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720638000: Charcot-Marie-Tooth disease type 4J (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3321624018 Charcot-Marie-Tooth disease type 4J (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321625017 Charcot-Marie-Tooth disease type 4J en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402447018 Charcot-Marie-Tooth disease type 4J is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood- to adulthood-onset of variably severe, rapidly progressive, axonal and demyelinating sensorimotor neuropathy typically manifesting with delayed motor development, proximal and distal asymmetric muscle weakness and atrophy of the lower and upper extremities, severe motor dysfunction with mildly reduced sensory impairment, and areflexia. Nerve conduction velocities range from very mildly to severely reduced. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402448011 Charcot-Marie-Tooth disease type 4J is a subtype of Charcot-Marie-Tooth disease type 4 characterised by childhood- to adulthood-onset of variably severe, rapidly progressive, axonal and demyelinating sensorimotor neuropathy typically manifesting with delayed motor development, proximal and distal asymmetric muscle weakness and atrophy of the lower and upper extremities, severe motor dysfunction with mildly reduced sensory impairment, and areflexia. Nerve conduction velocities range from very mildly to severely reduced. 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
Charcot-Marie-Tooth disease type 4J (disorder) Is a Charcot-Marie-Tooth disease type 4 (disorder) true Inferred relationship Some
Charcot-Marie-Tooth disease type 4J (disorder) Finding site Peripheral nervous system structure false Inferred relationship Some
Charcot-Marie-Tooth disease type 4J (disorder) Occurrence Congenital true Inferred relationship Some 1
Charcot-Marie-Tooth disease type 4J (disorder) Finding site Peripheral nervous system structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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