charcot-marie-tooth disease

Preferred Label : charcot-marie-tooth disease;

MeSH definition : A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343);

MeSH synonym : muscular atrophies, peroneal; atrophy, peroneal muscular; charcot-marie disease; atrophies, peroneal muscular; muscular atrophy, peroneal; atrophy, muscular, peroneal; peroneal muscular atrophy; charcot marie disease; peroneal muscular atrophies; charcot marie tooth disease; Charcot-Marie-Tooth syndrome; charcot marie tooth syndrome; syndrome, Charcot-Marie-Tooth; Charcot-Marie-Tooth hereditary neuropathy; charcot marie tooth hereditary neuropathy; hereditary neuropathy, Charcot-Marie-Tooth;

CISMeF synonym : is, hmsn; ii, hmsn; iis, hmsn type; iis, hmsn; type is, hmsn; i, hmsn; is, hmsn type; charcot-marie-tooth's disease; hereditary motor and sensory neuropathy I; HMSN 1As; HMSN 1Bs; HMSN IIs; HMSN is; HMSN type IIs; HMSN type is;

CISMeF acronym : CMT;

MeSH hyponym : type iis, hmsn; 1B, HMSN; 1Bs, HMSN; 1A, HMSN; 1As, HMSN; HMSN type II; Charcot-Marie-Tooth disease, type ia; hereditary type I motor and sensory neuropathy; Charcot-Marie-Tooth disease, type ib; Hereditary Motor, and Sensory Neuropathy Type I; Neuropathy, Type I Hereditary Motor and Sensory; HMSN I; HMSN Type I; Charcot-Marie-Tooth Disease, Type I; Charcot Marie Tooth Disease, Type I; HMN Distal Type I; Neuropathy, Type II Hereditary Motor and Sensory; HMSN II; Charcot-Marie-Tooth Disease, Type II; Charcot Marie Tooth Disease, Type II; Hereditary Motor and Sensory-Neuropathy Type II; Hereditary Motor and Sensory Neuropathy Type II; Charcot Marie Tooth Disease, Type IA; Charcot-Marie-Tooth Disease, Demyelinating, Type 1A; Charcot-Marie-Tooth Disease, Type 1A; Charcot Marie Tooth Disease, Type 1A; HMSN1A; Hereditary Motor and Sensory Neuropathy 1A; Hereditary Motor and Sensory Neuropathy IA; HMSN 1A; HMSN IA; Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1A; Charcot-Marie-Tooth Neuropathy, Type 1A; Charcot Marie Tooth Neuropathy, Type 1A; Charcot Marie Tooth Disease, Type IB; Charcot-Marie-Tooth Disease, Demyelinating, Type 1B; Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy; Charcot-Marie-Tooth Disease, Type 1B; Charcot Marie Tooth Disease, Type 1B; HMSN1B; Hereditary Motor and Sensory Neuropathy 1B; Hereditary Motor And Sensory Neuropathy IB; HMSN 1B; HMSN IB; Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1B; Charcot-Marie-Tooth Neuropathy, Type 1B; Charcot Marie Tooth Neuropathy, Type 1B;

Related MeSH term : Roussy-Levy syndrome; Roussy Levy Syndrome; Syndrome, Roussy-Levy; Roussy-Levy Hereditary Areflexic Dystasia; Roussy-Levy Disease; Roussy Levy Disease; Hereditary Areflexic Dystasia; Areflexic Dystasia, Hereditary; Areflexic Dystasias, Hereditary; Dystasia, Hereditary Areflexic; Dystasias, Hereditary Areflexic; Hereditary Areflexic Dystasias; Roussy Levy Hereditary Areflexic Dystasia;

Wikipedia link : https://en.wikipedia.org/wiki/Peroneal muscular atrophy;

Details

Origin ID

D002607;

