Balanced sex/autosomal rearrangement in abnormal individual
Q97.3 Female with 46, XY karyotype
Female with 46, XY karyotype
Q95.5 Individual with autosomal fragile site
Individual with autosomal fragile site
Q97.8 Other specified sex chromosome abnormalities, female phenotype
Other specified sex chromosome abnormalities, female phenotype
Q76.9 Congenital malformation of bony thorax, unspecified
Congenital malformation of bony thorax, unspecified
Q78.3 Progressive diaphyseal dysplasia Notes: Camurati-Engelmann syndrome
Progressive diaphyseal dysplasia Notes: Camurati-Engelmann syndrome
Q79.60 Ehlers-Danlos syndrome, unspecified
Ehlers-Danlos syndrome, unspecified
Q81.0 Epidermolysis bullosa simplex Notes: Cockayne’s syndrome (Q87.19)
Epidermolysis bullosa simplex Notes: Cockayne's syndrome (Q87.19)

