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1187563003: Autosomal recessive Charcot-Marie-Tooth disease type 2X (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
4674162018 Autosomal recessive Charcot-Marie-Tooth disease type 2X en Synonym Active Only initial character case insensitive SNOMED CT core module
4674163011 Autosomal recessive Charcot-Marie-Tooth disease type 2X (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
4674164017 Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 (SPG11 vesicle trafficking associated, spatacsin) mutation en Synonym Active Only initial character case insensitive SNOMED CT core module
4674165016 Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 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 recessive Charcot-Marie-Tooth disease type 2X Finding site Peripheral nervous system structure true Inferred relationship Existential restriction modifier 1
Autosomal recessive Charcot-Marie-Tooth disease type 2X Is a Autosomal recessive Charcot-Marie-Tooth disease type 2 true Inferred relationship Existential restriction modifier
Autosomal recessive Charcot-Marie-Tooth disease type 2X Finding site Nerve structure true Inferred relationship Existential restriction modifier 2
Autosomal recessive Charcot-Marie-Tooth disease type 2X Associated morphology Atrophy true Inferred relationship Existential restriction modifier 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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