1187563003: Autosomal recessive Charcot-Marie-Tooth disease type 2X (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 recessive Charcot-Marie-Tooth disease type 2\Autosomal recessive Charcot-Marie-Tooth disease type 2X
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive Charcot-Marie-Tooth disease type 2\Autosomal recessive Charcot-Marie-Tooth disease type 2X
• \Degenerative disorder\Charcot-Marie-Tooth disease, type II\Autosomal recessive Charcot-Marie-Tooth disease type 2\Autosomal recessive Charcot-Marie-Tooth disease type 2X
• \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 recessive Charcot-Marie-Tooth disease type 2\Autosomal recessive Charcot-Marie-Tooth disease type 2X
• \Disorder of body system\Neurological disorder\Neuropathy\Charcot-Marie-Tooth disease, type II\Autosomal recessive Charcot-Marie-Tooth disease type 2\Autosomal recessive Charcot-Marie-Tooth disease type 2X
• \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 recessive Charcot-Marie-Tooth disease type 2\Autosomal recessive Charcot-Marie-Tooth disease type 2X
• \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 recessive Charcot-Marie-Tooth disease type 2\Autosomal recessive Charcot-Marie-Tooth disease type 2X

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4674162018	Autosomal recessive Charcot-Marie-Tooth disease type 2X	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4674163011	Autosomal recessive Charcot-Marie-Tooth disease type 2X (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
4674164017	Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 (SPG11 vesicle trafficking associated, spatacsin) mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4674165016	Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4674166015	A rare autosomal recessive axonal hereditary motor and sensory neuropathy with characteristics of childhood to adult onset of slowly progressive, sometimes asymmetric distal muscle weakness and atrophy, as well as sensory impairment, predominantly of the lower limbs. Additional common features include pes cavus, kyphoscoliosis, ankle contractures, tremor or urogenital dysfunction. Fasciculations and proximal involvement may be seen in some cases. Patients usually remain ambulatory.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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