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Generalised skeletal defect
Musculo-skeletal defect

Translation of "generalised skeletal defect " (English → French) :

generalised skeletal defect

atteinte générale du squelette
IATE - Health
IATE - Health


musculo-skeletal defect

défaut musculo-squelettique
Musculoskeletal System
Appareil locomoteur (Médecine)


Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterised by severe generalised osteosclerosis. The disease is very rare and only five cases (four males and one female) have been reported in the literature so far. Pyknoachondrogen

pycnoachondrogénèse
SNOMEDCT-BE (four males and one female) have been reported in the literature so far. Pyknoachondrogen / 719258003
SNOMEDCT-BE (disorder) / 719258003


Omodysplasia is a rare skeletal dysplasia characterised by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalised form (also referred to as micromelic dysplasia with disloca

omodysplasie
SNOMEDCT-BE / 725164008
SNOMEDCT-BE (disorder) / 725164008


A mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain. The disease has characteristics of severe hypertrophic cardi

déficit combiné de la phosphorylation oxydative type 8
SNOMEDCT-BE (disorder) / 733600007
SNOMEDCT-BE (disorder) / 733600007




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'generalised skeletal defect'

Date index:2023-08-16 -

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