724349009: Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Congenital deformity\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)
• \Finding of movement (finding)\Finding of joint movement\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)
• \Finding of movement (finding)\Movement disorder\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Finding of movement (finding)\Motor dysfunction\Paralysis\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\...
• \Disorder of soft tissue of head\Disorder of extraocular muscle\...
• \Myopathy of extraocular muscles\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Finding of head and neck region\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\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\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\Orbit finding\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Finding of head region\Orbit finding\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disorder of head (disorder)\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)
• \Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disorder of head (disorder)\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)
• \Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of extraocular muscle\Myopathy of extraocular muscles\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Eye / vision finding\Orbit finding\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Eye / vision finding\Orbit finding\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Eye / vision finding\Visual system disorder\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)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Eye / vision finding\Visual system disorder\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)
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye movements\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Muscle finding\Disorder of muscle\Disorder of skeletal muscle\...
• \Disorder of extraocular muscle\Myopathy of extraocular muscles\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\Disorder of musculoskeletal system\...
• \Hereditary disorder of musculoskeletal system\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disorder of skeletal muscle\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)
• \Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\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\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\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\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\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\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\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 muscle\Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of orbit proper (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Disorder of head (disorder)\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\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of extraocular muscle\Myopathy of extraocular muscles\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Disorder of head (disorder)\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\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of extraocular muscle\Myopathy of extraocular muscles\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Congenital disease (disorder)\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\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\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\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\Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
• \Disease\Developmental disorder\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
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
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
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 Switzerland NRC maintained Module
1007811000172116	HIBM3 - hereditary inclusion body myopathy type 3	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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