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 ...
Q86.1 Fetal hydantoin syndrome Notes: Meadow’s syndrome
Fetal hydantoin syndrome Notes: Meadow's syndrome
Q87.43 Marfan’s syndrome with skeletal manifestation
Marfan's syndrome with skeletal manifestation
Q89.9 Congenital malformation, unspecified Notes: Congenital anomaly NOS ; Congenital deformity NOS
Congenital malformation, unspecified Notes: Congenital anomaly NOS ; Congenital deformity NOS