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Biemond syndrome type 2

Translation of "biemond s syndrome " (English → French) :

Biemond syndrome type 2

syndrome de Biemond type 2
SNOMEDCT-BE (disorder) / 717887003
SNOMEDCT-BE (disorder) / 717887003


A rare malignant hematologic disease characterized by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, c

leucémie aigüe myéloïde héréditaire
SNOMEDCT-BE (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, c / 764940002
SNOMEDCT-BE (disorder) / 764940002


A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandib

syndrome de Mœbius
SNOMEDCT-BE (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandib / 89444000
SNOMEDCT-BE (disorder) / 89444000


Rare syndrome with the association of congenital nephrotic syndrome, ocular anomalies and microcoria. The disorder results in proteinuria with nephrotic syndrome and histological lesions marked by diffuse mesangial sclerosis. Ocular anomalies are pre

syndrome de Pierson
SNOMEDCT-BE (disorder) / 723449004
SNOMEDCT-BE (disorder) / 723449004


A Noonan-related syndrome with characteristics of facial anomalies suggestive of Noonan syndrome, a distinctive hair anomaly described as loose anagen hair syndrome, frequent congenital heart defects, distinctive skin features with darkly pigmented s

syndrome Noonan-like avec cheveux anagènes caducs
SNOMEDCT-BE (disorder) / 723444009
SNOMEDCT-BE (disorder) / 723444009


AFG3L2 (AFG3 like matrix AAA peptidase subunit 2) related spastic ataxia, myoclonic epilepsy, neuropathy syndrome

syndrome d'ataxie spastique-epilepsie myoclonique-neuropathie précoce
SNOMEDCT-BE (AFG3 like matrix AAA peptidase subunit 2) related spastic ataxia, myoclonic epilepsy, neuropathy syndrome / 771469002
SNOMEDCT-BE (disorder) / 771469002


The association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. The syndrome has been descri

syndrome de brachydactylie préaxiale-hallux varus
SNOMEDCT-BE (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. The syndrome has been descri / 732957009
SNOMEDCT-BE (disorder) / 732957009


A rare genetic syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes,

syndrome de microdélétion 9 q31.1q31.3
SNOMEDCT-BE (disorder) / 773493002
SNOMEDCT-BE (disorder) / 773493002


SANDO (sensory ataxic neuropathy dysarthria ophthalmoparesis) syndrome

syndrome d'ataxie neuropathique sensorielle-dysarthrie-ophtalmoplégie
SNOMEDCT-BE (sensory ataxic neuropathy dysarthria ophthalmoparesis) syndrome / 717266001
SNOMEDCT-BE (disorder) / 717266001


A cerebral malformation with epilepsy with predominant characteristics of posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional f

lissencéphalie par mutation de LIS1
SNOMEDCT-BE (disorder) / 770560008
SNOMEDCT-BE (disorder) / 770560008




Others have searched : biemond syndrome type    biemond s syndrome    


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'biemond s syndrome'

Date index:2023-03-24 -

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