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398040009: Charcot-Marie-Tooth disease, type I (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
1765959019 Charcot-Marie-Tooth disease, type I (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
1777611019 Charcot-Marie-Tooth disease, type I en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1786062015 Hereditary sensory-motor neuropathy, type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1786063013 Peroneal muscular atrophy of demyelinating type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1786064019 Inherited dominant hypertrophic neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1786065018 Hereditary motor and sensory neuropathy type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1786066017 Charcot-Marie-Tooth disease of demyelinating type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1786067014 HSMN, type I en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2966574017 Charcot Marie Tooth disease, type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3386401010 neuropathie sensitivo-motrice héréditaire de type I fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
368251000172118 neuropathie sensitivomotrice héréditaire type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
617961000172116 neuropathie sensitivomotrice héréditaire de type I fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3408851001000119 Charcot-Marie-Tooth-Krankheit Typ 1 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Charcot-Marie-Tooth disease, type I (disorder) Is a Charcot-Marie-Tooth disease false Inferred relationship Some
Charcot-Marie-Tooth disease, type I (disorder) Finding site Peripheral nervous system structure true Inferred relationship Some 1
Charcot-Marie-Tooth disease, type I (disorder) Associated morphology Neuropathic atrophy false Inferred relationship Some 1
Charcot-Marie-Tooth disease, type I (disorder) Finding site Skeletal muscle structure false Inferred relationship Some 1
Charcot-Marie-Tooth disease, type I (disorder) Finding site Skeletal muscle structure false Inferred relationship Some 1
Charcot-Marie-Tooth disease, type I (disorder) Associated morphology Neuropathic atrophy false Inferred relationship Some 1
Charcot-Marie-Tooth disease, type I (disorder) Is a Hereditary motor and sensory neuropathy (disorder) true Inferred relationship Some
Charcot-Marie-Tooth disease, type I (disorder) Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Charcot-Marie-Tooth disease, type IA Is a True Charcot-Marie-Tooth disease, type I (disorder) Inferred relationship Some
Charcot-Marie-Tooth disease, type IC Is a True Charcot-Marie-Tooth disease, type I (disorder) Inferred relationship Some
Charcot-Marie-Tooth disease, type IB Is a True Charcot-Marie-Tooth disease, type I (disorder) Inferred relationship Some
A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients. Is a True Charcot-Marie-Tooth disease, type I (disorder) Inferred relationship Some
Charcot-Marie-Tooth disease type 1D (CMT1D) is a form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis. Is a True Charcot-Marie-Tooth disease, type I (disorder) Inferred relationship Some
Charcot-Marie-Tooth disease type 1F (CMT1F) is a form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the demyelinating form of CMT2E and is caused by mutations in the NEFL gene (8p21.2). Is a True Charcot-Marie-Tooth disease, type I (disorder) Inferred relationship Some
A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs. Is a True Charcot-Marie-Tooth disease, type I (disorder) Inferred relationship Some

This concept is not in any reference sets

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