Other trisomies and partial trisomies of the autosomes, not elsewhere classified Notes: Less than whole arm duplicated ; Whole arm or more duplicated ; Partial trisomy due to unbalanced translocations ...
Q93.4 Deletion of short arm of chromosome 5 Notes: Cri-du-chat syndrome
Deletion of short arm of chromosome 5 Notes: Cri-du-chat syndrome
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)
Q83.0 Congenital absence of breast with absent nipple
Congenital absence of breast with absent nipple
Q85 Phakomatoses, not elsewhere classified Notes: Von Recklinghausen disease ; Acoustic neurofibromatosis ; Bourneville’s di…
Phakomatoses, not elsewhere classified Notes: Von Recklinghausen disease ; Acoustic neurofibromatosis ; Bourneville's disease ; Epiloia ; PHTS ; PTEN hamartoma tumor syndrome ; PTEN related Cowden syn ...