722432000: syndrome d'anomalie de Duane-myopathie-scoliose (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\déformation de la colonne vertébrale\Curvature of spine\déformation scoliotique de la colonne vertébrale\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Curvature of spine\déformation scoliotique de la colonne vertébrale\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \constatation à propos du dos\Finding of spinal region\déformation de la colonne vertébrale\Curvature of spine\déformation scoliotique de la colonne vertébrale\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Curvature of spine\déformation scoliotique de la colonne vertébrale\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \constatation générale à propos des tissus mous\Peripheral nerve finding\atteinte d'un nerf périphérique\affection du nerf moteur oculaire externe\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \constatation générale à propos des tissus mous\Peripheral nerve finding\atteinte d'un nerf périphérique\Congenital anomaly of peripheral nerve\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\atteinte d'un nerf périphérique\affection du nerf moteur oculaire externe\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\atteinte d'un nerf périphérique\Congenital anomaly of peripheral nerve\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of eye region (disorder)\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\affection du nerf moteur oculaire externe\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Congenital anomaly of nervous system of head/neck\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\affection du nerf moteur oculaire externe\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye movements\Strabismus\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\...
• \affection des muscles et des nerfs périphériques combinée (trouble)\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Congenital anomaly of skeletal muscle\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Hereditary disorder of musculoskeletal system\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \déformation scoliotique de la colonne vertébrale\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\affection du nerf moteur oculaire externe\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye movements\Strabismus\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\atteinte d'un nerf périphérique\affection du nerf moteur oculaire externe\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\atteinte d'un nerf périphérique\Congenital anomaly of peripheral nerve\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\affection du nerf moteur oculaire externe\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of nervous system of head/neck\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\anomalie congénitale du système nerveux périphérique\Congenital anomaly of peripheral nerve\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\atteinte d'un nerf périphérique\affection du nerf moteur oculaire externe\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\atteinte d'un nerf périphérique\Congenital anomaly of peripheral nerve\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\affection des muscles et des nerfs périphériques combinée (trouble)\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\anomalie congénitale du système nerveux périphérique\Congenital anomaly of peripheral nerve\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\déformation scoliotique de la colonne vertébrale\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of nervous system of head/neck\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\anomalie congénitale du système nerveux périphérique\Congenital anomaly of peripheral nerve\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\affection du dos\Disorder of spinal region (disorder)\Curvature of spine\déformation scoliotique de la colonne vertébrale\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of soft tissue\atteinte d'un nerf périphérique\affection du nerf moteur oculaire externe\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of soft tissue\atteinte d'un nerf périphérique\Congenital anomaly of peripheral nerve\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of nervous system of head/neck\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\anomalie congénitale du système nerveux périphérique\Congenital anomaly of peripheral nerve\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Duane anomaly, myopathy, scoliosis syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3332045016	Duane anomaly, myopathy, scoliosis syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3332046015	Duane anomaly, myopathy, scoliosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3332047012	Verloes Deprez syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
758721000241117	syndrome d'anomalie de Duane-myopathie-scoliose (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
885931000172112	syndrome d'anomalie de Duane-myopathie-scoliose	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
902581000172116	syndrome de Verloes-Deprez	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3332048019	Syndrome with the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of siblings. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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