Charcot-Marie-Tooth Disease

Preferred Label : Charcot-Marie-Tooth Disease;

NCIt synonyms : Hereditary Sensorimotor Neuropathy; Hereditary Motor and Sensory Neuropathy; Charcot Marie Tooth Disease;

NCIt definition : An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs.;

Details

Origin ID

C75467;

UMLS CUI

C0007959;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease type 4 [DO Concept]
- Charcot-marie-tooth disease, demyelinating, type 1b [OMIM Phenotype]
- Hereditary motor and sensory neuropathy V [OMIM Phenotype]
- motor peripheral neuropathy [DO Concept]
- tripartite motif containing 2 [HGNC gene]
Currated CISMeF NLP mapping
- Charcot Marie Tooth disease [PASCAL descriptor]
- Charcot Marie Tooth disease [Disease (Nov.)]
- Charcot-Marie-Tooth disease [DO Concept]
- Charcot-Marie-Tooth disease [Radlex concept]
- Charcot-Marie-Tooth disease [MeSH 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 [ICD-11 Category]
- Hereditary motor and sensory neuropathy [MedDRA Preferred Term]
- Hereditary motor and sensory neuropathy [ICD-10 Sub-category (who)]
- Hereditary motor and sensory neuropathy [ORDO Disease]
- 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 LLT]
- Peroneal muscular atrophy [ICD-9 code]
- charcot-marie-tooth disease [MedlinePlus Topic]
- charcot-marie-tooth disease [MeSH Descriptor]
- hereditary motor sensory neuropathy [Disease (Nov.)]
- hereditary sensory and autonomic neuropathies [MeSH Descriptor]
- hereditary sensory and autonomic neuropathies [MeSH concept]
- hereditary sensory and motor neuropathy [MeSH Descriptor]
- hereditary sensory and motor neuropathy [MeSH concept]
- peroneal muscular atrophy [SNOMED Notion]
DO Cross reference
- Charcot-Marie-Tooth disease [DO Concept]
- motor peripheral neuropathy [DO Concept]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
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 [DO Concept]
- Charcot-Marie-Tooth disease [MeSH 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]
- charcot-marie-tooth disease [MeSH Descriptor]
- peroneal muscular atrophy [SNOMED Notion]
Validated automatic mappings to BTNT
- hereditary motor and sensory neuropathy Is [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Peripheral Nerve [NCIt concept]

Keyword's position in hierarchy(ies) :

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