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402783001: Congenital/hereditary cutis laxa (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    1770707019 Congenital/hereditary cutis laxa (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    1781877014 Congenital/hereditary cutis laxa en Synonym (core metadata concept) 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
    Congenital/hereditary cutis laxa Is a Cutis laxa false Inferred relationship Some
    Congenital/hereditary cutis laxa Finding site Connective tissue structure false Inferred relationship Some
    Congenital/hereditary cutis laxa Finding site Skin structure false Inferred relationship Some
    Congenital/hereditary cutis laxa Occurrence Congenital false Inferred relationship Some
    Congenital/hereditary cutis laxa Is a Congenital connective tissue disorder false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Cutis laxa secondary to inherited disorder of connective tissue (disorder) Is a False Congenital/hereditary cutis laxa Inferred relationship Some
    A rare multiple congenital anomalies syndrome characterised by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and abnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on. Is a False Congenital/hereditary cutis laxa Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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