715798007: Charcot-Marie-Tooth disease type 4D (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 4\Charcot-Marie-Tooth disease type 4D

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Charcot-Marie-Tooth disease type 4\Charcot-Marie-Tooth disease type 4D

\Disorder of foetus and/or newborn\Congenital disease\Charcot-Marie-Tooth disease type 4\Charcot-Marie-Tooth disease type 4D

\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 4\Charcot-Marie-Tooth disease type 4D
\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 4\Charcot-Marie-Tooth disease type 4D
\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 4\Charcot-Marie-Tooth disease type 4D

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

3303743013 Charcot-Marie-Tooth disease type 4D (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3303748016 Charcot-Marie-Tooth disease type 4D en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3303749012 Hereditary motor and sensory neuropathy Lom type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5401102014 Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401103016 Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterised by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3303743013 Charcot-Marie-Tooth disease type 4D (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3303748016 Charcot-Marie-Tooth disease type 4D en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3303749012 Hereditary motor and sensory neuropathy Lom type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3303750012 Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4, a demyelinating hereditary motor and sensory neuropathy. Main features described as gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade and sensorineural deafness usually manifesting in the second or third decade of life. CMT4D was first reported in the Bulgarian Romani community of Lom and to date, has mainly been associated with the Roma population. CMT4D is caused by a single ancestral mutation (p.R148X) in the NDRG1 gene (8q24) coding for the NDRG1 protein that has a role in the peripheral nervous system, possibly in Schwann cell signaling necessary for axonal survival. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401102014 Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401103016 Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterised by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3448691001000116 Charcot-Marie-Tooth-Krankheit Typ 4D de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

917731000172112 CMT4D - Charcot-Marie-Tooth disease type 4D fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

952671000172112 maladie de Charcot-Marie-Tooth type 4D fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

917731000172112 CMT4D - Charcot-Marie-Tooth disease type 4D fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

952671000172112 maladie de Charcot-Marie-Tooth type 4D fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3448691001000116 Charcot-Marie-Tooth-Krankheit Typ 4D 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
Charcot-Marie-Tooth disease type 4D	Is a	Charcot-Marie-Tooth disease type 4	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 4D	Finding site	Peripheral nervous system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 4D	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Charcot-Marie-Tooth disease type 4D	Finding site	Peripheral nervous system structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

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
3303743013	Charcot-Marie-Tooth disease type 4D (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3303748016	Charcot-Marie-Tooth disease type 4D	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3303749012	Hereditary motor and sensory neuropathy Lom type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5401102014	Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401103016	Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterised by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3303743013	Charcot-Marie-Tooth disease type 4D (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3303748016	Charcot-Marie-Tooth disease type 4D	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3303749012	Hereditary motor and sensory neuropathy Lom type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303750012	Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4, a demyelinating hereditary motor and sensory neuropathy. Main features described as gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade and sensorineural deafness usually manifesting in the second or third decade of life. CMT4D was first reported in the Bulgarian Romani community of Lom and to date, has mainly been associated with the Roma population. CMT4D is caused by a single ancestral mutation (p.R148X) in the NDRG1 gene (8q24) coding for the NDRG1 protein that has a role in the peripheral nervous system, possibly in Schwann cell signaling necessary for axonal survival. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401102014	Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401103016	Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterised by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3448691001000116	Charcot-Marie-Tooth-Krankheit Typ 4D	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
917731000172112	CMT4D - Charcot-Marie-Tooth disease type 4D	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
952671000172112	maladie de Charcot-Marie-Tooth type 4D	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
917731000172112	CMT4D - Charcot-Marie-Tooth disease type 4D	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
952671000172112	maladie de Charcot-Marie-Tooth type 4D	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3448691001000116	Charcot-Marie-Tooth-Krankheit Typ 4D	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module