dyssegmental dysplasia, Rolland-Desbuquois type

Preferred Label : dyssegmental dysplasia, Rolland-Desbuquois type;

MeSH synonym : anisospondylic camptomicromelic dwarfism, Rolland-Desbuquois type; dyssegmental dwarfism, Rolland-Desbuquois type;

Details

Origin ID

C537999;

UMLS CUI

C0432209;

Currated CISMeF NLP mapping
- Dyssegmental dysplasia, Rolland-Desbuquois type [ICD-11 More detail]
- Dyssegmental dysplasia, Rolland-Desbuquois type [ORDO Disease]
- Dyssegmental dysplasia, rolland-desbuquois type [OMIM Phenotype]
- Rolland-Debuqois syndrome (disorder) [SNOMED CT concept]
Has phenotype(s) (HPO)
- Lens dislocation [HPO term]
- Short, broad, bowed long bones [HPO term]
- Short, flared ribs [HPO term]
- short, broad tubular bones [HPO term]
MeSH term(s) associated for indexing
- achondroplasia [MeSH Descriptor]
- campomelic dysplasia [MeSH Descriptor]
- cleft palate [MeSH Descriptor]
ORDO relation(s)
- Dyssegmental dysplasia, Rolland-Desbuquois type [ORDO Disease]
Record concept(s)
- Dyssegmental dysplasia, Rolland-Desbuquois type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dyssegmental dysplasia, Rolland-Desbuquois type [ORDO Disease]
- Dyssegmental dysplasia, Rolland-Desbuquois type [ICD-11 More detail]
- Dyssegmental dysplasia, rolland-desbuquois type [OMIM Phenotype]
- Rolland-Debuqois syndrome (disorder) [SNOMED CT concept]
- rolland-debuqois syndrome [SNOMED Notion]

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