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717014003: Autosomal dominant Charcot-Marie-Tooth disease type 2J (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3308187011 Autosomal dominant Charcot-Marie-Tooth disease type 2J (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
3308188018 Autosomal dominant Charcot-Marie-Tooth disease type 2J en Synonym Active Initial character case insensitive SNOMED CT core
3308189014 A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. Relatively late onset papillary abnormalities and deafness in most patients associated with distal weakness and muscle atrophy. 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 2J Is a Autosomal dominant Charcot-Marie-Tooth disease type 2 true Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2J Is a Autosomal dominant hereditary disorder false Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2J Is a Charcot-Marie-Tooth disease, type II false Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2J Finding site Peripheral nervous system structure true Inferred relationship Some 1
Autosomal dominant Charcot-Marie-Tooth disease type 2J Associated morphology Atrophy true Inferred relationship Some 2
Autosomal dominant Charcot-Marie-Tooth disease type 2J 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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