Charcot-Marie-Tooth disease, type 4E

Preferred Label : Charcot-Marie-Tooth disease, type 4E;

CISMeF synonym : congenital hypomyelinating neuropathy;

MeSH synonym : Charcot-Marie-Tooth neuropathy, type 4e;

Related MeSH term : Hypomyelination, severe congenital; Congenital hypomyelinating neuropathy (CHN); Neuropathy, congenital hypomyelinating;

Détails

Origin ID

C535301;

UMLS CUI

C4721437;

Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease type 4E [DO Concept]
- Charcot-Marie-Tooth disease type 4E [ICD-11 More detail]
- Charcot-Marie-Tooth disease type 4E [ORDO Disease]
- Charcot-Marie-Tooth disease type 4E (disorder) [SNOMED CT concept]
- Congenital hypomyelinating neuropathy (disorder) [SNOMED CT concept]
- Neuropathy, congenital hypomyelinating, 1, autosomal recessive [OMIM Phenotype]
MeSH term(s) associated for indexing
- charcot-marie-tooth disease [MeSH Descriptor]
ORDO relation(s)
- Charcot-Marie-Tooth disease type 4E [ORDO Disease]
Record concept(s)
- Charcot-Marie-Tooth disease, Type 4E [MeSH concept]
- Congenital Hypomyelinating Neuropathy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease type 4E [ORDO Disease]
- Charcot-Marie-Tooth disease type 4E [DO Concept]
- Charcot-Marie-Tooth disease type 4E (disorder) [SNOMED CT concept]
- Congenital hypomyelinating neuropathy (disorder) [SNOMED CT concept]
- Neuropathy, congenital hypomyelinating, 1, autosomal recessive [OMIM Phenotype]

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