der kaloustian mcintosh silver syndrome

Preferred Label : der kaloustian mcintosh silver syndrome;

MeSH note : Unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance;

Détails

Origin ID

C538217;

UMLS CUI

C2931776;

Currated CISMeF NLP mapping
- Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) [SNOMED CT concept]
- Radioulnar synostosis, unilateral, with developmental retardation and hypotonia [OMIM Phenotype]
- Radioulnar synostosis-developmental delay-hypotonia syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- developmental disabilities [MeSH Descriptor]
- facies [MeSH Descriptor]
- muscle hypotonia [MeSH Descriptor]
- synostosis [MeSH Descriptor]
Record concept(s)
- Der Kaloustian Mcintosh Silver syndrome [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) [SNOMED CT concept]
- Radioulnar synostosis-developmental delay-hypotonia syndrome [ORDO Disease]

Position du mot-clé dans l'(les) arborescence(s) :

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