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

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation

\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation

\Degenerative disorder\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation

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

4674181014 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) 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 Only initial character case insensitive (core metadata concept) SNOMED CT core

4674193017 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to trafficking from endoplasmic reticulum to golgi regulator mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

10027551000172118 maladie de Charcot-Marie-Tooth autosomique dominante de type 2 due à une mutation du gène codant la TFG (trafficking from endoplasmic reticulum to golgi regulator) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

10027561000172116 maladie de Charcot-Marie-Tooth autosomique dominante de type 2 due à une mutation du gène codant la 'trafficking from endoplasmic reticulum to golgi regulator' fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7210671000172116 autosomaal dominante HMSN 2 door TFG-mutatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7210681000172118 autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 door TFG-mutatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7210691000172115 autosomaal dominante CMT 2 door TFG-mutatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7210701000172115 autosomaal dominante motorische en sensorische neuropathie type 2 door mutatie van 'trafficking from endoplasmic reticulum to golgi regulator' nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7210711000172117 autosomaal dominante motorische en sensorische neuropathie type 2 door TFG-mutatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

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

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4674181014	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674193017	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to trafficking from endoplasmic reticulum to golgi regulator mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
10027551000172118	maladie de Charcot-Marie-Tooth autosomique dominante de type 2 due à une mutation du gène codant la TFG (trafficking from endoplasmic reticulum to golgi regulator)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
10027561000172116	maladie de Charcot-Marie-Tooth autosomique dominante de type 2 due à une mutation du gène codant la 'trafficking from endoplasmic reticulum to golgi regulator'	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7210671000172116	autosomaal dominante HMSN 2 door TFG-mutatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7210681000172118	autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 door TFG-mutatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7210691000172115	autosomaal dominante CMT 2 door TFG-mutatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7210701000172115	autosomaal dominante motorische en sensorische neuropathie type 2 door mutatie van 'trafficking from endoplasmic reticulum to golgi regulator'	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7210711000172117	autosomaal dominante motorische en sensorische neuropathie type 2 door TFG-mutatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)