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62767009: Franceschetti-Klein syndrome (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    104313012 Franceschetti-Klein syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    104314018 Complete mandibulofacial dysostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    801975012 Franceschetti-Klein syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
    104313012 Franceschetti-Klein syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    104314018 Complete mandibulofacial dysostosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    104314018 Complete mandibulofacial dysostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    801975012 Franceschetti-Klein syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    801975012 Franceschetti-Klein syndrome (disorder) en Fully specified name 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
    Franceschetti-Klein syndrome Is a Autosomal dominant hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Franceschetti-Klein syndrome Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
    Franceschetti-Klein syndrome Is a A congenital disorder of craniofacial development with characteristics of bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. The syndrome is caused by mutations in the TCOF1 gene (5q32) encoding the nucleolar phosphoprotein Treacle or in the POLR1C (6p21.1) or POLR1D (13q12.2) genes, coding for RNA polymerase I and III subunits. Transmission is autosomal dominant with 90% penetrance and variable expressivity, even among affected patients within the same family. Mutations in POLR1C gene are inherited in autosomal recessive manner. false Inferred relationship Existential restriction modifier (core metadata concept)
    Franceschetti-Klein syndrome Finding site Bone structure of head false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Franceschetti-Klein syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
    Franceschetti-Klein syndrome Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
    Franceschetti-Klein syndrome Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Franceschetti-Klein syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Franceschetti-Klein syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Franceschetti-Klein syndrome Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Franceschetti-Klein syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Franceschetti-Klein syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

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

    SAME AS association reference set (foundation metadata concept)

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