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254228003: Congenital morphological disturbances of hair (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
    378455015 Congenital morphological disturbances of hair en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    645090016 Congenital morphological disturbances of hair (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
    Congenital morphological disturbances of hair Is a Congenital anomaly of hair false Inferred relationship Some
    Congenital morphological disturbances of hair Is a Disorder of hair AND/OR hair follicle false Inferred relationship Some
    Congenital morphological disturbances of hair Occurrence Congenital false Inferred relationship Some
    Congenital morphological disturbances of hair Finding site Hair structure false Inferred relationship Some
    Congenital morphological disturbances of hair Associated morphology anomalie congénitale false Inferred relationship Some 1
    Congenital morphological disturbances of hair Finding site Hair structure (body structure) false Inferred relationship Some 1
    Congenital morphological disturbances of hair Finding site Skin structure false Inferred relationship Some
    Congenital morphological disturbances of hair Is a Disorder of hair AND/OR hair follicle false Inferred relationship Some
    Congenital morphological disturbances of hair Associated morphology anomalie congénitale false Inferred relationship Some 1
    Congenital morphological disturbances of hair Finding site Hair structure (body structure) false Inferred relationship Some 1
    Congenital morphological disturbances of hair Occurrence Congenital false Inferred relationship Some 2
    Congenital morphological disturbances of hair Associated morphology anomalie du développement false Inferred relationship Some 2
    Congenital morphological disturbances of hair Finding site Hair structure (body structure) false Inferred relationship Some 2
    Congenital morphological disturbances of hair Occurrence Congenital false Inferred relationship Some 1
    Congenital morphological disturbances of hair Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Congenital morphological disturbances of hair Associated morphology Morphologically abnormal structure false Inferred relationship Some 1

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Uncombable hair syndrome Is a False Congenital morphological disturbances of hair Inferred relationship Some
    Congenital woolly hair Is a False Congenital morphological disturbances of hair Inferred relationship Some
    Congenital ringed hair Is a False Congenital morphological disturbances of hair Inferred relationship Some
    Marie Unna syndrome Is a False Congenital morphological disturbances of hair Inferred relationship Some
    Pili torti Is a False Congenital morphological disturbances of hair Inferred relationship Some
    Pili annulati Is a False Congenital morphological disturbances of hair Inferred relationship Some
    Beaded hair Is a False Congenital morphological disturbances of hair Inferred relationship Some
    Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognathism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported. Is a False Congenital morphological disturbances of hair Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set (foundation metadata concept)

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