1187617004: Charcot-Marie-Tooth disease type 2S (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 recessive Charcot-Marie-Tooth disease type 2\Charcot-Marie-Tooth disease type 2S
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive Charcot-Marie-Tooth disease type 2\Charcot-Marie-Tooth disease type 2S
• \Degenerative disorder\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal recessive Charcot-Marie-Tooth disease type 2\Charcot-Marie-Tooth disease type 2S
• \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 recessive Charcot-Marie-Tooth disease type 2\Charcot-Marie-Tooth disease type 2S
• \Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal recessive Charcot-Marie-Tooth disease type 2\Charcot-Marie-Tooth disease type 2S
• \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 recessive Charcot-Marie-Tooth disease type 2\Charcot-Marie-Tooth disease type 2S
• \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 recessive Charcot-Marie-Tooth disease type 2\Charcot-Marie-Tooth disease type 2S

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
4674375012	Charcot-Marie-Tooth disease type 2S	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4674376013	Charcot-Marie-Tooth disease type 2S (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399658015	A rare subtype of axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop, and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. Scoliosis and variable autonomic disturbances may be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399659011	A rare subtype of axonal hereditary motor and sensory neuropathy characterised by progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop, and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. Scoliosis and variable autonomic disturbances may be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4674375012	Charcot-Marie-Tooth disease type 2S	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4674376013	Charcot-Marie-Tooth disease type 2S (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4674377016	A rare subtype of axonal hereditary motor and sensory neuropathy with characteristics of progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. Scoliosis and variable autonomic disturbances may be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399658015	A rare subtype of axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop, and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. Scoliosis and variable autonomic disturbances may be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399659011	A rare subtype of axonal hereditary motor and sensory neuropathy characterised by progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop, and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. Scoliosis and variable autonomic disturbances may be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3386301001000119	Charcot-Marie-Tooth-Krankheit Typ 2S	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5760311000241119	maladie de Charcot-Marie-Tooth autosomique dominante type 2S	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5760321000241114	neuropathie sensitivomotrice héréditaire de type 2S	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5760331000241111	maladie de Charcot-Marie-Tooth axonale autosomique dominante de type 2S	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5760311000241119	maladie de Charcot-Marie-Tooth autosomique dominante type 2S	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5760321000241114	neuropathie sensitivomotrice héréditaire de type 2S	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5760331000241111	maladie de Charcot-Marie-Tooth axonale autosomique dominante de type 2S	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3386301001000119	Charcot-Marie-Tooth-Krankheit Typ 2S	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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