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717016001: Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (disorder)


Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3308193015 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
3308194014 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 en Synonym Active Initial character case insensitive SNOMED CT core
3308195010 A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. Presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 Is a Autosomal dominant Charcot-Marie-Tooth disease type 2 true Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 Is a Autosomal dominant hereditary disorder false Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 Is a Charcot-Marie-Tooth disease, type II false Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 Finding site Peripheral nervous system structure true Inferred relationship Some 1
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 Associated morphology Atrophy true Inferred relationship Some 2
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 Finding site Nerve structure true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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