| Source | Code | Name | Case count | Share of cases (%) |
|---|---|---|---|---|
| OUTPAT | OUTPAT_ICD10(Q874) | Marfan's syndrome | 196 | |
| OUTPAT | OUTPAT_ICD10(Q8788) | Other specified congenital malformation syndromes, not elsewhere classified | 122 | |
| PRIM_OUT | PRIM_OUT_ICD10(Q874) | Marfan's syndrome | 94 | |
| INPAT | INPAT_ICD10(Q874) | Marfan's syndrome | 89 | |
| OUTPAT | OUTPAT_ICD10(Q8780) | Alport syndrome | 52 | |
| OUTPAT | OUTPAT_ICD10(Q8709) | Other congenital malformations that mainly affect the appearance of the face | 51 | |
| INPAT | INPAT_ICD10(Q8788) | Other specified congenital malformation syndromes, not elsewhere classified | 47 | |
| OUTPAT | OUTPAT_ICD10(Q8714) | Noonan's syndrome | 41 | |
| OUTPAT | OUTPAT_ICD10(Q8721) | Klippel-Trénaunay-Weber syndrome | 35 | |
| INPAT | INPAT_ICD10(Q8780) | Alport syndrome | 32 | |
| INPAT | INPAT_ICD10(Q8714) | Noonan's syndrome | 27 | |
| OUTPAT | OUTPAT_ICD10(Q860) | Fetal alcohol syndrome (dysmorphic) | 27 | |
| PRIM_OUT | PRIM_OUT_ICD10(Q8788) | Other specified congenital malformation syndromes, not elsewhere classified | 26 | |
| OUTPAT | OUTPAT_ICD10(Q8706) | Velocardiofacial syndrome | 24 | |
| OUTPAT | OUTPAT_ICD10(Q8719) | Congenital malformation syndromes predominantly associated with short stature | 24 | |
| PRIM_OUT | PRIM_OUT_ICD10(Q8714) | Noonan's syndrome | 21 | |
| INPAT | INPAT_ICD10(Q860) | Fetal alcohol syndrome (dysmorphic) | 19 | |
| OUTPAT | OUTPAT_ICD10(Q8716) | Mulibrey nanism | 19 | |
| OUTPAT | OUTPAT_ICD10(Q878) | Other specified congenital malformation syndromes, not elsewhere classified | 18 | |
| PRIM_OUT | PRIM_OUT_ICD10(Q8780) | Alport syndrome | 18 | |
| INPAT | INPAT_ICD10(Q8706) | Velocardiofacial syndrome | 16 | |
| INPAT | INPAT_ICD10(Q8709) | Other congenital malformations that mainly affect the appearance of the face | 16 | |
| OUTPAT | OUTPAT_ICD10(Q8730) | Syndrome Beckwith-Wiedemann | 16 | |
| PRIM_OUT | PRIM_OUT_ICD10(Q8721) | Klippel-Trénaunay-Weber syndrome | 16 | |
| INPAT | INPAT_ICD10(Q8721) | Klippel-Trénaunay-Weber syndrome | 15 | |
| OUTPAT | OUTPAT_ICD10(Q8726) | VATER association | 15 | |
| OUTPAT | OUTPAT_ICD10(Q8738) | Syndrome Weaver | 15 | |
| INPAT | INPAT_ICD10(Q8716) | Mulibrey nanism | 14 | |
| INPAT | INPAT_ICD10(Q8719) | Congenital malformation syndromes predominantly associated with short stature | 14 | |
| INPAT | INPAT_ICD10(Q8726) | VATER association | 14 | |
| OUTPAT | OUTPAT_ICD10(Q8703) | Syndrome Goldenhar | 14 | |
| OUTPAT | OUTPAT_ICD10(Q8715) | Prader-Willi syndrome | 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(Q8784) | Williams syndrome | 12 | |
| PRIM_OUT | PRIM_OUT_ICD10(Q860) | Fetal alcohol syndrome (dysmorphic) | 12 | |
| PRIM_OUT | PRIM_OUT_ICD10(Q8706) | Velocardiofacial syndrome | 12 | |
| PRIM_OUT | PRIM_OUT_ICD10(Q8709) | Other congenital malformations that mainly affect the appearance of the face | 12 | |
