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

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2025. 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 Inactive 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

    0 descendants.

    Expanded Value Set

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

    Reference Sets

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

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

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