Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism

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

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0530252;

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]
Related record
- spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism [MeSH Supplementary 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]