1187563003: Autosomal recessive Charcot-Marie-Tooth disease type 2X (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal recessive Charcot-Marie-Tooth disease type 2\Autosomal recessive Charcot-Marie-Tooth disease type 2X (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive Charcot-Marie-Tooth disease type 2\Autosomal recessive Charcot-Marie-Tooth disease type 2X (disorder)
• \Degenerative disorder\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal recessive Charcot-Marie-Tooth disease type 2\Autosomal recessive Charcot-Marie-Tooth disease type 2X (disorder)
• \Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal recessive Charcot-Marie-Tooth disease type 2\Autosomal recessive Charcot-Marie-Tooth disease type 2X (disorder)
• \Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal recessive Charcot-Marie-Tooth disease type 2\Autosomal recessive Charcot-Marie-Tooth disease type 2X (disorder)
• \Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal recessive Charcot-Marie-Tooth disease type 2\Autosomal recessive Charcot-Marie-Tooth disease type 2X (disorder)
• \Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal recessive Charcot-Marie-Tooth disease type 2\Autosomal recessive Charcot-Marie-Tooth disease type 2X (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674163011	Autosomal recessive Charcot-Marie-Tooth disease type 2X (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674164017	Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 (SPG11 vesicle trafficking associated, spatacsin) mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674165016	Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5399644017	A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399645016	A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterised by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
4674162018	Autosomal recessive Charcot-Marie-Tooth disease type 2X	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674163011	Autosomal recessive Charcot-Marie-Tooth disease type 2X (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674164017	Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 (SPG11 vesicle trafficking associated, spatacsin) mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674165016	Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399644017	A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399645016	A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterised by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3453251001000115	Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, Typ 2X	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5817751000241119	maladie de Charcot-Marie-Tooth autosomique récessive de type 2X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5817751000241119	maladie de Charcot-Marie-Tooth autosomique récessive de type 2X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3453251001000115	Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, Typ 2X	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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