Down syndrome Notes: Trisomy 21 NOS ; code(s) to identify any associated physical conditions and degree of intellectual disabilities (F70-F79)
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
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
Q79.62 Hypermobile Ehlers-Danlos syndrome Notes: Hypermobile EDS (hEDS)
Hypermobile Ehlers-Danlos syndrome Notes: Hypermobile EDS (hEDS)
Q81.2 Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica
