720638000: Charcot-Marie-Tooth disease type 4J (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\Charcot-Marie-Tooth disease type 4\Charcot-Marie-Tooth disease type 4J
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Charcot-Marie-Tooth disease type 4\Charcot-Marie-Tooth disease type 4J
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Charcot-Marie-Tooth disease type 4\Charcot-Marie-Tooth disease type 4J
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Charcot-Marie-Tooth disease type 4\Charcot-Marie-Tooth disease type 4J
• \Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Charcot-Marie-Tooth disease type 4\Charcot-Marie-Tooth disease type 4J
• \Congenital disease\Charcot-Marie-Tooth disease type 4\Charcot-Marie-Tooth disease type 4J

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3321624018	Charcot-Marie-Tooth disease type 4J (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3321625017	Charcot-Marie-Tooth disease type 4J	en	Synonym	Active	Case sensitive	SNOMED CT core
3321626016	Belongs to the genetically heterogeneous group of Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy diseases, rare with only five patients reported in the literature so far. The syndrome has characteristics of rapidly progressive, asymmetric motor neuron degeneration with slow nerve conduction velocities, weakness and paralysis, without sensory loss. It is caused by mutations in the FIG4 gene (6q21). This gene encodes the enzyme polyphosphoinositide phosphatase. Transmitted in an autosomal recessive manner.	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

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