Individual with autosomal fragile site
Q97.8 Other specified sex chromosome abnormalities, female phenotype
Other specified sex chromosome abnormalities, female phenotype
Q95.8 Other balanced rearrangements and structural markers
Other balanced rearrangements and structural markers
Q97.9 Sex chromosome abnormality, female phenotype, unspecified
Sex chromosome abnormality, female phenotype, unspecified
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
