congenital muscular dysdrophy

Preferred Label : congenital muscular dysdrophy;

PubMed query (by CISMeF) : %22congenital muscular dysdrophy%22[TIAB] OR (%22muscular dystrophies/congenital%22[MH])

Origin ID

SR217;

UMLS CUI

C0699743;

Automatic exact mappings (from CISMeF team)
- Congenital myopathies [ICD-10 Sub-category (who)]
- Dyggve-Melchior-Clausen Syndrome [NCIt concept]
- Dyggve-melchior-clausen disease [OMIM Phenotype]
Currated CISMeF NLP mapping
- Congenital muscular dystrophy [HPO term]
- Congenital muscular dystrophy [ICD-11 Subcategory]
- Congenital muscular dystrophy [ORDO Disease]
- Congenital muscular dystrophy (disorder) [Inactive SNOMED CT concept]
- Muscular dystrophy, congenital [HPO term]
- congenital muscular dystrophy [Disease (Nov.)]
- congenital muscular dystrophy [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital muscular dystrophy [HPO term]
- Congenital muscular dystrophy [ORDO Disease]
- Congenital muscular dystrophy (disorder) [Inactive SNOMED CT concept]
- Muscular dystrophy, congenital [HPO term]
- congenital muscular dystrophy [Disease (Nov.)]