Chromosomal abnormalities, not elsewhere classified

DOID EFO MESH SNOMED PheWeb

Klinefelter's syndrome: A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.

Endpoint definition

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Name	Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED
Long name	Chromosomal abnormalities, not elsewhere classified
Include	Q17_DOWNS_SYNDR, Q17_EDWAR_SYNDR_PATAU_SYNDR, Q17_OTHER_TRISOMI_PARTIAL_TRISOMI_AUTOSOMES_NOT_ELSEW_CLASSIFIED, Q17_MONOSOMI_DELET_AUTOSOMES_NOT_ELSEW_CLASSIFIED, Q17_BALANC_REARR_STRUCTURAL_MARKERS_NOT_ELSEW_CLASSIFIED, Q17_TURNE_SYNDR, Q17_OTHER_SEX_CHROMOSOME_ABNORMALITI_FEMALE_PHENOT_NOT_ELSEW_CLASSIFIED, Q17_OTHER_SEX_CHROMOSOME_ABNORMALITI_MALE_PHENOT_NOT_ELSEW_CLASSIFIED, Q17_OTHER_CHROMOSOME_ABNORMALITI_NOT_ELSEW_CLASSIFIED
Level in the ICD-hierarchy	2
First defined in version	DF4
Latin name	Abnormitates chromosomales non alibi classificatae

Summary Statistics

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Key figures

	All	Female	Male
Number of individuals	213	109	104
Unadjusted prevalence (%)	0.10	0.09	0.11
Mean age at first event (years)	26.41	27.87	24.88
Case fatality at 5-years (%)	2.82	2.75	2.88

Longitudinal metrics

	All	Female	Male
Median nb. of events per indiv.	2.0	1.0	3.0
Recurrence at 6 months (%)	40.38	33.94	47.12

Survival analyses between endpoints

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Plot

before Chromosomal abnormalities, not elsewhere classified
after Chromosomal abnormalities, not elsewhere classified

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Table

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Drugs most likely to be purchased after Chromosomal abnormalities, not elsewhere classified

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