722432000: Duane anomaly, myopathy, scoliosis syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Deformity of spine (finding)\Curvature of spine\Scoliosis deformity of spine\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Curvature of spine\Scoliosis deformity of spine\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Finding of back (finding)\Finding of spinal region\Deformity of spine (finding)\Curvature of spine\Scoliosis deformity of spine\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Curvature of spine\Scoliosis deformity of spine\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \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)
• \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)
• \Head finding (finding)\Finding of head region\Globe finding\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)
• \Head finding (finding)\Disorder of head (disorder)\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)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Abducens nerve disorder (disorder)\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Congenital anomaly of peripheral nerve\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Abducens nerve disorder (disorder)\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Congenital anomaly of peripheral nerve\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Eye / vision finding\Globe finding\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)
• \Eye / vision finding\Visual system disorder\Abducens nerve disorder (disorder)\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Eye / vision finding\Visual system disorder\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)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye movements\Strabismus\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Muscle finding\Disorder of muscle\Disorder of skeletal muscle\...
• \Myoneural disorder\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Congenital anomaly of skeletal muscle\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \Hereditary disorder of musculoskeletal system\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Scoliosis deformity of spine\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disorder of skeletal muscle\Myoneural disorder\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disorder of skeletal muscle\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\Disorder of sensory organ (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\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of nervous system of head/neck (disorder)\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Congenital anomaly of peripheral nerve\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Abducens nerve disorder (disorder)\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\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\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Strabismus\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Abducens nerve disorder (disorder)\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Congenital anomaly of peripheral nerve\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Abducens nerve disorder (disorder)\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of nervous system of head/neck (disorder)\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Congenital anomaly of peripheral nerve\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Abducens nerve disorder (disorder)\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Congenital anomaly of peripheral nerve\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Myoneural disorder\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Congenital anomaly of the peripheral nervous system\Congenital anomaly of peripheral nerve\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Scoliosis deformity of spine\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myoneural disorder\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Duane anomaly, myopathy, scoliosis 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\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of head (disorder)\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\Disorder of head (disorder)\Disorder of eye region (disorder)\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Curvature of spine\Scoliosis deformity of spine\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of soft tissue\Peripheral nerve disease\Abducens nerve disorder (disorder)\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of soft tissue\Peripheral nerve disease\Congenital anomaly of peripheral nerve\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Developmental disorder\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\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of nervous system of head/neck (disorder)\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Congenital anomaly of peripheral nerve\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital strabismus\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
• \Disease\Developmental disorder\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\Developmental disorder\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
5402925011	A rare genetic disease characterized by bilateral Duane retraction syndrome type 3 (consisting of severe limitation of abduction, restriction of adduction, retraction of the globe, and narrowing of the palpebral fissure) and congenital myopathy manifesting as mild non-progressive hypotonia without muscular weakness, as well as delayed motor milestones, severe early-onset scoliosis, and short stature. Intelligence is normal.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402926012	A rare genetic disease characterised by bilateral Duane retraction syndrome type 3 (consisting of severe limitation of abduction, restriction of adduction, retraction of the globe, and narrowing of the palpebral fissure) and congenital myopathy manifesting as mild non-progressive hypotonia without muscular weakness, as well as delayed motor milestones, severe early-onset scoliosis, and short stature. Intelligence is normal.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start