeric age value"]
["Medical History","Neurological","description","[Free Text]"]
["Medical History","Neurological","Autonomic system involvement? ","Yes / No / Not Known "]
["Medical History","Neurological","Age of onset","numeric age value"]
["Medical History","Neurological","type","neuropathic bladder (N31.2); dysphagia; syncope (fainting) (R55); orthostatic low blood pressure (I95.1); unstable body temperature (No ICD10 code for this); other (free field text for description)"]
["Medical History","Neurological","other description","[Free Text]"]
["Medical History","Neurological","Other symptom","Yes / No / Not Known "]
["Medical History","Neurological","Age of onset","numeric age value"]
["Medical History","Neurological","other description","[Free Text]"]
["Medical History","Neurological","Autonomic function tests undertaken?","Yes / No / Not Known "]
["Medical History","Neurological","date of test","DD/MM/YY"]
["Medical History","Neurological","description","[Free Text]"]
["Medical History","Neurological","Electromyogram test? ","Yes / No / Not Known "]
["Medical History","Neurological","date of test","DD/MM/YY"]
["Medical History","Neurological","results","[Free Text]"]
["Medical History","Neurological","Brain MRI?","Yes / No / Not Known "]
["Medical History","Neurological","date of test","DD/MM/YY"]
["Medical History","Neurological","result","atrophy of optic nerves (H47.2), atrophy of infundibulum (R90.8); atrophy of cerebral hemispheres (R90.8); atrophy of cerebellum (R90.8), atrophy of brainstem (R90.8); basal ganglia involvement (G23.9); cortical abnormalities (R90.8), white matter involvement (R90.8), absence of normal T1 signal in posterior pituitary (R90.8);"]
["Medical History","Neurological","further detail","[Free Text]"]
["Medical History","Psychological Health Involvement ","Psychological Health Involvement","Unspecified organic personality and behavioural disorder due to brain disease, damage and dysfunction (F07.9); Unspecified mental retardation (F79); no; other; not known","Autocompleted from Core Dataset entry"]
["Medical History","Psychological Health Involvement ","Age of onset of symptoms ","numeric age value","Autocompleted from Core Dataset entry"]
["Medical History","Psychological Health Involvement ","Cognitive impairment","options: mild learning difficulty (F70); moderate mental retardation (F71); severe mental retardation (F72); regression of skills; Short term memory loss; early onset dementia (F03)"]
["Medical History","Psychological Health Involvement ","age for regression and onset of dementia","numeric age value"]
["Medical History","Psychological Health Involvement ","Behaviour disorder?","Yes / No / Not Known "]
["Medical History","Psychological Health Involvement ","Age of onset","numeric age value"]
["Medical History","Psychological Health Involvement ","Description","free text"]
["Medical History","Psychological Health Involvement ","Anxiety (F06.4)","yes/no/not known; if yes then age of onset  "]
["Medical History","Psychological Health Involvement ","Age of onset","numeric age value"]
["Medical History","Psychological Health Involvement ","Depression (F32.9)","Yes / No / Not Known "]
["Medical History","Psychological Health Involvement ","Age of onset","numeric age value"]
["Medical History","Psychological Health Involvement ","Psychosis (F39)","Yes / No / Not Known "]
["Medical History","Psychological Health Involvement ","Age of onset","numeric age value"]
["Medical History","Psychological Health Involvement ","Autistic spectrum disorder (F84)","Yes / No / Not Known "]
["Medical History","Psychological Health Involvement ","Age of onset","numeric age value"]
["Medical History","Musculoskeletal","Any bone or joint problems?","Yes / No / Not Known "]
["Medical History","Musculoskeletal","Kyphoscoliosis (M41.1)","Yes / No / Not Known "]
["Medical History","Musculoskeletal","age at diagnosis","numeric age value"]
["Medical History","Musculoskeletal","Enthesitis (painful tendon insertions) (M77.9)","Yes / No / Not Known "]
["Medical History","Musculoskeletal","age at diagnosis","numeric age value"]
["Medical History","Unusual Physical Features","Polydactyly (Q69)","Yes / No / Not Known "]
["Medical History","Unusual Physical Features","Syndactyly (Q70)","Yes / No / Not Known "]
["Medical History","Unusual Physical Features","Deep set eyes","Yes / No / Not Known "]
["Medical History","Unusual Physical Features","Buffalo hump","Yes / No / Not Known "]
["Medical History","Unusual Physical Features","dental abnormalities","Yes / No / Not Known "]
["Medical History","Unusual Physical Features","high arched palate ","Yes / No / Not Known "]
["Medical History","Unusual Physical Features","thin/ falling out  hair","Yes / No / Not Known "]
["Medical History","Unusual Physical Features","Other unusual physical features","Yes / No / Not Known "]
["Medical History","Unusual Physical Features","If yes, then:","[Free Text]"]
["Medical History","Molecular Diagnosis","Molecular diagnosis made?","Yes / No / Not Known ","Autocompleted from Core Dataset entry"]
["Medical History","Molecular Diagnosis","Gene ","options: ALMS1, WFS1, CISD2, BBS1, BBS2, BBS3, BBS4, BBS5, MKKS, BBS7, TTC8, BBS9, BBS10, TRIM32, BBS12, MKS1, CEP290, SLC19A2, EIF2AK3, mitochondrial gene (free text to describe), Other (free field to describe)","Autocompleted from Core Dataset entry"]
["Medical History","Molecular Diagnosis","Allele 1","Nucleotide change (alphanumeric), amino acid change (alphanumeric), description (nonsense, missense, frameshift, insertion, deletion, splice site, promoter, other (free field to describe) ","Autocompleted from Core Dataset entry"]
["Medical History","Molecular Diagnosis","Allele 2","Nucleotide change (alphanumeric), amino acid change (alphanumeric), description (nonsense, missense, frameshift, insertion, deletion, splice site, promoter, other (free field to describe) ","Autocompleted from Core Dataset entry"]
["Medical History","Molecular Diagnosis","Additional change (for tri-allelic inheritance)","Nucleotide change (alphanumeric), amino acid change (alphanumeric), description (nonsense, missense, frameshift, insertion, deletion, splice site, promoter, other (free field to describe) ","Autocompleted from Core Dataset entry"]
["Medical History","Tissue or DNA samples stored",null,"yes/no; if yes, date of storage, then options DNA, lymphocytes, whole blood, urine, skin, other (free field text to describe) "]