larsen syndrome, recessive type

Preferred Label : larsen syndrome, recessive type;

MeSH note : Multiple congenital dislocations associated with characteristic facial abnormality;

MeSH synonym : larsen syndrome, recessive; autosomal recessive larsen syndrome;

Details

Origin ID

C537874;

UMLS CUI

C2931649;

Automatic exact mappings (from CISMeF team)
- CHST3-related skeletal dysplasia [ORDO Disease]
- Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects [OMIM Phenotype]
MeSH term(s) associated for indexing
- Joint Dislocations [MeSH Descriptor]
- abnormalities, multiple [MeSH Descriptor]
- bone diseases, developmental [MeSH Descriptor]
- musculoskeletal abnormalities [MeSH Descriptor]
Record concept(s)
- Larsen syndrome, recessive type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CHST3-related skeletal dysplasia [ORDO Disease]

Keyword's position in hierarchy(ies) :

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