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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
| Id | http://purl.bioontology.org/ontology/NDFRT/N0000000742
http://purl.bioontology.org/ontology/NDFRT/N0000000742
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|---|---|
| Preferred Name | Charcot-Marie-Tooth Disease [Disease/Finding] |
| Synonyms |
Muscular Atrophy, Peroneal
Charcot-Marie-Tooth Disease
Charcot-Marie Disease
Atrophy, Muscular, Peroneal
Peroneal Muscular Atrophy
Charcot-Marie-Tooth Syndrome
Charcot-Marie-Tooth Hereditary Neuropathy
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Muscular Atrophy, Peroneal
Charcot-Marie-Tooth Disease
Charcot-Marie Disease
Atrophy, Muscular, Peroneal
Peroneal Muscular Atrophy
Charcot-Marie-Tooth Syndrome
Charcot-Marie-Tooth Hereditary Neuropathy
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| prefLabel | Charcot-Marie-Tooth Disease [Disease/Finding]
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| notation | N0000000742
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| Has contraindicated drug | |
| 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)
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| MESH UI | M0003994
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| subClassOf | |
| Semantic type UMLS property | |
| MeSH name | Charcot-Marie-Tooth Disease
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| NDFRT kind | DISEASE_KIND
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| type | |
| SNOMED CID | 50548001
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| tui | T047
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| NUI | N0000000742
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| cui | C0007959
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| MESH DUI | D002607
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| Delete | Subject | Author | Type | Created |
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| No notes to display |