Kniest-Like dysplasia with pursed lips and ectopia lentis

Preferred Label : Kniest-Like dysplasia with pursed lips and ectopia lentis;

MeSH synonym : burton syndrome;

Origin ID

C565452;

UMLS CUI

C1855606;

Automatic exact mappings (from CISMeF team)
- Schwartz-Jampel syndrome [ORDO Disease]
- Schwartz-Jampel syndrome (disorder) [SNOMED CT concept]
- Schwartz-Jampel syndrome 1 [DO Concept]
Currated CISMeF NLP mapping
- Kniest-like dysplasia with pursed lips and ectopia lentis [OMIM Phenotype]
MeSH term(s) associated for indexing
- ectopia lentis [MeSH Descriptor]
- lip [MeSH Descriptor]
- microstomia [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- Kniest-Like dysplasia with pursed lips and ectopia lentis [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kniest-like dysplasia with pursed lips and ectopia lentis [OMIM Phenotype]