724349009: syndrome héréditaire de myopathie à corps d'inclusions-contractures articulaires-ophtalmoplégie (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\anomalie morphologique congénitale\Arthrogryposis\Inherited arthrogryposis\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \constatation à propos du mouvement\constatation à propos du mouvement de l'articulation\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \constatation à propos du mouvement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\...
• \Disorder of soft tissue of head\Disorder of extraocular muscle\...
• \Myopathy of extraocular muscles (disorder)\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \affection d'un muscle squelettique\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \affection d'un muscle squelettique\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia 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 orbit proper (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Finding of head region\constatation à propos d'une orbite\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Finding of head region\constatation à propos d'une orbite\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \affection de la tête\Disorder of soft tissue of head\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \affection de la tête\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'une orbite\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'une orbite\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye movements\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\...
• \Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Hereditary disorder of musculoskeletal system\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \affection d'un muscle squelettique\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \affection d'un muscle squelettique\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Inherited arthrogryposis\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye movements\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\syndrome paralytique (trouble)\Ophthalmoplegia\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia 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\Myopathy with cytoplasmic inclusions\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\affection de la tête\Disorder of soft tissue of head\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\affection de la tête\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Arthrogryposis\Inherited arthrogryposis\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Disorder of extraocular muscle\Myopathy of extraocular muscles (disorder)\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Inherited arthrogryposis\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Arthrogryposis\Inherited arthrogryposis\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia 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\Myopathy with cytoplasmic inclusions\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1007811000172116	HIBM3 - hereditary inclusion body myopathy type 3	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3434278019	Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3434279010	Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3434280013	Hereditary inclusion body myopathy type 3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3434281012	Inclusion body myopathy type 3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
760471000241119	syndrome héréditaire de myopathie à corps d'inclusions-contractures articulaires-ophtalmoplégie (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
931491000172118	syndrome héréditaire de myopathie à corps d'inclusions-contractures articulaires-ophtalmoplégie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3434282017	Disease characterized by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia and proximal muscle weakness. In adult cases, the muscular weakness is progressive. Nineteen affected individuals have been described from one large family. The causative gene, the hereditary inclusion-body myopathy (IBM3) gene, has been mapped to chromosome region 17p13.1. Inheritance is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3434283010	Disease characterised by congenital joint contractures (normalising during early childhood), external ophthalmoplegia and proximal muscle weakness. In adult cases, the muscular weakness is progressive. Nineteen affected individuals have been described from one large family. The causative gene, the hereditary inclusion-body myopathy (IBM3) gene, has been mapped to chromosome region 17p13.1. Inheritance is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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