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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
    132453012 Blepharophimosis syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    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 Only initial character 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 Only initial character 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 Only initial character case insensitive (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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Blepharophimosis syndrome Is a Congenital blepharophimosis false Inferred relationship Existential restriction modifier (core metadata concept)
    Blepharophimosis syndrome Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Existential restriction modifier (core metadata concept)
    Blepharophimosis syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Blepharophimosis syndrome Finding site Structure of palpebral fissure false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Blepharophimosis syndrome Associated morphology diminution de la dimension false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Blepharophimosis syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
    Blepharophimosis syndrome Finding site Structure of orbit proper false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Blepharophimosis syndrome Associated morphology Narrowed structure (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Blepharophimosis syndrome Finding site Eyelid structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Blepharophimosis syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Blepharophimosis syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Blepharophimosis syndrome Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
    Blepharophimosis syndrome Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Blepharophimosis syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Blepharophimosis syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Blepharophimosis syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Blepharophimosis syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Blepharophimosis syndrome Is a Congenital structural abnormality of orbit proper (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    Blepharophimosis syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Blepharophimosis syndrome Finding site Eyelid structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Blepharophimosis syndrome Finding site Structure of palpebral fissure false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Blepharophimosis syndrome Associated morphology Narrowed structure (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Blepharophimosis syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Blepharophimosis syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Blepharophimosis syndrome Finding site Eyelid structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Blepharophimosis syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Blepharophimosis syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Blepharophimosis syndrome Associated morphology Narrowed structure (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Blepharophimosis syndrome Finding site Structure of palpebral fissure false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Blepharophimosis syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Blepharophimosis syndrome Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Blepharophimosis syndrome Associated morphology Narrowed structure (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Blepharophimosis syndrome Finding site Structure of palpebral fissure false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Blepharophimosis syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Blepharophimosis syndrome Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Blepharophimosis syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Blepharophimosis syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Blepharophimosis syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Blepharophimosis syndrome Finding site Eyelid structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Blepharophimosis syndrome Associated morphology Deformity (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Blepharophimosis syndrome Is a Congenital deformity of face (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    Blepharophimosis syndrome Is a Deformity of eyelid (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator attribute value reference set (foundation metadata concept)

    REPLACED BY association reference set (foundation metadata concept)

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