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719511005: Autosomal dominant Charcot-Marie-Tooth disease type 2G (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2025. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3316641018 Autosomal dominant Charcot-Marie-Tooth disease type 2G (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3316642013 Autosomal dominant Charcot-Marie-Tooth disease type 2G en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3316643015 A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with onset associated with development of foot deformity and walking difficulties between the first and the eighth decades. Weakness and sensory loss involve primarily the legs and ankles, tendon reflexes are reduced. The disease has a slowly progressive course. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
    5402136017 A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with onset associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. This disorder has a slowly progressive course. en Definition 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
    Autosomal dominant Charcot-Marie-Tooth disease type 2G Is a Autosomal dominant hereditary disorder false Inferred relationship Some
    Autosomal dominant Charcot-Marie-Tooth disease type 2G Is a Charcot-Marie-Tooth disease, type II (disorder) false Inferred relationship Some
    Autosomal dominant Charcot-Marie-Tooth disease type 2G Finding site Peripheral nervous system structure false Inferred relationship Some 1
    Autosomal dominant Charcot-Marie-Tooth disease type 2G Associated morphology Atrophy false Inferred relationship Some 2
    Autosomal dominant Charcot-Marie-Tooth disease type 2G Finding site Nerve structure false Inferred relationship Some 2
    Autosomal dominant Charcot-Marie-Tooth disease type 2G Is a Autosomal dominant Charcot-Marie-Tooth disease type 2 false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Component annotation with string value reference set (foundation metadata concept)

    Concept inactivation indicator reference set

    GB English

    US English

    REPLACED BY association reference set (foundation metadata concept)

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