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239068002: Autosomal dominant mutilating keratoderma (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    358270018 Autosomal dominant mutilating keratoderma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    628035017 Autosomal dominant mutilating keratoderma (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    1496081000005113 Autosomal dominant mutilerende keratoderma da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Autosomal dominant mutilerende keratoderma Is a Mutilating keratoderma false Inferred relationship Some
    Autosomal dominant mutilerende keratoderma Finding site Skin structure false Inferred relationship Some 1
    Autosomal dominant mutilerende keratoderma Associated morphology Hyperkeratosis false Inferred relationship Some 2
    Autosomal dominant mutilerende keratoderma Occurrence Congenital false Inferred relationship Some
    Autosomal dominant mutilerende keratoderma Is a Autosomal dominant hereditary disorder false Inferred relationship Some
    Autosomal dominant mutilerende keratoderma Is a Hereditary disorder of the integument false Inferred relationship Some
    Autosomal dominant mutilerende keratoderma Has definitional manifestation Abnormal keratinization false Inferred relationship Some
    Autosomal dominant mutilerende keratoderma Associated morphology kongenit anomali false Inferred relationship Some 1
    Autosomal dominant mutilerende keratoderma Finding site Skin structure false Inferred relationship Some 2
    Autosomal dominant mutilerende keratoderma Finding site Skin structure false Inferred relationship Some 1
    Autosomal dominant mutilerende keratoderma Finding site Skin structure false Inferred relationship Some 2
    Autosomal dominant mutilerende keratoderma Finding site Skin structure false Inferred relationship Some 2
    Autosomal dominant mutilerende keratoderma Finding site Skin structure false Inferred relationship Some 1
    Autosomal dominant mutilerende keratoderma Finding site Skin structure false Inferred relationship Some 1
    Autosomal dominant mutilerende keratoderma Finding site Skin structure false Inferred relationship Some 2
    Autosomal dominant mutilerende keratoderma Finding site Skin structure false Inferred relationship Some 1
    Autosomal dominant mutilerende keratoderma Finding site Skin structure false Inferred relationship Some 2
    Autosomal dominant mutilerende keratoderma Finding site Skin structure false Inferred relationship Some 1
    Autosomal dominant mutilerende keratoderma Finding site Skin structure false Inferred relationship Some 2
    Autosomal dominant mutilerende keratoderma Occurrence Congenital false Inferred relationship Some 3
    Autosomal dominant mutilerende keratoderma Finding site Skin structure false Inferred relationship Some 3
    Autosomal dominant mutilerende keratoderma Associated morphology dysgenese false Inferred relationship Some 3
    Autosomal dominant mutilerende keratoderma Occurrence Congenital false Inferred relationship Some 4
    Autosomal dominant mutilerende keratoderma Associated morphology Hyperkeratosis false Inferred relationship Some 4
    Autosomal dominant mutilerende keratoderma Finding site Skin structure false Inferred relationship Some 4
    Autosomal dominant mutilerende keratoderma Has interpretation Abnormal false Inferred relationship Some 1
    Autosomal dominant mutilerende keratoderma Interprets Keratinization false Inferred relationship Some 1
    Autosomal dominant mutilerende keratoderma Finding site Skin structure of sole of foot false Inferred relationship Some 3
    Autosomal dominant mutilerende keratoderma Associated morphology Hyperkeratosis false Inferred relationship Some 3
    Autosomal dominant mutilerende keratoderma Finding site Skin structure of palmar area of hand false Inferred relationship Some 2
    Inbound Relationships Type Active Source Characteristic Refinability Group
    A rare diffuse, mutilating, hereditary palmoplantar keratoderma characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated. Is a False Autosomal dominant mutilerende keratoderma Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set (foundation metadata concept)

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