1187564009: Autosomal dominant Charcot-Marie-Tooth disease type 2Z (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 II\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2Z
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2Z
• \Degenerative disorder\Charcot-Marie-Tooth disease, type II\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2Z
• \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 II\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2Z
• \Disorder of body system\Neurological disorder\Neuropathy\Charcot-Marie-Tooth disease, type II\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2Z
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Charcot-Marie-Tooth disease, type II\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2Z
• \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 II\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2Z

Status: current, Primitive. Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4674169010	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4674170011	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4674171010	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 (MORC family CW-type zinc finger 2) mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4674172015	Autosomal dominant Charcot-Marie-Tooth disease type 2Z (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
4674173013	A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterised by early onset of generalised hypotonia and weakness, or later onset of distal lower limb muscle weakness and atrophy, cramps and sensory impairment. Weakness and atrophy progress in an asymmetric fashion to also involve the proximal and upper limbs in the course of the disease. Additional features are pyramidal signs like increased muscle tone and extensor plantar reflexes as well as learning difficulties.	en	Definition	Active	Case sensitive	SNOMED CT core
4674174019	A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by early onset of generalized hypotonia and weakness, or later onset of distal lower limb muscle weakness and atrophy, cramps and sensory impairment. Weakness and atrophy progress in an asymmetric fashion to also involve the proximal and upper limbs in the course of the disease. Additional features are pyramidal signs like increased muscle tone and extensor plantar reflexes as well as learning difficulties.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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