Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism

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

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Smd with bowed forearms and facial dysmorphism;

Prefixed ID : 607543;

Details

Origin ID

607543;

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 [MeSH concept]
- Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome [ORDO Disease]
- spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism [MeSH Supplementary Concept]
ORDO concept(s)
- Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome [ORDO Disease]
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 [MeSH concept]
- Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome [ORDO Disease]
- spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism [MeSH Supplementary Concept]
- spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism [DO Concept]

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