Source Code Name Case count Share of cases (%)
OUTPAT OUTPAT_ICD10(Q874) Marfan's syndrome 127
OUTPAT OUTPAT_ICD10(Q8788) Other specified congenital malformation syndromes, not elsewhere classified 80
INPAT INPAT_ICD10(Q874) Marfan's syndrome 56
PRIM_OUT PRIM_OUT_NOT_USED_ICD10(Q874) Marfan's syndrome. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! 44
OUTPAT OUTPAT_ICD10(Q8709) Other congenital malformations that mainly affect the appearance of the face 36
INPAT INPAT_ICD10(Q8788) Other specified congenital malformation syndromes, not elsewhere classified 31
OUTPAT OUTPAT_ICD10(Q8714) Noonan's syndrome 28
OUTPAT OUTPAT_ICD10(Q8780) Alport syndrome 28
OUTPAT OUTPAT_ICD10(Q8721) Klippel-Trénaunay-Weber syndrome 24
INPAT INPAT_ICD10(Q8780) Alport syndrome 21
OUTPAT OUTPAT_ICD10(Q8706) Velocardiofacial syndrome 18
INPAT INPAT_ICD10(Q8714) Noonan's syndrome 17
OUTPAT OUTPAT_ICD10(Q8719) Congenital malformation syndromes predominantly associated with short stature 16
OUTPAT OUTPAT_ICD10(Q878) Other specified congenital malformation syndromes, not elsewhere classified 14
INPAT INPAT_ICD10(Q8709) Other congenital malformations that mainly affect the appearance of the face 13
INPAT INPAT_ICD10(Q8721) Klippel-Trénaunay-Weber syndrome 12
OUTPAT OUTPAT_ICD10(Q8730) Syndrome Beckwith-Wiedemann 12
PRIM_OUT PRIM_OUT_NOT_USED_ICD10(Q8780) Alport syndrome. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! 12
INPAT INPAT_ICD10(Q8719) Congenital malformation syndromes predominantly associated with short stature 11
OUTPAT OUTPAT_ICD10(Q8715) Prader-Willi syndrome 11
OUTPAT OUTPAT_ICD10(Q8716) Mulibrey nanism 11
PRIM_OUT PRIM_OUT_NOT_USED_ICD10(Q8714) Noonan's syndrome. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! 11
INPAT INPAT_ICD10(Q8706) Velocardiofacial syndrome 10
INPAT INPAT_ICD10(Q8716) Mulibrey nanism 10
INPAT INPAT_ICD10(Q8726) VATER association 10
OUTPAT OUTPAT_ICD10(Q870) Congenital malformation syndrome that mainly affects the appearance of the face 10
OUTPAT OUTPAT_ICD10(Q8726) VATER association 10
OUTPAT OUTPAT_ICD10(Q8703) Syndrome Goldenhar 9
OUTPAT OUTPAT_ICD10(Q8704) Syndrome Robin 9
OUTPAT OUTPAT_ICD10(Q871) Congenital malformation syndromes predominantly associated with short stature 8
OUTPAT OUTPAT_ICD10(Q8731) Syndrome Sotos 8
OUTPAT OUTPAT_ICD10(Q8784) Williams syndrome 8
INPAT INPAT_ICD10(Q8715) Prader-Willi syndrome 7
INPAT INPAT_ICD10(Q8730) Syndrome Beckwith-Wiedemann 7
INPAT INPAT_ICD10(Q8784) Williams syndrome 7
OUTPAT OUTPAT_ICD10(Q8710) Aarskog syndrome 7
OUTPAT OUTPAT_ICD10(Q8728) Congenital malformation syndromes predominantly involving limbs 7
OUTPAT OUTPAT_ICD10(Q8738) Syndrome Weaver 7
OUTPAT OUTPAT_ICD10(Q875) Other congenital malformation syndromes with other skeletal changes 7
OUTPAT OUTPAT_ICD10(Q8782) Zellweger syndrome 7
PRIM_OUT PRIM_OUT_NOT_USED_ICD10(Q8704) Syndrome Robin. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! 7
PRIM_OUT PRIM_OUT_NOT_USED_ICD10(Q8710) Aarskog syndrome. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! 7
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! 7
INPAT INPAT_ICD10(Q8703) Syndrome Goldenhar 6
INPAT INPAT_ICD10(Q8704) Syndrome Robin 6
PRIM_OUT PRIM_OUT_NOT_USED_ICD10(Q8706) Velocardiofacial syndrome. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! 6
PRIM_OUT PRIM_OUT_NOT_USED_ICD10(Q8716) Mulibrey nanism. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! 6
PRIM_OUT PRIM_OUT_NOT_USED_ICD10(Q8721) Klippel-Trénaunay-Weber syndrome. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! 6
DEATH DEATH_ICD10(Q874) Marfan's syndrome 5
INPAT INPAT_ICD10(Q8728) Congenital malformation syndromes predominantly involving limbs 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(Q8784) Williams syndrome. Not used in endpoint definition. POSSIBLY INACCURATE IN COMPLEX ENDPOINTS! 5