Karyotype 46, X with abnormal sex chromosome, except iso (Xq) Notes: Karyotype 46, X with abnormal sex chromosome, except isochromosome Xq
Q98.4 Klinefelter syndrome, unspecified
Klinefelter syndrome, unspecified
Q96.3 Mosaicism, 45, X/46, XX or XY
Mosaicism, 45, X/46, XX or XY
Q77.5 Diastrophic dysplasia
Diastrophic dysplasia
Q79.0 Congenital diaphragmatic hernia Notes: congenital hiatus hernia (Q40.1)
Congenital diaphragmatic hernia Notes: congenital hiatus hernia (Q40.1)
Q80 Congenital ichthyosis Notes: Collodion baby ; Refsum’s disease (G60.1)
Congenital ichthyosis Notes: Collodion baby ; Refsum's disease (G60.1)
Q82.1 Xeroderma pigmentosum
Xeroderma pigmentosum
