spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism

Preferred Label : spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism;

MeSH synonym : SMD with bowed forearms and facial dysmorphism;

Details

Origin ID

C535791;

UMLS CUI

C1843706;

Currated CISMeF NLP mapping
- Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism [ICD-11 More detail]
- Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism [OMIM Phenotype]
- Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- osteochondrodysplasias [MeSH Descriptor]
ORDO relation(s)
- Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome [ORDO Disease]
Record concept(s)
- Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism [ICD-11 More detail]
- Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism [OMIM Phenotype]
- Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome [ORDO Disease]
- spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism [DO Concept]

Keyword's position in hierarchy(ies) :

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