763347000: X-linked Charcot-Marie-Tooth disease type 6 (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\X-linked hereditary motor and sensory neuropathy\X-linked Charcot-Marie-Tooth disease type 6
• \Sex-linked hereditary disorder\X-linked hereditary disease\...
• \X-linked dominant hereditary disease\X-linked Charcot-Marie-Tooth disease type 6
• \X-linked hereditary motor and sensory neuropathy\X-linked Charcot-Marie-Tooth disease type 6
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\X-linked hereditary motor and sensory neuropathy\X-linked Charcot-Marie-Tooth disease type 6
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\X-linked hereditary motor and sensory neuropathy\X-linked Charcot-Marie-Tooth disease type 6
• \Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\X-linked hereditary motor and sensory neuropathy\X-linked Charcot-Marie-Tooth disease type 6
• \Congenital disease\X-linked hereditary motor and sensory neuropathy\X-linked Charcot-Marie-Tooth disease type 6

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3638639011	X-linked Charcot-Marie-Tooth disease type 6 (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3638640013	X-linked Charcot-Marie-Tooth disease type 6	en	Synonym	Active	Case sensitive	SNOMED CT core
3638641012	A rare genetic principally axonal peripheral sensorimotor neuropathy with an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, pan modal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles).	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start