fibular hypoplasia and complex brachydactyly

Preferred Label : fibular hypoplasia and complex brachydactyly;

MeSH synonym : du pan syndrome;

Origin ID

C537931;

UMLS CUI

C1856738;

CISMeF manual mappings
- Aplasia of fibula co-occurrent with complex brachydactyly (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Acromesomelic dysplasia 2b [OMIM Phenotype]
- DuPan syndrome [Disease (Nov.)]
- Fibular aplasia - complex brachydactyly [ICD-11 More detail]
- Fibular aplasia-complex brachydactyly syndrome [ORDO Disease]
- fibular hypoplasia and complex brachydactyly [DO Concept]
DO Cross reference
- fibular hypoplasia and complex brachydactyly [DO Concept]
Has phenotype(s) (HPO)
- Rhizomelic shortening [HPO term]
MeSH term(s) associated for indexing
- brachydactyly [MeSH Descriptor]
- fibula [MeSH Descriptor]
Record concept(s)
- Fibular hypoplasia and complex brachydactyly [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acromesomelic dysplasia 2b [OMIM Phenotype]
- Aplasia of fibula co-occurrent with complex brachydactyly (disorder) [SNOMED CT concept]
- DuPan syndrome [Disease (Nov.)]
- Fibular aplasia-complex brachydactyly syndrome [ORDO Disease]
- fibular hypoplasia and complex brachydactyly [DO Concept]