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717013009: Autosomal dominant Charcot-Marie-Tooth disease type 2I (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3308184016 Autosomal dominant Charcot-Marie-Tooth disease type 2I (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3308185015 Autosomal dominant Charcot-Marie-Tooth disease type 2I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5401453016 A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401454010 A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterised by a late onset with severe sensory loss (paraesthesia and hypoaesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes. 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 2I (disorder) Is a Autosomal dominant hereditary disorder false Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2I (disorder) Is a Charcot-Marie-Tooth disease, type II (disorder) false Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2I (disorder) Finding site Peripheral nervous system structure true Inferred relationship Some 1
Autosomal dominant Charcot-Marie-Tooth disease type 2I (disorder) Associated morphology Atrophy true Inferred relationship Some 2
Autosomal dominant Charcot-Marie-Tooth disease type 2I (disorder) Finding site Nerve structure true Inferred relationship Some 2
Autosomal dominant Charcot-Marie-Tooth disease type 2I (disorder) Is a Autosomal dominant Charcot-Marie-Tooth disease type 2 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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