1230343006: Distal hereditary motor neuropathy type 2 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal dominant distal hereditary motor neuropathy (disorder)\A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved.
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\Autosomal dominant distal hereditary motor neuropathy (disorder)\A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved.
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal dominant distal hereditary motor neuropathy (disorder)\A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved.
• \Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral motor neuropathy\Autosomal dominant distal hereditary motor neuropathy (disorder)\A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved.
• \Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Autosomal dominant distal hereditary motor neuropathy (disorder)\A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved.
• \Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder\A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved.
• \Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral motor neuropathy\Autosomal dominant distal hereditary motor neuropathy (disorder)\A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved.
• \Chronic disease\Chronic nervous system disorder\A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5400155010	A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400156011	A rare autosomal dominant distal hereditary motor neuropathy characterised by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5069342019	Distal hereditary motor neuropathy type 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5069343012	Autosomal dominant distal spinal muscular atrophy type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5069344018	Distal hereditary motor neuropathy type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3414661001000113	Neuropathie, distale hereditäre motorische, Typ 2	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)

Back to Start