Balanced autosomal rearrangement in abnormal individual
Q97.2 Mosaicism, lines with various numbers of X chromosomes
Mosaicism, lines with various numbers of X chromosomes
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual
Balanced sex/autosomal rearrangement in abnormal individual
Q97.3 Female with 46, XY karyotype
Female with 46, XY karyotype
Q76.8 Other congenital malformations of bony thorax
Other congenital malformations of bony thorax
Q78.2 Osteopetrosis Notes: Albers-Schönberg syndrome ; Osteosclerosis NOS
Osteopetrosis Notes: Albers-Schönberg syndrome ; Osteosclerosis NOS
Q79.6 Ehlers-Danlos syndromes Notes: Classical EDS (cEDS) ; Hypermobile EDS (hEDS) ; Vascular EDS (vEDS)
Ehlers-Danlos syndromes Notes: Classical EDS (cEDS) ; Hypermobile EDS (hEDS) ; Vascular EDS (vEDS)
Q81 Epidermolysis bullosa Notes: Herlitz’ syndrome ; Cockayne’s syndrome (Q87.19)
Epidermolysis bullosa Notes: Herlitz' syndrome ; Cockayne's syndrome (Q87.19)