773308001: Autosomal recessive intermediate Charcot-Marie-Tooth disease type A (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 A
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
• \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 A
• \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 A
• \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 A

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723070013	RI-CMT type A - autosomal recessive intermediate Charcot-Marie-Tooth disease type A	en	Synonym	Active	Case sensitive	SNOMED CT core
3723071012	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3723072017	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3723073010	A subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease with characteristics of severe, early childhood-onset Charcot-Marie-Tooth neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology. Caused by homozygous mutation in the GDAP1 gene on chromosome 8q21.	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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