UDNI tip2toe Questionnaire

UDNI tip2toe Questionnaire Help

Connecting to API..

1. Overview 2. Individual 3. Photographs 4. Pedigree 5. Family history 6. Growth Chart 7. Radiology - imaging 8. Previous genetic investigations 9. Other Laboratory results 10. Parents summary 11. Clinical findings 12. Pregnancy 13. Delivery 14. Neonatal period complications 15. Growth at birth 16. Post-natal growth 17. Facial morphology 18. Eyes 19. Mouth/teeth 20. Nose 21. Ears 22. Central nervous system 23. Cognition 24. Behavioral abnormality 25. Speech 26. Seizures 27. Muscles 28. Skeleton 29. Head and neck 30. Trunk 31. Upper limbs 32. Hands, fingers, and thumbs 33. Lower limbs 34. Feet/toes 35. Airways 36. Heart/great vessels 37. Kidneys and urinary tract 38. Genitalia 39. Liver and spleen 40. Skin 41. Hair/nails 42. Endocrine/metabolic 43. Connective tissue 44. Immune system/blood 45. Gastrointestinal 46. Cancer/malignancy /benign tumor 47. Summary

Pregnancy

Oligohydramnios

HP:0001562

Yes No Not investigated

Polyhydramnios

HP:0001561

Yes No Not investigated

Abnormal maternal serum screening

HP:0011436

Yes No Not investigated

Abnormal fetal morphology

HP:0034058

Yes No Not investigated

Fetal ultrasound soft marker

HP:0011425

Yes No Not investigated

Abnormal fetal physiology

HP:0034059

Yes No Not investigated

Intrauterine growth retardation

HP:0001511

Yes No Not investigated

Fetal overgrowth

HP:0003517

Yes No Not investigated

Decreased fetal movement

HP:0001558

Yes No Not investigated

Increased fetal movement

HP:0010519

Yes No Not investigated

Abnormalities of placenta or umbilical cord

HP:0001194

Yes No Not investigated

Prenatal maternal (health) abnormality (Describe in Clinical summary above)

HP:0002686

Yes No Not investigated

Maternal first trimester fever

HP:0030246

Yes No Not investigated

Maternal diabetes

HP:0009800

Yes No Not investigated

Maternal autoimmune disease (Describe in Clinical summary above)

HP:0011437

Yes No Not investigated

Maternal seizure (during pregnancy)

HP:0100622

Yes No Not investigated

Maternal teratogenic exposure (Describe in Clinical summary above)

HP:0011438

Yes No Not investigated

Toxemia of pregnancy

HP:0100603

Yes No Not investigated

Recurrent spontaneous abortion in previous pregnancies

HP:0200067

Yes No Not investigated

Other. Describe in Clinical summary and/or add HPO terms here

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