773330000: Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (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 recessive intermediate Charcot-Marie-Tooth disease type B
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
• \Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Autosomal recessive intermediate Charcot-Marie-Tooth disease type B

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723200019	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3723201015	RI-CMT type B - autosomal recessive intermediate Charcot-Marie-Tooth disease type B	en	Synonym	Active	Case sensitive	SNOMED CT core
3723202010	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3723203017	An extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterised by a CMT neuropathy associated with developmental delay, self-abusive behaviour, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.	en	Definition	Active	Case sensitive	SNOMED CT core
3723204011	An extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.	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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