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Abnormality of development
Aortic valve dysplasia
Dysplasia

Translation of "micromelic dysplasia " (English → French) :

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
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omodysplasie
SNOMEDCT-BE / 725164008
SNOMEDCT-BE (disorder) / 725164008
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An extremely rare lethal form of chondrodysplasia with characteristics of severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasa
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chondrodysplasie létale autosomique récessive
SNOMEDCT-BE (disproportionately large skull, frontal prominence, slightly flattened nasa / 719404009
SNOMEDCT-BE (disorder) / 719404009
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A rare genetic immuno-osseous dysplasia disorder with characteristics of pre and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyse
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syndrome de Roifman
SNOMEDCT-BE (epiphyseal dysplasia, epiphyse / 773404000
SNOMEDCT-BE (disorder) / 773404000
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dysplasia | abnormality of development
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dysplasie | malformation
UGENT - Medical terms -
UGENT - Medical terms -
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Multiple epiphyseal dysplasia with severe proximal femoral dysplasia
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dysplasie épiphysaire multiple avec dysplasie fémorale sévère
SNOMEDCT-BE (disorder) / 763893008
SNOMEDCT-BE (disorder) / 763893008
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A very rare congenital malformation of the digits with the absence of the middle phalanges (usually of digits two to five), nail dysplasia and duplicated terminal phalanx of the thumb. Has been described in patients from two unrelated families.
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brachydactylie type A5
SNOMEDCT-BE (usually of digits two to five), nail dysplasia and duplicated terminal phalanx of the thumb. Has been described in patients from two unrelated families. / 720570007
SNOMEDCT-BE (disorder) / 720570007
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Spondyloepiphyseal dysplasia, retinal dystrophy, immunodeficiency syndrome
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syndrome de dysplasie spondylo-épiphysaire, dystrophie rétinienne, déficit immunitaire
SNOMEDCT-BE (epiphyseal dysplasia, epiphyse / 773404000
SNOMEDCT-BE (disorder) / 773404000
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A rare familial skeletal dysplasia with characteristics of multiple epiphyseal dysplasia with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family. A mutation in PTHR1 gene is responsible for this synd
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syndrome d'Eiken
SNOMEDCT-BE (disorder) / 720863002
SNOMEDCT-BE (disorder) / 720863002
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A lethal skeletal dysplasia with characteristics of cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralisati
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ostéocraniosténose
SNOMEDCT-BE (disorder) / 722109008
SNOMEDCT-BE (disorder) / 722109008
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Aortic valve dysplasia
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dysplasie valvulaire aortique
SNOMEDCT-BE (disorder) / 253604004
SNOMEDCT-BE (disorder) / 253604004
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Others have searched : aortic valve dysplasia    abnormality of development    dysplasia    micromelic dysplasia    


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'micromelic dysplasia'

Date index:2022-02-12 -

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