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79833006: congenitaal blefarofimosesyndroom (aandoening)

    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
    65851000146119 congenitaal blefarofimosesyndroom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    124221000146110 BPES nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    124231000146112 congenitaal blefarofimosesyndroom (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    congenitaal blefarofimosesyndroom Is a Congenital blepharophimosis false Inferred relationship Some
    congenitaal blefarofimosesyndroom Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Some
    congenitaal blefarofimosesyndroom Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 2
    congenitaal blefarofimosesyndroom Finding site Structure of palpebral fissure false Inferred relationship Some 2
    congenitaal blefarofimosesyndroom Associated morphology Decreased size false Inferred relationship Some 1
    congenitaal blefarofimosesyndroom Occurrence Congenital false Inferred relationship Some
    congenitaal blefarofimosesyndroom Finding site Structure of orbit proper false Inferred relationship Some 1
    congenitaal blefarofimosesyndroom Associated morphology Narrowed structure (morphologic abnormality) false Inferred relationship Some 2
    congenitaal blefarofimosesyndroom Finding site Eyelid structure false Inferred relationship Some 1
    congenitaal blefarofimosesyndroom Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 3
    congenitaal blefarofimosesyndroom Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 2
    congenitaal blefarofimosesyndroom Associated morphology Congenital malformation false Inferred relationship Some
    congenitaal blefarofimosesyndroom Finding site Face structure false Inferred relationship Some 4
    congenitaal blefarofimosesyndroom Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 2
    congenitaal blefarofimosesyndroom Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 1
    congenitaal blefarofimosesyndroom Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 1
    congenitaal blefarofimosesyndroom Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 4
    congenitaal blefarofimosesyndroom Is a Congenital structural abnormality of orbit proper (disorder) false Inferred relationship Some
    congenitaal blefarofimosesyndroom Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 1
    congenitaal blefarofimosesyndroom Finding site Eyelid structure false Inferred relationship Some 1
    congenitaal blefarofimosesyndroom Finding site Structure of palpebral fissure false Inferred relationship Some 2
    congenitaal blefarofimosesyndroom Associated morphology Narrowed structure (morphologic abnormality) false Inferred relationship Some 2
    congenitaal blefarofimosesyndroom Occurrence Congenital false Inferred relationship Some 3
    congenitaal blefarofimosesyndroom Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 3
    congenitaal blefarofimosesyndroom Finding site Eyelid structure false Inferred relationship Some 3
    congenitaal blefarofimosesyndroom Occurrence Congenital false Inferred relationship Some 4
    congenitaal blefarofimosesyndroom Occurrence Congenital false Inferred relationship Some 1
    congenitaal blefarofimosesyndroom Associated morphology Narrowed structure (morphologic abnormality) false Inferred relationship Some 1
    congenitaal blefarofimosesyndroom Finding site Structure of palpebral fissure false Inferred relationship Some 1
    congenitaal blefarofimosesyndroom Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 1
    congenitaal blefarofimosesyndroom Finding site Face structure false Inferred relationship Some 1
    congenitaal blefarofimosesyndroom Associated morphology Narrowed structure (morphologic abnormality) false Inferred relationship Some 4
    congenitaal blefarofimosesyndroom Finding site Structure of palpebral fissure false Inferred relationship Some 4
    congenitaal blefarofimosesyndroom Occurrence Congenital false Inferred relationship Some 2
    congenitaal blefarofimosesyndroom Finding site Face structure false Inferred relationship Some 2
    congenitaal blefarofimosesyndroom Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 2
    congenitaal blefarofimosesyndroom Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    congenitaal blefarofimosesyndroom Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    congenitaal blefarofimosesyndroom Finding site Eyelid structure false Inferred relationship Some 2
    congenitaal blefarofimosesyndroom Associated morphology Deformity false Inferred relationship Some 2
    congenitaal blefarofimosesyndroom Is a Congenital deformity of face (disorder) false Inferred relationship Some
    congenitaal blefarofimosesyndroom 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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