kyphomelic dysplasia

Preferred Label : kyphomelic dysplasia;

MeSH synonym : bowing, congenital, with short bones;

Origin ID

C538128;

UMLS CUI

C0432239;

Automatic exact mappings (from CISMeF team)
- Kyphomelic dysplasia [ICD-11 More detail]
Currated CISMeF NLP mapping
- Kyphomelic dysplasia [OMIM Phenotype]
- Kyphomelic dysplasia [ORDO Disease]
- Kyphomelic dysplasia (disorder) [SNOMED CT concept]
Has phenotype(s) (HPO)
- Flattened nasal bridge [HPO term]
- Horizontal acetabular roof [HPO term]
- Short humeri [HPO term]
- Short, curved femora [HPO term]
- Short, flared ribs [HPO term]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- bone diseases, developmental [MeSH Descriptor]
ORDO relation(s)
- Kyphomelic dysplasia [ORDO Disease]
Record concept(s)
- Kyphomelic dysplasia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kyphomelic dysplasia [ORDO Disease]
- Kyphomelic dysplasia [OMIM Phenotype]
- Kyphomelic dysplasia (disorder) [SNOMED CT concept]