715802008: Charcot-Marie-Tooth disease type 4H (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 4\Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (including kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated.
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Charcot-Marie-Tooth disease type 4\Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (including kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated.
• \Disorder of foetus and/or newborn\Congenital disease\Charcot-Marie-Tooth disease type 4\Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (including kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated.
• \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 4\Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (including kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated.
• \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 4\Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (including kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated.
• \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 4\Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (including kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3303761016	Charcot-Marie-Tooth disease type 4H (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3303762011	Charcot-Marie-Tooth disease type 4H	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401110010	Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (including kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401111014	Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterised by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoaesthesia, and skeletal malformations (including kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3303761016	Charcot-Marie-Tooth disease type 4H (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3303762011	Charcot-Marie-Tooth disease type 4H	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3303763018	Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy. It has been described in 10 individuals from two large consanguineous families from Lebanon and Algeria. Onset occurs within the first two years of life with slowly progressive muscle weakness in the distal extremities. Other common features include delayed walking, an abnormal gait, scoliosis and pes equines with toe retraction. CMT4H is caused by mutations in the FGD4 gene (12p11.1). Transmitted in an autosomal recessive manner.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401110010	Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (including kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401111014	Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterised by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoaesthesia, and skeletal malformations (including kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3430901001000117	Charcot-Marie-Tooth-Krankheit Typ 4H	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
876661000172110	CMT4H - Charcot-Marie-Tooth disease type 4H	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
905101000172112	maladie de Charcot-Marie-Tooth type 4H	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
876661000172110	CMT4H - Charcot-Marie-Tooth disease type 4H	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
905101000172112	maladie de Charcot-Marie-Tooth type 4H	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3430901001000117	Charcot-Marie-Tooth-Krankheit Typ 4H	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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