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Early-onset cerebellar ataxia with essential tremor
Hunt's ataxia
Myoclonus
Retained tendon reflexes

Translation of "retained tendon reflexes " (English → French) :

Early onset cerebellar ataxia with retained tendon reflexes

ataxie cérébelleuse précoce avec conservation des réflexes tendineux
SNOMEDCT-BE (disorder) / 230228004
SNOMEDCT-BE (disorder) / 230228004


Early-onset cerebellar ataxia with:essential tremor | myoclonus [Hunt's ataxia] | retained tendon reflexes | Friedreich's ataxia (autosomal recessive) X-linked recessive spinocerebellar ataxia

Ataxie (de):cérébelleuse précoce avec:myoclonies [Ramsay-Hunt] | persistance des réflexes tendineux | tremblement essentiel | Friedreich (autosomique récessive) | spino-cérébelleuse récessive liée au chromosome X
WORLD HEALTH ORGANIZATION ICD-10: G11.1
WORLD HEALTH ORGANIZATION ICD-10: G11.1


EOCA - Early onset cerebellar ataxia with retained tendon reflexes

ataxie de Harding
SNOMEDCT-BE (disorder) / 230228004
SNOMEDCT-BE (disorder) / 230228004


This syndrome is characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninemia and elevated serum creatine kinase levels. It has been described in thr

retard psychomoteur par déficit en S-adénosylhomocystéine hydrolase
SNOMEDCT-BE (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninemia and elevated serum creatine kinase levels. It has been described in thr / 724039002
SNOMEDCT-BE (disorder) / 724039002


A rare distal hereditary motor neuropathy with characteristics of slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild pro

atrophie musculaire spinale distale liée à l'X type 3
SNOMEDCT-BE (disorder) / 766764008
SNOMEDCT-BE (disorder) / 766764008


A rare genetic epilepsy characterized by relatively large head circumference or macrocephaly, diminished or absent deep-tendon reflexes and mild gross motor delay in infancy, followed by intractable focal seizures with language regression, behavioral

syndrome de dysplasie corticale-épilepsie focale
SNOMEDCT-BE (disorder) / 771142009
SNOMEDCT-BE (disorder) / 771142009


A mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with characteristics of distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression

maladie de Charcot-Marie-Tooth autosomique dominante type 2N
SNOMEDCT-CA (trouble) / 719515001
SNOMEDCT-CA (trouble) / 719515001


A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with distal weakness primarily and predominantly occurring in the upper limbs.Tendon reflexes are absent or reduced in the arms and decreased in the legs. Progression

maladie de Charcot-Marie-Tooth autosomique dominante type 2D
SNOMEDCT-CA (trouble) / 717011006
SNOMEDCT-CA (trouble) / 717011006


A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. A late onset with severe sensory loss associated with distal weakness mainly of the legs and absent or reduced deep tendon reflexes.

maladie de Charcot-Marie-Tooth autosomique dominante type 2I
SNOMEDCT-CA (trouble) / 717013009
SNOMEDCT-CA (trouble) / 717013009


A very rare secondary neonatal autoimmune disease characterised by generalised weakness, severe hypotonia, absent or reduced deep tendon reflexes and highly elevated serum creatine kinase levels presenting in the neonatal period. Perifascicular atrop

dermatomyosite néonatale
SNOMEDCT-BE (disorder) / 774082004
SNOMEDCT-BE (disorder) / 774082004




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'retained tendon reflexes'

Date index:2023-08-08 -

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