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1187566006: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to trafficking from endoplasmic reticulum to golgi regulator mutation (disorder)


Status: current, Primitive. Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4674181014 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation en Synonym Active Initial character case insensitive SNOMED CT core
4674192010 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to trafficking from endoplasmic reticulum to golgi regulator mutation (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
4674193017 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to trafficking from endoplasmic reticulum to golgi regulator mutation en Synonym Active Initial character case insensitive SNOMED CT core
4674184018 A rare axonal hereditary motor and sensory neuropathy with characteristics of adult onset of slowly progressive distal muscle weakness and atrophy, decreased deep tendon reflexes of lower limbs and mild distal sensory loss leading to gait difficulties in most patients. 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 2 due to TFG mutation Is a Autosomal dominant Charcot-Marie-Tooth disease type 2 true Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation Finding site Peripheral nervous system structure true Inferred relationship Some 2
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation Finding site Nerve structure true Inferred relationship Some 1
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation Associated morphology Atrophy true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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