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

Airways

Abnormality of the nasal cavity

HP:0010640

Yes No Not investigated

Abnormal tracheal morphology

HP:0002778

Yes No Not investigated

Abnormal lung morphology

HP:0002088

Yes No Not investigated

Abnormal larynx morphology

HP:0025423

Yes No Not investigated

Airway obstruction

HP:0006536

Yes No Not investigated

Breathing dysregulation

HP:0005957

Yes No Not investigated

Dyspnea

HP:0002094

Yes No Not investigated

Asthma

HP:0002099

Yes No Not investigated

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

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