Charcot-Marie-Tooth disease and deafness

Preferred Label : Charcot-Marie-Tooth disease and deafness;

MeSH synonym : neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers; deafness with Charcot-Marie-Tooth disease;

Détails

Origin ID

C538078;

UMLS CUI

C1861669;

Automatic exact mappings (from CISMeF team)
- Neuropathy, hereditary motor and sensory, with deafness, impaired intellectual development, and absent sensory large myelinated fibers [OMIM Phenotype]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease type 1E [DO Concept]
- Charcot-Marie-Tooth disease type 1E [ORDO Disease]
- Charcot-Marie-Tooth disease type IE (disorder) [SNOMED CT concept]
- Charcot-marie-tooth disease and deafness [OMIM Phenotype]
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]
- Foot drop [HPO term]
MeSH term(s) associated for indexing
- charcot-marie-tooth disease [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
ORDO relation(s)
- Charcot-Marie-Tooth disease type 1E [ORDO Disease]
Record concept(s)
- Charcot-Marie-Tooth disease and deafness [MeSH concept]
See also (suggested by CISMeF)
- Charcot-Marie-Tooth disease, type 1E [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neuropathy, hereditary motor and sensory, with deafness, impaired intellectual development, and absent sensory large myelinated fibers [OMIM Phenotype]

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