UMLS CUI

C0007959;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth Disease Type 1A [NCIt concept]
- Charcot-Marie-Tooth disease type 1 [ORDO Disease]
- Charcot-Marie-Tooth disease type 1A [ORDO Disease]
- Charcot-Marie-Tooth disease type 1B [ICD-11 More detail]
- Charcot-Marie-Tooth disease type 1B [ORDO Disease]
- Charcot-Marie-Tooth disease, type I (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, type IA (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, type IB (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, type II (disorder) [SNOMED CT concept]
- Charcot-marie-tooth disease, demyelinating, type 1a [OMIM Phenotype]
- Charcot-marie-tooth disease, demyelinating, type 1b [OMIM Phenotype]
- Charcot-marie-tooth disease, demyelinating, type 1d [OMIM Phenotype]
- Distal Hereditary Motor Neuronopathy Type I [NCIt concept]
- Distal hereditary motor neuropathy type 1 [ICD-11 More detail]
- Distal hereditary motor neuropathy type 1 [ORDO Disease]
- Distal hereditary motor neuropathy type 1 (disorder) [SNOMED CT concept]
- Hereditary areflexic dystasia [MedDRA Preferred Term]
- Hereditary motor and sensory neuropathy V [OMIM Phenotype]
- How Often Experienced Aching Feeling in Your Breast Area [NCIt concept]
- How Often Experienced Nagging Feeling in Your Breast Area [NCIt concept]
- How Often Experienced Throbbing Feeling in Your Breast Area [NCIt concept]
- NPI - Aberrant Motor Behavior Distress [NCIt concept]
- Neuronopathy, distal hereditary motor, autosomal dominant 1 [OMIM Phenotype]
- Peroneal muscle atrophy [HPO term]
- Roussy-Levy syndrome [ICD-11 More detail]
- Type I hereditary motor and sensory neuropathy [HPO term]
- charcot-marie-tooth disease, type i [SNOMED Notion]
- charcot-marie-tooth disease, type ia [SNOMED Notion]
- charcot-marie-tooth disease, type ib [SNOMED Notion]
- charcot-marie-tooth disease, type ii [SNOMED Notion]
CISMeF manual mappings
- Roussy-Lévy syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Charcot Marie Tooth disease [PASCAL descriptor]
- Charcot Marie Tooth disease [Disease (Nov.)]
- Charcot-Marie-Tooth Disease [NCIt concept]
- Charcot-Marie-Tooth disease [DO Concept]
- Charcot-Marie-Tooth disease [Radlex concept]
- Charcot-Marie-Tooth disease [MedDRA LLT]
- Charcot-Marie-Tooth disease (disorder) [Inactive SNOMED CT concept]
- Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy [ORDO Disease]
- Charcot-marie-tooth disease [OMIM phenotypic series]
- Hereditary motor and sensory neuropathy [ICD-10 Sub-category]
- Hereditary motor and sensory neuropathy [ORDO Disease]
- Hereditary motor and sensory neuropathy [ICD-11 Category]
- Hereditary motor and sensory neuropathy [ICD-10 Sub-category (who)]
- Hereditary motor and sensory neuropathy (disorder) [SNOMED CT concept]
- Hereditary sensory and autonomic neuropathy [ORDO Disease]
- Hereditary sensory and autonomic neuropathy (disorder) [SNOMED CT concept]
- Hereditary sensory or autonomic neuropathy [ICD-11 Category]
- Peroneal muscular atrophy [MedDRA Preferred Term]
- Peroneal muscular atrophy [MedDRA LLT]
- Peroneal muscular atrophy [ICD-9 code]
- Roussy-Levy syndrome [MedDRA LLT]
- Roussy-Lévy syndrome (disorder) [SNOMED CT concept]
- Roussy-levy hereditary areflexic dystasia [OMIM Phenotype]
- charcot-marie-tooth disease [MedlinePlus Topic]
- hereditary motor sensory neuropathy [Disease (Nov.)]
- peroneal muscular atrophy [SNOMED Notion]
- roussy-levy syndrome [SNOMED Notion]
DO Cross reference
- Charcot-Marie-Tooth disease [DO Concept]
- hereditary sensory and autonomic neuropathy type 2 [DO Concept]
False automatic mappings
- EDQM-HC Combined Term Terminology [NCIt concept]
Has phenotype(s) (HPO)
- Distal limb muscle atrophy due to peripheral neuropathy [HPO term]
- Distal limb muscle weakness [HPO term]
- Distal limb muscle weakness due to peripheral neuropathy [HPO term]
- Segmental demyelination/remyelination on nerve biopsy [HPO term]
Indexing information
- CDRT1 protein, human [MeSH Supplementary Concept]
- LRSAM1 protein, mouse [MeSH Supplementary Concept]
Manual BTNT mappings - CISMeF
- Autosomal dominant Charcot-Marie-Tooth disease type 2 [ORDO Disease]
- Autosomal dominant intermediate Charcot-Marie-Tooth disease [ORDO Disease]
- Autosomal recessive axonal hereditary motor and sensory neuropathy [ORDO Disease]
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type A [ORDO Disease]
- Charcot-Marie-Tooth disease type 1C [ORDO Disease]
- Charcot-Marie-Tooth disease type 1D [ORDO Disease]
- Charcot-Marie-Tooth disease type 1E [ORDO Disease]
- Charcot-Marie-Tooth disease type 1F [ORDO Disease]
- Charcot-Marie-Tooth disease type 4 [ORDO Disease]
- Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome [ORDO Disease]
- Distal hereditary motor neuropathy [ORDO Disease]
- Hereditary motor and sensory neuropathy type 6 [ORDO Disease]
- Hereditary motor and sensory neuropathy with acrodystrophy [ORDO Disease]
- Hereditary motor and sensory neuropathy, Okinawa type [ORDO Disease]
- Severe early-onset axonal neuropathy due to MFN2 deficiency [ORDO Disease]
- X-linked Charcot-Marie-Tooth disease [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Autosomal dominant hereditary demyelinating motor and sensory neuropathy [ORDO Disease]
- Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly [ORDO Disease]
MedlinePlus topic(s)
- charcot-marie-tooth disease [MedlinePlus Topic]
ORDO relation(s)
- Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy [ORDO Disease]
Record concept(s)
- Charcot-Marie-Tooth disease [MeSH concept]
- Charcot-Marie-Tooth disease, type ia [MeSH concept]
- Charcot-Marie-Tooth disease, type ib [MeSH concept]
- HMSN type II [MeSH concept]
- Roussy-Levy syndrome [MeSH concept]
- hereditary type I motor and sensory neuropathy [MeSH concept]
Related MeSH Supplementary Concept(s)
- Charcot-Marie-Tooth disease and deafness [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease with ptosis and parkinsonism [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, X-linked recessive, 2 [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, X-linked recessive, 3 [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, X-linked, 1 [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, autosomal dominant, type 2k [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, axonal, type 2A2 [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, axonal, type 2a1 [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, axonal, type 2n [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, demyelinating, type 1e [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, dominant intermediate 1 [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, dominant intermediate 2 [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, dominant intermediate 3 [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, dominant intermediate A [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, dominant intermediate B [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, dominant intermediate C [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, dominant intermediate D [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, foot deformity of [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, guadalajara neuronal type [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, recessive intermediate A [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 1C [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 1D [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 1E [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 1F [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 2A [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 2B [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 2B1 [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 2B2 [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 2C [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 2D [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 2E [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 2F [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 2H [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 2I [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 2J [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 2K [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 4A [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 4A, axonal form [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 4B1 [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 4B2 [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 4B2, with early-onset glaucoma [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 4C [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 4E [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 4H [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, type 4j [MeSH Supplementary Concept]
- Charcot-Marie-Tooth neuropathy, dominant intermediate B, with neutropenia [MeSH Supplementary Concept]
- Charcot-Marie-Tooth neuropathy, type 4B2, with Early-Onset glaucoma [MeSH Supplementary Concept]
- Charcot-Marie-Tooth peroneal muscular atrophy and friedreich ataxia, combined [MeSH Supplementary Concept]
- charcot marie tooth type 1 aplasia cutis congenita [MeSH Supplementary Concept]
- cowchock syndrome [MeSH Supplementary Concept]
- hereditary motor and sensory neuropathy, type IIC [MeSH Supplementary Concept]
- keratoderma palmoplantar spastic paralysis [MeSH Supplementary Concept]
- neuropathy, distal hereditary motor, type IIA [MeSH Supplementary Concept]
- neuropathy, hereditary motor and sensory, LOM type [MeSH Supplementary Concept]
- polyneuropathy, mixed, of early onset [MeSH Supplementary Concept]
See also
- early growth response protein 2 [MeSH Descriptor]
- myelin P0 protein [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot Marie Tooth disease [PASCAL descriptor]
- Charcot Marie Tooth disease [Disease (Nov.)]
- Charcot-Marie-Tooth Disease [NCIt concept]
- Charcot-Marie-Tooth disease [DO Concept]
- Charcot-Marie-Tooth disease [MedDRA LLT]
- Charcot-Marie-Tooth disease (disorder) [Inactive SNOMED CT concept]
- Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy [ORDO Disease]
- Peroneal muscular atrophy [MedDRA Preferred Term]
- Peroneal muscular atrophy [ICD-9 code]
- Peroneal muscular atrophy [MedDRA LLT]
- charcot-marie-tooth disease [MedlinePlus Topic]
- peroneal muscular atrophy [SNOMED Notion]
Validated automatic mappings to BTNT
- Charcot Marie Tooth disease type 1A [Disease (Nov.)]
- Charcot-Marie-Tooth Disease Type 1B [NCIt concept]
- Charcot-Marie-Tooth disease 1 autosomal dominant due to chromosome 17 duplication [ICD-11 More detail]
- Charcot-Marie-Tooth disease type 1A [DO Concept]
- Charcot-Marie-Tooth disease type 1B [DO Concept]

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