771144005: Hereditary motor and sensory neuropathy with acrodystrophy (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)\Hereditary motor and sensory neuropathy with acrodystrophy
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hereditary motor and sensory neuropathy with acrodystrophy
• \Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Hereditary motor and sensory neuropathy with acrodystrophy
• \Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Hereditary motor and sensory neuropathy with acrodystrophy
• \Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Hereditary motor and sensory neuropathy with acrodystrophy
• \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)\Hereditary motor and sensory neuropathy with acrodystrophy
• \Chronic disease\Chronic nervous system disorder (disorder)\Hereditary motor and sensory neuropathy with acrodystrophy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3704561018	Autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3704562013	Hereditary motor and sensory neuropathy with acrodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3704563015	Hereditary motor and sensory neuropathy with acrodystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3704564014	Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3703841011	A rare axonal hereditary motor and sensory neuropathy with characteristics of progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3704561018	Autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3704562013	Hereditary motor and sensory neuropathy with acrodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3704563015	Hereditary motor and sensory neuropathy with acrodystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3704564014	Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3703841011	A rare axonal hereditary motor and sensory neuropathy with characteristics of progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3393051001000114	Neuropathie, hereditäre motorisch-sensorische, mit Akrodystrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
949321000172111	neuropathie sensitivo-motrice axonale héréditaire avec acrodystrophie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
971921000172114	AR-CMT2 avec acrodystrophie	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
949321000172111	neuropathie sensitivo-motrice axonale héréditaire avec acrodystrophie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
971921000172114	AR-CMT2 avec acrodystrophie	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3393051001000114	Neuropathie, hereditäre motorisch-sensorische, mit Akrodystrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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