singleton merten syndrome

Preferred Label : singleton merten syndrome;

MeSH note : SM syndrome; Syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition; and Widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness not included;

MeSH synonym : Merten-Singleton syndrome; Singleton-Merten syndrome;

Details

Origin ID

C537343;

UMLS CUI

C0432254;

Automatic exact mappings (from CISMeF team)
- Singleton-Merten dysplasia [ICD-11 More detail]
- Singleton-merten syndrome [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Singleton-Merten dysplasia [ORDO Disease]
- Singleton-Merten syndrome (disorder) [SNOMED CT concept]
- Singleton-merten syndrome 1 [OMIM Phenotype]
Has phenotype(s) (HPO)
- Height less than 3rd percentile [HPO term]
MeSH term(s) associated for indexing
- aortic diseases [MeSH Descriptor]
- dental enamel hypoplasia [MeSH Descriptor]
- metacarpus [MeSH Descriptor]
- muscular diseases [MeSH Descriptor]
- odontodysplasia [MeSH Descriptor]
- osteoporosis [MeSH Descriptor]
- vascular calcification [MeSH Descriptor]
Record concept(s)
- Singleton Merten syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Singleton-Merten dysplasia [ORDO Disease]
- Singleton-Merten syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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