1172684002: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation (disorder)

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

\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation

\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 DGAT2 mutation
\Disease\Genetic disease\Hereditary disease\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 DGAT2 mutation
\Disease\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 DGAT2 mutation
\Disease\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 DGAT2 mutation
\Disease\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 DGAT2 mutation
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
\Disease\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 DGAT2 mutation
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
\Disease\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 DGAT2 mutation
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
\Disease\Disorder of soft tissue\Peripheral nerve disease\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4635253012 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4635254018 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4635255017 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4635261019 A rare autosomal dominant hereditary axonal motor and sensory neuropathy with characteristics of childhood onset of slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs, associated with sensory impairment and ataxia presenting with an unsteady, broad-based gait and frequent falls. Additional signs include decreased deep tendon reflexes and hand tremor. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

9999691000172117 maladie de Charcot-Marie-Tooth autosomique dominante de type 2 due à une mutation du gène codant la DGAT2 (diacylglycérol O-acyltransférase 2) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

9999701000172117 maladie de Charcot-Marie-Tooth autosomique dominante de type 2 due à une mutation du gène codant la diacylglycérol O-acyltransférase 2 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7502121000172115 autosomaal dominante HMSN2 door DGAT2-mutatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7502131000172117 autosomaal dominante motorische en sensorische neuropathie type 2 door mutatie van diacylglycerol-O-acyltransferase 2 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7502141000172112 autosomaal dominante motorische en sensorische neuropathie type 2 door DGAT2-mutatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7502151000172114 autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 door DGAT2-mutatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7502161000172111 autosomaal dominante CMT2 door DGAT2-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 DGAT2 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 DGAT2 mutation	Is a	Chronic nervous system disorder (disorder)	true	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation	Is a	Peripheral nerve disease	true	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation	Finding site	Peripheral nerve structure	true	Inferred relationship	Some	3
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation	Finding site	Nerve structure	true	Inferred relationship	Some	1
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation	Associated morphology	Atrophy	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4635253012	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4635254018	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4635255017	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4635261019	A rare autosomal dominant hereditary axonal motor and sensory neuropathy with characteristics of childhood onset of slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs, associated with sensory impairment and ataxia presenting with an unsteady, broad-based gait and frequent falls. Additional signs include decreased deep tendon reflexes and hand tremor.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
9999691000172117	maladie de Charcot-Marie-Tooth autosomique dominante de type 2 due à une mutation du gène codant la DGAT2 (diacylglycérol O-acyltransférase 2)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
9999701000172117	maladie de Charcot-Marie-Tooth autosomique dominante de type 2 due à une mutation du gène codant la diacylglycérol O-acyltransférase 2	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7502121000172115	autosomaal dominante HMSN2 door DGAT2-mutatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7502131000172117	autosomaal dominante motorische en sensorische neuropathie type 2 door mutatie van diacylglycerol-O-acyltransferase 2	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7502141000172112	autosomaal dominante motorische en sensorische neuropathie type 2 door DGAT2-mutatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7502151000172114	autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 door DGAT2-mutatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7502161000172111	autosomaal dominante CMT2 door DGAT2-mutatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)