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

Heart/great vessels

Abnormal heart morphology

HP:0001627

Yes No Not investigated

Abnormal cardiac septum morphology

HP:0001671

Yes No Not investigated

Atrial septal defect

HP:0001631

Yes No Not investigated

Ventricular septal defect

HP:0001629

Yes No Not investigated

Atrioventricular canal defect

HP:0006695

Yes No Not investigated

Tetralogy of Fallot

HP:0001636

Yes No Not investigated

Arrhythmia

HP:0011675

Yes No Not investigated

Cardiomyopathy

HP:0001638

Yes No Not investigated

Hypertension

HP:0000822

Yes No Not investigated

Pulmonic stenosis

HP:0001642

Yes No Not investigated

Subvalvular aortic stenosis

HP:0001682

Yes No Not investigated

Supravalvulat aortic stenosis

HP:0004381

Yes No Not investigated

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

Read more at hpo.jax.org