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
Q92.0 Whole chromosome trisomy, nonmosaicism (meiotic nondisjunction)
Whole chromosome trisomy, nonmosaicism (meiotic nondisjunction)
Q93.5 Other deletions of part of a chromosome
Other deletions of part of a chromosome
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine Notes: Hypochondrogenesis ; Asphyxiating thoraci…
Osteochondrodysplasia with defects of growth of tubular bones and spine Notes: Hypochondrogenesis ; Asphyxiating thoracic dysplasia ; Hypochondroplasia ; Osteosclerosis congenita ; Ellis-van Creveld ...
Q78.4 Enchondromatosis Notes: Maffucci’s syndrome ; Ollier’s disease
Enchondromatosis Notes: Maffucci's syndrome ; Ollier's disease