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Autosomal dominant disorder
Autosomal recessive disorder
Autosomal recessive inheritance
Becker
Benign
Benign scapuloperoneal with early contractures
Bruton
Distal
Duchenne
Early-onset cerebellar ataxia with essential tremor
Emery-Dreifuss
Facioscapulohumeral
Fatal autosomal recessive syndrome
Hunt's ataxia
Limb-girdle
Myoclonus
Ocular
Oculopharyngeal
Retained tendon reflexes
Scapuloperoneal
Severe

Translation of "Autosomal recessive disorder " (English → French) :

autosomal recessive disorder

maladie héréditaire récessive autosomique | maladie autosomique récessive | maladie récessive autosomique
médecine > sémiologie et pathologie | biologie > génétique
médecine > sémiologie et pathologie | biologie > génétique


An extremely rare lethal autosomal recessive disorder characterised by massive birth weight, swollen globular body, generalised oedema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism, excessive connective tissue, renal dysplasia,

syndrome d'Elejalde
SNOMEDCT-BE (disorder) / 720417003
SNOMEDCT-BE (disorder) / 720417003


An extremely rare autosomal recessive disorder with characteristics of bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears) and strabismus.

syndrome de paralysie faciale congénitale héréditaire-surdité variable
SNOMEDCT-BE (midfacial retrusion, low-set ears) and strabismus. / 722389002
SNOMEDCT-BE (disorder) / 722389002


Autosomal recessive cerebelloparenchymal disorder type 3

ataxie spinocérébelleuse autosomique récessive type 2
SNOMEDCT-BE (spinocerebellar ataxia autosomal recessive 2) / 715369006
SNOMEDCT-BE (disorder) / 715369006


autosomal recessive inheritance

transmission autosomique récessive | mode de transmission autosomique récessif | transmission récessive autosomique
biologie > génétique
biologie > génétique


fatal autosomal recessive syndrome

syndrome fatal autosomal récessif
IATE - Health
IATE - Health


autosomal dominant disorder

maladie héréditaire dominante autosomique | maladie autosomique dominante | maladie dominante autosomique
médecine > sémiologie et pathologie | biologie > génétique
médecine > sémiologie et pathologie | biologie > génétique


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


Muscular dystrophy:autosomal recessive, childhood type, resembling Duchenne or Becker | benign [Becker] | benign scapuloperoneal with early contractures [Emery-Dreifuss] | distal | facioscapulohumeral | limb-girdle | ocular | oculopharyngeal | scapuloperoneal | severe [Duchenne]

Dystrophie musculaire:autosomique récessive, infantile, de type Duchenne ou Becker | bénigne [Becker] | des ceintures | distale | facio-scapulo-humérale | oculaire | oculo-pharyngée | scapulo-péronière:SAI | bénigne avec contractures précoces [Emery-Dreifuss] | sévère [Duchenne]
WORLD HEALTH ORGANIZATION ICD-10: G71.0
WORLD HEALTH ORGANIZATION ICD-10: G71.0


Autosomal recessive agammaglobulinaemia (Swiss type) X-linked agammaglobulinaemia [Bruton] (with growth hormone deficiency)

Agammaglobulinémie:autosomique récessive (type suisse) | liée au chromosome X [Bruton] (avec déficit de l'hormone de croissance)
WORLD HEALTH ORGANIZATION ICD-10: D80.0
WORLD HEALTH ORGANIZATION ICD-10: D80.0




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'Autosomal recessive disorder'

Date index:2021-06-20 -

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