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1187620007: Autosomal dominant Charcot-Marie-Tooth disease type 2DD (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
4674394019 Autosomal dominant Charcot-Marie-Tooth disease type 2DD en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4674395018 Autosomal dominant Charcot-Marie-Tooth disease type 2DD (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4674396017 ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4674397014 ATP1A1 (ATPase Na+/K+ transporting subunit alpha 1) related autosomal dominant Charcot-Marie-Tooth disease type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant Charcot-Marie-Tooth disease type 2DD Is a Autosomal dominant Charcot-Marie-Tooth disease type 2 true Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2DD Finding site Peripheral nervous system structure true Inferred relationship Some 2
Autosomal dominant Charcot-Marie-Tooth disease type 2DD Finding site Nerve structure true Inferred relationship Some 1
Autosomal dominant Charcot-Marie-Tooth disease type 2DD Associated morphology Atrophy true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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