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1156852009: Autosomal recessive Charcot-Marie-Tooth disease type 2 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 30-Nov 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
4576330010 Autosomal recessive Charcot-Marie-Tooth disease type 2 en Synonym Active Only initial character case insensitive SNOMED CT core module
4576331014 Autosomal recessive Charcot-Marie-Tooth disease type 2 (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

10 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive Charcot-Marie-Tooth disease type 2 Occurrence Congenital false Inferred relationship Existential restriction modifier 1
Autosomal recessive Charcot-Marie-Tooth disease type 2 Is a Congenital disease false Inferred relationship Existential restriction modifier
Autosomal recessive Charcot-Marie-Tooth disease type 2 Finding site Nerve structure true Inferred relationship Existential restriction modifier 1
Autosomal recessive Charcot-Marie-Tooth disease type 2 Finding site Peripheral nervous system structure true Inferred relationship Existential restriction modifier 2
Autosomal recessive Charcot-Marie-Tooth disease type 2 Associated morphology Atrophy true Inferred relationship Existential restriction modifier 1
Autosomal recessive Charcot-Marie-Tooth disease type 2 Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Autosomal recessive Charcot-Marie-Tooth disease type 2 Is a Charcot-Marie-Tooth disease, type II true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Charcot-Marie-Tooth disease type 2T Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease type 2B5 Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease type 2R Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease type 2B2 Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease type 2H Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease type 2B1 Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Autosomal recessive Charcot-Marie-Tooth disease type 2X Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease type 2S Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier
DnaJ heat shock protein family (Hsp40) member B2-related Charcot-Marie-Tooth disease type 2 Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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