719511005: Autosomal dominant Charcot-Marie-Tooth disease type 2G (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 2G (disorder)

\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2G (disorder)

\Degenerative disorder\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2G (disorder)

\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 2G (disorder)
\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 2G (disorder)
\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 2G (disorder)
\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 2G (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3316641018 Autosomal dominant Charcot-Marie-Tooth disease type 2G (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3316642013 Autosomal dominant Charcot-Marie-Tooth disease type 2G en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3316643015 A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with onset associated with development of foot deformity and walking difficulties between the first and the eighth decades. Weakness and sensory loss involve primarily the legs and ankles, tendon reflexes are reduced. The disease has a slowly progressive course. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

883731000172114 CMT2G - Charcot-Marie-Tooth disease type 2G fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

991981000172119 maladie de Charcot-Marie-Tooth autosomique dominante type 2G fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

896671000172113 autosomaal dominante ziekte van Charcot-Marie-Tooth type 2G nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

1012001000172113 CMT2G - Charcot-Marie-Tooth disease type 2G nl Synonym (core metadata concept) Active Entire term case sensitive (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 2G (disorder)	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2G (disorder)	Is a	Charcot-Marie-Tooth disease, type II (disorder)	false	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2G (disorder)	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	1
Autosomal dominant Charcot-Marie-Tooth disease type 2G (disorder)	Associated morphology	Atrophy	true	Inferred relationship	Some	2
Autosomal dominant Charcot-Marie-Tooth disease type 2G (disorder)	Finding site	Nerve structure	true	Inferred relationship	Some	2
Autosomal dominant Charcot-Marie-Tooth disease type 2G (disorder)	Is a	Autosomal dominant Charcot-Marie-Tooth disease type 2	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3316641018	Autosomal dominant Charcot-Marie-Tooth disease type 2G (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3316642013	Autosomal dominant Charcot-Marie-Tooth disease type 2G	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3316643015	A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with onset associated with development of foot deformity and walking difficulties between the first and the eighth decades. Weakness and sensory loss involve primarily the legs and ankles, tendon reflexes are reduced. The disease has a slowly progressive course.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
883731000172114	CMT2G - Charcot-Marie-Tooth disease type 2G	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
991981000172119	maladie de Charcot-Marie-Tooth autosomique dominante type 2G	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
896671000172113	autosomaal dominante ziekte van Charcot-Marie-Tooth type 2G	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
1012001000172113	CMT2G - Charcot-Marie-Tooth disease type 2G	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)