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Concept information

disease > genetic disease > hereditary disease > Keutel syndrome
... > disease > cardiovascular disease > heart disease > valvular heart disease > pulmonary valve disease > pulmonary stenosis > Keutel syndrome
disease > stomatology > dysmorphic facies > Keutel syndrome
... > disease > congenital disease > malformation > dysmorphia > dysmorphic facies > Keutel syndrome
disease > complex syndrome > Keutel syndrome
disease > rare disease > Keutel syndrome
disease > congenital disease > malformation > brachyphalangy > Keutel syndrome
disease > diseases of the osteoarticular system > brachyphalangy > Keutel syndrome
disease > disease of the hand > brachyphalangy > Keutel syndrome

Terme préférentiel

Keutel syndrome  

Définition

  • Keutel syndrome (KS) is a rare autosomal recessive genetic disorder characterized by abnormal diffuse cartilage calcification, hypoplasia of the mid-face, peripheral pulmonary stenosis, hearing loss, short distal phalanges (tips) of the fingers and mild mental retardation. (Wikipedia)

Concept générique

Traductions

URI

http://data.loterre.fr/ark:/67375/VH8-KN1MVJP1-7

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