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)

\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\Combined disorder of muscle AND peripheral nerve (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)

\Finding of head and neck region\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)
\Finding of head and neck region\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)
\Finding of head and neck region\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)
\Finding of head and neck region\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)
\Finding of head and neck region\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)
\Finding of head and neck region\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)
\Finding of head and neck region\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)
\Finding of head and neck region\Abducens nerve disorder (disorder)\Duane's syndrome\Duane's syndrome, type 3\Duane anomaly, myopathy, scoliosis syndrome (disorder)
\Finding of head and neck region\Congenital anomaly of nervous system of head/neck (disorder)\Duane's syndrome\Duane's syndrome, type 3\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\...

\Combined disorder of muscle AND peripheral nerve (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\Combined disorder of muscle AND peripheral nerve (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 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\Combined disorder of muscle AND peripheral nerve (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\Combined disorder of muscle AND peripheral nerve (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\Combined disorder of muscle AND peripheral nerve (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\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Duane anomaly, myopathy, scoliosis syndrome (disorder)
\Disease\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\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\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\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\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\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\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 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\Combined disorder of muscle AND peripheral nerve (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

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

885931000172112 syndrome d'anomalie de Duane-myopathie-scoliose fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

902581000172116 syndrome de Verloes-Deprez fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

892381000172118 duane-anomalie, myopathie, scoliosesyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

921901000172115 syndroom van Verloes-Deprez nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Some
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Is a	Duane's syndrome, type 3	true	Inferred relationship	Some
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Is a	Scoliosis deformity of spine	true	Inferred relationship	Some
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Finding site	Eyelid structure	false	Inferred relationship	Some
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Has definitional manifestation	Retraction (finding)	false	Inferred relationship	Some
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	7
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	7
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	6
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Associated morphology	Lateral abnormal curvature	false	Inferred relationship	Some	8
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Finding site	Musculoskeletal structure of spine	false	Inferred relationship	Some	8
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	6
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Finding site	Eye structure	false	Inferred relationship	Some	7
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Interprets	Evaluation procedure (procedure)	false	Inferred relationship	Some
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Finding site	Abducens nerve structure	true	Inferred relationship	Some	4
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Is a	Combined disorder of muscle AND peripheral nerve (disorder)	true	Inferred relationship	Some
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Associated morphology	Lateral abnormal curvature	true	Inferred relationship	Some	3
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Finding site	Skeletal muscle structure (body structure)	true	Inferred relationship	Some	1
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Finding site	Eye structure	true	Inferred relationship	Some	2
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	4
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Finding site	Musculoskeletal structure of spine	true	Inferred relationship	Some	3
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
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
885931000172112	syndrome d'anomalie de Duane-myopathie-scoliose	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
902581000172116	syndrome de Verloes-Deprez	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
892381000172118	duane-anomalie, myopathie, scoliosesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
921901000172115	syndroom van Verloes-Deprez	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)