398187000: Charcot-Marie-Tooth disease, type II (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)

\Degenerative disorder\Charcot-Marie-Tooth disease, type II (disorder)

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Charcot-Marie-Tooth disease, type II (disorder)	Is a	Charcot-Marie-Tooth disease	false	Inferred relationship	Some
Charcot-Marie-Tooth disease, type II (disorder)	Associated morphology	Neuropathic atrophy	false	Inferred relationship	Some	2
Charcot-Marie-Tooth disease, type II (disorder)	Associated morphology	Atrophy	false	Inferred relationship	Some	1
Charcot-Marie-Tooth disease, type II (disorder)	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	2
Charcot-Marie-Tooth disease, type II (disorder)	Finding site	Nerve structure	false	Inferred relationship	Some	1
Charcot-Marie-Tooth disease, type II (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Charcot-Marie-Tooth disease, type II (disorder)	Is a	Neuropathy (disorder)	true	Inferred relationship	Some
Charcot-Marie-Tooth disease, type II (disorder)	Is a	Neurological lesion	false	Inferred relationship	Some
Charcot-Marie-Tooth disease, type II (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Charcot-Marie-Tooth disease, type II (disorder)	Associated morphology	Atrophy	true	Inferred relationship	Some	1
Charcot-Marie-Tooth disease, type II (disorder)	Finding site	Nerve structure	true	Inferred relationship	Some	1
Charcot-Marie-Tooth disease, type II (disorder)	Associated morphology	Neuropathic atrophy	false	Inferred relationship	Some	2
Charcot-Marie-Tooth disease, type II (disorder)	Is a	Hereditary motor and sensory neuropathy (disorder)	true	Inferred relationship	Some
Charcot-Marie-Tooth disease, type II (disorder)	Is a	Degenerative disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (disorder)	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. It presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with onset associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. This disorder has a slowly progressive course.	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
An axonal Charcot-Marie-Tooth (CMT) peripheral sensorimotor polyneuropathy.	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy, characterized by congenital ptosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
A mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
A rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
A subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
A subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes.	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
A rare subtype of axonal hereditary motor and sensory neuropathy characterized by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy or childhood, and axonal swelling with neurofilament accumulation on nerve biopsy. Other features may include hand muscle involvement, hypo/areflexia, gait disturbances, muscle cramps, toe abnormalities and mild cardiomyopathy.	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
A rare, genetic, subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss, and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity.	Is a	False	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated.	Is a	True	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Autosomal recessive Charcot-Marie-Tooth disease type 2	Is a	True	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2	Is a	True	Charcot-Marie-Tooth disease, type II (disorder)	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
1766106011	Charcot-Marie-Tooth disease, type II (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1777741013	Charcot-Marie-Tooth disease, type II	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1786162017	Inherited neuronal peroneal muscular atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1786163010	Hereditary motor and sensory neuropathy type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1786164016	Peroneal muscular atrophy of neuronal type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2966551016	Charcot Marie Tooth disease, type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
318211000172115	maladie de Charcot-Marie-Tooth de type II	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module