autosomal recessive Emery-Dreifuss muscular dystrophy

Preferred Label : autosomal recessive Emery-Dreifuss muscular dystrophy;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0464071;

UMLS CUI

C1450051;

Currated CISMeF NLP mapping
- Autosomal recessive Emery-Dreifuss muscular dystrophy [ORDO Disease]
- Emery-Dreifuss muscular dystrophy, autosomal recessive [ICD-11 More detail]
Related record
- muscular dystrophy, emery-dreifuss [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive Emery-Dreifuss muscular dystrophy (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- Emery-dreifuss muscular dystrophy 3, autosomal recessive [OMIM Phenotype]