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766977007: Severe early-onset axonal neuropathy due to mitofusin 2 deficiency (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
3663537014 Severe early-onset axonal neuropathy due to MFN2 (mitofusin 2) deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
3663538016 Severe early-onset axonal neuropathy due to MFN2 deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
3663539012 Autosomal recessive Charcot-Marie-Tooth disease Ouvrier type en Synonym Active Only initial character case insensitive SNOMED CT core module
3663540014 Severe early-onset axonal neuropathy due to mitofusin 2 deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3663541013 Severe early-onset axonal neuropathy due to mitofusin 2 deficiency en Synonym Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Severe early-onset axonal neuropathy due to mitofusin 2 deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Severe early-onset axonal neuropathy due to mitofusin 2 deficiency Is a Hereditary motor and sensory neuropathy true Inferred relationship Existential restriction modifier
Severe early-onset axonal neuropathy due to mitofusin 2 deficiency Finding site Peripheral nervous system structure true Inferred relationship Existential restriction modifier 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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