717011006: Autosomal dominant Charcot-Marie-Tooth disease type 2D (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.

\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant Charcot-Marie-Tooth disease type 2\A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.

\Degenerative disorder\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.

\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.
\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.
\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.
\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3308178019 Autosomal dominant Charcot-Marie-Tooth disease type 2D (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3308179010 Autosomal dominant Charcot-Marie-Tooth disease type 2D en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5401450018 A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401451019 A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterised by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3308178019 Autosomal dominant Charcot-Marie-Tooth disease type 2D (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3308179010 Autosomal dominant Charcot-Marie-Tooth disease type 2D en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3308180013 A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with distal weakness primarily and predominantly occurring in the upper limbs.Tendon reflexes are absent or reduced in the arms and decreased in the legs. Progression is slow. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401450018 A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401451019 A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterised by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3429141001000114 Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2D de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

880501000172117 maladie de Charcot-Marie-Tooth autosomique dominante type 2D fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

922721000172117 CMT2D - Charcot-Marie-Tooth disease type 2D fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

880501000172117 maladie de Charcot-Marie-Tooth autosomique dominante type 2D fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

922721000172117 CMT2D - Charcot-Marie-Tooth disease type 2D fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3429141001000114 Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2D de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.	Is a	Charcot-Marie-Tooth disease, type II (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.	Finding site	Peripheral nervous system structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.	Associated morphology	Atrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.	Finding site	Nerve structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.	Is a	Autosomal dominant Charcot-Marie-Tooth disease type 2	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3308178019	Autosomal dominant Charcot-Marie-Tooth disease type 2D (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308179010	Autosomal dominant Charcot-Marie-Tooth disease type 2D	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5401450018	A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401451019	A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterised by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3308178019	Autosomal dominant Charcot-Marie-Tooth disease type 2D (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308179010	Autosomal dominant Charcot-Marie-Tooth disease type 2D	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308180013	A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with distal weakness primarily and predominantly occurring in the upper limbs.Tendon reflexes are absent or reduced in the arms and decreased in the legs. Progression is slow.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401450018	A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401451019	A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterised by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3429141001000114	Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2D	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
880501000172117	maladie de Charcot-Marie-Tooth autosomique dominante type 2D	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
922721000172117	CMT2D - Charcot-Marie-Tooth disease type 2D	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
880501000172117	maladie de Charcot-Marie-Tooth autosomique dominante type 2D	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
922721000172117	CMT2D - Charcot-Marie-Tooth disease type 2D	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3429141001000114	Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2D	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module