| Source | Code | Name | Case count | Share of cases (%) |
|---|---|---|---|---|
| OUTPAT | OUTPAT_ICD10(Q874) | Marfan's syndrome | 188 | |
| OUTPAT | OUTPAT_ICD10(Q8788) | Other specified congenital malformation syndromes, not elsewhere classified | 114 | |
| INPAT | INPAT_ICD10(Q874) | Marfan's syndrome | 85 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q874) | Marfan's syndrome. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 77 | |
| OUTPAT | OUTPAT_ICD10(Q8709) | Other congenital malformations that mainly affect the appearance of the face | 49 | |
| OUTPAT | OUTPAT_ICD10(Q8780) | Alport syndrome | 45 | |
| INPAT | INPAT_ICD10(Q8788) | Other specified congenital malformation syndromes, not elsewhere classified | 43 | |
| OUTPAT | OUTPAT_ICD10(Q8714) | Noonan's syndrome | 39 | |
| OUTPAT | OUTPAT_ICD10(Q8721) | Klippel-Trénaunay-Weber syndrome | 34 | |
| INPAT | INPAT_ICD10(Q8780) | Alport syndrome | 29 | |
| OUTPAT | OUTPAT_ICD10(Q8706) | Velocardiofacial syndrome | 24 | |
| INPAT | INPAT_ICD10(Q8714) | Noonan's syndrome | 23 | |
| OUTPAT | OUTPAT_ICD10(Q8719) | Congenital malformation syndromes predominantly associated with short stature | 22 | |
| OUTPAT | OUTPAT_ICD10(Q8716) | Mulibrey nanism | 19 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q8714) | Noonan's syndrome. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 18 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q8788) | Other specified congenital malformation syndromes, not elsewhere classified. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 18 | |
| OUTPAT | OUTPAT_ICD10(Q878) | Other specified congenital malformation syndromes, not elsewhere classified | 17 | |
| INPAT | INPAT_ICD10(Q8706) | Velocardiofacial syndrome | 16 | |
| OUTPAT | OUTPAT_ICD10(Q8730) | Syndrome Beckwith-Wiedemann | 16 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q8780) | Alport syndrome. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 16 | |
| INPAT | INPAT_ICD10(Q8709) | Other congenital malformations that mainly affect the appearance of the face | 15 | |
| INPAT | INPAT_ICD10(Q8721) | Klippel-Trénaunay-Weber syndrome | 15 | |
| OUTPAT | OUTPAT_ICD10(Q8726) | VATER association | 15 | |
| INPAT | INPAT_ICD10(Q8716) | Mulibrey nanism | 14 | |
| INPAT | INPAT_ICD10(Q8726) | VATER association | 14 | |
| OUTPAT | OUTPAT_ICD10(Q8703) | Syndrome Goldenhar | 14 | |
| INPAT | INPAT_ICD10(Q8719) | Congenital malformation syndromes predominantly associated with short stature | 13 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q8721) | Klippel-Trénaunay-Weber syndrome. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 13 | |
| OUTPAT | OUTPAT_ICD10(Q870) | Congenital malformation syndrome that mainly affects the appearance of the face | 12 | |
| OUTPAT | OUTPAT_ICD10(Q8704) | Syndrome Robin | 12 | |
| OUTPAT | OUTPAT_ICD10(Q8715) | Prader-Willi syndrome | 12 | |
| OUTPAT | OUTPAT_ICD10(Q8784) | Williams syndrome | 12 | |
| OUTPAT | OUTPAT_ICD10(Q871) | Congenital malformation syndromes predominantly associated with short stature | 11 | |
| OUTPAT | OUTPAT_ICD10(Q8738) | Syndrome Weaver | 11 | |
| OUTPAT | OUTPAT_ICD10(Q875) | Other congenital malformation syndromes with other skeletal changes | 11 | |
| OUTPAT | OUTPAT_ICD10(Q8731) | Syndrome Sotos | 10 | |
| INPAT | INPAT_ICD10(Q8703) | Syndrome Goldenhar | 9 | |
| INPAT | INPAT_ICD10(Q8784) | Williams syndrome | 9 | |
| OUTPAT | OUTPAT_ICD10(Q8728) | Congenital malformation syndromes predominantly involving limbs | 9 | |
| OUTPAT | OUTPAT_ICD10(Q8782) | Zellweger syndrome | 9 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q8704) | Syndrome Robin. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 9 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q8709) | Other congenital malformations that mainly affect the appearance of the face. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 9 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q8716) | Mulibrey nanism. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 9 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q8784) | Williams syndrome. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 9 | |
| INPAT | INPAT_ICD10(Q8704) | Syndrome Robin | 8 | |
| INPAT | INPAT_ICD10(Q8730) | Syndrome Beckwith-Wiedemann | 8 | |
| OUTPAT | OUTPAT_ICD10(Q8710) | Aarskog syndrome | 8 | |
| OUTPAT | OUTPAT_ICD10(Q8727) | CHARGE association | 8 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q8706) | Velocardiofacial syndrome. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 8 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q8710) | Aarskog syndrome. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 8 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q8726) | VATER association. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 8 | |
| DEATH | DEATH_ICD10(Q874) | Marfan's syndrome | 7 | |
| INPAT | INPAT_ICD10(Q8715) | Prader-Willi syndrome | 7 | |
| INPAT | INPAT_ICD10(Q8727) | CHARGE association | 7 | |
| INPAT | INPAT_ICD10(Q8728) | Congenital malformation syndromes predominantly involving limbs | 6 | |
| INPAT | INPAT_ICD10(Q875) | Other congenital malformation syndromes with other skeletal changes | 6 | |
| OUTPAT | OUTPAT_ICD10(Q8717) | Russel-Silver syndrome | 6 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q8722) | Nail-patella syndrome. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 6 | |
| INPAT | INPAT_ICD10(Q8731) | Syndrome Sotos | 5 | |
| OUTPAT | OUTPAT_ICD10(Q8700) | Syndrome Treacher Collins | 5 | |
| OUTPAT | OUTPAT_ICD10(Q8722) | Nail-patella syndrome | 5 | |
| OUTPAT | OUTPAT_ICD10(Q8723) | Rubinstein-Taybi syndrome | 5 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q8715) | Prader-Willi syndrome. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 5 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q8719) | Congenital malformation syndromes predominantly associated with short stature. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 5 | |
| PRIM_OUT | PRIM_OUT_NOT_USED_ICD10(Q8727) | CHARGE association. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! | 5 |