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
Q79.61 Classical Ehlers-Danlos syndrome Notes: Classical EDS (cEDS)
Classical Ehlers-Danlos syndrome Notes: Classical EDS (cEDS)
Q81.1 Epidermolysis bullosa letalis Notes: Herlitz’ syndrome
Epidermolysis bullosa letalis Notes: Herlitz' syndrome
Q83.1 Accessory breast Notes: Supernumerary breast
Accessory breast Notes: Supernumerary breast
Q85.0 Neurofibromatosis (nonmalignant) Notes: Von Recklinghausen disease ; Acoustic neurofibromatosis
Neurofibromatosis (nonmalignant) Notes: Von Recklinghausen disease ; Acoustic neurofibromatosis