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763460007: X-linked Charcot-Marie-Tooth disease type 5 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3642524012 X-linked Charcot-Marie-Tooth disease type 5 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3642525013 X-linked Charcot-Marie-Tooth disease type 5 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404078012 A rare form of X-linked Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by infancy- to childhood-onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral, profound, prelingual sensorineural hearing loss and progressive optic neuropathy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404079016 A rare form of X-linked Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterised by infancy- to childhood-onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral, profound, prelingual sensorineural hearing loss and progressive optic neuropathy. 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
X-linked Charcot-Marie-Tooth disease type 5 (disorder) Is a X-linked hereditary motor and sensory neuropathy true Inferred relationship Some
X-linked Charcot-Marie-Tooth disease type 5 (disorder) Occurrence Congenital true Inferred relationship Some 1
X-linked Charcot-Marie-Tooth disease type 5 (disorder) Finding site Peripheral nervous system structure true Inferred relationship Some 1
X-linked Charcot-Marie-Tooth disease type 5 (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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