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

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

Descriptions:

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

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 Some 1
Autosomal recessive Charcot-Marie-Tooth disease type 2 Is a Congenital disease (disorder) false Inferred relationship Some
Autosomal recessive Charcot-Marie-Tooth disease type 2 Finding site Nerve structure true Inferred relationship Some 1
Autosomal recessive Charcot-Marie-Tooth disease type 2 Finding site Peripheral nervous system structure true Inferred relationship Some 2
Autosomal recessive Charcot-Marie-Tooth disease type 2 Associated morphology Atrophy true Inferred relationship Some 1
Autosomal recessive Charcot-Marie-Tooth disease type 2 Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Autosomal recessive Charcot-Marie-Tooth disease type 2 Is a Charcot-Marie-Tooth disease, type II (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Charcot-Marie-Tooth disease type 2T (disorder) Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Charcot-Marie-Tooth disease type 2B5 Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Charcot-Marie-Tooth disease type 2R Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Charcot-Marie-Tooth disease type 2B2 (disorder) Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Charcot-Marie-Tooth disease type 2H (disorder) Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder) Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Charcot-Marie-Tooth disease type 2B1 (disorder) Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Autosomal recessive Charcot-Marie-Tooth disease type 2X Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Charcot-Marie-Tooth disease type 2S Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Some
DNAJB2-related Charcot-Marie-Tooth disease type 2 Is a True Autosomal recessive Charcot-Marie-Tooth disease type 2 Inferred relationship Some

This concept is not in any reference sets

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