| OUTPAT | OUTPAT_ICD10(Q871) | Congenital malformation syndromes predominantly associated with short stature | 11 | |
| OUTPAT | OUTPAT_ICD10(Q875) | Other congenital malformation syndromes with other skeletal changes | 11 | |
| DEATH | DEATH_ICD10(Q874) | Marfan's syndrome | 10 | |
| INPAT | INPAT_ICD10(Q8703) | Syndrome Goldenhar | 10 | |
| INPAT | INPAT_ICD10(Q8784) | Williams syndrome | 10 | |
| OUTPAT | OUTPAT_ICD10(Q8728) | Congenital malformation syndromes predominantly involving limbs | 10 | |
| OUTPAT | OUTPAT_ICD10(Q8731) | Syndrome Sotos | 10 | |
| PRIM_OUT | PRIM_OUT_ICD10(Q8716) | Mulibrey nanism | 10 | |
| PRIM_OUT | PRIM_OUT_ICD10(Q8784) | Williams syndrome | 10 | |
| OUTPAT | OUTPAT_ICD10(Q3808) | Congenital malformations of lips, not elsewhere classified | 9 | |
| OUTPAT | OUTPAT_ICD10(Q8782) | Zellweger syndrome | 9 | |
| PRIM_OUT | PRIM_OUT_ICD10(Q8704) | Syndrome Robin | 9 | |
| INPAT | INPAT_ICD10(Q8704) | Syndrome Robin | 8 | |
| INPAT | INPAT_ICD10(Q8715) | Prader-Willi syndrome | 8 | |
| INPAT | INPAT_ICD10(Q8730) | Syndrome Beckwith-Wiedemann | 8 | |
| OUTPAT | OUTPAT_ICD10(Q8710) | Aarskog syndrome | 8 | |
| OUTPAT | OUTPAT_ICD10(Q8727) | CHARGE association | 8 | |
| OUTPAT | OUTPAT_ICD10(Q910) | Trisomy 18, meiotic nondisjunction | 8 | |
| PRIM_OUT | PRIM_OUT_ICD10(Q8710) | Aarskog syndrome | 8 | |
| PRIM_OUT | PRIM_OUT_ICD10(Q8719) | Congenital malformation syndromes predominantly associated with short stature | 8 | |
| PRIM_OUT | PRIM_OUT_ICD10(Q8726) | VATER association | 8 | |
| INPAT | INPAT_ICD10(Q8727) | CHARGE association | 7 | |
| INPAT | INPAT_ICD10(Q875) | Other congenital malformation syndromes with other skeletal changes | 7 | |
| DEATH | DEATH_ICD10(Q871) | Congenital malformation syndromes predominantly associated with short stature | 6 | |
| INPAT | INPAT_ICD10(Q8728) | Congenital malformation syndromes predominantly involving limbs | 6 | |
| OUTPAT | OUTPAT_ICD10(Q8717) | Russel-Silver syndrome | 6 | |
| OUTPAT | OUTPAT_ICD10(Q911) | Trisomy 18, mosaicism (mitotic nondisjunction) | 6 | |
| PRIM_OUT | PRIM_OUT_ICD10(Q8703) | Syndrome Goldenhar | 6 | |
| PRIM_OUT | PRIM_OUT_ICD10(Q8722) | Nail-patella syndrome | 6 | |
| PRIM_OUT | PRIM_OUT_ICD10(Q8727) | CHARGE association | 6 | |
| DEATH | DEATH_ICD10(Q878) | Other specified congenital malformation syndromes, not elsewhere classified | 5 | |
| INPAT | INPAT_ICD10(Q8731) | Syndrome Sotos | 5 | |
| INPAT | INPAT_ICD10(Q913) | Edwards syndrome, unspecified | 5 | |
| OUTPAT | OUTPAT_ICD10(Q862) | Dysmorphism due to warfarin | 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 | |
| OUTPAT | OUTPAT_ICD10(Q912) | Trisomy 18, translocation | 5 | |
| PRIM_OUT | PRIM_OUT_ICD10(Q8715) | Prader-Willi syndrome | 5 | |
| PRIM_OUT | PRIM_OUT_ICD10(Q875) | Other congenital malformation syndromes with other skeletal changes | 5 |