765747004: Autosomal dominant intermediate Charcot-Marie-Tooth disease type D (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\Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
• \Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Autosomal dominant intermediate Charcot-Marie-Tooth disease type D

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3659556012	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3659557015	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3658901012	A rare hereditary motor and sensory neuropathy with characteristics of intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.	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

Description inactivation indicator reference set

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