metaphyseal dysplasia with maxillary hypoplasia and brachydactyly

Preferred Label : metaphyseal dysplasia with maxillary hypoplasia and brachydactyly;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0563886;

UMLS CUI

C1834969;

Automatic exact mappings (from CISMeF team)
- metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome [DO Concept]
Currated CISMeF NLP mapping
- Metaphyseal dysplasia - maxillary hypoplasia - brachydactyly [ICD-11 More detail]
- Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly [OMIM Phenotype]
- Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome [ORDO Disease]
Related record
- metaphyseal dysplasia with maxillary hypoplasia and brachydactyly [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]