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

Trunk

Abnormal thorax morphology

HP:0000765

Yes No Not investigated

Abnormality of the vertebral column

HP:0000925

Yes No Not investigated

Scoliosis

HP:0002650

Yes No Not investigated

Abnormal hip bone morphology

HP:0003272

Yes No Not investigated

Hip dislocation

HP:0002827

Yes No Not investigated

Abnormal scapula morphology

HP:0000782

Yes No Not investigated

Abnormal shoulder morphology

HP:0003043

Yes No Not investigated

Abnormal sternum morphology

HP:0000766

Yes No Not investigated

Abnormal rib cage morphology

HP:0001547

Yes No Not investigated

Abnormal clavicle morphology

HP:0000889

Yes No Not investigated

Abnormal pelvis bone morpholgy

HP:0040163

Yes No Not investigated

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

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