Charcot-Marie-Tooth disease, type 2B

Preferred Label : Charcot-Marie-Tooth disease, type 2B;

MeSH synonym : peripheral sensory neuropathy, autosomal dominant (PSN); hereditary motor and sensory neuropathy 2 B (HMSN 2 B); Charcot-Marie-Tooth disease, axonal, type 2B; Charcot-Marie-Tooth disease, neuronal, type 2B; hereditary motor and sensory neuropathy IIB; Charcot-Marie-Tooth neuropathy, type 2B; CMT2B; HMSN IIB; HMSN2B; CMT 2B; Charcot-Marie-Tooth disease, autosomal dominant, type 2B;

Details

Origin ID

C537989;

UMLS CUI

C1833219;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease type 2B [ICD-11 More detail]
- RAB7A wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2B [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2B (disorder) [SNOMED CT concept]
- Charcot Marie Tooth disease type 2B [Disease (Nov.)]
- Charcot-Marie-Tooth disease type 2B [DO Concept]
- Charcot-marie-tooth disease, axonal, type 2b [OMIM Phenotype]
MeSH term(s) associated for indexing
- Laminopathies [MeSH Descriptor]
- charcot-marie-tooth disease [MeSH Descriptor]
Record concept(s)
- Charcot-Marie-Tooth disease, Type 2B [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2B [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2B (disorder) [SNOMED CT concept]
- Charcot Marie Tooth disease type 2B [Disease (Nov.)]
- Charcot-Marie-Tooth disease type 2B [DO Concept]
- Charcot-marie-tooth disease, axonal, type 2b [OMIM Phenotype]

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