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79833006: Blepharophimosis syndrome (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    132453012 Blepharophimosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    132454018 Familial blepharophimosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    132455017 Conjunctival eyelid tetra syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    132456016 BPES syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    820927015 Blepharophimosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    1390921000052110 blefarofimossyndrom sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    blefarofimossyndrom Is a Congenital blepharophimosis false Inferred relationship Some
    blefarofimossyndrom Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Some
    blefarofimossyndrom Associated morphology kongenital anomali false Inferred relationship Some 2
    blefarofimossyndrom Finding site Structure of palpebral fissure false Inferred relationship Some 2
    blefarofimossyndrom Associated morphology Decreased size false Inferred relationship Some 1
    blefarofimossyndrom Occurrence Congenital false Inferred relationship Some
    blefarofimossyndrom Finding site Structure of orbit proper false Inferred relationship Some 1
    blefarofimossyndrom Associated morphology Narrowed structure (morphologic abnormality) false Inferred relationship Some 2
    blefarofimossyndrom Finding site Eyelid structure false Inferred relationship Some 1
    blefarofimossyndrom Associated morphology kongenital anomali false Inferred relationship Some 3
    blefarofimossyndrom Associated morphology kongenital anomali false Inferred relationship Some 2
    blefarofimossyndrom Associated morphology medfödd missbildning false Inferred relationship Some
    blefarofimossyndrom Finding site Face structure false Inferred relationship Some 4
    blefarofimossyndrom Associated morphology kongenital anomali false Inferred relationship Some 2
    blefarofimossyndrom Associated morphology kongenital anomali false Inferred relationship Some 1
    blefarofimossyndrom Associated morphology kongenital anomali false Inferred relationship Some 1
    blefarofimossyndrom Associated morphology kongenital anomali false Inferred relationship Some 4
    blefarofimossyndrom Is a Congenital anomaly of orbit false Inferred relationship Some
    blefarofimossyndrom Associated morphology kongenital anomali false Inferred relationship Some 1
    blefarofimossyndrom Finding site Eyelid structure false Inferred relationship Some 1
    blefarofimossyndrom Finding site Structure of palpebral fissure false Inferred relationship Some 2
    blefarofimossyndrom Associated morphology Narrowed structure (morphologic abnormality) false Inferred relationship Some 2
    blefarofimossyndrom Occurrence Congenital false Inferred relationship Some 3
    blefarofimossyndrom Associated morphology utvecklingsabnormitet false Inferred relationship Some 3
    blefarofimossyndrom Finding site Eyelid structure false Inferred relationship Some 3
    blefarofimossyndrom Occurrence Congenital false Inferred relationship Some 4
    blefarofimossyndrom Occurrence Congenital false Inferred relationship Some 1
    blefarofimossyndrom Associated morphology Narrowed structure (morphologic abnormality) false Inferred relationship Some 1
    blefarofimossyndrom Finding site Structure of palpebral fissure false Inferred relationship Some 1
    blefarofimossyndrom Associated morphology utvecklingsabnormitet false Inferred relationship Some 1
    blefarofimossyndrom Finding site Face structure false Inferred relationship Some 1
    blefarofimossyndrom Associated morphology Narrowed structure (morphologic abnormality) false Inferred relationship Some 4
    blefarofimossyndrom Finding site Structure of palpebral fissure false Inferred relationship Some 4
    blefarofimossyndrom Occurrence Congenital false Inferred relationship Some 2
    blefarofimossyndrom Finding site Face structure false Inferred relationship Some 2
    blefarofimossyndrom Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 2
    blefarofimossyndrom Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    blefarofimossyndrom Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    blefarofimossyndrom Finding site Eyelid structure false Inferred relationship Some 2
    blefarofimossyndrom Associated morphology Deformity false Inferred relationship Some 2
    blefarofimossyndrom Is a Congenital deformity of face (disorder) false Inferred relationship Some
    blefarofimossyndrom Is a Deformity of eyelid (disorder) false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

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