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725047007: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3437442017 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3437443010 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3437444016 Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5403377015 A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy. 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 recessive Charcot-Marie-Tooth disease with hoarseness (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder) Is a Charcot-Marie-Tooth disease, type II (disorder) false Inferred relationship Some
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder) Finding site Peripheral nervous system structure true Inferred relationship Some 1
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder) Associated morphology Atrophy true Inferred relationship Some 2
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder) Finding site Nerve structure true Inferred relationship Some 2
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder) Is a Autosomal recessive 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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