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1156835005: Autosomal dominant Charcot-Marie-Tooth disease type 2 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4576294017 Autosomal dominant Charcot-Marie-Tooth disease type 2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4576295016 Autosomal dominant Charcot-Marie-Tooth disease type 2 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

27 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant Charcot-Marie-Tooth disease type 2 Finding site Nerve structure true Inferred relationship Some 1
Autosomal dominant Charcot-Marie-Tooth disease type 2 Finding site Peripheral nervous system structure true Inferred relationship Some 2
Autosomal dominant Charcot-Marie-Tooth disease type 2 Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2 Associated morphology Atrophy true Inferred relationship Some 1
Autosomal dominant 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
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to kinesin family member 5A mutation (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2U (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2Q Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2F (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2G (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2K (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2L (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2M (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2N (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2B (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2C (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2D (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2E (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2I (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2J (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2O Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2W Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2Z Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2Y Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2V (disorder) Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2DD Is a True Autosomal dominant Charcot-Marie-Tooth disease type 2 Inferred relationship Some

This concept is not in any reference sets

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