717008005: Autosomal dominant Charcot-Marie-Tooth disease type 2B (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\A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.

\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.

\Degenerative disorder\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.

\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\A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.
\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\A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.
\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\A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.
\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\A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.

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

5401446013 A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401447016 A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterised by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3308169013 Autosomal dominant Charcot-Marie-Tooth disease type 2B (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3308170014 Autosomal dominant Charcot-Marie-Tooth disease type 2B en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

934261000172113 maladie de Charcot-Marie-Tooth autosomique dominante type 2B fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

966211000172114 CMT2B - Charcot-Marie-Tooth disease type 2B fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3440211001000111 Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2B 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 severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.	Is a	Autosomal dominant hereditary disorder (disorder)	false	Inferred relationship	Some
A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.	Is a	Charcot-Marie-Tooth disease, type II (disorder)	false	Inferred relationship	Some
A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	1
A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.	Associated morphology	Atrophy	true	Inferred relationship	Some	2
A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.	Finding site	Nerve structure	true	Inferred relationship	Some	2
A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.	Is a	Autosomal dominant Charcot-Marie-Tooth disease type 2	true	Inferred relationship	Some

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

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Id	Description	Lang	Type	Status	Case?	Module
5401446013	A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401447016	A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterised by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3308169013	Autosomal dominant Charcot-Marie-Tooth disease type 2B (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308170014	Autosomal dominant Charcot-Marie-Tooth disease type 2B	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
934261000172113	maladie de Charcot-Marie-Tooth autosomique dominante type 2B	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
966211000172114	CMT2B - Charcot-Marie-Tooth disease type 2B	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3440211001000111	Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2B	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module