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765046002: Autosomal dominant Charcot-Marie-Tooth disease type 2U (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3656357017 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation en Synonym Active Only initial character case insensitive SNOMED CT core module
3656358010 Autosomal dominant Charcot-Marie-Tooth disease type 2U (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
3656359019 Autosomal dominant Charcot-Marie-Tooth disease type 2U en Synonym Active Only initial character case insensitive SNOMED CT core module
3656360012 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS (methionyl-tRNA synthetase) mutation en Synonym Active Only initial character case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant Charcot-Marie-Tooth disease type 2U Is a Autosomal dominant hereditary disorder false Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2U Is a Charcot-Marie-Tooth disease, type II false Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2U Finding site Peripheral nervous system structure true Inferred relationship Existential restriction modifier 2
Autosomal dominant Charcot-Marie-Tooth disease type 2U Associated morphology Atrophy true Inferred relationship Existential restriction modifier 1
Autosomal dominant Charcot-Marie-Tooth disease type 2U Finding site Nerve structure true Inferred relationship Existential restriction modifier 1
Autosomal dominant Charcot-Marie-Tooth disease type 2U Is a Autosomal dominant Charcot-Marie-Tooth disease type 2 true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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